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Sample records for fetal hydantoin syndrome

  1. A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound

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    Thomaz Rafael Gollop

    1999-06-01

    Full Text Available Fetal hydantoin syndrome (FHS is a set of disruptions occasionally present in fetuses exposed in utero to phenytoin or other anticonvulsants. Administration of phenytoin in early pregnancy may impair proper psychomotor performance expected for children's development. Several combined phenotypic markers delineate the syndrome, but the presence of single clinical signs is more common. There is controversy about the etiology of FHS. Associated disruptions may be related to a deficiency in a detoxifying enzyme (epoxide hydrolase, vascular problems, and/or factors not yet known. Genetic causes are believed to influence susceptibility to the drug. This text reports an unusual pattern of malformations detected in an ultrasound scan (gastroschisis, sacral meningomyelocele, and absence of the right lower limb and in the anatomopathological study (left-side gastroschisis, sacral meningomyelocele, scoliosis, left clubfoot, absence of the right lower limb, and pectus carinatum of a fetus whose mother took phenytoin. These defects may have been provoked by exposure to the drug during embryogenesis. In view of similar malformations observed in cases of prenatal exposure to cocaine, a recognized vasoconstrictor, it is suggested that vascular disruptions of hemodynamic origin constituted the event leading to some of the anomalies caused in the developing embryo. A complication of the chorionic villus sampling procedure, used for cytogenetic analysis, is another possibility.A síndrome da hidantoína fetal consiste em um conjunto de disrupturas por vezes observadas em fetos expostos à fenitoína ou outros anticonvulsivos no período pré-natal. A administração de fenitoína em fase precoce da gravidez pode prejudicar o desempenho psicomotor esperado no desenvolvimento infantil. Diversos indicadores fenotípicos, em conjunto, caracterizam a síndrome, mas a presença de sinais clínicos isolados é mais comum. Há controvérsia quanto à sua etiologia. As

  2. Is Neurofibromatosis Type 1-Noonan Syndrome a Phenotypic Result of Combined Genetic and Epigenetic Factors?

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    Yapijakis, Christos; Pachis, Nikos; Natsis, Stavros; Voumvourakis, Costas

    2016-01-01

    Neurofibromatosis 1-Noonan syndrome (NFNS) presents combined characteristics of both autosomal dominant disorders: NF1 and Noonan syndrome (NS). The genes causing NF1 and NS are located on different chromosomes, making it uncertain whether NFNS is a separate entity as previously suggested, or rather a clinical variation. We present a four-membered Greek family. The father was diagnosed with familial NF1 and the mother with generalized epilepsy, being under hydantoin treatment since the age of 18 years. Their two male children exhibited NFNS characteristics. The father and his sons shared R1947X mutation in the NF1 gene. The two children with NFNS phenotype presented with NF1 signs inherited from their father and fetal hydantoin syndrome-like phenotype due to exposure to that anticonvulsant during fetal development. The NFNS phenotype may be the result of both a genetic factor (mutation in the NF1 gene) and an epigenetic/environmental factor (e.g. hydantoin). Copyright © 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

  3. Discovery and SAR of hydantoin TACE inhibitors

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    Yu, Wensheng; Guo, Zhuyan; Orth, Peter; Madison, Vincent; Chen, Lei; Dai, Chaoyang; Feltz, Robert J.; Girijavallabhan, Vinay M.; Kim, Seong Heon; Kozlowski, Joseph A.; Lavey, Brian J.; Li, Dansu; Lundell, Daniel; Niu, Xiaoda; Piwinski, John J.; Popovici-Muller, Janeta; Rizvi, Razia; Rosner, Kristin E.; Shankar, Bandarpalle B.; Shih, Neng-Yang; Siddiqui, M.A.; Sun, J.; Tong, L.; Umland, S.; Wong, M.K.; Yang, D.Y.; Zhou, G. (Merck)

    2010-09-03

    We disclose inhibitors of TNF-{alpha} converting enzyme (TACE) designed around a hydantoin zinc binding moiety. Crystal structures of inhibitors bound to TACE revealed monodentate coordination of the hydantoin to the zinc. SAR, X-ray, and modeling designs are described. To our knowledge, these are the first reported X-ray structures of TACE with a hydantoin zinc ligand.

  4. Synthesis of carboranyl amino acids, hydantoins, and barbiturates

    International Nuclear Information System (INIS)

    Wyzlic, I.M.; Tjarks, W.; Soloway, A.H.

    1996-01-01

    The syntheses of three novel boronated hydantoins, 5-(o-carboran-1-ylmethyl)hydantoin, 14, the tetraphenylphosphonium salt of 7-(hydantoin-5-ylmethyl)dodecahydro-7,8-dicarba-nido-undecaborate, 15, 5-(o-carboran-1-ylmethyl)-2-thiohydantoin, 16, and two new barbiturates, 5,5-bis(but-2-ynyl)barbiturate, 18, and 5,5-bis[(2-methyl-0-carboran-1-yl)methyl]barbiturate, 20, are described. Hydantoins 14-16 were synthesized from o-carboranylalanine (Car, 13). The detailed synthesis of Car and two other carborane-containing amino acids, O-(o-carboran-1-ylmethyl)tyrosine (CBT, 5a) and p-(o-carboran-1-yl)phenylalanine (CBPA, 5b), presented earlier as a communication, 16 are also described. Hydantoin 14 and barbiturates 18 and 20 were tested for their potential anticonvulsant activity. Initial qualitative screening showed moderate activities for hydantoin 14 and barbiturate 18. Barbiturate 20 had no activity. Compound 14 appeared to be nontoxic at doses of 300 mg/kg (mice, ip) and 50 mg/kg (rats, oral). However, 18 was very toxic under similar conditions

  5. Prenatal diagnosis of fetal syndromes

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    Murthy, BS Rama

    2008-01-01

    A syndrome is a pattern of multiple anomalies arising due to a single known causative factor. Ultrasonography has enabled us to recognize many fetal anomalies and dysmorphic features. Recognition of the anomaly pattern leads to the diagnosis of a particular syndrome. This enables us to counsel prospective parents and aids in management. We present a selection of fetal syndromes in the form of a pictorial essay

  6. Where's water? The many binding sites of hydantoin.

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    Gruet, Sébastien; Pérez, Cristóbal; Steber, Amanda L; Schnell, Melanie

    2018-02-21

    Prebiotic hydantoin and its complexes with one and two water molecules are investigated using high-resolution broadband rotational spectroscopy in the 2-8 GHz frequency range. The hyperfine structure due to the nuclear quadrupole coupling of the two 14 N atoms is analysed for the monomer and the complexes. This characteristic hyperfine structure will support a definitive assignment from low frequency radioastronomy data. Experiments with H 2 18 O provide accurate experimental information on the preferred binding sites of water, which are compared with quantum-chemically calculated coordinates. In the 2-water complexes, the water molecules bind to hydantoin as a dimer instead of individually, indicating the strong water-water interactions. This information provides first insight on how hydantoin interacts with water on the molecular level.

  7. Fluorous Parallel Synthesis of A Hydantoin/Thiohydantoin Library

    OpenAIRE

    Lu, Yimin; Zhang, Wei

    2005-01-01

    Fluorous tagging strategy is applied to solution-phase parallel synthesis of a library containing hydantoin and thiohydantoin analogs. Two perfluoroalkyl (Rf)-tagged α-amino esters each react with 6 aromatic aldehydes under reductive amination conditions. Twelve amino esters then each react with 10 isocyanates and isothiocyanates in parallel. The resulting 120 ureas and thioureas undergo spontaneous cyclization to form the corresponding hydantoins and thiohydantoins. The intermediate and fina...

  8. Fetal Alcohol Syndrome and Fetal Alcohol Effects in Child Development.

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    Pancratz, Diane R.

    This literature review defines Fetal Alcohol Syndrome (FAS) and Fetal Alcohol Effects (FAE) and considers their causes, diagnoses, prevalence, and educational ramifications. Effects of alcohol during each of the trimesters of pregnancy are summarized. Specific diagnostic characteristics of FAS are listed: (1) growth deficiency, (2) a…

  9. PREVENTION FETAL ALCOHOL SYNDROME IN RUSSIA

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    L. V. Skitnevskaya

    2013-01-01

    Full Text Available The article is devoted to the influence of alcohol problems in women of childbearing age during pregnancy on the unborn child. The concept of a fetal alcohol syndrome (FAS. We describe the stages of the research project "Prevention of fetal FAS in Russia."

  10. Fetal Alcohol Syndrome.

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    Zerrer, Peggy

    The paper reviews Fetal Alcohol Syndrome (FAS), a series of effects seen in children whose mothers drink alcohol to excess during pregnancy. The identification of FAS and its recognition as a major health problem in need of prevention are traced. Characteristics of children with FAS are described and resultant growth retardation, abnormal physical…

  11. Clinical characteristics of mirror syndrome: a comparison of 10 cases of mirror syndrome with non-mirror syndrome fetal hydrops cases.

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    Hirata, Go; Aoki, Shigeru; Sakamaki, Kentaro; Takahashi, Tsuneo; Hirahara, Fumiki; Ishikawa, Hiroshi

    2016-01-01

    To investigate clinical features of mirror syndrome. We retrospectively reviewed 71 cases of fetal hydrops with or without mirror syndrome, and compared with respect to maternal age, the body mass index, the primipara rate, the gestational age at delivery, the timing of fetal hydrops onset, the severity of fetal edema, placental swelling, the laboratory data and the fetal mortality. The data are expressed as the medians. Mirror syndrome developed in 29% (10/35) of the cases with fetal hydrops. In mirror group, the onset time of fetal hydrops was significantly earlier (29 weeks versus 31 weeks, p = 0.011), and the severity of fetal hydrops (fetal edema/biparietal diameter) was significantly higher than non-mirror group (0.23 versus 0.16, p < 0.001). There was significantly higher serum human chorionic gonadotropin (hCG) (453,000 IU/L versus 80,000 IU/L, p < 0.001) and lower hemoglobin (8.9 g/dL versus 10.1 g/dL, p =0.002), hypoalbuminemia (2.3 mg/dL versus 2.7 mg/dL, p = 0.007), hyperuricemia (6.4 mg/dL versus 5.0 mg/dL, p = 0.043) in mirror group. Mirror syndrome is occurred frequently in early and severe fetal hydrops and cause hemodilution and elevation of serum hCG.

  12. Experimental and computational study of the energetics of hydantoin and 2-thiohydantoin

    International Nuclear Information System (INIS)

    Silva, Ana L.R.; Cimas, Álvaro; Vale, Nuno; Gomes, Paula; Monte, Manuel J.S.; Ribeiro da Silva, Maria D.M.C.

    2013-01-01

    Highlights: ► A thermodynamic study of hydantoin and 2-thiohydantoin was performed. ► Enthalpies of formation of crystalline hydantoin and 2-thiohydantoin were determined. ► Enthalpies of sublimation of hydantoin and 2-thiohydantoin were derived. ► MO calculations at the G3MP2B3 level of theory are presented for both compounds. -- Abstract: This work reports an experimental and a theoretical study of two imidazolidine derivatives, hydantoin (CAS No. 461-72-3) and 2-thiohydantoin (CAS No. 503-87-7). The standard (p° = 0.1 MPa) molar energies of combustion of hydantoin and 2-thiohydantoin were measured by static and rotating bomb combustion calorimetry, respectively. The standard molar enthalpies of sublimation, at T = 298.15 K, were derived from the temperature dependence of the vapour pressures of these compounds, measured by the Knudsen-effusion technique, and from high temperature Calvet microcalorimetry. The conjugation of these experimental results enables the calculation of the standard molar enthalpies of formation in the gaseous state, at T = 298.15 K, which are discussed in terms of structural contributions. We have also estimated the gas-phase enthalpy of formation from high-level ab initio molecular orbital calculations at the G3MP2B3 level of theory, being the computed values in good agreement with the experimental ones. Furthermore, this composite approach was also used to obtain information about the gas-phase basicities, proton and electron affinities and adiabatic ionization enthalpies

  13. Fluorous Parallel Synthesis of A Hydantoin/Thiohydantoin Library

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    Lu, Yimin; Zhang, Wei

    2007-01-01

    Fluorous tagging strategy is applied to solution-phase parallel synthesis of a library containing hydantoin and thiohydantoin analogs. Two perfluoroalkyl (Rf)-tagged α-amino esters each react with 6 aromatic aldehydes under reductive amination conditions. Twelve amino esters then each react with 10 isocyanates and isothiocyanates in parallel. The resulting 120 ureas and thioureas undergo spontaneous cyclization to form the corresponding hydantoins and thiohydantoins. The intermediate and final product purifications are performed with solid-phase extraction (SPE) over FluoroFlash™ cartridges, no chromatography is required. Using standard instruments and straightforward SPE technique, one chemist accomplished the 120-member library synthesis in less than 5 working days, including starting material synthesis and product analysis. PMID:15789556

  14. Size-Induced Segregation in the Stepwise Microhydration of Hydantoin and Its Role in Proton-Induced Charge Transfer

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    Calvo, Florent; Bacchus-Montabonel, Marie-Christine

    2018-01-01

    Recent photochemistry experiments provided evidence for the formation of hydantoin by irradiation of interstellar ice analogues. The significance of these results and the importance of hydantoin in prebiotic chemistry and polypeptide synthesis motivate the present theoretical investigation, in which we analyzed the effects of stepwise hydration on the electronic and thermodynamical properties of the structure of microhydrated hydantoin using a variety of computational approaches. We generally find microhydration to proceed around the hydantoin heterocycle until 5 water molecules are reached, at which stage hydration becomes segregated with a water cluster forming aside the heterocycle. The reactivity of microhydrated hydantoin caused by an impinging proton was evaluated through charge transfer collision cross sections for microhydrated compounds but also for hydantoin on icy grains modeled using a cluster approach mimicking the true hexagonal ice surface. The effects of hydration on charge transfer efficiency are mostly significant when few water molecules are present, and they progressively weaken and stabilize in larger clusters. On the ice substrate, charge transfer essentially contributes to a global increase in the cross sections.

  15. Brief Communication: Maternal Plasma Autoantibodies Screening in Fetal Down Syndrome

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    Karol Charkiewicz

    2016-01-01

    Full Text Available Imbalance in the metabolites levels which can potentially be related to certain fetal chromosomal abnormalities can stimulate mother’s immune response to produce autoantibodies directed against proteins. The aim of the study was to determine the concentration of 9000 autoantibodies in maternal plasma to detect fetal Down syndrome. Method. We performed 190 amniocenteses and found 10 patients with confirmed fetal Down syndrome (15th–18th weeks of gestation. For the purpose of our control we chose 11 women without confirmed chromosomal aberration. To assess the expression of autoantibodies in the blood plasma, we used a protein microarray, which allows for simultaneous determination of 9000 proteins per sample. Results. We revealed 213 statistically significant autoantibodies, whose expression decreased or increased in the study group with fetal Down syndrome. The second step was to create a classifier of Down syndrome pregnancy, which includes 14 antibodies. The predictive value of the classifier (specificity and sensitivity is 100%, classification errors, 0%, cross-validation errors, 0%. Conclusion. Our findings suggest that the autoantibodies may play a role in the pathophysiology of Down syndrome pregnancy. Defining their potential as biochemical markers of Down syndrome pregnancy requires further investigation on larger group of patients.

  16. Diagnosis of fetal syndromes by three- and four-dimensional ultrasound: is there any improvement?

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    Barišić, Lara Spalldi; Stanojević, Milan; Kurjak, Asim; Porović, Selma; Gaber, Ghalia

    2017-08-28

    With all of our present knowledge, high technology diagnostic equipment, electronic databases and other available supporting resources, detection of fetal syndromes is still a challenge for healthcare providers in prenatal as well as in the postnatal period. Prenatal diagnosis of fetal syndromes is not straightforward, and it is a difficult puzzle that needs to be assembled and solved. Detection of one anomaly should always raise a suspicion of the existence of more anomalies, and can be a trigger to investigate further and raise awareness of possible syndromes. Highly specialized software systems for three- and four-dimensional ultrasound (3D/4D US) enabled detailed depiction of fetal anatomy and assessment of the dynamics of fetal structural and functional development in real time. With recent advances in 3D/4D US technology, antenatal diagnosis of fetal anomalies and syndromes shifted from the 2nd to the 1st trimester of pregnancy. It is questionable what can and should be done after the prenatal diagnosis of fetal syndrome. The 3D and 4D US techniques improved detection accuracy of fetal abnormalities and syndromes from early pregnancy onwards. It is not easy to make prenatal diagnosis of fetal syndromes, so tools which help like online integrated databases are needed to increase diagnostic precision. The aim of this paper is to present the possibilities of different US techniques in the detection of some fetal syndromes prenatally.

  17. Fetal Alcohol Syndrome Disorder: diminished responsibility and mitigation of sentence.

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    Scott, Russ

    2018-02-01

    The objective of this study was to consider the implications of a recent Western Australia Court of Appeal decision in which an indigenous youth who had been sentenced for the manslaughter of his neonate child was later diagnosed with Fetal Alcohol Syndrome Disorder. The increased use of the 2016 Australian guide to the diagnosis of fetal alcohol spectrum disorder should be encouraged to enable clinicians to not only diagnose and manage Fetal Alcohol Syndrome Disorder, but also counsel families to prevent it.

  18. Fetal urine biochemistry in antenatal Bartter syndrome: a case report.

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    Rachid, Myriam L; Dreux, Sophie; Czerkiewicz, Isabelle; Deschênes, Georges; Vargas-Poussou, Rosa; Mahieu-Caputo, Dominique; Oury, Jean-François; Muller, Françoise

    2016-09-01

    Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation.

  19. Maternal Plasma and Amniotic Fluid Chemokines Screening in Fetal Down Syndrome

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    Piotr Laudanski

    2014-01-01

    Full Text Available Objective. Chemokines exert different inflammatory responses which can potentially be related to certain fetal chromosomal abnormalities. The aim of the study was to determine the concentration of selected chemokines in plasma and amniotic fluid of women with fetal Down syndrome. Method. Out of 171 amniocentesis, we had 7 patients with confirmed fetal Down syndrome (15th–18th weeks of gestation. For the purpose of our control, we chose 14 women without confirmed chromosomal aberration. To assess the concentration of chemokines in the blood plasma and amniotic fluid, we used a protein macroarray, which allows the simultaneous determination of 40 chemokines per sample. Results. We showed significant decrease in the concentration of 4 chemokines, HCC-4, IL-28A, IL-31, and MCP-2, and increase in the concentration of CXCL7 (NAP-2 in plasma of women with fetal Down syndrome. Furthermore, we showed decrease in concentration of 3 chemokines, ITAC, MCP-3, MIF, and increase in concentration of 4 chemokines, IP-10, MPIF-1, CXCL7, and 6Ckine, in amniotic fluid of women with fetal Down syndrome. Conclusion. On the basis of our findings, our hypothesis is that the chemokines may play role in the pathogenesis of Down syndrome. Defining their potential as biochemical markers of Down syndrome requires further investigation on larger group of patients.

  20. Prevention of hyperthermia-induced seizures in immature rats by a hydantoin derivative of naloxone.

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    Chatterjie, N; Laorden, M L; Puig, M M; Alexander, G J

    1989-01-01

    The non-specific opiate antagonist naloxone protects immature rats from hyperthermic seizures which occur when the animals are exposed to an environment of 40 degrees C and 55% humidity. Most of the currently used antiepileptic therapeutic agents can be said to contain either a hydantoin or a moiety stereochemically closely related to one. We have added a hydantoin group to naloxone and created a new combined chemical, naloxyl-6-alpha spirohydantoin. The new compound was ten times as effective as naloxone against hyperthermic seizures in 15-day old rat pups. Unlike naloxone, the new naloxone-hydantoin derivative retained a protective effect 24 hrs after injection.

  1. Fetal Alcohol Syndrome "Chemical Genocide."

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    Asetoyer, Charon

    In the Northern Plains of the United States, 100% of Indian reservations are affected by alcohol related problems. Approximately 90% of Native American adults are currently alcohol users or abusers or are recovering from alcohol abuse. Alcohol consumption has a devastating effect on the unborn. Fetal Alcohol Syndrome (FAS) is an irreversible birth…

  2. Investigation of the Hydantoin Monomer and its Interaction with Water Molecules

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    Gruet, Sébastien; Perez, Cristobal; Schnell, Melanie

    2017-06-01

    Hydantoin (Imidazolidine-2,4-dione, C_3H_4N_2O_2) is a five-membered heterocyclic compound of astrobiological interest. This molecule has been detected in carbonaceous chondrites [1], and its formation can rise from the presence of glycolic acid and urea, two prebiotic molecules [2]. The hydrolysis of hydantoin under acidic conditions can also produce glycine [3], an amino acid actively searched for in the interstellar medium. Spectroscopic data of hydantoin is very limited and mostly dedicated to the solid phase. The high resolution study in gas phase is restricted to the work recently published by Ozeki et al. reporting the pure rotational spectra of the ground state and two vibrational states of the molecule in the millimeter-wave region (90-370 GHz)[4]. Using chirped-pulse Fourier-transform microwave (CP-FTMW) spectroscopy, we recorded the jet-cooled rotational spectra of hydantoin with water between 2 to 8 GHz. We observed the ground state of hydantoin monomer and several water complexes with one or two water molecules. All the observed species exhibit a hyperfine structure due to the two nitrogen atoms present in the molecule, which were fully resolved and analyzed. Additional experiments with a ^{18}O enriched water sample were realized to determine the oxygen-atom positions of the water monomers. These experiments yielded accurate structural information on the preferred water binding sites. The observed complexes and the interactions that hold them together, mainly strong directional hydrogen bonds, will be presented and discussed. [1] Shimoyama, A. and Ogasawara, R., Orig. Life Evol. Biosph., 32, 165-179, 2002. DOI:10.1023/A:1016015319112. [2] Menor-Salván, C. and Marín-Yaseli, M.R., Chem. Soc. Rev., 41(16), 5404-5415, 2012. DOI:10.1039/c2cs35060b. [3] De Marcellus P., Bertrand M., Nuevo M., Westall F. and Le Sergeant d'Hendecourt L., Astrobiology. 11(9), 847-854, 2011. DOI:10.1089/ast.2011.0677. [4] Ozeki, H., Miyahara R., Ihara H., Todaka S., Kobayashi

  3. Microwave-Assisted Hydantoins Synthesis on Solid Support

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    Coursindel, Thibault; Martinez, Jean; Parrot, Isabelle

    2010-01-01

    In this laboratory activity, students are introduced to a three-step synthesis of hydantoin (imidazolidine-2,4-dione), a moiety that is found in many biologically active compounds. Using a microwave oven and solid-support technology, this synthetic experiment is designed for masters-degree candidates working in organic chemistry or upper-level…

  4. Fetal Alcohol Syndrome: A Behavioral Teratology.

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    Kavale, Kenneth A.; Karge, Belinda D.

    1986-01-01

    The review examines the literature on the behaviorally teratogenic aspects of Fetal Alcohol Syndrome, including: (1) prevalence of alcohol abuse among women, (2) acute and chronic effects of alcohol on the fetus, (3) genetic susceptibility, (4) neuropathology, (5) correlative conditions, and (6) animal studies. (Author/DB)

  5. Fetal Alcohol Syndrome in Adolescents and Adults.

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    Bert, Cynthia R. Greene; Bert, Minnie

    Persons with fetal alcohol syndrome (FAS) may be diagnosed at birth based on specific symptoms and anomalies. These are history of prenatal alcohol exposure, mental retardation, central nervous system dysfunctions, growth deficiency, particular physical anomalies, and speech and language anomalies. With aging, cranial and skeletal anomalies become…

  6. A DFT study of solvation effects and NBO analysis on the tautomerism of 1-substituted hydantoin

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    Meisam Shabanian

    2016-09-01

    Full Text Available 1-Substituted hydantoins (1-SH have been known as a benefit intermediate for producing agricultural and pharmaceuticals. The effect of solvent polarity on the tautomeric equilibria of 1-substituted hydantoin ring is studied by the density functional theory calculation (B3LYP/6–31++G(d,p level for predominant tautomeric forms of hydantoin derivatives (1-NO2, 1-CF3, 1-Br, 1-H, 1-CHCH2, 1-OH, 1-CH3 in the gas phase and selected solvents (benzene (non-polar solvent, tetrahydrofuran (THF (polar aprotic solvent and water (protic solvent. For electron withdrawing and releasing derivatives in the gas phase and solution Hy1 forms is more stable and dominant form. In addition variation of dipole moments and charges on atoms in the solvents are studied.

  7. Crystallization of the hydantoin transporter Mhp1 from Microbacterium liquefaciens

    International Nuclear Information System (INIS)

    Shimamura, Tatsuro; Yajima, Shunsuke; Suzuki, Shun’ichi; Rutherford, Nicholas G.; O’Reilly, John; Henderson, Peter J. F.; Iwata, So

    2008-01-01

    Mhp1, a hydantoin transporter from M. liquefaciens, was purified and crystallized. Diffraction data were collected to 2.85 Å resolution; the crystal belonged to the orthorhombic space group P2 1 2 1 2 1 . The integral membrane protein Mhp1 from Microbacterium liquefaciens transports hydantoins and belongs to the nucleobase:cation symporter 1 family. Mhp1 was successfully purified and crystallized. Initial crystals were obtained using the hanging-drop vapour-diffusion method but diffracted poorly. Optimization of the crystallization conditions resulted in the generation of orthorhombic crystals (space group P2 1 2 1 2 1 , unit-cell parameters a = 79.7, b = 101.1, c = 113.8 Å). A complete data set has been collected from a single crystal to a resolution of 2.85 Å with 64 741 independent observations (94% complete) and an R merge of 0.12. Further experimental phasing methods are under way

  8. Crystallization and preliminary crystallographic studies of an active-site mutant hydantoin racemase from Sinorhizobium meliloti CECT4114

    International Nuclear Information System (INIS)

    Martínez-Rodríguez, Sergio; González-Ramírez, Luis Antonio; Clemente-Jiménez, Josefa María; Rodríguez-Vico, Felipe; Las Heras-Vázquez, Francisco Javier; Gavira, Jose Antonio; García-Ruiz, Juan Ma.

    2007-01-01

    Crystals of an active-site mutated hydantoin racemase from S. meliloti have been obtained in the presence and absence of d,l-5-isopropyl-hydantoin and characterized by X-ray diffraction. A recombinant active-site mutant of hydantoin racemase (C76A) from Sinorhizobium meliloti CECT 4114 (SmeHyuA) has been crystallized in the presence and absence of the substrate d,l-5-isopropyl hydantoin. Crystals of the SmeHyuA mutant suitable for data collection and structure determination were grown using the counter-diffusion method. X-ray data were collected to resolutions of 2.17 and 1.85 Å for the free and bound enzymes, respectively. Both crystals belong to space group R3 and contain two molecules of SmeHyuA per asymmetric unit. The crystals of the free and complexed SmeHyuA have unit-cell parameters a = b = 85.43, c = 152.37 Å and a = b = 85.69, c = 154.38 Å, crystal volumes per protein weight (V M ) of 1.94 and 1.98 Å 3 Da −1 and solvent contents of 36.7 and 37.9%, respectively

  9. Congenital yellow nail syndrome: a case report and its relationship to nonimmune fetal hydrops.

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    Nanda, Arti; Al-Essa, Fahad H; El-Shafei, Wael M; Alsaleh, Qasem A

    2010-01-01

    Yellow nail syndrome (YNS) is an uncommon disorder characterized by a triad of nail dystrophy, lymphedema, and pleural effusion. It is rare in children and congenital occurrence of YNS has been very rarely described. We report a 2-year-old Arab boy having congenital yellow nail syndrome with mild facial dysmorphism and bilateral conjunctival pigmentation born to consanguineous parents. One of his older siblings had died of nonimmune fetal hydrops (NIFH). The case supports the genetic basis of yellow nail syndrome with a possible relationship to nonimmune fetal hydrops. © 2010 Wiley Periodicals, Inc.

  10. Postnatal cranial ultrasonographic findings in feto-fetal transfusion syndrome.

    NARCIS (Netherlands)

    Breysem, L.; Naulaers, G.; Deprest, J.; Schoubroeck, D.V.; Daniels, H.; Lammens, M.M.Y.; Smet, M.H.

    2002-01-01

    Our objective was a retrospective evaluation of cranial US in survivors of twin pregnancy with feto-fetal transfusion syndrome (FFTS), with knowledge of prenatal treatment and neonatal/postnatal clinical data. In 18 pregnancies with FFTS (January 1996 to May 2000), pregnancy management and outcome,

  11. Bioactive Hydantoin Alkaloids from the Red Sea Marine Sponge Hemimycale arabica.

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    Youssef, Diaa T A; Shaala, Lamiaa A; Alshali, Khalid Z

    2015-10-28

    In the course of our continuing efforts to identify bioactive secondary metabolites from Red Sea marine invertebrates, we have investigated the sponge Hemimycale arabica. The antimicrobial fraction of an organic extract of the sponge afforded two new hydantoin alkaloids, hemimycalins A and B (2 and 3), together with the previously reported compound (Z)-5-(4-hydroxybenzylidene)imidazolidine-2,4-dione (1). The structures of the compounds were determined by extensive 1D and 2D NMR (COSY, HSQC and HMBC) studies and high-resolution mass spectral determinations. Hemimycalins A (2) and B (3) represent the first examples of the natural N-alkylated hydantoins from the sponge Hemimycale arabica. Compounds 1-3 displayed variable antimicrobial activities against E. coli, S. aureus, and C. albicans. In addition, compound 1 displayed moderate antiproliferative activity against the human cervical carcinoma (HeLa) cell line. These findings provide further insight into the chemical diversity as well as the biological activity of this class of compounds.

  12. Bioactive Hydantoin Alkaloids from the Red Sea Marine Sponge Hemimycale arabica

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    Diaa T. A. Youssef

    2015-10-01

    Full Text Available In the course of our continuing efforts to identify bioactive secondary metabolites from Red Sea marine invertebrates, we have investigated the sponge Hemimycale arabica. The antimicrobial fraction of an organic extract of the sponge afforded two new hydantoin alkaloids, hemimycalins A and B (2 and 3, together with the previously reported compound (Z-5-(4-hydroxybenzylideneimidazolidine-2,4-dione (1. The structures of the compounds were determined by extensive 1D and 2D NMR (COSY, HSQC and HMBC studies and high-resolution mass spectral determinations. Hemimycalins A (2 and B (3 represent the first examples of the natural N-alkylated hydantoins from the sponge Hemimycale arabica. Compounds 1–3 displayed variable antimicrobial activities against E. coli, S. aureus, and C. albicans. In addition, compound 1 displayed moderate antiproliferative activity against the human cervical carcinoma (HeLa cell line. These findings provide further insight into the chemical diversity as well as the biological activity of this class of compounds.

  13. Regulation of hydantoin-hydrolyzing enzyme expression in Agrobacterium tumefaciens strain RU-AE01.

    Science.gov (United States)

    Jiwaji, Meesbah; Dorrington, Rosemary Ann

    2009-10-01

    Optically pure D-: amino acids, like D-: hydroxyphenylglycine, are used in the semi-synthetic production of pharmaceuticals. They are synthesized industrially via the biocatalytic hydrolysis of p-hydroxyphenylhydantoin using enzymes derived from Agrobacterium tumefaciens strains. The reaction proceeds via a three-step pathway: (a) the ring-opening cleavage of the hydantoin ring by a D-: hydantoinase (encoded by hyuH), (b) conversion of the resultant D-: N-carbamylamino acid to the corresponding amino acid by a D-: N-carbamoylase (encoded by hyuC), and (c) chemical or enzymatic racemization of the un-reacted hydantoin substrate. While the structure and biochemical properties of these enzymes are well understood, little is known about their origin, their function, and their regulation in the native host. We investigated the mechanisms involved in the regulation of expression of the hydantoinase and N-carbamoylase enzyme activity in A. tumefaciens strain RU-AE01. We present evidence for a complex regulatory network that responds to the growth status of the cells, the presence of inducer, and nitrogen catabolite repression. Deletion analysis and site-directed mutagenesis were used to identify regulatory elements involved in transcriptional regulation of hyuH and hyuC expression. Finally, a comparison between the hyu gene clusters in several Agrobacterium strains provides insight into the function of D-: selective hydantoin-hydrolyzing enzyme systems in Agrobacterium species.

  14. Recurrent hydramnios as a result of fetal Bartter′s syndrome (a case report.

    Directory of Open Access Journals (Sweden)

    Shah M

    1991-04-01

    Full Text Available Bartter′s syndrome has been reported as a rare case of hydramnios. A unique case of recurrent hydramnios in pregnancy as a result of fetal Bartter′s syndrome on both occasions is presented.

  15. Prevention of fetal demise and growth restriction in a mouse model of fetal alcohol syndrome.

    Science.gov (United States)

    Spong, C Y; Abebe, D T; Gozes, I; Brenneman, D E; Hill, J M

    2001-05-01

    Two peptides [NAPVSIPQ (NAP) and SALLRSIPA (ADNF-9)], that are associated with novel glial proteins regulated by vasoactive intestinal peptide, are shown now to provide protective intervention in a model of fetal alcohol syndrome. Fetal demise and growth restrictions were produced after intraperitoneal injection of ethanol to pregnant mice during midgestation (E8). Death and growth abnormalities elicited by alcohol treatment during development are believed to be associated, in part, with severe oxidative damage. NAP and ADNF-9 have been shown to exhibit antioxidative and antiapoptotic actions in vitro. Pretreatment with an equimolar combination of the peptides prevented the alcohol-induced fetal death and growth abnormalities. Pretreatment with NAP alone resulted in a significant decrease in alcohol-associated fetal death; whereas ADNF-9 alone had no detectable effect on fetal survival after alcohol exposure, indicating a pharmacological distinction between the peptides. Biochemical assessment of the fetuses indicated that the combination peptide treatment prevented the alcohol-induced decreases in reduced glutathione. Peptide efficacy was evident with either 30-min pretreatment or with 1-h post-alcohol administration. Bioavailability studies with [(3)H]NAPVSIPQ indicated that 39% of the total radioactivity comigrated with intact peptide in the fetus 60 min after administration. These studies demonstrate that fetal death and growth restriction associated with prenatal alcohol exposure were prevented by combinatorial peptide treatment and suggest that this therapeutic strategy be explored in other models/diseases associated with oxidative stress.

  16. New gene cluster from the thermophile Bacillus fordii MH602 in the conversion of DL-5-substituted hydantoins to L-amino acids.

    Science.gov (United States)

    Mei, Yan-Zhen; Wan, Yong-Min; He, Bing-Fang; Ying, Han-Jie; Ouyang, Ping-Kai

    2009-12-01

    The thermophile Bacillus fordii MH602 was screened for stereospecifically hydrolyzing DL-5-substituted hydantoins to L-alpha-amino acids. Since the reaction at higher temperature, the advantageous for enhancement of substrate solubility and for racemization of DL-5-substituted hydantoins during the conversion were achieved. The hydantoin metabolism gene cluster from thermophile was firstly reported in this paper. The genes involved in hydantoin utilization (hyu) were isolated on an 8.2 kb DNA fragment by Restriction Site-dependent PCR, and six ORFs were identified by DNA sequence analysis. The hyu gene cluster contained four genes with novel cluster organization characteristics: the hydantoinase gene hyuH, putative transport protein hyuP, hyperprotein hyuHP, and L-carbamoylase gene hyuC. The hyuH and hyuC genes were heterogeneously expressed in E. coli. The results indicated that hyuH and hyuC are involved in the conversion of DL-5-substituted hydantoins to an N-carbamyl intermediate that is subsequently converted to L-alpha-amino acids. Hydantoinase and carbamoylase from B. fordii MH602 comparing respectively with reported hydantoinase and carbamoylase showed the highest identities of 71% and 39%. The novel cluster organization characteristics and the difference of the key enzymes between thermopile B. fordii MH602 and other mesophiles were presumed to be related to the evolutionary origins of concerned metabolism.

  17. Non-invasive prenatal cell-free fetal DNA testing for down syndrome and other chromosomal abnormalities

    Directory of Open Access Journals (Sweden)

    Darija Strah

    2015-12-01

    Full Text Available Background: Chorionic villus sampling and amniocentesis as definitive diagnostic procedures represent a gold standard for prenatal diagnosis of chromosomal abnormalities. The methods are invasive and lead to a miscarriage and fetal loss in approximately 0.5–1 %. Non-invasive prenatal DNA testing (NIPT is based on the analysis of cell-free fetal DNA from maternal blood. It represents a highly accurate screening test for detecting the most common fetal chromosomal abnormalities. In our study we present the results of NIPT testing in the Diagnostic Center Strah, Slovenia, over the last 3 years.Methods: In our study, 123 pregnant women from 11th to 18th week of pregnancy were included. All of them had First trimester assessment of risk for trisomy 21, done before NIPT testing.Results: 5 of total 6 high-risk NIPT cases (including 3 cases of Down syndrome and 2 cases of Klinefelter’s syndrome were confirmed by fetal karyotyping. One case–Edwards syndrome was false positive. Patau syndrome, triple X syndrome or Turner syndrome were not observed in any of the cases. Furthermore, there were no false negative cases reported. In general, NIPT testing had 100 % sensitivity (95 % confidence interval: 46.29 %–100.00 % and 98.95 % specificity (95 % confidence interval: 93.44 %–99.95 %. In determining Down syndrome alone, specificity (95 % confidence interval: 95.25 %- 100.00 % and sensitivity (95 % confidence interval: 31.00 %–100.00 % turned out to be 100 %. In 2015, the average turnaround time for analysis was 8.3 days from the day when the sample was taken. Repeated blood sampling was required in 2 cases (redraw rate = 1.6 %.Conclusions: Our results confirm that NIPT represents a fast, safe and highly accurate advanced screening test for most common chromosomal abnormalities. In current clinical practice, NIPT would significantly decrease the number of unnecessary invasive procedures and the rate of fetal

  18. Synthesis and Properties of New Polyamides Based on 4-Phenylenediacrylic Acid and Hydantoin Derivatives in the Main Chain

    OpenAIRE

    FAGHIHI, Khalil

    2008-01-01

    Six new polyamides (5a-f) containing p-phenylenediacrylic and hydantoin moieties in the main chain were prepared by direct polycondensation reaction of 4-phenylenediacrylic acid (3) with 6 different hydantoin derivatives (4a-f) using thionyl chloride and pyridine as condensing agents and N-methyl-2-pyrolidone as solvent. These new polymers (5a-f) were obtained in high yield and inherent viscosity between 0.35-0.55 dL/g. The resulting polyamides were characterized by elemental analysi...

  19. Molecular cloning and expression of the hyu genes from Microbacterium liquefaciens AJ 3912, responsible for the conversion of 5-substituted hydantoins to alpha-amino acids, in Escherichia coli.

    Science.gov (United States)

    Suzuki, Shun'ichi; Takenaka, Yasuhiro; Onishi, Norimasa; Yokozeki, Kenzo

    2005-08-01

    A DNA fragment from Microbacterium liquefaciens AJ 3912, containing the genes responsible for the conversion of 5-substituted-hydantoins to alpha-amino acids, was cloned in Escherichia coli and sequenced. Seven open reading frames (hyuP, hyuA, hyuH, hyuC, ORF1, ORF2, and ORF3) were identified on the 7.5 kb fragment. The deduced amino acid sequence encoded by the hyuA gene included the N-terminal amino acid sequence of the hydantoin racemase from M. liquefaciens AJ 3912. The hyuA, hyuH, and hyuC genes were heterologously expressed in E. coli; their presence corresponded with the detection of hydantoin racemase, hydantoinase, and N-carbamoyl alpha-amino acid amido hydrolase enzymatic activities respectively. The deduced amino acid sequences of hyuP were similar to those of the allantoin (5-ureido-hydantoin) permease from Saccharomyces cerevisiae, suggesting that hyuP protein might function as a hydantoin transporter.

  20. Neuromyelitis optica in pregnancy complicated by posterior reversible encephalopathy syndrome, eclampsia and fetal death.

    Science.gov (United States)

    Igel, Catherine; Garretto, Diana; Robbins, Matthew S; Swerdlow, Michael; Judge, Nancy; Dayal, Ashlesha

    2015-03-01

    Neuromyelitis optica (NMO) is a demyelinating syndrome characterized by optic neuritis and acute myelitis with poor recovery and a progressive course. We report a poor outcome complicated by posterior reversible encephalopathy syndrome (PRES) and eclampsia and review available literature and current evidence for anticipation of adverse fetal and maternal effects. After a pregnancy complicated by multiple admissions for painful NMO exacerbations, a primiparous patient with seropositive NMO presented at 31 + 3/7 weeks with eclampsia, HELLP and subsequent fetal death. MRI confirmed PRES. NMO may be associated with eclampsia and leads to adverse maternal and fetal outcomes. Posited mechanisms include antibody-mediated placental damage and a heightened risk of eclampsia-associated PRES. Further characterization of the course of NMO and its relationship with pregnancy outcomes in larger series would be invaluable.

  1. Maternal risk factors predicting child physical characteristics and dysmorphology in fetal alcohol syndrome and partial fetal alcohol syndrome.

    Science.gov (United States)

    May, Philip A; Tabachnick, Barbara G; Gossage, J Phillip; Kalberg, Wendy O; Marais, Anna-Susan; Robinson, Luther K; Manning, Melanie; Buckley, David; Hoyme, H Eugene

    2011-12-01

    Previous research in South Africa revealed very high rates of fetal alcohol syndrome (FAS), of 46-89 per 1000 among young children. Maternal and child data from studies in this community summarize the multiple predictors of FAS and partial fetal alcohol syndrome (PFAS). Sequential regression was employed to examine influences on child physical characteristics and dysmorphology from four categories of maternal traits: physical, demographic, childbearing, and drinking. Then, a structural equation model (SEM) was constructed to predict influences on child physical characteristics. Individual sequential regressions revealed that maternal drinking measures were the most powerful predictors of a child's physical anomalies (R² = .30, p < .001), followed by maternal demographics (R² = .24, p < .001), maternal physical characteristics (R²=.15, p < .001), and childbearing variables (R² = .06, p < .001). The SEM utilized both individual variables and the four composite categories of maternal traits to predict a set of child physical characteristics, including a total dysmorphology score. As predicted, drinking behavior is a relatively strong predictor of child physical characteristics (β = 0.61, p < .001), even when all other maternal risk variables are included; higher levels of drinking predict child physical anomalies. Overall, the SEM model explains 62% of the variance in child physical anomalies. As expected, drinking variables explain the most variance. But this highly controlled estimation of multiple effects also reveals a significant contribution played by maternal demographics and, to a lesser degree, maternal physical and childbearing variables. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  2. Up Front, in Hope: The Value of Early Intervention for Children with Fetal Alcohol Syndrome.

    Science.gov (United States)

    Harwood, Maureen; Kleinfeld, Judith Smilg

    2002-01-01

    Differentiates fetal alcohol syndrome (FAS) from fetal alcohol effects (FAE) and discusses difficulties in diagnosing these conditions. Describes the effects of FAS/FAE on young children, detailing impact on sensory processing, focusing attention, and cognitive development in infants, toddlers, and preschoolers. Presents suggestions for caregivers…

  3. Fetal alcohol syndrome among grade-one children in the Northern ...

    African Journals Online (AJOL)

    Objective. To describe the prevalence, characteristics and risk factors for fetal alcohol syndrome (FAS) and partial FAS among schoolgoing children in Grade 1 in Northern Cape Province, South Africa. Design. A cross-sectional study using a two-tiered method for ascertainment of FAS/partial FAS cases, comprising: ...

  4. New insights in the removal of the hydantoins, oxidation product of pyrimidines, via the base excision and nucleotide incision repair pathways.

    Directory of Open Access Journals (Sweden)

    Modesto Redrejo-Rodríguez

    Full Text Available BACKGROUND: Oxidative damage to DNA, if not repaired, can be both miscoding and blocking. These genetic alterations can lead to mutations and/or cell death, which in turn cause cancer and aging. Oxidized DNA bases are substrates for two overlapping repair pathways: base excision (BER and nucleotide incision repair (NIR. Hydantoin derivatives such as 5-hydroxyhydantoin (5OH-Hyd and 5-methyl-5-hydroxyhydantoin (5OH-5Me-Hyd, major products of cytosine and thymine oxidative degradation pathways, respectively, have been detected in cancer cells and ancient DNA. Hydantoins are blocking lesions for DNA polymerases and excised by bacterial and yeast DNA glycosylases in the BER pathway. However little is known about repair of pyrimidine-derived hydantoins in human cells. METHODOLOGY/PRINCIPAL FINDINGS: Here, using both denaturing PAGE and MALDI-TOF MS analyses we report that the bacterial, yeast and human AP endonucleases can incise duplex DNA 5' next to 5OH-Hyd and 5OH-5Me-Hyd thus initiating the NIR pathway. We have fully reconstituted the NIR pathway for these lesions in vitro using purified human proteins. Depletion of Nfo in E. coli and APE1 in HeLa cells abolishes the NIR activity in cell-free extracts. Importantly, a number of redundant DNA glycosylase activities can excise hydantoin residues, including human NTH1, NEIL1 and NEIL2 and the former protein being a major DNA glycosylase activity in HeLa cells extracts. CONCLUSIONS/SIGNIFICANCE: This study demonstrates that both BER and NIR pathways can compete and/or back-up each other to remove hydantoin DNA lesions in vivo.

  5. 77 FR 42768 - Leadership Meeting on Maternal, Fetal, and Infant Opioid Exposure and Neonatal Abstinence Syndrome

    Science.gov (United States)

    2012-07-20

    ... OFFICE OF NATIONAL DRUG CONTROL POLICY Leadership Meeting on Maternal, Fetal, and Infant Opioid Exposure and Neonatal Abstinence Syndrome AGENCY: Office of National Drug Control Policy. ACTION: Notice. SUMMARY: An ONDCP Leadership Meeting on Maternal, Fetal and Infant Opioid Exposure and Neonatal Abstinence...

  6. Zika Fetal Neuropathogenesis: Etiology of a Viral Syndrome.

    Directory of Open Access Journals (Sweden)

    Zachary A Klase

    2016-08-01

    Full Text Available The ongoing Zika virus epidemic in the Americas and the observed association with both fetal abnormalities (primary microcephaly and adult autoimmune pathology (Guillain-Barré syndrome has brought attention to this neglected pathogen. While initial case studies generated significant interest in the Zika virus outbreak, larger prospective epidemiology and basic virology studies examining the mechanisms of Zika viral infection and associated pathophysiology are only now starting to be published. In this review, we analyze Zika fetal neuropathogenesis from a comparative pathology perspective, using the historic metaphor of "TORCH" viral pathogenesis to provide context. By drawing parallels to other viral infections of the fetus, we identify common themes and mechanisms that may illuminate the observed pathology. The existing data on the susceptibility of various cells to both Zika and other flavivirus infections are summarized. Finally, we highlight relevant aspects of the known molecular mechanisms of flavivirus replication.

  7. Zika Fetal Neuropathogenesis: Etiology of a Viral Syndrome

    Science.gov (United States)

    Klase, Zachary A.; Khakhina, Svetlana; Schneider, Adriano De Bernardi; Callahan, Michael V.; Glasspool-Malone, Jill

    2016-01-01

    The ongoing Zika virus epidemic in the Americas and the observed association with both fetal abnormalities (primary microcephaly) and adult autoimmune pathology (Guillain–Barré syndrome) has brought attention to this neglected pathogen. While initial case studies generated significant interest in the Zika virus outbreak, larger prospective epidemiology and basic virology studies examining the mechanisms of Zika viral infection and associated pathophysiology are only now starting to be published. In this review, we analyze Zika fetal neuropathogenesis from a comparative pathology perspective, using the historic metaphor of “TORCH” viral pathogenesis to provide context. By drawing parallels to other viral infections of the fetus, we identify common themes and mechanisms that may illuminate the observed pathology. The existing data on the susceptibility of various cells to both Zika and other flavivirus infections are summarized. Finally, we highlight relevant aspects of the known molecular mechanisms of flavivirus replication. PMID:27560129

  8. Evidence of cardiac involvement in the fetal inflammatory response syndrome: disruption of gene networks programming cardiac development in nonhuman primates.

    Science.gov (United States)

    Mitchell, Timothy; MacDonald, James W; Srinouanpranchanh, Sengkeo; Bammler, Theodor K; Merillat, Sean; Boldenow, Erica; Coleman, Michelle; Agnew, Kathy; Baldessari, Audrey; Stencel-Baerenwald, Jennifer E; Tisoncik-Go, Jennifer; Green, Richard R; Gale, Michael J; Rajagopal, Lakshmi; Adams Waldorf, Kristina M

    2018-04-01

    Most early preterm births are associated with intraamniotic infection and inflammation, which can lead to systemic inflammation in the fetus. The fetal inflammatory response syndrome describes elevations in the fetal interleukin-6 level, which is a marker for inflammation and fetal organ injury. An understanding of the effects of inflammation on fetal cardiac development may lead to insight into the fetal origins of adult cardiovascular disease. The purpose of this study was to determine whether the fetal inflammatory response syndrome is associated with disruptions in gene networks that program fetal cardiac development. We obtained fetal cardiac tissue after necropsy from a well-described pregnant nonhuman primate model (pigtail macaque, Macaca nemestrina) of intrauterine infection (n=5) and controls (n=5). Cases with the fetal inflammatory response syndrome (fetal plasma interleukin-6 >11 pg/mL) were induced by either choriodecidual inoculation of a hypervirulent group B streptococcus strain (n=4) or intraamniotic inoculation of Escherichia coli (n=1). RNA and protein were extracted from fetal hearts and profiled by microarray and Luminex (Millipore, Billerica, MA) for cytokine analysis, respectively. Results were validated by quantitative reverse transcriptase polymerase chain reaction. Statistical and bioinformatics analyses included single gene analysis, gene set analysis, Ingenuity Pathway Analysis (Qiagen, Valencia, CA), and Wilcoxon rank sum. Severe fetal inflammation developed in the context of intraamniotic infection and a disseminated bacterial infection in the fetus. Interleukin-6 and -8 in fetal cardiac tissues were elevated significantly in fetal inflammatory response syndrome cases vs controls (P1.5-fold change, P<.05) in the fetal heart (analysis of variance). Altered expression of select genes was validated by quantitative reverse transcriptase polymerase chain reaction that included several with known functions in cardiac injury, morphogenesis

  9. Linkage of regulators of TGF-β activity in the fetal ovary to polycystic ovary syndrome

    Science.gov (United States)

    Hatzirodos, Nicholas; Bayne, Rosemary A.; Irving-Rodgers, Helen F.; Hummitzsch, Katja; Sabatier, Laetitia; Lee, Sam; Bonner, Wendy; Gibson, Mark A.; Rainey, William E.; Carr, Bruce R.; Mason, Helen D.; Reinhardt, Dieter P.; Anderson, Richard A.; Rodgers, Raymond J.

    2011-01-01

    Although not often discussed, the ovaries of women with polycystic ovary syndrome (PCOS) show all the hallmarks of increased TGF-β activity, with increased amounts of fibrous tissue and collagen in the ovarian capsule or tunica albuginea and ovarian stroma. Recent studies suggest that PCOS could have fetal origins. Genetic studies of PCOS have also found linkage with a microsatellite located in intron 55 of the extracellular matrix protein fibrillin 3. Fibrillins regulate TGF-β bioactivity in tissues by binding latent TGF-β binding proteins. We therefore examined expression of fibrillins 1–3, latent TGF-β binding proteins 1–4, and TGF-β 1–3 in bovine and human fetal ovaries at different stages of gestation and in adult ovaries. We also immunolocalized fibrillins 1 and 3. The results indicate that TGF-β pathways operate during ovarian fetal development, but most important, we show fibrillin 3 is present in the stromal compartments of fetal ovaries and is highly expressed at a critical stage early in developing human and bovine fetal ovaries when stroma is expanding and follicles are forming. These changes in expression of fibrillin 3 in the fetal ovary could lead to a predisposition to develop PCOS in later life.—Hatzirodos, N., Bayne, R. A., Irving-Rodgers, H. F., Hummitzsch, K., Sabatier, L., Lee, S., Bonner, W., Gibson, M. A., Rainey, W. E., Carr, B. R., Mason, H. D., Reinhardt, D. P., Anderson, R. A., Rodgers, R. J. Linkage of regulators of TGF-β activity in the fetal ovary to polycystic ovary syndrome. PMID:21411746

  10. Risk of Fetal Loss Associated With Invasive Testing Following Combined First-Trimester Screening for Down Syndrome

    DEFF Research Database (Denmark)

    Wulff, C. B.; Gerds, T. A.; Rode, L.

    2016-01-01

    from being based on maternal age to combined first-trimester screening (cFTS) for trisomy 21. The aim of the study was to assess prospectively the risk of fetal loss associated with CVS and AC after cFTS for Down syndrome. A nationwide population-based study (Danish Fetal Medicine Database, 2008...

  11. Evaluation of spiropiperidine hydantoins as a novel class of antimalarial agents.

    Science.gov (United States)

    Meyers, Marvin J; Anderson, Elizabeth J; McNitt, Sarah A; Krenning, Thomas M; Singh, Megh; Xu, Jing; Zeng, Wentian; Qin, Limei; Xu, Wanwan; Zhao, Siting; Qin, Li; Eickhoff, Christopher S; Oliva, Jonathan; Campbell, Mary A; Arnett, Stacy D; Prinsen, Michael J; Griggs, David W; Ruminski, Peter G; Goldberg, Daniel E; Ding, Ke; Liu, Xiaorong; Tu, Zhengchao; Tortorella, Micky D; Sverdrup, Francis M; Chen, Xiaoping

    2015-08-15

    Given the rise of parasite resistance to all currently used antimalarial drugs, the identification of novel chemotypes with unique mechanisms of action is of paramount importance. Since Plasmodium expresses a number of aspartic proteases necessary for its survival, we have mined antimalarial datasets for drug-like aspartic protease inhibitors. This effort led to the identification of spiropiperidine hydantoins, bearing similarity to known inhibitors of the human aspartic protease β-secretase (BACE), as new leads for antimalarial drug discovery. Spiropiperidine hydantoins have a dynamic structure-activity relationship profile with positions identified as being tolerant of a variety of substitution patterns as well as a key piperidine N-benzyl phenol pharmacophore. Lead compounds 4e (CWHM-123) and 12k (CWHM-505) are potent antimalarials with IC50 values against Plasmodium falciparum 3D7 of 0.310 μM and 0.099 μM, respectively, and the former features equivalent potency on the chloroquine-resistant Dd2 strain. Remarkably, these compounds do not inhibit human aspartic proteases BACE, cathepsins D and E, or Plasmodium plasmepsins II and IV despite their similarity to known BACE inhibitors. Although the current leads suffer from poor metabolic stability, they do fit into a drug-like chemical property space and provide a new class of potent antimalarial agents for further study. Copyright © 2015 Elsevier Ltd. All rights reserved.

  12. Prenatal management and perinatal outcome in giant placental chorioangioma complicated with hydrops fetalis, fetal anemia and maternal mirror syndrome

    Directory of Open Access Journals (Sweden)

    García-Díaz Lutgardo

    2012-07-01

    Full Text Available Abstract Background Giant placental chorioangiomas have been associated with a number of severe fetal complications and high perinatal mortality. Case presentation We report a case of giant chorioangioma with fetal hydrops, additionally complicated by severe anemia, mild cardiomegaly with hyperdinamic heart circulation and maternal mirror syndrome. Intrauterine blood transfusion and amniodrainage was performed at 29 weeks. Worsening of the fetal and maternal condition prompted us to proceed with delivery at 29 + 5 weeks. The newborn died 3 hours later due to pulmonary hypoplasia and hemodynamic failure. Maternal course was favourable, mirror syndrome resolved in the second day and the patient was discharged four days following delivery. Conclusions In the case described here, fetal condition got worse despite of the anemia correction and amniodrainage. Our outcome raises the issue whether additional intrauterine clinical intervention, as intersticial laser, should have been performed to stop further deterioration of the fetal condition when progressive severe hydrops develops.

  13. Fetal alcohol syndrome – causes, diagnostic criteria and prevalence

    OpenAIRE

    Agata Horecka-Lewitowicz; Piotr Lewitowicz; Olga Adamczyk-Gruszka; Dariusz Skawiński; Monika Szpringer

    2014-01-01

    Fetal alcohol syndrome (FAS) is the outcome of alcohol exposition in the prenatal period. It is irreversible. In Poland, FAS is becoming more and more common, the diagnostic tools are limited though. It is recommended to use the 4-Digit Diagnostic Code, which evaluates the 4 basic FAS symptoms: growth retardation, dysmorphic appearance, damage to the central nervous system and prenatal alcohol exposure. It has been confirmed that there is no safe amount of alcohol for a mother to drink while ...

  14. Organization of genes responsible for the stereospecific conversion of hydantoins to alpha-amino acids in Arthrobacter aurescens DSM 3747.

    Science.gov (United States)

    Wiese, A; Syldatk, C; Mattes, R; Altenbuchner, J

    2001-09-01

    Arthrobacter aurescens DSM 3747 hydrolyzes stereospecifically 5'-monosubstituted hydantoins to alpha-amino acids. The genes involved in hydantoin utilization (hyu) were isolated on an 8.7-kb DNA fragment, and by DNA sequence analysis eight ORFs were identified. The hyu gene cluster includes four genes: hyuP encoding a putative transport protein, the hydantoin racemase gene hyuA, the hydantoinase gene hyuH, and the carbamoylase gene hyuC. The four genes are transcribed in the same direction. Upstream of hyuP and in opposite orientation to the hyu genes, three ORFs were found showing similarities to cytochrome P450 monooxygenase (ORF1, incomplete), to membrane proteins (ORF2), and to ferredoxin (ORF3). ORF8 was found downstream of hyuC and again in opposite orientation to the hyu genes. The gene product of ORF8 displayed similarities to the LacI/GalR family of transcriptional regulators. Reverse transcriptase PCR experiments and Northern blot analysis revealed that the genes hyuPAHC are coexpressed in A. aurescens after induction with 3-N-CH3-IMH. The expression of the hyu operon was not regulated by the putative regulator ORF8 as shown by gene disruption and mobility-shift experiments.

  15. A Case of Alloimmune Thrombocytopenia, Hemorrhagic Anemia-Induced Fetal Hydrops, Maternal Mirror Syndrome, and Human Chorionic Gonadotropin–Induced Thyrotoxicosis

    Directory of Open Access Journals (Sweden)

    Venu Jain

    2013-05-01

    Full Text Available Fetal/neonatal alloimmune thrombocytopenia (FNAIT can be a cause of severe fetal thrombocytopenia, with the common presentation being intracranial hemorrhage in the fetus, usually in the third trimester. A very unusual case of fetal anemia progressed to hydrops. This was further complicated by maternal Mirror syndrome and human chorionic gonadotropin–induced thyrotoxicosis. Without knowledge of etiology, and possibly due to associated cardiac dysfunction, fetal transfusion resulted in fetal demise. Subsequent testing revealed FNAIT as the cause of severe hemorrhagic anemia. In cases with fetal anemia without presence of red blood cell antibodies, FNAIT must be ruled out as a cause prior to performing fetal transfusion. Fetal heart may adapt differently to acute hemorrhagic anemia compared with a more subacute hemolytic anemia.

  16. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies.

    Science.gov (United States)

    Neri, G; Martini-Neri, M E; Katz, B E; Opitz, J M

    1984-09-01

    We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed.

  17. Silver(I) complexes with hydantoins and allantoin: synthesis, crystal and molecular structure, cytotoxicity and pharmacokinetics.

    Science.gov (United States)

    Puszyńska-Tuszkanow, Mariola; Grabowski, Tomasz; Daszkiewicz, Marek; Wietrzyk, Joanna; Filip, Beata; Maciejewska, Gabriela; Cieślak-Golonka, Maria

    2011-01-01

    Coordination polymers [Ag(L(1,3))](n) (L(1)=hydantoin, L(3)=5,5-dimethylhydantoin), {[Ag(L(2))](.)0.5H(2)O}(n) (L(2)=1-methylhydantoin) and [Ag(NH(3))(L(4))](n) (L(4)=allantoin) were prepared and characterized by elemental analysis, spectroscopic (IR, FTIR and NMR), thermal and mass spectrometry methods. The crystal structure of {[Ag(1-methylhydantoin)]·0,5H(2)O}(n) was determined and analyzed. Three 1-methylhydantoinate ligands create a T-shape (CN=3) coordination sphere around the Ag(+) ion. Additionally, a short Ag⋯Ag distance of 2.997Å was found in the structure resulting in the expanded [3+2] environment of a distorted square shape. The [Ag(L(2))] entities are bound to each other by the bridging organic ligands. Thus a two-dimensional coordination polymer is created with water molecules located between the layers. In contrast to hydantoins, the allantoin complex contains an additional ammonia molecule in the coordination sphere. Moreover, in the Ag-alla complex the M-organic ligand binding site is shifted to the N-atom of the ureid chain. Free ligands are cytotoxically inactive against human MCF-7 and A549 cancer cell lines and mouse fibroblasts Balb/3T3. The silver hydantoin complexes exhibit a very strong activity against these lines. (The introduction of the methyl groups to the ring slightly increases resistance only against the A549 cell line.) In contrast, the silver complex of allantoin shows only a weak activity which may be related to the presence of the cytotoxic ammonia group in the composition of the compound and/or the different binding site of the ligand. Calculated in silico physiochemical parameters are promising for the future application of the complexes as drugs. Copyright © 2010 Elsevier Inc. All rights reserved.

  18. Maternal risk factors in fetal alcohol syndrome: provocative and permissive influences.

    Science.gov (United States)

    Abel, E L; Hannigan, J H

    1995-01-01

    We present an hypothesis integrating epidemiological, clinical case, and basic biomedical research to explain why only relatively few women who drink alcohol during pregnancy give birth to children with alcohol-related birth defects (ARBDs), in particular, Fetal Alcohol Syndrome (FAS). We argue that specific sociobehavioral risk factors, e.g., low socioeconomic status, are permissive for FAS in that they provide the context for increased vulnerability. We illustrate how these permissive factors are related to biological factors, e.g., decreased antioxidant status, which in conjunction with alcohol, provoke FAS/ARBDs in vulnerable fetuses. We propose an integrative heuristic model hypothesizing that these permissive and provocative factors increase the likelihood of FAS/ARBDs because they potentiate two related mechanisms of alcohol-induced teratogenesis, specifically, maternal/fetal hypoxia and free radical formation.

  19. The synthesis of some 11C-labelled antiepileptic drugs with potential utility as radiopharmaceuticals: hydantoins and barbiturates

    International Nuclear Information System (INIS)

    Roeda, D.; Westera, G.

    1981-01-01

    11 C-labelled phenytoin and 5-ethyl-5-phenyl hydantoin were prepared using 11 COCl 2 as the starting material. 11 C-urea was used to produce 11 C-phenobarbital and 11 C-barbital. The methods developed are suitable for automation in a lead shielded cell. (author)

  20. Androgen excess fetal programming of female reproduction: a developmental aetiology for polycystic ovary syndrome?

    Science.gov (United States)

    Abbott, D H; Barnett, D K; Bruns, C M; Dumesic, D A

    2005-01-01

    The aetiology of polycystic ovary syndrome (PCOS) remains unknown. This familial syndrome is prevalent among reproductive-aged women and its inheritance indicates a dominant regulatory gene with incomplete penetrance. However, promising candidate genes have proven unreliable as markers for the PCOS phenotype. This lack of genetic linkage may represent both extreme heterogeneity of PCOS and difficulty in establishing a universally accepted PCOS diagnosis. Nevertheless, hyperandrogenism is one of the most consistently expressed PCOS traits. Animal models that mimic fetal androgen excess may thus provide unique insight into the origins of the PCOS syndrome. Many female mammals exposed to androgen excess in utero or during early post-natal life typically show masculinized and defeminized behaviour, ovulatory dysfunction and virilized genitalia, although behavioural and ovulatory dysfunction can coexist without virilized genitalia based upon the timing of androgen excess. One animal model shows particular relevance to PCOS: the prenatally androgenized female rhesus monkey. Females exposed to androgen excess early in gestation exhibit hyperandrogenism, oligomenorrhoea and enlarged, polyfollicular ovaries, in addition to LH hypersecretion, impaired embryo development, insulin resistance accompanying abdominal obesity, impaired insulin response to glucose and hyperlipidaemia. Female monkeys exposed to androgen excess late in gestation mimic these programmed changes, except for LH and insulin secretion defects. In utero androgen excess may thus variably perturb multiple organ system programming and thereby provide a single, fetal origin for a heterogeneous adult syndrome.

  1. Fetal Valproate Syndrome with Limb Defects: An Indian Case Report

    Directory of Open Access Journals (Sweden)

    Manisha Goyal

    2016-01-01

    Full Text Available Epilepsy is a common disorder and exposure to antiepileptic drugs during pregnancy increases the risk of teratogenicity. Older AEDs such as valproate and phenobarbital are associated with a higher risk of major malformations in the fetus than newer AEDs like lamotrigine and levetiracetam. Exposure to valproic acid during first trimester can result in fetal valproate syndrome (FVS, comprising typical facial features, developmental delay, and a variety of malformations such as neural tube defects, cardiac and genitourinary malformations, and limb defects. We are presenting an Indian case of FVS with major limb defects.

  2. Magnetic resonance imaging (MRI) findings among children with fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (pFAS) and alcohol related neurodevelopmental disorders (ARND).

    Science.gov (United States)

    Anna Dyląg, Katarzyna; Sikora-Sporek, Aleksanda; Bańdo, Bożena; Boroń-Zyss, Joanna; Drożdż, Dorota; Dumnicka, Paulina; Przybyszewska, Katarzyna; Sporek, Mateusz; Walocha, Jerzy W; Wojciechowski, Wadim; Urbanik, Andrzej

    The aim of the study was to analyze the findings in MRI (magnetic resonance imaging) of the brain amongst children diagnosed with fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (pFAS) or alcohol related neurodevelopmental disorders (ARND). The issue has been studied in several researches previously but the experts agree that there is still few data on the MRI results in the group of younger children. MRI results of 121 patients with either FAS or pFAS or ARND diagnosed with Canadian criteria were analyzed regarding the presence of abnormalities. The group consisted of 71 patients diagnosed with FAS, 33 diagnosed with pFAS and 17 diagnosed with ARND. The mean age of the patients was 8.03 years (standard deviation 4.07). In the total group of FASD patients 61.98% of the patients’ MRI results were abnormal. The most common abnormality in MRI of the patients were demyelination plaques (incidence 23.1%) and corpus callosum narrowing (20.7%) as well as ventricular asymmetry (18.8%).The demyelination plaques and corpus callosum narrowing were more frequent among children ≤4 years old (41.7% vs 18.6%; p=0.016 and 50.0% vs.13.4%; ppFAS and ARND. Both age ≤4 years and FAS diagnosis were independent predictors for multiple anomalies in multiple logistic regression. In structural brain MRI of younger children, multiple anomalies were found more frequently than among older children. Demyelination plaques and corpus callosum narrowing were more common in younger FASD patients than in older ones.

  3. The effectiveness of a multimedia program to prevent fetal alcohol syndrome.

    Science.gov (United States)

    Lachausse, Robert G

    2008-07-01

    Fetal alcohol syndrome (FAS) continues to be the leading preventable cause of mental retardation in the United States. Because abstaining from alcohol prior to and throughout pregnancy is the only way to prevent FAS, some prevention programs try to target women before they become pregnant. The Fetal Alcohol Spectrum Teaching and Research Awareness Campaign (FASTRAC) is a multimedia, peer-delivered educational presentation designed to reduce the incidence of FAS. Results from an ethnically diverse sample of high school students indicate that the program increased participants' knowledge regarding FAS but had no significant effect on participants' attitudes, beliefs about the dangers of FAS or intention to use alcohol during pregnancy. The FASTRAC program failed partly because of its didactic approach and the lack of health education principles that have been shown to be effective in changing other substance use behaviors. Suggestions for improving FAS prevention education programs are offered.

  4. Cushing's syndrome and fetal features resurgence in adrenal cortex-specific Prkar1a knockout mice.

    Directory of Open Access Journals (Sweden)

    Isabelle Sahut-Barnola

    2010-06-01

    Full Text Available Carney complex (CNC is an inherited neoplasia syndrome with endocrine overactivity. Its most frequent endocrine manifestation is primary pigmented nodular adrenocortical disease (PPNAD, a bilateral adrenocortical hyperplasia causing pituitary-independent Cushing's syndrome. Inactivating mutations in PRKAR1A, a gene encoding the type 1 alpha-regulatory subunit (R1alpha of the cAMP-dependent protein kinase (PKA have been found in 80% of CNC patients with Cushing's syndrome. To demonstrate the implication of R1alpha loss in the initiation and development of PPNAD, we generated mice lacking Prkar1a specifically in the adrenal cortex (AdKO. AdKO mice develop pituitary-independent Cushing's syndrome with increased PKA activity. This leads to autonomous steroidogenic genes expression and deregulated adreno-cortical cells differentiation, increased proliferation and resistance to apoptosis. Unexpectedly, R1alpha loss results in improper maintenance and centrifugal expansion of cortisol-producing fetal adrenocortical cells with concomitant regression of adult cortex. Our data provide the first in vivo evidence that loss of R1alpha is sufficient to induce autonomous adrenal hyper-activity and bilateral hyperplasia, both observed in human PPNAD. Furthermore, this model demonstrates that deregulated PKA activity favors the emergence of a new cell population potentially arising from the fetal adrenal, giving new insight into the mechanisms leading to PPNAD.

  5. The Sherlock Holmes approach to diagnosing fetal syndromes by ultrasound.

    Science.gov (United States)

    Benacerraf, Beryl B

    2012-03-01

    Prenatal detection of fetal anomalies is one of the major goals of obstetrical ultrasound. The primary reason is the options that are often offered to the family and caregivers from therapy in selected cases to special care at delivery to termination of the pregnancy. An important aspect of the diagnosis is to determine whether the anomaly is expected to be lethal or associated with severe physical or mental impediments. This goal is often difficult to accomplish without a clear diagnosis. A systematic approach is essential when an abnormality is first identified sonographically to help the practitioner discover certain patterns of associated defects. The use of this logical and stepwise strategy facilitates arriving at the correct diagnosis of specific syndrome by taking all anatomic findings into account. This process focuses on first pinpointing a key or sentinel feature specific to each syndrome and which can anchor the diagnosis.

  6. Neurodevelopmental Outcome in Children after Fetal Cardiac Intervention for Aortic Stenosis with Evolving Hypoplastic Left Heart Syndrome.

    Science.gov (United States)

    Laraja, Kristin; Sadhwani, Anjali; Tworetzky, Wayne; Marshall, Audrey C; Gauvreau, Kimberlee; Freud, Lindsay; Hass, Cara; Dunbar-Masterson, Carolyn; Ware, Janice; Lafranchi, Terra; Wilkins-Haug, Louise; Newburger, Jane W

    2017-05-01

    To characterize neurodevelopmental outcomes after fetal aortic valvuloplasty for evolving hypoplastic left heart syndrome and determine the risk factors for adverse neurodevelopment. Questionnaires were mailed to families of children who underwent fetal aortic valvuloplasty from 2000 to 2012, and medical records were reviewed retrospectively. The primary outcome was the General Adaptive Composite score of the Adaptive Behavior Assessment System Questionnaire-Second Edition. Other questionnaires included the Behavior Assessment System for Children, Behavior Rating Inventory of Executive Function, Ages and Stages, and Pediatric Quality of Life Inventory. Among 69 eligible subjects, 52 (75%) completed questionnaires at median age of 5.5 (range 1.3-12) years; 30 (58%) had biventricular status circulation. The General Adaptive Composite mean score (92 ± 17) was lower than population norms (P neurodevelopmental questionnaires (Behavior Assessment System for Children, Behavior Rating Inventory of Executive Function, Ages and Stages, Pediatric Quality of Life Inventory), most subscale scores for patients with biventricular and single ventricular status were similar. Children who underwent fetal aortic valvuloplasty have neurodevelopmental delay, similar to patients with hypoplastic left heart syndrome without fetal intervention. Achievement of biventricular circulation was not associated with better outcomes. We infer that innate patient factors and morbidity during infancy have the greatest effect on neurodevelopmental outcomes. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Bicuspid aortic valve morphology and associated cardiovascular abnormalities in fetal Turner syndrome: a pathomorphological study

    NARCIS (Netherlands)

    van Engelen, Klaartje; Bartelings, Margot M.; Gittenberger-de Groot, Adriana C.; Baars, Marieke J. H.; Postma, Alex V.; Bijlsma, Emilia K.; Mulder, Barbara J. M.; Jongbloed, Monique R. M.

    2014-01-01

    Bicuspid aortic valve (BAV) is common in Turner syndrome (TS). In adult TS, 82-95% of BAVs have fusion of the right and left coronary leaflets. Data in fetal stages are scarce. The purpose of this study was to gain insight into aortic valve morphology and associated cardiovascular abnormalities in a

  8. Reduced cell number in the neocortical part of the human fetal brain in Down syndrome

    DEFF Research Database (Denmark)

    Larsen, K.B.; Laursen, H.; Graem, N.

    2008-01-01

    Mental retardation is seen in all individuals with Down syndrome (DS) and different brain abnormalities are reported. The aim of this study was to investigate if mental retardation at least in part is a result of a lower cell number in the neocortical part of the human fetal forebrain. We therefore...

  9. Płodowy zespół alkoholowy (FAS jako zagrożenie dla rozwoju dziecka = Fetal alcohol syndrom (FAS as threat to a child’s development

    Directory of Open Access Journals (Sweden)

    Aneta Sylwia Baranowska

    2016-03-01

    1Uniwersytet im. Adama Mickiewicza w Poznaniu; Wydział Studiów Edukacyjnych; e-mail: anet.bar@gmail.com   Streszczenie Celem artykułu jest dokonanie charakterystyki płodowego zespołu alkoholowego, będącego konsekwencją spożywania przez matkę alkoholu w trakcie ciąży. Badania eksperymentalne wykazały, że alkohol etylowy przenika swobodnie przez barierę łożyskową z organizmu matki do krwiobiegu płodu, intensyfikując ryzyko powstania tzw. poalkoholowego spektrum zaburzeń rozwojowych (fetal alkohol spectrum disorder, w skrócie FASD. Jednym z nich jest płodowy zespół alkoholowy (fetal alkohol syndrom, przejawiający się u dzieci odmiennością w budowie ciała oraz zaburzeniami funkcjonowania. Bardzo ważna jest jego wczesna diagnoza, a w przypadku jego rozpoznania skuteczna pomoc psychologiczno-pedagogiczna dzieciom nim dotkniętym. Słowa klucze: poalkoholowe spektrum zaburzeń rozwojowych, płodowy zespół alkoholowy, diagnoza, pomoc psychologiczno-pedagogiczna, profilaktyka. Summary The aim of this article is to characterize fetal alcohol syndrom (FAS, which is a consequence of drinking alcohol during pregnancy by a mother. Experimental research has shown that ethanol crosses the placenta barrier between a mother and a child's blood circulation, intensifying the risk of fetal alcohol spectrum disorder, in short FASD. One of the disorder is  fetal alcohol syndrom which manifests itself in difference in body composition and functioning disorders. Early diagnosis is extremely important, as well as effective psychological and pedagogical help for the children diagnosed with FAS. Key words: fetal alcohol spectrum disorder, fetal alcohol syndrom, psycho-pedagogical help, diagnosis, prevention.

  10. A Novel Mutation on RAF1 in Association with Fetal Findings Suggestive of Noonan Syndrome.

    Science.gov (United States)

    Kneitel, Anna W; Norby, Audrey; Vettraino, Ivana; Treadwell, Marjorie C

    2015-01-01

    Noonan syndrome is a multisystem genetic disorder caused by genes encoding proteins involved in the RAS-MAPK pathway. Affected fetuses have variable presentations ranging from the absence of prenatal findings to increased nuchal fold, cystic hygromas, pleural effusions, cardiac malformations, or skin edema. We describe a male fetus who had features consistent with Noonan syndrome at the time of fetal anatomic survey, including hydrops and a possible cardiac defect. Subsequent scan revealed persistent bilateral pleural effusions (with predominance of lymphocytes). After bilateral thoracoamniotic shunt placement, the fetus did well and delivered at term. Prenatal testing revealed an S650F missense mutation in the RAF1 gene, which had not previously been associated with Noonan syndrome.

  11. Complement inhibition by hydroxychloroquine prevents placental and fetal brain abnormalities in antiphospholipid syndrome.

    Science.gov (United States)

    Bertolaccini, Maria Laura; Contento, Gregorio; Lennen, Ross; Sanna, Giovanni; Blower, Philip J; Ma, Michelle T; Sunassee, Kavitha; Girardi, Guillermina

    2016-12-01

    Placental ischemic disease and adverse pregnancy outcomes are frequently observed in patients with antiphospholipid syndrome (APS). Despite the administration of conventional antithrombotic treatment a significant number of women continue to experience adverse pregnancy outcomes, with uncertain prevention and management. Efforts to develop effective pharmacological strategies for refractory obstetric APS cases will be of significant clinical benefit for both mothers and fetuses. Although the antimalarial drug, hydroxychloroquine (HCQ) is increasingly used to treat pregnant women with APS, little is known about its efficacy and mechanism of action of HCQ. Because complement activation plays a crucial and causative role in placental ischemia and abnormal fetal brain development in APS we hypothesised that HCQ prevents these pregnancy complications through inhibition of complement activation. Using a mouse model of obstetric APS that closely resembles the clinical condition, we found that HCQ prevented fetal death and the placental metabolic changes -measured by proton magnetic resonance spectroscopy in APS-mice. Using 111 In labelled antiphospholipid antibodies (aPL) we identified the placenta and the fetal brain as the main organ targets in APS-mice. Using this same method, we found that HCQ does not inhibit aPL binding to tissues as was previously suggested from in vitro studies. While HCQ did not affect aPL binding to fetal brain it prevented fetal brain abnormal cortical development. HCQ prevented complement activation in vivo and in vitro. Complement C5a levels in serum samples from APS patients and APS-mice were lower after treatment with HCQ while the antibodies titres remained unchanged. HCQ prevented not only placental insufficiency but also abnormal fetal brain development in APS. By inhibiting complement activation, HCQ might also be an effective antithrombotic therapy. Copyright © 2016 Elsevier Ltd. All rights reserved.

  12. [Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities].

    Science.gov (United States)

    Jiang, Y L; Qi, Q W; Zhou, X Y; Geng, F F; Bai, J J; Hao, N; Liu, J T

    2017-10-25

    Objectives: To analyze 3 cases of 17q12 microdeletion syndrome diagnosed prenatally, and to demonstrate clinical phenotype of the syndrome in prenatal setting. Methods: From January 2013 to July 2017, 1 370 women received invasive prenatal diagnosis and chromosome microarray analysis (CMA) in Peking Union Medical College Hospital. Among them, 3 fetuses were diagnosed as 17q12 microdeletion syndrome. All 3 cases were low-risk pregnancies. Abnormal structures in fetal kidney were found in all 3 cases, including 1 case of multiple renal cysts, 2 cases of bilateral hyperechogenic kidneys. These women accepted invasive prenatal diagnosis followed by karyotyping, parental fluorescence in situ hybridization or CMA validation. Results: The second and third trimester ultrasound showed that all 3 fetuses had bilateral renal structural abnormalities, including hyperechogenic kidney, multiple cysts and renal pelvis dilatation. The karyotyping of the 3 fetuses were normal. CMA examination showed that each case had 1.4-1.6 Mb deletion in 17q12 region. Two cases were de novo deletion and 1 case was inherited from the mother who had mild symptoms. The 3 women decided to terminate pregnancies after genetic counseling. Conclusion: 17q12 microdeletion syndrome is a recurrent chromosome microdeletion syndrome, and the unique phenotype in prenatal setting is the abnormal structure of bilateral kidneys. A few cases of 17q12 microdeletion syndrome even inherited normally phenotypical parents, and prenatal genetic counseling of 17q12 microdeletion syndrome is relatively difficult.

  13. [Maternal and fetal outcomes with aortic dissection in pregnant patients with Marfan syndrome].

    Science.gov (United States)

    Yang, Puyu; Zhang, Jun; Li, Yanna; Wang, Hui; Zheng, Jun

    2015-05-01

    To evaluate the clinical characteristics of aortic dissection in pregnant patients with Marfan syndrome and the maternal and fetal outcomes in cardiovascular surgery. Seven pregnant women with Marfan syndrome with aortic dissection were identified, who were treated in Beijing Anzhen Hospital Affiliated to Capital Medical University between January 2012 and September 2014. Patient charts were reviewed for cardiovascular surgery, occurrence of complications, clinical features and the maternal and fetal outcomes. (1) Among 7 patients, 4 cases were diagnosed as type A aortic dissection and 3 were cases diagnosed as type B aortic dissection. The diagnosis mainly depends on CT angiography. New York Heart Association (NYHA) classify into 5 of level II, 1 of level III, 1 of leveI IV. Except for 1 patient with cardiac tamponade lead to heart failure, the remaining 6 cases had no complications. (2) Three patients underwent heart surgery with cardiopulmonary bypass in second trimester and two patients underwent heart surgery in third trimester. Two patients terminated pregnancy before heart surgery (one of whom underwent artificial abortion, one of whom underwent cesarean section in second trimester). (3) The methods of cardiovascular surgeries were as follow: 3 of Bentall+Sun', 1 of Bentall+Sun'+ right coronary artery bypass grafting, 1 of Bentall, 1 of the whole chest aorta replacement surgery, and 1 of femoral artery catheter chest aorta with membrane mesh stent implantation. The diameter of aortic roots measured during operation were 5 cm in 2 cases, 7 cm in 2 cases and 10 cm in 2 cases respectively. Among the 7 cases, 3 were conducted cesarean sections during cardiovascular surgery, 1 was terminated pregnancy due to intrauterine fetal death after cardiovascular surgery, and 1 was conducted cesarean section due to severe early-onset preeclampsia at 30 weeks of pregnancy after cardiovascular surgery. (4) Among the 7 cases, 3 were conducted cesarean sections during

  14. In an Ovine Model of Polycystic Ovary Syndrome (PCOS) Prenatal Androgens Suppress Female Fetal Renal Gluconeogenesis

    Science.gov (United States)

    Connolly, Fiona; Rae, Michael T.; Späth, Katharina; Boswell, Lyndsey; McNeilly, Alan S.; Duncan, W. Colin

    2015-01-01

    Increased maternal androgen exposure during pregnancy programmes a polycystic ovary syndrome (PCOS)-like condition, with metabolic dysfunction, in adult female offspring. Other in utero exposures associated with the development of insulin resistance, such as intrauterine growth restriction and exposure to prenatal glucocorticoids, are associated with altered fetal gluconeogenesis. We therefore aimed to assess the effect of maternal androgenisation on the expression of PEPCK and G6PC in the ovine fetus. Pregnant Scottish Greyface sheep were treated with twice weekly testosterone propionate (TP; 100mg) or vehicle control from day 62 to day102 of gestation. At day 90 and day 112 fetal plasma and liver and kidney tissue was collected for analysis. PEPCK and G6PC expression were analysed by quantitative RT-PCR, immunohistochemistry and western blotting. PEPCK and G6PC were localised to fetal hepatocytes but maternal androgens had no effect on female or male fetuses. PEPCK and G6PC were also localised to the renal tubules and renal PEPCK (P<0.01) and G6PC (P = 0.057) were lower in females after prenatal androgenisation with no change in male fetuses. These tissue and sex specific observations could not be explained by alterations in fetal insulin or cortisol. The sexual dimorphism may be related to the increase in circulating estrogen (P<0.01) and testosterone (P<0.001) in females but not males. The tissue specific effects may be related to the increased expression of ESR1 (P<0.01) and AR (P<0.05) in the kidney when compared to the fetal liver. After discontinuation of maternal androgenisation female fetal kidney PEPCK expression normalised. These data further highlight the fetal and sexual dimorphic effects of maternal androgenisation, an antecedent to adult disease and the plasticity of fetal development. PMID:26148093

  15. Placental Inflammation and Fetal Injury in a Rare Zika Case Associated With Guillain-Barré Syndrome and Abortion

    Directory of Open Access Journals (Sweden)

    Kíssila Rabelo

    2018-05-01

    Full Text Available Zika virus (ZIKV is an emerging virus involved in recent outbreaks in Brazil. The association between the virus and Guillain-Barré syndrome (GBS or congenital disorders has raised a worldwide concern. In this work, we investigated a rare Zika case, which was associated with GBS and spontaneous retained abortion. Using specific anti-ZIKV staining, the virus was identified in placenta (mainly in Hofbauer cells and in several fetal tissues, such as brain, lungs, kidneys, skin and liver. Histological analyses of the placenta and fetal organs revealed different types of tissue abnormalities, which included inflammation, hemorrhage, edema and necrosis in placenta, as well as tissue disorganization in the fetus. Increased cellularity (Hofbauer cells and TCD8+ lymphocytes, expression of local pro-inflammatory cytokines such as IFN-γ and TNF-α, and other markers, such as RANTES/CCL5 and VEGFR2, supported placental inflammation and dysfunction. The commitment of the maternal-fetal link in association with fetal damage gave rise to a discussion regarding the influence of the maternal immunity toward the fetal development. Findings presented in this work may help understanding the ZIKV immunopathogenesis under the rare contexts of spontaneous abortions in association with GBS.

  16. The risk of fetal loss associated with invasive testing following combined first trimester risk screening for Down syndrome - a national cohort of 147 987 singleton pregnancies

    DEFF Research Database (Denmark)

    Wulff, Camilla Bernt; Gerds, Thomas Alexander; Rode, Line

    2016-01-01

    OBJECTIVE: To assess prospectively the risk of fetal loss associated with chorionic villus sampling (CVS) and amniocentesis (AC) following combined first-trimester screening (cFTS) for Down syndrome. METHODS: This was a nationwide population-based study (Danish Fetal Medicine Database, 2008...

  17. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984.

    Science.gov (United States)

    Neri, Giovanni; Martini-Neri, Maria Enrica; Katz, Ben E; Opitz, John M

    2013-11-01

    The ensuing paper by Professor Giovanni Neri and colleagues was originally published in 1984, American Journal of Medical Genetics 19:195–207. The original article described a new family with a condition that the authors designated as the Perlman syndrome. This disorder, while uncommon, is an important multiple congenital anomaly and dysplasia syndrome; the causative gene was recently identified. This paper is a seminal work and is graciously republished by Wiley-Blackwell in the Special Festschrift issue honoring Professor Neri. We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al. [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed. © 2013 Wiley Periodicals, Inc.

  18. Fetal Alcohol Exposure

    Science.gov (United States)

    ... categories: 4 » Fetal Alcohol Syndrome (FAS) » Partial FAS (pFAS) » Alcohol-Related Neurodevelopmental Disorder (ARND) » Alcohol-Related Birth ... either prenatally, after birth, or both Partial FAS (pFAS) Partial FAS (pFAS) involves prenatal alcohol exposure, and ...

  19. Poly(ethylene glycol)s as grinding additives in the mechanochemical preparation of highly functionalized 3,5-disubstituted hydantoins.

    Science.gov (United States)

    Mascitti, Andrea; Lupacchini, Massimiliano; Guerra, Ruben; Taydakov, Ilya; Tonucci, Lucia; d'Alessandro, Nicola; Lamaty, Frederic; Martinez, Jean; Colacino, Evelina

    2017-01-01

    The mechanochemical preparation of highly functionalized 3,5-disubstituted hydantoins was investigated in the presence of various poly(ethylene) glycols (PEGs), as safe grinding assisting agents (liquid-assisted grinding, LAG). A comparative study under dry-grinding conditions was also performed. The results showed that the cyclization reaction was influenced by the amount of the PEG grinding agents. In general, cleaner reaction profiles were observed in the presence of PEGs, compared to dry-grinding procedures.

  20. Twin-twin transfusion syndrome: cerebral ischemia is not the only fetal MR imaging finding

    Energy Technology Data Exchange (ETDEWEB)

    Kline-Fath, Beth M. [University of Cincinnati Medical Center, Department of Radiology, Cincinnati Children' s Hospital Medical Center, Cincinnati, OH (United States); Cincinnati Children' s Hospital, Department of Radiology, Cincinnati, OH (United States); Calvo-Garcia, Maria A.; O' Hara, Sara M.; Racadio, Judy M. [University of Cincinnati Medical Center, Department of Radiology, Cincinnati Children' s Hospital Medical Center, Cincinnati, OH (United States); Crombleholme, Timothy M. [University of Cincinnati Medical Center, Department of Surgery, Cincinnati Children' s Hospital Medical Center, Cincinnati, OH (United States)

    2007-01-15

    Twin-twin transfusion syndrome (TTTS) is a complication of monochorionic/diamniotic twin pregnancies. An imbalance of blood flow occurs through placental anastomoses, causing potentially significant morbidity and mortality in both twins. Although the sonographic findings of TTTS are well documented, we believe that MR imaging is a valuable adjunct. We describe the fetal MR imaging findings associated with TTTS. From 2003 to 2005, 37 consecutive MR imaging studies were performed on multiple-gestation pregnancies. Of the 37, 25 were consistent with TTTS, correlated and confirmed by sonographic criteria. MR fetal abnormalities were documented. Cerebral ischemia, which could not be demonstrated by sonography, was delineated well by MR imaging. New findings noted on fetal MR imaging were enlargement of cerebral venous sinuses in both twins, dilatation of the renal collecting system in the recipient, lung lesions in the recipient and cerebral malformations in the donor. MR imaging is an important adjunct in TTTS imaging. Its benefit over sonography is its clear definition of cerebral pathology, which is important for intervention and counseling. The new findings, particularly in the urinary tract and cerebral venous sinuses, also help support the diagnosis of TTTS and might reveal additional consequences of the altered hemodynamics that occur in TTTS. (orig.)

  1. Twin-twin transfusion syndrome: cerebral ischemia is not the only fetal MR imaging finding

    International Nuclear Information System (INIS)

    Kline-Fath, Beth M.; Calvo-Garcia, Maria A.; O'Hara, Sara M.; Racadio, Judy M.; Crombleholme, Timothy M.

    2007-01-01

    Twin-twin transfusion syndrome (TTTS) is a complication of monochorionic/diamniotic twin pregnancies. An imbalance of blood flow occurs through placental anastomoses, causing potentially significant morbidity and mortality in both twins. Although the sonographic findings of TTTS are well documented, we believe that MR imaging is a valuable adjunct. We describe the fetal MR imaging findings associated with TTTS. From 2003 to 2005, 37 consecutive MR imaging studies were performed on multiple-gestation pregnancies. Of the 37, 25 were consistent with TTTS, correlated and confirmed by sonographic criteria. MR fetal abnormalities were documented. Cerebral ischemia, which could not be demonstrated by sonography, was delineated well by MR imaging. New findings noted on fetal MR imaging were enlargement of cerebral venous sinuses in both twins, dilatation of the renal collecting system in the recipient, lung lesions in the recipient and cerebral malformations in the donor. MR imaging is an important adjunct in TTTS imaging. Its benefit over sonography is its clear definition of cerebral pathology, which is important for intervention and counseling. The new findings, particularly in the urinary tract and cerebral venous sinuses, also help support the diagnosis of TTTS and might reveal additional consequences of the altered hemodynamics that occur in TTTS. (orig.)

  2. Abnormal fetal head shape: aetiology and management

    DEFF Research Database (Denmark)

    Petersen, Olav Bjørn; David, Anna; Thomasson, Louise

    2007-01-01

    (lemon-shaped), 18.4% with aneuploidy (mostly strawberry-shaped). 19.5% were dolicocephalic, most secondary to fetal position or oligohydramnios (see table). 13 had confirmed craniosynostosis, including thanatophoric dysplasia, Craniofrontonasal dysplasia, Aperts syndrome, Baller-Gerold syndrome, I...

  3. Pathologic Evaluation of Type 2 Porcine Reproductive and Respiratory Syndrome Virus Infection at the Maternal-Fetal Interface of Late Gestation Pregnant Gilts.

    Directory of Open Access Journals (Sweden)

    Predrag Novakovic

    Full Text Available The pathogenesis of fetal death caused by porcine reproductive and respiratory syndrome virus (PRRSV remains unclear. The objective of this study was to improve our understanding of the pathogenesis by assessing potential relationships between specific histopathological lesions and PRRSV RNA concentration in the fetuses and the maternal-fetal interface. Pregnant gilts were inoculated with PRRSV (n = 114 or sham inoculated (n = 19 at 85±1 days of gestation. Dams and their litters were humanely euthanized and necropsied 21 days later. PRRSV RNA concentration was measured by qRT-PCR in the maternal-fetal interface and fetal thymus (n = 1391. Presence of fetal lesions was positively related to PRRSV RNA concentration in the maternal-fetal interface and fetal thymus (P<0.05 for both, but not to the distribution or severity of vasculitis, or the severity of endometrial inflammation. The presence of fetal and umbilical lesions was associated with greater odds of meconium staining (P<0.05 for both. The distribution and severity of vasculitis in endometrium were not significantly related to PRRSV RNA concentration in maternal-fetal interface or fetal thymus. Endometrial inflammation severity was positively related to distribution and severity of vasculitis in endometrium (P<0.001 for both. Conclusions from this study suggest that type 2 PRRSV infection in pregnant gilts induces significant histopathological lesions at maternal-fetal interface, but they are not associated with presence of PRRSV in the maternal-fetal interface at 21 days post infection. Conversely, fetal pathological lesions are associated with presence of PRRSV in the maternal-fetal interface and fetal thymus, and meconium staining is significantly associated with the presence of both fetal and umbilical lesions observed 21 days post infection.

  4. Pathologic Evaluation of Type 2 Porcine Reproductive and Respiratory Syndrome Virus Infection at the Maternal-Fetal Interface of Late Gestation Pregnant Gilts

    Science.gov (United States)

    Novakovic, Predrag; Harding, John C. S.; Al-Dissi, Ahmad N.; Ladinig, Andrea; Detmer, Susan E.

    2016-01-01

    The pathogenesis of fetal death caused by porcine reproductive and respiratory syndrome virus (PRRSV) remains unclear. The objective of this study was to improve our understanding of the pathogenesis by assessing potential relationships between specific histopathological lesions and PRRSV RNA concentration in the fetuses and the maternal-fetal interface. Pregnant gilts were inoculated with PRRSV (n = 114) or sham inoculated (n = 19) at 85±1 days of gestation. Dams and their litters were humanely euthanized and necropsied 21 days later. PRRSV RNA concentration was measured by qRT-PCR in the maternal-fetal interface and fetal thymus (n = 1391). Presence of fetal lesions was positively related to PRRSV RNA concentration in the maternal-fetal interface and fetal thymus (P<0.05 for both), but not to the distribution or severity of vasculitis, or the severity of endometrial inflammation. The presence of fetal and umbilical lesions was associated with greater odds of meconium staining (P<0.05 for both). The distribution and severity of vasculitis in endometrium were not significantly related to PRRSV RNA concentration in maternal-fetal interface or fetal thymus. Endometrial inflammation severity was positively related to distribution and severity of vasculitis in endometrium (P<0.001 for both). Conclusions from this study suggest that type 2 PRRSV infection in pregnant gilts induces significant histopathological lesions at maternal-fetal interface, but they are not associated with presence of PRRSV in the maternal-fetal interface at 21 days post infection. Conversely, fetal pathological lesions are associated with presence of PRRSV in the maternal-fetal interface and fetal thymus, and meconium staining is significantly associated with the presence of both fetal and umbilical lesions observed 21 days post infection. PMID:26963101

  5. Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors.

    Science.gov (United States)

    Yapijakis, Christos; Pachis, Nikos; Voumvourakis, Costas

    2017-01-01

    Neurofibromatosis-Noonan syndrome (NFNS) is a clinical entity possessing traits of autosomal dominant disorders neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). Germline mutations that disrupt the RAS/MAPK pathway are involved in the pathogenesis of both NS and NF1. In light of a studied Greek family, a new theory for etiological pathogenesis of NFNS is suggested. The NFNS phenotype may be the final result of a combination of a genetic factor (a mutation in the NF1 gene) and an environmental factor with the epigenetic effects of muscle hypotonia (such as hydantoin in the reported Greek family), causing hypoplasia of the face and micrognathia.

  6. Elevated second-trimester maternal serum β-human chorionic gonadotropin and amniotic fluid alpha-fetoprotein as indicators of adverse obstetric outcomes in fetal Turner syndrome.

    Science.gov (United States)

    Alvarez-Nava, Francisco; Soto, Marisol; Lanes, Roberto; Pons, Hector; Morales-Machin, Alisandra; Bracho, Ana

    2015-12-01

    The objective of this study was to determine the ability of biochemical analytes to identify adverse outcomes in pregnancies with Turner syndrome. Maternal serum and amniotic fluid (AF) marker concentrations were measured in 73 singleton pregnancies with Turner syndrome (10-22 weeks of gestation). Fetal Turner syndrome was definitively established by cytogenetic analysis. Two subgroups, fetuses with hydrops fetalis versus fetuses with cystic hygroma, were compared. Receiver operating characteristic curves and relative risk were established for a cut-off multiples of the median ≥3.5 for β-subunit of human chorionic gonadotropin (hCG) or AF alpha-fetoprotein (AFP). Forty-nine (67%) of 73 pregnant women had an abnormal maternal serum. While levels of pregnancy-associated plasma protein-A and free β-subunit (fβ)-hCG were not different to those of the control group, AFP, unconjugated estriol and β-hCG concentrations were significantly different in the study group (P Turner syndrome pregnancies with the highest risk of fetal death. © 2015 Japan Society of Obstetrics and Gynecology.

  7. Review: fetal programming of polycystic ovary syndrome by androgen excess: evidence from experimental, clinical, and genetic association studies.

    Science.gov (United States)

    Xita, Nectaria; Tsatsoulis, Agathocles

    2006-05-01

    Polycystic ovary syndrome (PCOS) is a common endocrine disorder of premenopausal women, characterized by hyperandrogenism, polycystic ovaries, and chronic anovulation along with insulin resistance and abdominal obesity as frequent metabolic traits. Although PCOS manifests clinically during adolescence, emerging data suggest that the natural history of PCOS may originate in intrauterine life. Evidence from experimental, clinical, and genetic research supporting the hypothesis for the fetal origins of PCOS has been analyzed. Female primates, exposed in utero to androgen excess, exhibit the phenotypic features of PCOS during adult life. Clinical observations also support a potential fetal origin of PCOS. Women with fetal androgen excess disorders, including congenital 21-hydroxylase deficiency and congenital adrenal virilizing tumors, develop features characteristic of PCOS during adulthood despite the normalization of androgen excess after birth. The potential mechanisms of fetal androgen excess leading to a PCOS phenotype in humans are not clearly understood. However, maternal and/or fetal hyperandrogenism can provide a plausible mechanism for fetal programing of PCOS, and this, in part, may be genetically determined. Thus, genetic association studies have indicated that common polymorphic variants of genes determining androgen activity or genes that influence the availability of androgens to target tissues are associated with PCOS and increased androgen levels. These genomic variants may provide the genetic link to prenatal androgenization in human PCOS. Prenatal androgenization of the female fetus induced by genetic and environmental factors, or the interaction of both, may program differentiating target tissues toward the development of PCOS phenotype in adult life.

  8. Biglycan and decorin differentially regulate signaling in the fetal membranes

    Science.gov (United States)

    Wu, Zhiping; Horgan, Casie E.; Carr, Olivia; Owens, Rick T.; Iozzo, Renato V.; Lechner, Beatrice E.

    2014-01-01

    Preterm birth is the leading cause of newborn mortality in the United States and about one third of cases are caused by preterm premature rupture of fetal membranes, a complication that is frequently observed in patients with Ehlers-Danlos Syndrome. Notably, a subtype of Ehlers-Danlos Syndrome is caused by expression of abnormal biglycan and decorin proteoglycans. As compound deficiency of these two small leucine-rich proteoglycans is a model of preterm birth, we investigated the fetal membranes of Bgn−/−;Dcn−/− double-null and single-null mice. Our results showed that biglycan signaling supported fetal membrane remodeling during early gestation in the absence of concomitant changes in TGFβ levels. In late gestation, biglycan signaling acted in a TGFβ–dependent manner to aid in membrane stabilization. In contrast, decorin signaling supported fetal membrane remodeling at early stages of gestation in a TGFβ–dependent manner, and fetal membrane stabilization at later stages of gestation without changes in TGFβ levels. Furthermore, exogenous soluble decorin was capable of rescuing the TGFβ signaling pathway in fetal membrane mesenchymal cells. Collectively, these findings provide novel targets for manipulation of fetal membrane extracellular matrix stability and could represent novel targets for research on preventive strategies for preterm premature rupture of fetal membranes. PMID:24373743

  9. Characteristics of fetal anticonvulsant syndrome associated autistic disorder.

    Science.gov (United States)

    Rasalam, A D; Hailey, H; Williams, J H G; Moore, S J; Turnpenny, P D; Lloyd, D J; Dean, J C S

    2005-08-01

    The aim of this study was to evaluate the clinical features and frequency of autistic disorder or Asperger syndrome (AS; according to Diagnostic and Statistical Manual of Mental Disorders, 4th edition [DSM-IV] criteria) in children exposed to anticonvulsant medication in utero. During a 20-year study period, 626 children were born in Aberdeen to mothers taking antiepileptic drugs (AEDs). The study examined long-term effects of prenatal exposure to AEDs in 260 children (122 males, 138 females). Of these, 26 (16 males) were reported by parents to have social or behavioural difficulties. Eleven children (6 males, 5 females) fulfilled the DSM-IV criteria for autistic disorder and one (female) fulfilled the DSM-IV criteria for AS. These children comprised 4.6% of the exposed children studied, and 1.9% of all exposed children born during the study period. Mean age of these children at diagnosis was 5 years 4 months (SD 2y 11mo) and 9 years 10 months (SD 3y 10mo) at the time of this study. Other children from the group of 26 had difficulties in areas of speech and language development and social communication but did not meet the criteria for an autism spectrum disorder (ASD). Sodium valproate was the drug most commonly associated with autistic disorder, five of 56 (8.9%) of the study children exposed to sodium valproate alone had either autistic disorder or AS. It was concluded that prenatal exposure to anticonvulsant medication is a risk factor for the development of an ASD. Fetal anticonvulsant syndrome associated autistic disorder is characterized by an even sex ratio, absence of regression or skill loss, and language delay in the absence of global delay.

  10. ALPHA-FETOPROTEIN IN FETAL SERUM, AMNIOTIC-FLUID, AND MATERNAL SERUM

    NARCIS (Netherlands)

    VANLITH, JMM; BEEKHUIS, [No Value; VANLOON, AJ; MANTINGH, A; DEWOLF, BTHM; BREED, ASPM

    In order to gain more insight into the association between alpha-fetoprotein (AFP) and fetal chromosomal disorders, especially Down's syndrome, we measured AFP in fetal serum, amniotic fluid, and maternal serum at cordocentesis. We compared the concentration and gradient of AFP in these three

  11. Simultaneous use of intrapartum fetal pulse oximetry and amnioinfusion in meconium stained amniotic fluid.

    Science.gov (United States)

    Halvax, László; Szabó, István; Vizer, Miklós; Csermely, Tamás; Ertl, Tibor

    2002-09-10

    Fetal pulse oximetry is a minimally invasive, simple technique which continuously helps to reflect in utero well-being. The presence of meconium in the amniotic fluid may be a clinical sign of fetal hypoxaemia. Amnioinfusion has a beneficial effect on the incidence of meconium aspiration syndrome (MAS), and the presence of meconium below the level of the vocal cords. We studied the impact of amnioinfusion combined with fetal pulse oximetry on the incidence of meconium aspiration syndrome and operative delivery. The retrospective analysis revealed that the presence of meconium below the level of vocal cords was significantly reduced. The frequency of cesarean section is decreased, however, it did not reach statistical significance. Fetal pulse oximetry may be used in combination with amnioinfusion and cardiotocography (CTG) to reduce the risk of meconium aspiration syndrome and the number of instrumental deliveries and improve perinatal outcome. Copyright 2002 Elsevier Science Ireland Ltd.

  12. Structural context effects in the oxidation of 8-oxo-7,8-dihydro-2'-deoxyguanosine to hydantoin products: electrostatics, base stacking, and base pairing.

    Science.gov (United States)

    Fleming, Aaron M; Muller, James G; Dlouhy, Adrienne C; Burrows, Cynthia J

    2012-09-12

    8-Oxo-7,8-dihydroguanine (OG) is the most common base damage found in cells, where it resides in many structural contexts, including the nucleotide pool, single-stranded DNA at transcription forks and replication bubbles, and duplex DNA base-paired with either adenine (A) or cytosine (C). OG is prone to further oxidation to the highly mutagenic hydantoin products spiroiminodihydantoin (Sp) and 5-guanidinohydantoin (Gh) in a sharply pH-dependent fashion within nucleosides. In the present work, studies were conducted to determine how the structural context affects OG oxidation to the hydantoins. These studies revealed a trend in which the Sp yield was greatest in unencumbered contexts, such as nucleosides, while the Gh yield increased in oligodeoxynucleotide (ODN) contexts or at reduced pH. Oxidation of oligomers containing hydrogen-bond modulators (2,6-diaminopurine, N(4)-ethylcytidine) or alteration of the reaction conditions (pH, temperature, and salt) identify base stacking, electrostatics, and base pairing as the drivers of the key intermediate 5-hydroxy-8-oxo-7,8-dihydroguanine (5-HO-OG) partitioning along the two hydantoin pathways, allowing us to propose a mechanism for the observed base-pairing effects. Moreover, these structural effects cause an increase in the effective pK(a) of 5-HO-OG, following an increasing trend from 5.7 in nucleosides to 7.7 in a duplex bearing an OG·C base pair, which supports the context-dependent product yields. The high yield of Gh in ODNs underscores the importance of further study on this lesion. The structural context of OG also determined its relative reactivity toward oxidation, for which the OG·A base pair is ~2.5-fold more reactive than an OG·C base pair, and with the weak one-electron oxidant ferricyanide, the OG nucleoside reactivity is >6000-fold greater than that of OG·C in a duplex, leading to the conclusion that OG in the nucleoside pool should act as a protective agent for OG in the genome.

  13. Native American adolescents' views of fetal alcohol syndrome prevention in schools.

    Science.gov (United States)

    Ma, G X; Toubbeh, J; Cline, J; Chisholm, A

    1998-04-01

    Alcohol is the most commonly abused substance among adolescents in the United States. Adolescent females are recognized as one group at risk for giving birth to babies with fetal alcohol syndrome (FAS). Sixth through eighth grade Native Americans were surveyed about their attitudes toward and knowledge of FAS risk factors and prevention strategies. Data revealed that 52% of students drank alcohol prior to the survey. Though sexually active, students lacked knowledge about the relationship between alcohol and FAS. The study revealed 1) limited prevention programs in middle schools and 2) the most influential factor in determining attitudes and decisions about alcohol use was the immediate family. Students felt FAS prevention is an important topic in school health education, noting the important role peers play in teaching and role modeling. Various strategies incorporating music and communication technology such as videotape and computer-assisted interactive tools into prevention materials are discussed.

  14. Prevalence and characteristics of fetal alcohol syndrome and partial fetal alcohol syndrome in a Rocky Mountain Region City.

    Science.gov (United States)

    May, Philip A; Keaster, Carol; Bozeman, Rosemary; Goodover, Joelene; Blankenship, Jason; Kalberg, Wendy O; Buckley, David; Brooks, Marita; Hasken, Julie; Gossage, J Phillip; Robinson, Luther K; Manning, Melanie; Hoyme, H Eugene

    2015-10-01

    The prevalence and characteristics of fetal alcohol syndrome (FAS) and partial FAS (PFAS) in the United States (US) are not well known. This active case ascertainment study in a Rocky Mountain Region City assessed the prevalence and traits of children with FAS and PFAS and linked them to maternal risk factors. Diagnoses made by expert clinical dysmorphologists in multidisciplinary case conferences utilized all components of the study: dysmorphology and physical growth, neurobehavior, and maternal risk interviews. Direct parental (active) consent was obtained for 1278 children. Averages for key physical diagnostic traits and several other minor anomalies were significantly different among FAS, PFAS, and randomly-selected, normal controls. Cognitive tests and behavioral checklists discriminated the diagnostic groups from controls on 12 of 14 instruments. Mothers of children with FAS and PFAS were significantly lower in educational attainment, shorter, later in pregnancy recognition, and suffered more depression, and used marijuana and methamphetamine during their pregnancy. Most pre-pregnancy and pregnancy drinking measures were worse for mothers of FAS and PFAS. Excluding a significant difference in simply admitting drinking during the index pregnancy (FAS and PFAS=75% vs. 39.4% for controls), most quantitative intergroup differences merely approached significance. This community's prevalence of FAS is 2.9-7.5 per 1000, PFAS is 7.9-17.7 per 1000, and combined prevalence is 10.9-25.2 per 1000 or 1.1-2.5%. Comprehensive, active case ascertainment methods produced rates of FAS and PFAS higher than predicted by long-standing, popular estimates. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  15. MRI of fetal acquired brain lesions

    International Nuclear Information System (INIS)

    Prayer, Daniela; Brugger, Peter C.; Kasprian, Gregor; Witzani, Linde; Helmer, Hanns; Dietrich, Wolfgang; Eppel, Wolfgang; Langer, Martin

    2006-01-01

    Acquired fetal brain damage is suspected in cases of destruction of previously normally formed tissue, the primary cause of which is hypoxia. Fetal brain damage may occur as a consequence of acute or chronic maternal diseases, with acute diseases causing impairment of oxygen delivery to the fetal brain, and chronic diseases interfering with normal, placental development. Infections, metabolic diseases, feto-fetal transfusion syndrome, toxic agents, mechanical traumatic events, iatrogenic accidents, and space-occupying lesions may also qualify as pathologic conditions that initiate intrauterine brain damage. MR manifestations of acute fetal brain injury (such as hemorrhage or acute ischemic lesions) can easily be recognized, as they are hardly different from postnatal lesions. The availability of diffusion-weighted sequences enhances the sensitivity in recognizing acute ischemic lesions. Recent hemorrhages are usually readily depicted on T2 (*) sequences, where they display hypointense signals. Chronic fetal brain injury may be characterized by nonspecific changes that must be attributable to the presence of an acquired cerebral pathology. The workup in suspected acquired fetal brain injury also includes the assessment of extra-CNS organs that may be affected by an underlying pathology. Finally, the placenta, as the organ that mediates oxygen delivery from the maternal circulation to the fetus, must be examined on MR images

  16. MRI of fetal acquired brain lesions

    Energy Technology Data Exchange (ETDEWEB)

    Prayer, Daniela [Department of Radiodiagnostics, Medical University of Vienna (Austria)]. E-mail: daniela.prayer@meduniwien.ac.at; Brugger, Peter C. [Center of Anatomy and Cell Biology, Medical University of Vienna (Austria); Kasprian, Gregor [Department of Radiodiagnostics, Medical University of Vienna (Austria); Witzani, Linde [Department of Radiodiagnostics, Medical University of Vienna (Austria); Helmer, Hanns [Department of Obstetrics and Gynecology, Medical University of Vienna (Austria); Dietrich, Wolfgang [Department of Neurosurgery, Medical University of Vienna (Austria); Eppel, Wolfgang [Department of Obstetrics and Gynecology, Medical University of Vienna (Austria); Langer, Martin [Department of Obstetrics and Gynecology, Medical University of Vienna (Austria)

    2006-02-15

    Acquired fetal brain damage is suspected in cases of destruction of previously normally formed tissue, the primary cause of which is hypoxia. Fetal brain damage may occur as a consequence of acute or chronic maternal diseases, with acute diseases causing impairment of oxygen delivery to the fetal brain, and chronic diseases interfering with normal, placental development. Infections, metabolic diseases, feto-fetal transfusion syndrome, toxic agents, mechanical traumatic events, iatrogenic accidents, and space-occupying lesions may also qualify as pathologic conditions that initiate intrauterine brain damage. MR manifestations of acute fetal brain injury (such as hemorrhage or acute ischemic lesions) can easily be recognized, as they are hardly different from postnatal lesions. The availability of diffusion-weighted sequences enhances the sensitivity in recognizing acute ischemic lesions. Recent hemorrhages are usually readily depicted on T2 (*) sequences, where they display hypointense signals. Chronic fetal brain injury may be characterized by nonspecific changes that must be attributable to the presence of an acquired cerebral pathology. The workup in suspected acquired fetal brain injury also includes the assessment of extra-CNS organs that may be affected by an underlying pathology. Finally, the placenta, as the organ that mediates oxygen delivery from the maternal circulation to the fetus, must be examined on MR images.

  17. Structural Context Effects in the Oxidation of 8-Oxo-7,8-dihydro-2’-deoxyguanosine to Hydantoin Products: Electrostatics, Base Stacking, and Base Pairing

    Science.gov (United States)

    Fleming, Aaron M.; Muller, James G.; Dlouhy, Adrienne C.; Burrows, Cynthia J.

    2012-01-01

    8-Oxo-7,8-dihydroguanine (OG) is the most common base damage found in the cell where it resides in many structural contexts including the nucleotide pool, single-stranded DNA at transcription forks and replication bubbles, and in duplex DNA base paired with either A or C. OG is prone to further oxidation to the highly mutagenic hydantoin products, spiroiminodihydantoin (Sp) and 5-guanidinohydantoin (Gh) in a sharply pH-dependent fashion within nucleosides. In the present work, studies were conducted to determine how the structural context affects OG oxidation to the hydantoins. These studies revealed a trend in which the Sp yield was greatest in unencumbered contexts, such as nucleosides, while the Gh yield increased in oligodeoxynucleotide (ODN) contexts or at reduced pH. Oxidation of oligomers containing hydrogen bond modulators (2,6-diaminopurine, N4-ethylcytidine) or alteration of the reaction conditions (pH, temperature, and salt) identify base stacking, electrostatics and base pairing as the drivers of the key intermediate 5-hydroxy-8-oxo-7,8-dihydroguanine (5-HO-OG) partitioning along the two hydantoin pathways, allowing us to propose a mechanism for the observed base pairing effects. Moreover, these structural effects cause an increase in the effective pKa of 5-HO-OG following an increasing trend from 5.7 in nucleosides to 7.7 in a duplex bearing an OG•C base pair, which supports the context-dependent product yields. The high yield of Gh in ODNs underscores the importance of further study on this lesion. The structural context of OG also determined its relative reactivity toward oxidation for which the OG•A base pair is ~2.5-fold more reactive than an OG•C base pair, and with the weak one-electron oxidant ferricyanide, the OG nucleoside reactivity is >6000-fold greater than that of OG•C in a duplex, leading to the conclusion that OG in the nucleoside pool should act as a protective agent for OG in the genome. PMID:22880947

  18. A case of fetal valproate syndrome with new features expanding the phenotype

    International Nuclear Information System (INIS)

    Seidahmed, Mohammed Z.; Miqdad, Abeer M.; AlDohami, Hessa S.; Shareefi, Osama M.

    2009-01-01

    Fetal valproate syndrome (FVS) is a well-recognized constellation of dysmorphic features, and neurodevelopmental retardation that results from prenatal exposure to the anticonvulsant valproic acid. In this report, we describe a case with typical features of FVS. A 23-year-old lady with post-traumatic epilepsy controlled by sodium valproate (Depakene) 500 mg twice daily throughout pregnancy as monotherapy, gave birth to a female baby with facial features characteristic of FVS, and severe radial ray reduction. She also had wide-spaced nipples and short neck, features not described before. Sodium valproate, a widely used anticonvulsant and mood regulator, is a well-recognized teratogen that can result in severe limb deformities, craniosynostosis, neural tube defects and neurodevelopmental retardation. Therefore, we recommend that valproic acid must be avoided during pregnancy, as new generation of anticonvulsant drugs have emerged into the market. (author)

  19. De novo design, synthesis, and in vitro activity of LFA-1 antagonists based on a bicyclic[5.5]hydantoin scaffold.

    Science.gov (United States)

    Potin, Dominique; Launay, Michele; Nicolai, Eric; Fabreguette, Maud; Malabre, Patrice; Caussade, François; Besse, Dominique; Skala, Stacey; Stetsko, Dawn K; Todderud, Gordon; Beno, Brett R; Cheney, Daniel L; Chang, Chiehying J; Sheriff, Steven; Hollenbaugh, Diane L; Barrish, Joel C; Iwanowicz, Edwin J; Suchard, Suzanne J; Dhar, T G Murali

    2005-02-15

    LFA-1 (leukocyte function-associated antigen-1), is a member of the beta(2)-integrin family and is expressed on all leukocytes. The LFA-1/ICAM interaction promotes tight adhesion between activated leukocytes and the endothelium, as well as between T cells and antigen-presenting cells. Evidence from both animal models and clinical trials provides support for LFA-1 as a target in several different inflammatory diseases. This paper describes the de novo design, synthesis and in vitro activity of LFA-1 antagonists based on a bicyclic[5.5]hydantoin scaffold.

  20. Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery.

    Science.gov (United States)

    Piro, Ettore; Piccione, Maria; Marrone, Gianluca; Giuffrè, Mario; Corsello, Giovanni

    2013-05-14

    Prenatal ultrasonographic detection of unilateral cerebral ventriculomegaly arises suspicion of pathological condition related to cerebrospinal fluid flow obstruction or cerebral parenchimal pathology. Dyke-Davidoff-Masson syndrome is a rare condition characterized by cerebral hemiatrophy, calvarial thickening, skull and facial asymmetry, contralateral hemiparesis, cognitive impairment and seizures. Congenital and acquired types are recognized and have been described, mainly in late childhood, adolescence and adult ages. We describe a female infant with prenatal diagnosis of unilateral left ventriculomegaly in which early brain MRI and contrast enhanced-MRI angiography, showed cerebral left hemiatrophy associated with reduced caliber of the left middle cerebral artery revealing the characteristic findings of the Dyke-Davidoff-Masson syndrome. Prenatal imaging, cerebral vascular anomaly responsible for the cerebral hemiatrophy and the early clinical evolution have never been described before in such a young child and complete the acquired clinical descriptions in older children. Differential diagnosis, genetic investigations, neurophysiologic assessments, short term clinical and developmental follow up are described. Dyke-Davidoff-Masson syndrome must be ruled out in differential diagnosis of fetal unilateral ventriculomegaly. Early clinical assessment, differential diagnosis and cerebral imaging including cerebral MRI angiography allow the clinicians to diagnose also in early infancy this rare condition.

  1. Syndromes, Disorders and Maternal Risk Factors Associated With Neural Tube Defects (VI

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2008-09-01

    Full Text Available Neural tube defects (NTDs may be associated with syndromes, disorders, and maternal and fetal risk factors. This article provides a comprehensive review of the syndromes, disorders, and maternal and fetal risk factors associated with NTDs, including maternal fumonisin consumption, periconceptional zinc deficiency, parental occupational exposure and residential proximity to pesticides, lower socioeconomic status, fetal alcohol syndrome, mutations in the VANGL1 gene, human athymic Nude/SCID fetus, and single nucleotide polymorphism in the NOS3 gene. NTDs associated with these syndromes, disorders, and maternal and fetal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different from those of nonsyndromic multifactorial NTDs. Perinatal diagnosis of NTDs should alert doctors to the syndromes, disorders, and maternal and fetal risk factors associated with NTDs, and prompt thorough etiologic investigation and genetic counseling.

  2. Prevalence of Fetal Alcohol Syndrome and Maternal Characteristics in a Sample of Schoolchildren from a Rural Province of Croatia

    Directory of Open Access Journals (Sweden)

    Ingeborg Barišić

    2013-04-01

    Full Text Available Fetal alcohol syndrome (FAS is a congenital syndrome caused by maternal alcohol consumption during pregnancy and is entirely preventable by abstinence from alcohol drinking during this time. Little is known about the prevalence of FAS and maternal alcohol consumption during pregnancy in Western countries. We present the results of FAS/partial fetal alcohol syndrome (PFAS prevalence study and maternal characteristics in a sample of schoolchildren from a rural province of Croatia. This study involved seven elementary schools with 1,110 enrolled children attending 1st to 4th grade and their mothers. We used an active case ascertainment method with passive parental consent and Clarified IOM criteria. The investigation protocol involved maternal data collection and clinical examination of children. Out of 1,110 mothers, 917 (82.6% answered the questionnaire. Alcohol exposure during pregnancy was admitted by 11.5%, regular drinking by 4.0% and binge drinking by 1.4% of questioned mothers. Clinical examination involved 824 (74.2% schoolchildren and disclosed 14 (1.7% with clinical signs of FAS and 41 (5.0% of PFAS. The observed FAS prevalence, based on 74.2% participation rate, was 16.9, PFAS 49.7 and combined prevalence was 66.7/1,000 examined schoolchildren. This is the first FAS prevalence study based on active ascertainment among schoolchildren and pregnancy alcohol drinking analysis performed in a rural community of Croatia and Europe. High prevalence of FAS/PFAS and pregnancy alcohol consumption observed in this study revealed that FAS is serious health problem in rural regions as well as a need to develop future studies and preventive measures for pregnancy alcohol drinking and FASD.

  3. Prevalence of Fetal Alcohol Syndrome and Maternal Characteristics in a Sample of Schoolchildren from a Rural Province of Croatia

    Science.gov (United States)

    Petković, Giorgie; Barišić, Ingeborg

    2013-01-01

    Fetal alcohol syndrome (FAS) is a congenital syndrome caused by maternal alcohol consumption during pregnancy and is entirely preventable by abstinence from alcohol drinking during this time. Little is known about the prevalence of FAS and maternal alcohol consumption during pregnancy in Western countries. We present the results of FAS/partial fetal alcohol syndrome (PFAS) prevalence study and maternal characteristics in a sample of schoolchildren from a rural province of Croatia. This study involved seven elementary schools with 1,110 enrolled children attending 1st to 4th grade and their mothers. We used an active case ascertainment method with passive parental consent and Clarified IOM criteria. The investigation protocol involved maternal data collection and clinical examination of children. Out of 1,110 mothers, 917 (82.6%) answered the questionnaire. Alcohol exposure during pregnancy was admitted by 11.5%, regular drinking by 4.0% and binge drinking by 1.4% of questioned mothers. Clinical examination involved 824 (74.2%) schoolchildren and disclosed 14 (1.7%) with clinical signs of FAS and 41 (5.0%) of PFAS. The observed FAS prevalence, based on 74.2% participation rate, was 16.9, PFAS 49.7 and combined prevalence was 66.7/1,000 examined schoolchildren. This is the first FAS prevalence study based on active ascertainment among schoolchildren and pregnancy alcohol drinking analysis performed in a rural community of Croatia and Europe. High prevalence of FAS/PFAS and pregnancy alcohol consumption observed in this study revealed that FAS is serious health problem in rural regions as well as a need to develop future studies and preventive measures for pregnancy alcohol drinking and FASD. PMID:23591786

  4. Fetal chromosome analysis

    DEFF Research Database (Denmark)

    Philip, J; Tabor, A; Bang, J

    1983-01-01

    The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...

  5. The usage and current approaches of cell free fetal DNA (cffDNA as a prenatal diagnostic method in fetal aneuploidy screening

    Directory of Open Access Journals (Sweden)

    Hülya Erbaba

    2015-12-01

    Full Text Available Prenatal diagnosis of invasive and noninvasive tests can be done in a way (NIPT, but because of the invasive methods have risks of infection and abortion, diagnosing non-invasive procedure increasing day by day. One of the widespread cell free fetal DNA in maternal blood test (cffDNA that is increasing in clinical use has been drawing attention. The incidence of aneuploidy chromosomal anomaly of the kind in which all live births; Trisomy 21 (Down Syndrome 1/800, trisomy 13 (Patau syndrome 1 /10,000, trisomy 18 (Edwards syndrome is a form of 1/6000. Because of the high mortality and morbidity, it is vital that congenital anomalies should be diagnosed in prenatal period. Aneuploidy testing for high-risk pregnant women after the 10th week of pregnancy in terms of the blood sample is taken and free fetal DNA in maternal plasma is based on the measurement of the relative amount. Knowledge of the current criteria for use by healthcare professionals in the field test will allow the exclusion of maternal and fetal risks. In this study, it is aimed to demonstrate current international approaches related to the positive and negative sides of non-invasive that is one of the prenatal diagnostic methods of cffDNA test. J Clin Exp Invest 2015; 6 (4: 414-417

  6. Screening for fetal growth restriction using fetal biometry combined with maternal biomarkers.

    Science.gov (United States)

    Gaccioli, Francesca; Aye, Irving L M H; Sovio, Ulla; Charnock-Jones, D Stephen; Smith, Gordon C S

    2018-02-01

    Fetal growth restriction is a major determinant of perinatal morbidity and mortality. Screening for fetal growth restriction is a key element of prenatal care but it is recognized to be problematic. Screening using clinical risk assessment and targeting ultrasound to high-risk women is the standard of care in the United States and United Kingdom, but the approach is known to have low sensitivity. Systematic reviews of randomized controlled trials do not demonstrate any benefit from universal ultrasound screening for fetal growth restriction in the third trimester, but the evidence base is not strong. Implementation of universal ultrasound screening in low-risk women in France failed to reduce the risk of complications among small-for-gestational-age infants but did appear to cause iatrogenic harm to false positives. One strategy to making progress is to improve screening by developing more sensitive and specific tests with the key goal of differentiating between healthy small fetuses and those that are small through fetal growth restriction. As abnormal placentation is thought to be the major cause of fetal growth restriction, one approach is to combine fetal biometry with an indicator of placental dysfunction. In the past, these indicators were generally ultrasonic measurements, such as Doppler flow velocimetry of the uteroplacental circulation. However, another promising approach is to combine ultrasonic suspicion of small-for-gestational-age infant with a blood test indicating placental dysfunction. Thus far, much of the research on maternal serum biomarkers for fetal growth restriction has involved the secondary analysis of tests performed for other indications, such as fetal aneuploidies. An exemplar of this is pregnancy-associated plasma protein A. This blood test is performed primarily to assess the risk of Down syndrome, but women with low first-trimester levels are now serially scanned in later pregnancy due to associations with placental causes of

  7. Diagnosis, treatment and long-term outcome in fetal hydrocephalus

    International Nuclear Information System (INIS)

    Yamasaki, Mami; Nonaka, Masahiro; Bamba, Yohei; Teramoto, Chika; Ban, Chiaki; Pooh, Ritsuko

    2011-01-01

    The objective of this study was to evaluate the method of prenatally estimating an appropriate clinical outcome in fetal hydrocephalus. Retrospective study, single institute (Osaka National Hospital). Hundred and seventeen cases with fetal hydrocephalus treated at Osaka National Hospital from 1992 to 2010 were analysed. Of the 117 cases analysed, 38% are diagnosed as isolated ventriculomegaly (IVM), 51% as other types of malformation (30 cases of myelomeningocele, 4 cases of holoprosencephaly, 4 of Dandy Walker syndrome, 10 of arachnoid cyst and 6 of encephalocele etc.) and 11% as secondary hydrocephalus. They are diagnosed between 17 and 40 weeks of gestation (average 27 weeks), 17% diagnosed between 17 and 21 weeks, 30% between 22 and 27 weeks and 53% after 28 weeks. With the exception of 9 aborted cases and 30 unknown cases too young to be evaluated or lost due to lack of follow-up, final outcome was analyzed in 78 cases. Of these 78 cases, 15% died in utero or after birth, 23% showed severe retardation, 17% moderate retardation, 26% mild retardation, and 19% showed good outcome. Long term consequences were mostly influenced by basic disease and accompanied anomalies. Hydrocephalus associated with arachnoid cyst, atresia of Monro, corpus callosum agenesis and hydrocephalus due to fetal intracranial hemorrhage are categorized in the good outcome group. On the other hand, holoprosencephaly, hydrocephalus associated with encephalocele, syndromic hydrocephalus and hydrocephalus due to fetal virus infection are categorized in the poor outcome group. In order to accurate diagnosis and proper counseling, establishment of diagnosis protocol and treatment policy for fetal hydrocephalus including not only fetal sonography, fetal MRI, toxoplasma, rubella, cytomegalovirus, herpes simplex (TORCH) screening test but also chromosomal and gene testing is required. (author)

  8. Fetal programming of the metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Aleksandra Marciniak

    2017-04-01

    Full Text Available Prenatal development is currently recognized as a critical period in the etiology of human diseases. This is particularly so when an unfavorable environment interacts with a genetic predisposition. The fetal programming concept suggests that maternal nutritional imbalance and metabolic disturbances may have a persistent and intergenerational effect on the health of offspring and on the risk of diseases such as obesity, diabetes, and cardiovascular diseases.

  9. Fetal Tobacco Smoke Exposure in the Third Trimester of Pregnancy Is Associated with Atopic Eczema/Dermatitis Syndrome in Infancy.

    Science.gov (United States)

    Shinohara, Miwa; Matsumoto, Kenji

    2017-09-01

    The manifestation of atopic dermatitis (AD) is initially nonatopic eczema in early infancy; the manifestations subsequently change in age-specific stages. Since allergen-specific T-helper 2 cells appear in the fetus primarily after the third trimester of pregnancy and rapidly mature during the first 6 months of life, different timings of tobacco smoke exposure may have different effects on AD. In this study, we investigated whether the timing of fetal or/and infantile tobacco smoke exposure affects the cumulative incidence of atopic eczema/dermatitis syndrome (AEDS) in infants in Japan. This cross-sectional study enrolled 1,177 parent-infant pairs, in which the infants were >6 months old. Parental allergic history, number of older siblings, physician-diagnosed AEDS and food allergy (FA), and the perinatal fetal and/or infantile tobacco smoke exposure timing after 28 weeks gestation and during the first 6 months of life were assessed using self-completed questionnaires. Fetal tobacco smoke exposure after 28 weeks gestation was significantly associated with higher cumulative incidence of AEDS in exposed infants than in unexposed infants: AEDS in all infants, 41.4% versus 34.0% (Chi-squared, P  = 0.020; adjusted odds ratio, 5.21; 95% confidence interval, 1.08-25.15); AEDS in those without parental allergic history, 38.0% versus 26.6% (Chi-squared, P  = 0.024). Postnatal infantile tobacco smoke exposure timing was not significantly associated with cumulative incidence of AEDS. No significant associations were observed between any tobacco smoke exposure timings and the cumulative incidence of FA. Fetal tobacco smoke exposure during the third trimester of pregnancy was positively associated with AEDS in infancy and might induce epigenetic changes in the fetal allergen-specific immune responses.

  10. Characterization of the fetal blood transcriptome and proteome in maternal anti-fetal rejection: evidence of a distinct and novel type of human fetal systemic inflammatory response.

    Science.gov (United States)

    Lee, Joonho; Romero, Roberto; Chaiworapongsa, Tinnakorn; Dong, Zhong; Tarca, Adi L; Xu, Yi; Chiang, Po Jen; Kusanovic, Juan Pedro; Hassan, Sonia S; Yeo, Lami; Yoon, Bo Hyun; Than, Nandor Gabor; Kim, Chong Jai

    2013-10-01

    The human fetus is able to mount a systemic inflammatory response when exposed to microorganisms. This stereotypic response has been termed the 'fetal inflammatory response syndrome' (FIRS), defined as an elevation of fetal plasma interleukin-6 (IL-6). FIRS is frequently observed in patients whose preterm deliveries are associated with intra-amniotic infection, acute inflammatory lesions of the placenta, and a high rate of neonatal morbidity. Recently, a novel form of fetal systemic inflammation, characterized by an elevation of fetal plasma CXCL10, has been identified in patients with placental lesions consistent with 'maternal anti-fetal rejection'. These lesions include chronic chorioamnionitis, plasma cell deciduitis, and villitis of unknown etiology. In addition, positivity for human leukocyte antigen (HLA) panel-reactive antibodies (PRA) in maternal sera can also be used to increase the index of suspicion for maternal anti-fetal rejection. The purpose of this study was to determine (i) the frequency of pathologic lesions consistent with maternal anti-fetal rejection in term and spontaneous preterm births; (ii) the fetal serum concentration of CXCL10 in patients with and without evidence of maternal anti-fetal rejection; and (iii) the fetal blood transcriptome and proteome in cases with a fetal inflammatory response associated with maternal anti-fetal rejection. Maternal and fetal sera were obtained from normal term (n = 150) and spontaneous preterm births (n = 150). A fetal inflammatory response associated with maternal anti-fetal rejection was diagnosed when the patients met two or more of the following criteria: (i) presence of chronic placental inflammation; (ii) ≥80% of maternal HLA class I PRA positivity; and (iii) fetal serum CXCL10 concentration >75th percentile. Maternal HLA PRA was analyzed by flow cytometry. The concentrations of fetal CXCL10 and IL-6 were determined by ELISA. Transcriptome analysis was undertaken after the extraction of total RNA

  11. The amniotic band syndrome: antenatal sonographic diagnosis and potential pitfalls.

    Science.gov (United States)

    Mahony, B S; Filly, R A; Callen, P W; Golbus, M S

    1985-05-01

    Amniotic band syndrome causes a variety of fetal malformations involving the limbs, craniofacial region, and trunk. Six prenatally diagnosed cases of amniotic band syndrome are discussed. The diagnosis was based on sonographic visualization of either amniotic sheets or bands associated with fetal deformation or deformities in nonembryologic distributions known to characterize the amniotic band syndrome. Seven additional cases are considered in which an aberrant sheet of tissue with a free edge was visualized within the amniotic cavity but no restriction of fetal motion or subsequent deformity was demonstrated.

  12. Type 2 porcine reproductive and respiratory syndrome virus infection increases apoptosis at the maternal-fetal interface in late gestation pregnant gilts.

    Directory of Open Access Journals (Sweden)

    Predrag Novakovic

    Full Text Available The pathogenesis of fetal death associated with porcine reproductive and respiratory syndrome (PRRS is hypothesized to be a consequence of PRRS virus-induced apoptosis at the maternal-fetal interface (MFI. The objectives of this study were to evaluate distribution and degree of apoptosis in the uterine and fetal placental tissues during the experimental type 2 PRRS virus (PRRSV infection and determine associations between apoptosis at the MFI, PRRSV RNA concentration and antigen staining intensity, PRRSV-induced microscopic lesions, and fetal preservation status. A total of 114 naïve, high-health pregnant gilts were inoculated with type 2 PRRSV on gestation day 85±1 with euthanasia 21 days later; 19 sham-inoculated gilts served as controls. Two hundred and fifty samples of uterine tissue with fetal placenta were selected based on negative, low PRRSV RNA, and high PRRSV RNA concentration (0, 2.7 log10 copies/mg, respectively. TUNEL assay was used to detect apoptosis in the endometrium and at the MFI. PRRSV RNA concentration and numbers of PRRSV immunopositive cells in uterine and placental tissue were positively associated with the severity of apoptosis in the endometrium and the MFI (P<0.001, P<0.05 and P<0.001, respectively. The number of TUNEL positive cells at the MFI was also positively associated with the severity (P<0.001 of vasculitis, but not total numbers of inflammatory cells in the endometrium. Increased numbers of TUNEL positive cells at the MFI were associated with PRRSV load in the fetal thymus, and greater odds of meconium staining of the fetus at 21 days post infection (P<0.001 for both. These findings suggest an important role of apoptosis in the pathogenesis of uterine epithelial and trophoblastic cell death at the MFI. Moreover, apoptosis at the MFI is significantly associated with fetal demise during in utero type 2 PRRSV infection.

  13. Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (III

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2008-06-01

    Full Text Available Fetuses with neural tube defects (NTDs may be associated with syndromes, disorders, and maternal and fetal risk factors. This article provides a comprehensive review of syndromes, disorders, and maternal and fetal risk factors associated with NTDs, such as omphalocele, OEIS (omphalocele-exstrophy-imperforate anus-spinal defects complex, pentalogy of Cantrell, amniotic band sequence, limb-body wall complex, Meckel syndrome, Joubert syndrome, skeletal dysplasia, diabetic embryopathy, and single nucleotide polymorphisms in genes of glucose metabolism. NTDs associated with syndromes, disorders, and maternal and fetal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different from those of nonsyndromic multi facto rial NTDs. Perinatal identification of NTDs should alert the clinician to the syndromes, disorders, and maternal and fetal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling. [Taiwan J Obstet Cynecol 2008;47(2:131-140

  14. Cell-free placental DNA beyond Down syndrome: Lessons learned from fetal RHD genotyping

    NARCIS (Netherlands)

    Thurik, F.F.

    2016-01-01

    In this thesis research is presented on cell-free fetal DNA (cffDNA), which is present in plasma and serum of pregnant women. This fetal DNA can be used for fetal genotyping, but may also give indirect information on pregnancy and pregnancy outcome. The research consists of two sections. In the

  15. [Prevalence of Down syndrome using certificates of live births and fetal deaths in México 2008-2011].

    Science.gov (United States)

    Sierra Romero, María Del Carmen; Navarrete Hernández, Eduardo; Canún Serrano, Sonia; Reyes Pablo, Aldelmo E; Valdés Hernández, Javier

    Down syndrome (DS) or trisomy 21 is the most common genetic cause of mental retardation with the clinical presentation of a series of well-defined characteristics. Advanced maternal age has been associated with DS. The databases of all the certificates of live births and fetal deaths in Mexico were combined. Codes based on the International Classification of Diseases 10 th Revision (ICD-10) in Chapter XVII "Congenital malformations, deformations and chromosomal abnormalities" were selected. A database of 8,250,375 births during the period 2008-2011 was constructed: 99.2% were live births with 0.8% of fetal deaths and 3,076 cases diagnosed with DS. The importance of this report is to initiate an epidemiological surveillance of newborn cases of DS nationwide and by state using census information systems available in the country since 2008. An increased risk has been observed for having a child with DS since the mother is ≥ 35 years, as has been reported in other studies. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  16. The Normal Fetal Pancreas.

    Science.gov (United States)

    Kivilevitch, Zvi; Achiron, Reuven; Perlman, Sharon; Gilboa, Yinon

    2017-10-01

    The aim of the study was to assess the sonographic feasibility of measuring the fetal pancreas and its normal development throughout pregnancy. We conducted a cross-sectional prospective study between 19 and 36 weeks' gestation. The study included singleton pregnancies with normal pregnancy follow-up. The pancreas circumference was measured. The first 90 cases were tested to assess feasibility. Two hundred ninety-seven fetuses of nondiabetic mothers were recruited during a 3-year period. The overall satisfactory visualization rate was 61.6%. The intraobserver and interobserver variability had high interclass correlation coefficients of of 0.964 and 0.967, respectively. A cubic polynomial regression described best the correlation of pancreas circumference with gestational age (r = 0.744; P pancreas circumference percentiles for each week of gestation were calculated. During the study period, we detected 2 cases with overgrowth syndrome and 1 case with an annular pancreas. In this study, we assessed the feasibility of sonography for measuring the fetal pancreas and established a normal reference range for the fetal pancreas circumference throughout pregnancy. This database can be helpful when investigating fetomaternal disorders that can involve its normal development. © 2017 by the American Institute of Ultrasound in Medicine.

  17. Maternal and fetal insulin levels at birth in women with polycystic ovary syndrome: data from a randomized controlled study on metformin.

    Science.gov (United States)

    Helseth, Ragnhild; Vanky, Eszter; Stridsklev, Solhild; Vogt, Christina; Carlsen, Sven M

    2014-05-01

    Metformin is suggested to reduce pregnancy complications in women with polycystic ovary syndrome (PCOS). Metformin crosses the placenta and therapeutic concentrations are measured in the fetal circulation. Whether metformin treatment in pregnant PCOS women affects maternal and fetal insulin concentrations at birth is not clarified. To investigate the possible effect of metformin on insulin concentrations in umbilical cord blood and the possible association between maternal and fetal insulin concentrations. Post-hoc analysis of a subgroup of PCOS women participating in a double-blind randomized controlled trial. University hospital setting. Women with PCOS (n=118), aged 19-39 years. Maternal and umbilical cord insulin concentrations immediately after birth. At delivery women randomized to metformin had lower insulin concentrations than those randomized to placebo (259±209 vs 361±261 pmol/l; P=0.020). No difference was found in insulin concentrations in umbilical venous (P=0.95) and arterial (P=0.39) blood between the metformin and placebo groups. The arteriovenous difference was also equal between the groups (P=0.38). Insulin concentrations were higher in the umbilical vein than in the umbilical artery independent of randomization (70±51 vs 45±48 pmol/l; Pmetformin treatment during pregnancy resulted in lower maternal insulin concentrations at delivery. Metformin treatment did not affect fetal insulin concentrations. Higher insulin concentrations in the umbilical vein indicate that the placenta somehow secretes insulin to the fetus. The possibility of placental insulin secretion to the fetus deserves further investigations.

  18. Invasive Fetal Therapy: Global Status and Local Development

    Directory of Open Access Journals (Sweden)

    Ming Chen

    2004-12-01

    Full Text Available There are few congenital anomalies that can be treated in utero, despite the rapid development of fetal medicine. The number of available antenatal treatments is growing with the advance of supplementary tools, especially ultrasound and endoscopy. Disorders involving accumulation of excessive fluid in the amniotic cavity (polyhydramnios, chest (hydrothorax, abdomen (ascites and urinary system (obstructive uropathy are regularly treated using aspiration or shunt drainage under ultrasound monitoring. Electrolyte solutions or concentrated blood component supplements are used to treat oligohydramnios (amnioinfusion and amniopatch and fetal anemia (fetal transfusion. Placental tumor (chorioangioma and fetal tumors (cystic hygroma and sacrococcygeal teratoma are also successfully treated by antenatal injection of medications. Fetoscopic procedures, especially obstetric endoscopy, are now used regularly in North America, Europe, Australasia and Japan after the validity was established in the treatment of twin-twin transfusion syndrome when compared with traditional amnioreduction. However, most procedures involving surgical fetoscopy or open fetal surgery remain experimental. Their validity and efficacy are not confirmed in a number of fetal diseases for which they were claimed to be effective. A brief review of the global status and history of invasive fetal therapy is given, and its status in Taiwan is also described. Future development in this field relies on greater understanding of the basic physiology and pathology of the diseases involved, as well as on the progress of sophisticated instrumentation.

  19. Pathophysiological mechanisms in antiphospholipid syndrome

    Science.gov (United States)

    Harper, Brock E; Wills, Rohan; Pierangeli, Silvia S

    2013-01-01

    Antiphospholipid syndrome is a systemic autoimmune disease associated with thrombosis and recurrent fetal loss in the setting of detectable antiphospholipid (aPL) antibodies. The major antigenic target has been identifed as β2-glycoprotein I (β2GPI), which mediates binding of aPL antibodies to target cells including endothelial cells, monocytes, platelets and trophoblasts, leading to prothrombotic and proinfammatory changes that ultimately result in thrombosis and fetal loss. This article summarizes recent insights into the role of β2GPI in normal hemostasis, interactions between aPL antibodies, β2GPI and cell-surface molecules, molecular prothrombotic and proinfammatory changes induced by aPL antibodies and pathogenic changes leading to fetal loss in antiphospholipid syndrome. New directions in therapy using these insights are examined. PMID:23487578

  20. Hearing, speech, language, and vestibular disorders in the fetal alcohol syndrome: a literature review.

    Science.gov (United States)

    Church, M W; Kaltenbach, J A

    1997-05-01

    Fetal alcohol syndrome (FAS) is characterized in part by mental impairment, as well as craniofacial and ocular anomalies. These conditions are traditionally associated with childhood hearing disorders, because they all have a common embryonic origin in malformations of the first and second branchial arches, and have similar critical periods of vulnerability to toxic insult. A review of human and animal research indicates that there are four types of hearing disorders associated with FAS. These are: (1) a developmental delay in auditory maturation, (2) sensorineural hearing loss, (3) intermittent conductive hearing loss due to recurrent serous otitis media, and (4) central hearing loss. The auditory and vestibular systems share the same peripheral apparatuses (the inner ear and eighth cranial nerve) and are embryologically and structurally similar. Consequently, vestibular disorders in FAS children might be expected. The evidence for vestibular dysfunction in FAS is ambiguous, however. Like other syndromes associated with craniofacial anomalies, hearing disorders, and mental impairment, FAS is also characterized by a high prevalence of speech and language pathology. Hearing disorders are a form of sensory deprivation. If present during early childhood, they can result in permanent hearing, language, and mental impairment. Early identification and intervention to treat hearing, language, and speech disorders could therefore result in improved outcome for the FAS child. Specific recommendations are made for intervention and future research.

  1. The Fetal Alcohol Syndrome Public Awareness Campaign, 1979: Progress Report Concerning the Advance Notice of Proposed Rulemaking on Warning Labels on Containers of Alcoholic Beverages and Addendum.

    Science.gov (United States)

    Department of the Treasury, Washington, DC.

    This report provides expert opinion on the problems of fetal alcohol syndrome (FAS) and ways to inform the public of teratogenic risk of alcohol consumption during pregnancy. In the absence of firm evidence that moderate drinking of alcoholic beverages leads to FAS and uncertainty concerning the effectiveness of labeling of alcoholic beverages, a…

  2. A enfermeira pediatra cuidando de crianças/ adolescentes com Síndrome Alcoólica Fetal (SAF La enfermera pediatra cuidando de niños/adolescentes con el Síndrome Alcohólico Fetal (SAF The pediatrician nurse taking care of children/adolescents with Fetal Alcoholic Syndrome (SAF

    Directory of Open Access Journals (Sweden)

    Flávia Atanazio do Nascimento

    2007-12-01

    negación en verbalizar y mantener contacto visual, hiperactividad; dificultad de aprendizaje; dificultad en la coordinación motora; timidez y agitación psicomotora. Las necesidades afectadas fueron: hidratación, higiene oral, higiene corpórea, comunicación, coordinación motora, aprendizaje, educación alimentar, visión. Todos presentaron gran defasaje cuanto a la edad cronológica, edad de desarrollo y edad gráfica y cociente de desarrollo bajo.Study accomplished in a public Institution of Neurology, with six children with Fetal Alcoholic Syndrome (SAF. The Objectives were: To describe the basic human needs affected in children with Fetal Alcoholic Syndrome (SAF. To identify the areas of development harmed. To evaluate the children's development with Fetal Alcoholic Syndrome (SAF. Methodology: Researches qualitative. The study was approved by the Committee of Ethics and Research of Hospital Escola São Francisco de Assis (HESFA and school of Nurse Anna Nery. The development was evaluated by the scale of development of Heloisa Marinho. Results: All of the children presented discrepancy in the Mental; Social and Physical area. Children presented alienation, shyness, and refuse in to verbalize and to maintain visual contact and hyperactivity; learning difficulty; difficulty in the motive coordination; shyness; motive agitation. The affected needs were: hydration, oral hygiene, corporal hygiene, communication, motive coordination, learning, alimentary education, vision. All presented great discrepancy in relation to the chronological age, development age, graphic age and low development quotient.

  3. Prenatal Diagnosis of Isolated Fetal Hydrocolpos Secondary to Congenital Imperforate Hymen

    Directory of Open Access Journals (Sweden)

    Jenn-Jhy Tseng

    2008-06-01

    Full Text Available A 32-year-old primigravida was referred to our hospital at 36 weeks of gestation with a fetal pelvic mass. Ultrasonography showed the fluid-filled area to be a 9 × 4 × 5-cm pear-shaped retrovesical mass with a funnel-shaped blind pouch at the distal end of the fetal vagina. Marked left hydronephrosis resulting from mass compression was also detected. Fetal magnetic resonance imaging further defined a pelvic lesion extending cephalically into the abdomen and caudally into the vagina. Membranal protrusion of the introitus was clearly identified. Therefore, the diagnosis of congenital imperforate hymen with hydrocolpos was established. At 38 weeks of gestation, a 2,966-g female infant was delivered vaginally with good Apgar scores. Physical examination of the neonate revealed a bulging membrane covering the vaginal opening. The presence of syndromic disorders (McKusick-Kaufman, Ellis-van Creveld or Bardet-Biedl syndromes, genitourinary and anorectal anomalies were excluded. The karyotype was 46, XX. A hymenotomy was performed on the second day of life. The infant recovered fully after hymenotomy.

  4. Fetal programming and early identification of newborns at high risk of free radical-mediated diseases.

    Science.gov (United States)

    Perrone, Serafina; Santacroce, Antonino; Picardi, Anna; Buonocore, Giuseppe

    2016-05-08

    Nowadays metabolic syndrome represents a real outbreak affecting society. Paradoxically, pediatricians must feel involved in fighting this condition because of the latest evidences of developmental origins of adult diseases. Fetal programming occurs when the normal fetal development is disrupted by an abnormal insult applied to a critical point in intrauterine life. Placenta assumes a pivotal role in programming the fetal experience in utero due to the adaptive changes in structure and function. Pregnancy complications such as diabetes, intrauterine growth restriction, pre-eclampsia, and hypoxia are associated with placental dysfunction and programming. Many experimental studies have been conducted to explain the phenotypic consequences of fetal-placental perturbations that predispose to the genesis of metabolic syndrome, obesity, diabetes, hyperinsulinemia, hypertension, and cardiovascular disease in adulthood. In recent years, elucidating the mechanisms involved in such kind of process has become the challenge of scientific research. Oxidative stress may be the general underlying mechanism that links altered placental function to fetal programming. Maternal diabetes, prenatal hypoxic/ischaemic events, inflammatory/infective insults are specific triggers for an acute increase in free radicals generation. Early identification of fetuses and newborns at high risk of oxidative damage may be crucial to decrease infant and adult morbidity.

  5. simple algorithm in the management of fetal sacroccocygeal

    African Journals Online (AJOL)

    significant effect on the health of the pregnant mother as it may be associated with severe anaemia, cardiac failure, maternal mirror syndrome and even death. The developing fetus with SCT is prone to high output ... echocardiography and doppler echocardiography. Fetal. MRI is observed to give a clearer configuration of.

  6. Transfusion syndromes in monochorionic multiplets: An overview

    African Journals Online (AJOL)

    come for attention to be focused on an area of gemellology, feto‑fetal transfusion syndromes in multiplets, in order ... These health hazards, all causes of very high perinatal ..... of monochorionic twin pregnancy complicated with selective fetal.

  7. Fetal programming of adrenal androgen excess: lessons from a nonhuman primate model of polycystic ovary syndrome.

    Science.gov (United States)

    Abbott, David H; Zhou, Rao; Bird, Ian M; Dumesic, Daniel A; Conley, Alan J

    2008-01-01

    Adrenal androgen excess is found in adult female rhesus monkeys previously exposed to androgen treatment during early gestation. In adulthood, such prenatally androgenized female monkeys exhibit elevated basal circulating levels of dehydroepiandrosterone sulfate (DHEAS), typical of polycystic ovary syndrome (PCOS) women with adrenal androgen excess. Further androgen and glucocorticoid abnormalities in PA female monkeys are revealed by acute ACTH stimulation: DHEA, androstenedione and corticosterone responses are all elevated compared to responses in controls. Pioglitazone treatment, however, diminishes circulating DHEAS responses to ACTH in both prenatally androgenized and control female monkeys, while increasing the 17-hydroxyprogesterone response and reducing the DHEA to 17-hydroxyprogesterone ratio. Since 60-min post-ACTH serum values for 17-hydroxyprogesterone correlate negatively with basal serum insulin levels (all female monkeys on pioglitazone and placebo treatment combined), while similar DHEAS values correlate positively with basal serum insulin levels, circulating insulin levels may preferentially support adrenal androgen biosynthesis in both prenatally androgenized and control female rhesus monkeys. Overall, our findings suggest that differentiation of the monkey adrenal cortex in a hyperandrogenic fetal environment may permanently upregulate adult adrenal androgen biosynthesis through specific elevation of 17,20-lyase activity in the zona fasciculata-reticularis. As adult prenatally androgenized female rhesus monkeys closely emulate PCOS-like symptoms, excess fetal androgen programming may contribute to adult adrenal androgen excess in women with PCOS.

  8. Maternal risk factors for fetal alcohol syndrome and partial fetal alcohol syndrome in South Africa: a third study.

    Science.gov (United States)

    May, Philip A; Gossage, J Phillip; Marais, Anna-Susan; Hendricks, Loretta S; Snell, Cudore L; Tabachnick, Barbara G; Stellavato, Chandra; Buckley, David G; Brooke, Lesley E; Viljoen, Denis L

    2008-05-01

    This is a third exploration of risk factors for the two most severe forms of fetal alcohol spectrum disorders (FASD), fetal alcohol syndrome (FAS) and Partial FAS (PFAS), in a South African community with the highest reported prevalence of FAS in the world. In a case control design, interview and collateral data concerning mothers of 72 first grade children with FAS or PFAS are compared with 134 randomly selected maternal controls of children from the same schools. Significant differences were found between the mothers of FASD children and controls in socio-economic status, educational attainment, and a higher prevalence of FASD among rural residents. The birth order of the index children, gravidity, and still birth were significantly higher among mothers of FASD children. Mothers of children with a FASD are less likely to be married and more likely to have a male partner who drank during the index pregnancy. Current and gestational alcohol use by mothers of FASD children is bingeing on weekends, with no reduction in drinking reported in any trimester in 75 to 90% of the pregnancies that resulted in an FAS child or during 50 to 87% of PFAS-producing pregnancies. There was significantly less drinking among the controls in the second and third trimesters (11 to 14%). Estimated peak blood alcohol concentrations (BAC)s of the mothers of PFAS children range from 0.155 in the first trimester to 0.102 in the third, and for mothers of FAS children the range is from 0.197 to 0.200 to 0.191 in the first, second, and third. Smoking percentage during pregnancy was significantly higher for mothers of FASD children (82 to 84%) than controls (35%); but average quantity smoked is low in the 3 groups at 30 to 41 cigarettes per week. A relatively young average age of the mother at the time of FAS and PFAS births (28.8 and 24.8 years respectively) is not explained by early onset of regular drinking (mean = 20.3 to 20.5 years of age). But the mean years of alcohol consumption is

  9. Fetal alcohol exposure and development of the integument

    Directory of Open Access Journals (Sweden)

    Longhurst WD

    2016-05-01

    Full Text Available William D Longhurst,1 Jordan Ernst,2 Larry Burd3 1Center for Emergency Medicine, University Hospitals Case Medical Center, Case Western Reserve University, Cleveland, OH, USA; 2University of North Dakota School of Medicine and Health Sciences, Grand Forks, ND, USA; 3Department of Pediatrics, North Dakota Fetal Alcohol Syndrome Center, University of North Dakota School of Medicine and Health Sciences, Grand Forks, ND, USA Background: The physiology of fetal alcohol exposure changes across gestation. Early in pregnancy placental, fetal, and amniotic fluid concentrations of alcohol exposure are equivalent. Beginning in mid-pregnancy, the maturing fetal epidermis adds keratins which decrease permeability resulting in development of a barrier between fetal circulation and the amniotic fluid. Barrier function development is essential for viability in late pregnancy and in the extra-uterine environment. In this paper we provide a selected review of the effects of barrier function on fetal alcohol exposure. Methods: We utilized a search of PubMed and Google for all years in all languages for MeSH on Demand terms: alcohol drinking, amnion, amniotic fluid, epidermis, ethanol, female, fetal development, fetus, humans, keratins, permeability, and pregnancy. We also reviewed the reference lists of relevant papers and hand-searched reference lists of textbooks for additional references. Results: By 30 gestational weeks, development of barrier function alters the pathophysiology of ethanol dispersion between the fetus and amniotic fluid. Firstly, increases in the effectiveness of barrier function decreases the rate of diffusion of alcohol from fetal circulation across fetal skin into the amniotic fluid. This reduces the volume of alcohol entering the amniotic fluid. Secondly, barrier function increases the duration of fetal exposure by decreasing the rate of alcohol diffusion from amniotic fluid back into fetal circulation. Ethanol is then transported into

  10. Imaging clues in the prenatal diagnosis of syndromes and aneuploidy

    International Nuclear Information System (INIS)

    Estroff, Judy A.

    2012-01-01

    Advances in fetal sonography and MRI have increased both the range and diagnostic accuracy of detectable fetal anomalies, with many anomalies detectable earlier in pregnancy. The presence of structural anomalies greatly raises the risk that the fetus has a syndrome or abnormal karyotype. In addition, new techniques in maternal serum screening have greatly increased the ability to identify pregnant patients at risk for anomalies and syndromes. This paper reviews maternal first- and second-trimester serum screening and imaging and covers many of the most common fetal karyotypic and structural anomalies. (orig.)

  11. Imaging clues in the prenatal diagnosis of syndromes and aneuploidy

    Energy Technology Data Exchange (ETDEWEB)

    Estroff, Judy A. [Harvard Medical School, Fetal-Neonatal Radiology, Boston, MA (United States); Children' s Hospital Boston, Advanced Fetal Care Center, Department of Radiology, Boston, MA (United States)

    2012-01-15

    Advances in fetal sonography and MRI have increased both the range and diagnostic accuracy of detectable fetal anomalies, with many anomalies detectable earlier in pregnancy. The presence of structural anomalies greatly raises the risk that the fetus has a syndrome or abnormal karyotype. In addition, new techniques in maternal serum screening have greatly increased the ability to identify pregnant patients at risk for anomalies and syndromes. This paper reviews maternal first- and second-trimester serum screening and imaging and covers many of the most common fetal karyotypic and structural anomalies. (orig.)

  12. Liquid-Diet with Alcohol Alters Maternal, Fetal and Placental Weights and the Expression of Molecules Involved in Integrin Signaling in the Fetal Cerebral Cortex

    Directory of Open Access Journals (Sweden)

    Ujjwal K. Rout

    2010-11-01

    Full Text Available Maternal alcohol consumption during pregnancy causes wide range of behavioral and structural deficits in children, commonly known as Fetal Alcohol Syndrome (FAS. Children with FAS may suffer behavioral deficits in the absence of obvious malformations. In rodents, the exposure to alcohol during gestation changes brain structures and weights of offspring. The mechanism of FAS is not completely understood. In the present study, an established rat (Long-Evans model of FAS was used. The litter size and the weights of mothers, fetuses and placentas were examined on gestation days 18 or 20. On gestation day 18, the effects of chronic alcohol on the expression levels of integrin receptor subunits, phospholipase-Cγ and N-cadherin were examined in the fetal cerebral cortices. Presence of alcohol in the liquid-diet reduced the consumption and decreased weights of mothers and fetuses but increased the placental weights. Expression levels of β1 and α3 integrin subunits and phospholipase-Cγ2 were significantly altered in the fetal cerebral cortices of mothers on alcohol containing diet. Results show that alcohol consumption during pregnancy even with protein, mineral and vitamin enriched diet may affect maternal and fetal health, and alter integrin receptor signaling pathways in the fetal cerebral cortex disturbing the development of fetal brains.

  13. Fetal origin of vascular aging

    Directory of Open Access Journals (Sweden)

    Shailesh Pitale

    2011-01-01

    Full Text Available Aging is increasingly regarded as an independent risk factor for development of cardiovascular diseases such as atherosclerosis and hypertension and their complications (e.g. MI and Stroke. It is well known that vascular disease evolve over decades with progressive accumulation of cellular and extracellular materials and many inflammatory processes. Metabolic syndrome, obesity and diabetes are conventionally recognized as risk factors for development of coronary vascular disease (CVD. These conditions are known to accelerate ageing process in general and vascular ageing in particular. Adverse events during intrauterine life may programme organ growth and favour disease later in life, popularly known as, ′Barker′s Hypothesis′. The notion of fetal programming implies that during critical periods of prenatal growth, changes in the hormonal and nutritional milieu of the conceptus may alter the full expression of the fetal genome, leading to permanent effects on a range of physiological.

  14. DNA-methylation profiling of fetal tissues reveals marked epigenetic differences between chorionic and amniotic samples.

    Directory of Open Access Journals (Sweden)

    Christel Eckmann-Scholz

    Full Text Available Epigenetic mechanisms including DNA methylation are supposed to play a key role in fetal development. Here we have investigated fetal DNA-methylation levels of 27,578 CpG loci in 47 chorionic villi (CVS and 16 amniotic cell (AC samples. Methylation levels differed significantly between karyotypically normal AC and CVS for 2,014 genes. AC showed more extreme DNA-methylation levels of these genes than CVS and the differentially methylated genes are significantly enriched for processes characteristic for the different cell types sampled. Furthermore, we identified 404 genes differentially methylated in CVS with trisomy 21. These genes were significantly enriched for high CG dinucleotid (CpG content and developmental processes associated with Down syndrome. Our study points to major tissue-specific differences of fetal DNA-methylation and gives rise to the hypothesis that part of the Down syndrome phenotype is epigenetically programmed in the first trimester of pregnancy.

  15. Population differences in dysmorphic features among children with fetal alcohol spectrum disorders.

    Science.gov (United States)

    May, Philip A; Gossage, J Phillip; Smith, Matthew; Tabachnick, Barbara G; Robinson, Luther K; Manning, Melanie; Cecanti, Mauro; Jones, Kenneth Lyons; Khaole, Nathaniel; Buckley, David; Kalberg, Wendy O; Trujillo, Phyllis M; Hoyme, H Eugene

    2010-05-01

    To examine the variation in significant dysmorphic features in children from 3 different populations with the most dysmorphic forms of fetal alcohol spectrum disorders, fetal alcohol syndrome (FAS), and partial fetal alcohol syndrome (PFAS). Advanced multiple regression techniques are used to determine the discriminating physical features in the diagnosis of FAS and PFAS among children from Northern Plains Indian communities, South Africa, and Italy. Within the range of physical features used to identify children with fetal alcohol spectrum disorders, specifically FAS and PFAS, there is some significant variation in salient diagnostic features from one population to the next. Intraclass correlations in diagnostic features between these 3 populations is 0.20, indicating that about 20% of the variability in dysmorphology core features is associated with location and, therefore, specific racial/ethnic population. The highly significant diagnostic indicators present in each population are identified for the full samples of FAS, PFAS, and normals and also among children with FAS only. A multilevel model for these populations combined indicates that these variables predict dysmorphology unambiguously: small palpebral fissures, narrow vermillion, smooth philtrum, flat nasal bridge, and fifth finger clinodactyly. Long philtrum varies substantially as a predictor in the 3 populations. Predictors not significantly related to fetal alcohol spectrum disorders dysmorphology across the 3 populations are centile of height (except in Italy) strabismus, interpupilary distance, intercanthal distance, and heart murmurs. The dysmorphology associated with FAS and PFAS vary across populations, yet a particular array of common features occurs in each population, which permits a consistent diagnosis across populations.

  16. Fetal red blood cell parameters in thalassemia and hemoglobinopathies.

    Science.gov (United States)

    Karnpean, Rossarin; Fucharoen, Goonnapa; Fucharoen, Supan; Ratanasiri, Thawalwong

    2013-01-01

    With the lack of fetal blood specimens in routine practice, little is known about red blood cell (RBC) parameters of fetuses with various thalassemia syndromes. This study aimed to describe these in various forms of thalassemia. The study was performed on 93 fetal blood specimens obtained from pregnant women by cordocentesis during 18-24 weeks of gestation. RBC parameters were recorded on automated analyzer. Hemoglobin (Hb) and DNA analyses were performed for definite genotyping. No significant difference in RBC parameters was observed between non-thalassemic fetuses and those with β-thalassemia trait, Hb E trait, homozygous Hb E and β-thalassemia/Hb E disease. However, in those with α(0)-thalassemia trait and double heterozygous α(0)-thalassemia/Hb E, slight reduction in mean corpuscular volume (MCV) was noted. Fetuses with the Hb H disease showed significant reductions in Hb, MCV and mean corpuscular Hb (MCH). Marked reductions in Hb, hematocrit, MCH and mean cell Hb concentration and increased RBC distribution width with numerous nucleated RBC were clearly observed in Hb Bart's hydrops fetalis. Simple analysis of fetal RBC parameters is useful for making presumptive prenatal diagnosis of α-thalassemia syndromes including Hb H disease and Hb Bart's hydrops fetalis which can then be confirmed by Hb and DNA analyses. Copyright © 2013 S. Karger AG, Basel.

  17. GLIA AND NEURODEVELOPMENT: FOCUS ON FETAL ALCOHOL SPECTRUM DISORDERS

    Directory of Open Access Journals (Sweden)

    Marina eGuizzetti

    2014-11-01

    Full Text Available During the last 20 years new and exciting roles for glial cells in brain development have been described. Moreover, several recent studies implicated glial cells in the pathogenesis of neurodevelopmental disorders including Down syndrome, Fragile X syndrome, Rett Syndrome, Autism Spectrum Disorders, and Fetal Alcohol Spectrum Disorders (FASD.Abnormalities in glial cell development and proliferation and increased glial cell apoptosis contribute to the adverse effects of ethanol on the developing brain and it is becoming apparent that the effects of fetal alcohol are due, at least in part, to effects on glial cells affecting their ability to modulate neuronal development and function. The three major classes of glial cells, astrocytes, oligodendrocytes, and microglia as well as their precursors are affected by ethanol during brain development. Alterations in glial cell functions by ethanol dramatically affect neuronal development, survival, and function and ultimately impair the development of the proper brain architecture and connectivity. For instance, ethanol inhibits astrocyte-mediated neuritogenesis and oligodendrocyte development, survival and myelination; furthermore, ethanol induces microglia activation and oxidative stress leading to the exacerbation of ethanol-induced neuronal cell death.This review article describes the most significant recent findings pertaining the effects of ethanol on glial cells and their significance in the pathophysiology of FASD and other neurodevelopmental disorders.

  18. Investigation of normal organ development with fetal MRI

    International Nuclear Information System (INIS)

    Prayer, Daniela; Brugger, Peter C.

    2007-01-01

    The understanding of the presentation of normal organ development on fetal MRI forms the basis for recognition of pathological states. During the second and third trimesters, maturational processes include changes in size, shape and signal intensities of organs. Visualization of these developmental processes requires tailored MR protocols. Further prerequisites for recognition of normal maturational states are unequivocal intrauterine orientation with respect to left and right body halves, fetal proportions, and knowledge about the MR presentation of extrafetal/intrauterine organs. Emphasis is laid on the demonstration of normal MR appearance of organs that are frequently involved in malformation syndromes. In addition, examples of time-dependent contrast enhancement of intrauterine structures are given. (orig.)

  19. Investigation of normal organ development with fetal MRI

    Energy Technology Data Exchange (ETDEWEB)

    Prayer, Daniela [Medical University of Vienna, Department of Radiology, Vienna (Austria); Brugger, Peter C. [Medical University of Vienna, Center of Anatomy and Cell Biology, Integrative Morphology Group, Vienna (Austria)

    2007-10-15

    The understanding of the presentation of normal organ development on fetal MRI forms the basis for recognition of pathological states. During the second and third trimesters, maturational processes include changes in size, shape and signal intensities of organs. Visualization of these developmental processes requires tailored MR protocols. Further prerequisites for recognition of normal maturational states are unequivocal intrauterine orientation with respect to left and right body halves, fetal proportions, and knowledge about the MR presentation of extrafetal/intrauterine organs. Emphasis is laid on the demonstration of normal MR appearance of organs that are frequently involved in malformation syndromes. In addition, examples of time-dependent contrast enhancement of intrauterine structures are given. (orig.)

  20. Prevalence of fetal alcohol syndrome in a population-based sample of children living in remote Australia: the Lililwan Project.

    Science.gov (United States)

    Fitzpatrick, James P; Latimer, Jane; Carter, Maureen; Oscar, June; Ferreira, Manuela L; Carmichael Olson, Heather; Lucas, Barbara R; Doney, Robyn; Salter, Claire; Try, Julianne; Hawkes, Genevieve; Fitzpatrick, Emily; Hand, Marmingee; Watkins, Rochelle E; Martiniuk, Alexandra L C; Bower, Carol; Boulton, John; Elliott, Elizabeth J

    2015-04-01

    Aboriginal leaders concerned about high rates of alcohol use in pregnancy invited researchers to determine the prevalence of fetal alcohol syndrome (FAS) and partial fetal alcohol syndrome (pFAS) in their communities. Population-based prevalence study using active case ascertainment in children born in 2002/2003 and living in the Fitzroy Valley, in Western Australia (April 2010-November 2011) (n = 134). Socio-demographic and antenatal data, including alcohol use in pregnancy, were collected by interview with 127/134 (95%) consenting parents/care givers. Maternal/child medical records were reviewed. Interdisciplinary assessments were conducted for 108/134 (81%) children. FAS/pFAS prevalence was determined using modified Canadian diagnostic guidelines. In 127 pregnancies, alcohol was used in 55%. FAS or pFAS was diagnosed in 13/108 children, a prevalence of 120 per 1000 (95% confidence interval 70-196). Prenatal alcohol exposure was confirmed for all children with FAS/pFAS, 80% in the first trimester and 50% throughout pregnancy. Ten of 13 mothers had Alcohol Use Disorders Identification Test scores and all drank at a high-risk level. Of children with FAS/pFAS, 69% had microcephaly, 85% had weight deficiency and all had facial dysmorphology and central nervous system abnormality/impairment in three to eight domains. The population prevalence of FAS/pFAS in remote Aboriginal communities of the Fitzroy Valley is the highest reported in Australia and similar to that reported in high-risk populations internationally. Results are likely to be generalisable to other age groups in the Fitzroy Valley and other remote Australian communities with high-risk alcohol use during pregnancy. Prevention of FAS/pFAS is an urgent public health challenge. © 2015 The Authors. Journal of Paediatrics and Child Health © 2015 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  1. Diagnostic value of ultrafast fetal MRI

    International Nuclear Information System (INIS)

    Stoisa, Daniela; De Luca, Silvina E.; Florenzano, Nestor V.; Mondello, Eduardo J.; Eyheremendy, Eduardo; Heinen, Fernando; Margulies, Daniel

    2003-01-01

    Purpose: To analyze cases of fetal pathology evaluated by Ultra Fast MR sequences. Material and methods: 12 patients (2nd. and 3rd. trimester of pregnancy) have been studied by obstetric US and MR. Results: In our series we found intestinal duplication cyst, ureteropelvic junction obstruction and multicystic dysplastic kidney, esophageal atresia, acardia, anencephalic syndrome, semilobar holoprosencephaly, congenital diafragmatic hernia, cystic adenomatoid malformation, onphalocele and several scoliosis, duodenal stenosis, cervical teratoma and uretral atresia. In 8/12 cases (66%) MRI provide additional information as compared to US. Conclusion: The Ultra Fast MR sequences allows the evaluation of patients in the second and third trimester of pregnancy without sedation. It should be considered as a complementary method of the US to confirm fetal anomalies. The information provided by MRI is useful in planning adequate therapeutic decisions. (author)

  2. Zika Virus Infection in Pregnancy, Microcephaly, and Maternal and Fetal Health: What We Think, What We Know, and What We Think We Know.

    Science.gov (United States)

    Alvarado, Maria Gabriela; Schwartz, David A

    2017-01-01

    -The global epidemic of Zika virus (ZIKV) infection has emerged as an important public health problem affecting pregnant women and their infants. -To review the causal association between ZIKV infection during pregnancy and intrauterine fetal infection, microcephaly, brain damage, congenital malformation syndrome, and experimental laboratory models of fetal infection. Many questions remain regarding the risk factors, pathophysiology, epidemiology, and timing of maternal-fetal transmission and disease. These include mechanisms of fetal brain damage and microcephaly; the role of covariables, such as viral burden, duration of viremia, and host genetics, on vertical transmission; and the clinical and pathologic spectrum of congenital Zika syndrome. Additional questions include defining the potential long-term physical and neurobehavioral outcomes for infected infants, whether maternal or fetal host genetics influence the clinical outcome, and whether ZIKV infection can cause maternal morbidity. Finally, are experimental laboratory and animal models of ZIKV infection helpful in addressing maternal-fetal viral transmission and the development of congenital microcephaly? This communication provides current information and attempts to address some of these important questions. -Comprehensive review of published scientific literature. -Recent advances in epidemiology, clinical medicine, pathology, and experimental studies have provided a great amount of new information regarding vertical ZIKV transmission and the mechanisms of congenital microcephaly, brain damage, and congenital Zika syndrome in a relatively short time. However, much work still needs to be performed to more completely understand the maternal and fetal aspects of this new and emerging viral disease.

  3. Impact of fetal echocardiography

    International Nuclear Information System (INIS)

    Simpson, John M

    2009-01-01

    Prenatal diagnosis of congenital heart disease is now well established for a wide range of cardiac anomalies. Diagnosis of congenital heart disease during fetal life not only identifies the cardiac lesion but may also lead to detection of associated abnormalities. This information allows a detailed discussion of the prognosis with parents. For continuing pregnancies, appropriate preparation can be made to optimize the postnatal outcome. Reduced morbidity and mortality, following antenatal diagnosis, has been reported for coarctation of the aorta, hypoplastic left heart syndrome, and transposition of the great arteries. With regard to screening policy, most affected fetuses are in the “low risk” population, emphasizing the importance of appropriate training for those who undertake such obstetric anomaly scans. As a minimum, the four chamber view of the fetal heart should be incorporated into midtrimester anomaly scans, and where feasible, views of the outflow tracts should also be included, to increase the diagnostic yield. Newer screening techniques, such as measurement of nuchal translucency, may contribute to identification of fetuses at high risk for congenital heart disease and prompt referral for detailed cardiac assessment

  4. Teaching Students with Fetal Alcohol Spectrum Disorder: Building Strengths, Creating Hope. Programming for Students with Special Needs. Book 10

    Science.gov (United States)

    Clarren, Sandra G. Bernstein

    2004-01-01

    "Teaching Students with Fetal Alcohol Spectrum Disorder: Building Strengths, Creating Hope" is Book 10 in the Programming for Students with Special Needs series; a revision and expansion of the 1997 Alberta Learning teacher resource, "Teaching Students with Fetal Alcohol Syndrome and Possible Prenatal Alcohol-Related Effects."…

  5. Prenatal Diagnosis of Transient Abnormal Myelopoiesis in a Down Syndrome Fetus

    International Nuclear Information System (INIS)

    Kim, Gwang Jun; Lee, Eun Sil

    2009-01-01

    We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28 +3 weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis. Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management

  6. Lens artifacts in human fetal eyes - the challenge of interpreting the histomorphology of human fetal lenses.

    Science.gov (United States)

    Herwig, Martina C; Müller, Annette M; Klarmann-Schulz, Ute; Holz, Frank G; Loeffler, Karin U

    2014-01-01

    Evaluation of the lens, including cataractous changes, is often of paramount importance in the classification of fetal syndromes or forensic questions. On histology, the crystalline lens is - especially in fetal and infant eyes - an organ susceptible to numerous artifacts. Thus, the aim of our study was to study various factors (including fixatives) that might have an impact on lens histomorphology. Twenty eyes from ten fetuses (formalin fixation: n = 10, glutaraldehyde fixation: n = 10), matched for gestational age and abortion (spontaneous vs. induced), were investigated macroscopically and by light microscopy. Sections were stained with routine hematoxylin & eosin (H&E), and periodic acid schiff (PAS). The age of the fetal eyes ranged from 15 to 36 weeks of gestation. Lens artifacts were analyzed and compared to fetal and adult lenses with definitive cataractous changes. In addition, 34 eyes from 27 fetuses with trisomy 21 were investigated for lens changes. All lenses showed artifacts of varying extent, in particular globules, vacuoles, clefts, anterior/posterior capsular separation, subcapsular proteinaceous material, fragmentation of the lens capsule/epithelium, and a posterior umbilication. Glutaraldehyde-fixed lenses displayed less artifacts compared to those fixed in formalin. Slight differences in the appearance of artifacts were found dependent on the fixative (formaldehyde vs glutaraldehyde) and the kind of abortion (iatrogenous vs spontaneous). The gestational age did not have a significant influence on the type and extent of lens artifacts. The lenses from fetuses with trisomy 21 displayed similar lens artifacts with no specific findings. Alterations in fetal lens morphology are extremely frequent and variable. These artifacts have to be carefully taken into account when interpreting post-mortem findings. Thus, the postmortem diagnosis of a fetal cataract should be made with great caution, and should include, in adherence to our proposed

  7. Differences between Angus and Holstein cattle in the Lupinus leucophyllus induced inhibition of fetal activity.

    Science.gov (United States)

    Green, Benedict T; Panter, Kip E; Lee, Stephen T; Welch, Kevin D; Pfister, James A; Gardner, Dale R; Stegelmeier, Bryan L; Davis, T Zane

    2015-11-01

    Calves with congenital defects born to cows that have grazed teratogenic Lupinus spp. during pregnancy can suffer from what is termed crooked calf syndrome. Crooked calf syndrome defects include cleft palate, spinal column defects and limb malformations formed by alkaloid-induced inhibition of fetal movement. In this study, we tested the hypothesis that there are differences in fetal activity of fetuses carried by Holstein verses Angus heifers orally dosed with 1.1 g/kg dried ground Lupinus leucophyllus. Fetal activity was monitored via transrectal ultrasonography and maternal serum was analyzed for specific lupine alkaloids. There were more (P Angus heifers at eight and 12 h after oral dosing. In addition to serum alkaloid toxicokinetic differences, the Holstein heifers had significantly lower serum concentrations of anagyrine at 2, 4, and 8 h after oral dosing than Angus heifers. Holstein heifers also had significantly greater serum concentrations of lupanine at 12, 18 and 24 h after dosing than the Angus heifers. These results suggest that there are breed differences in susceptibility to lupine-induced crooked calf syndrome. These differences may also be used to discover genetic markers that identify resistant animals, thus facilitating selective breeding of resistant herds. Published by Elsevier Ltd.

  8. Prenatal Diagnosis of Transient Abnormal Myelopoiesis in a Down Syndrome Fetus

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Gwang Jun; Lee, Eun Sil [Chung-Ang University School of Medicine, Seoul (Korea, Republic of)

    2009-04-15

    We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28{sup +3} weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis. Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management.

  9. Fetal echocardiography

    International Nuclear Information System (INIS)

    Chaubal, Nitin G.; Chaubal, Jyoti

    2009-01-01

    USG performed with a high-end machine, using a good cine-loop facility is extremely helpful in the diagnosis of fetal cardiac anomalies. In fetal echocardiography, the four-chamber view and the outflow-tract view are used to diagnose cardiac anomalies. The most important objective during a targeted anomaly scan is to identify those cases that need a dedicated fetal echocardiogram. Associated truncal and chromosomal anomalies need to be identified. This review shows how fetal echocardiography, apart from identifying structural defects in the fetal heart, can be used to look at rhythm abnormalities and other functional aspects of the fetal heart

  10. Fetal chromosome analysis: screening for chromosome disease?

    DEFF Research Database (Denmark)

    Philip, J; Tabor, Ann; Bang, J

    1983-01-01

    The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...

  11. Fetal magnetic resonance: technique applications and normal fetal anatomy

    International Nuclear Information System (INIS)

    Martin, C.; Darnell, A.; Duran, C.; Mellado, F.; Corona, M

    2003-01-01

    Ultrasonography is the preferred diagnostic imaging technique for intrauterine fetal examination. Nevertheless, circumstances sometimes dictate the use of other techniques in order to analyze fetal structures. The advent of ultra rapid magnetic resonance (MR) sequencing has led to the possibility of doing MR fetal studies, since images are obtained in an extradordiarily short time and are not affected by either maternal or fetal movements. It does not employ ionizing radiations, it provides high-contrast images and it can obtain such images in any plane of space without being influenced by either the child bearer's physical characteristics of fetal position. MR provides good quality images of most fetal organs. It is extremely useful in analysing distinct structures, as well as permitting an evaluation of cervical structures, lungs, diaphragms, intra-abdominal and retroperitoneal structures, and fetal extremities. It can also provide useful information regarding the placenta,umbilical cord, amniotic fluid and uterus. The objective of this work is to describe MR technique as applied to intrauterine fetal examination, and to illustrate normal fetal anatomy as manifested by MR and its applications. (Author) 42 refs

  12. Analysis of fetal movements by Doppler actocardiogram and fetal B-mode imaging.

    Science.gov (United States)

    Maeda, K; Tatsumura, M; Utsu, M

    1999-12-01

    We have presented that fetal surveillance may be enhanced by use of the fetal actocardiogram and by computerized processing of fetal motion as well as fetal B-mode ultrasound imaging. Ultrasonic Doppler fetal actogram is a sensitive and objective method for detecting and recording fetal movements. Computer processing of the actograph output signals enables powerful, detailed, and convenient analysis of fetal physiologic phenomena. The actocardiogram is a useful measurement tool not only in fetal behavioral studies but also in evaluation of fetal well-being. It reduces false-positive, nonreactive NST and false-positive sinusoidal FHR pattern. It is a valuable tool to predict fetal distress. The results of intrapartum fetal monitoring are further improved by the antepartum application of the actocardiogram. Quantified fetal motion analysis is a useful, objective evaluation of the embryo and fetus. This method allows monitoring of changes in fetal movement, as well as frequency, amplitude, and duration. Furthermore, quantification of fetal motion enables evaluation of fetal behavior states and how these states relate to other measurements, such as changes in FHR. Numeric analysis of both fetal actogram and fetal motion from B-mode images is a promising application in the correlation of fetal activity or behavior with other fetal physiologic measurements.

  13. Intrapartum fetal heart rate profiles with and without fetal asphyxia.

    Science.gov (United States)

    Low, J A; Pancham, S R; Worthington, D N

    1977-04-01

    Fetal heart rate profiles for periods up to 12 hours prior to delivery have been reviewed in 515 patients with a fetus at risk. Mechanisms other than fetal asphyxia will cause fetal heart rate decelerations, and fetal asphyxia may in some instances develop in the absence of total or late decelerations. However, an increasing incidence of total decelerations and late decelerations and particularly a marked pattern of total decelerations and late decelerations are of value in the prediction of fetal asphyxia. Fetal heart rate deceleration patterns can predict the probability of fetal asphyxia at the time of initial intervention, while a progression of fetal heart rate deceleration patterns in the individual fetus can be of assistance in the subsequent scheduling of serial acid-base assessments during labor.

  14. Effect of ethanol consumption during gestation on maternal-fetal amino acid metabolism in the rat

    International Nuclear Information System (INIS)

    Lin, G.W.

    1981-01-01

    The distribution of 14 C-alpha-aminoisobutyric acid (AIB), administered intravenously, in maternal, fetal and placental tissues was examined in the rat on gestation-day 21. Ethanol consumption during gestation (day 6 through 21) significantly reduced the uptake of AIB by the placenta and fetus while exerting no influence on maternal tissue AIB uptake. The concentration of fetal plasma free histidine was decreased 50% as a result of maternal ethanol ingestion, but the free histidine level of maternal plasma was not altered. Since no effect on protein content of fetal tissue could be detected, it is speculated that reduced histidine to the fetus might significantly alter the amounts of histamine and carnosine formed via their precursor. The significance of these findings in relation to the Fetal Alcohol Syndrome is discussed

  15. Placental vascular pathology and increased thrombin generation as mechanisms of disease in obstetrical syndromes

    Directory of Open Access Journals (Sweden)

    Salvatore Andrea Mastrolia

    2014-11-01

    Full Text Available Obstetrical complications including preeclampsia, fetal growth restriction, preterm labor, preterm prelabor rupture of membranes and fetal demise are all the clinical endpoint of several underlying mechanisms (i.e., infection, inflammation, thrombosis, endocrine disorder, immunologic rejection, genetic, and environmental, therefore, they may be regarded as syndromes. Placental vascular pathology and increased thrombin generation were reported in all of these obstetrical syndromes. Moreover, elevated concentrations of thrombin-anti thrombin III complexes and changes in the coagulation as well as anticoagulation factors can be detected in the maternal circulation prior to the clinical development of the disease in some of these syndromes. In this review, we will assess the changes in the hemostatic system during normal and complicated pregnancy in maternal blood, maternal–fetal interface and amniotic fluid, and describe the contribution of thrombosis and vascular pathology to the development of the great obstetrical syndromes.

  16. The effect of fetal sex on customized fetal growth charts.

    Science.gov (United States)

    Rizzo, Giuseppe; Prefumo, Federico; Ferrazzi, Enrico; Zanardini, Cristina; Di Martino, Daniela; Boito, Simona; Aiello, Elisa; Ghi, Tullio

    2016-12-01

    To evaluate the effect of fetal sex on singleton pregnancy growth charts customized for parental characteristics, race, and parity Methods: In a multicentric cross-sectional study, 8070 ultrasonographic examinations from low-risk singleton pregnancies between 16 and 40 weeks of gestation were considered. The fetal measurements obtained were biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC), and femur length (FL). Quantile regression was used to examine the impact of fetal sex across the biometric percentiles of the fetal measurements considered together with parents' height, weight, parity, and race. Fetal gender resulted to be a significant covariate for BDP, HC, and AC with higher values for male fetuses (p ≤ 0.0009). Minimal differences were found among sexes for FL. Parity, maternal race, paternal height and maternal height, and weight resulted significantly related to the fetal biometric parameters considered independently from fetal gender. In this study, we constructed customized biometric growth charts for fetal sex, parental, and obstetrical characteristics using quantile regression. The use of gender-specific charts offers the advantage to define individualized normal ranges of fetal biometric parameters at each specific centile. This approach may improve the antenatal identification of abnormal fetal growth.

  17. Prenatal Alcohol Exposure and Miscarriage, Stillbirth, Preterm Delivery, and Sudden Infant Death Syndrome

    OpenAIRE

    Bailey, Beth A.; Sokol, Robert J.

    2011-01-01

    In addition to fetal alcohol syndrome and fetal alcohol spectrum disorders, prenatal alcohol exposure is associated with many other adverse pregnancy and birth outcomes. Research suggests that alcohol use during pregnancy may increase the risk of miscarriage, stillbirth, preterm delivery, and sudden infant death syndrome. This research has some inherent difficulties, such as the collection of accurate information about alcohol consumption during pregnancy and controlling for comorbid exposure...

  18. Fetal MRI; Fetales MRT

    Energy Technology Data Exchange (ETDEWEB)

    Blondin, D. [Inst. fuer Diagn. Radiologie, Uniklinikum Duesseldorf (Germany); Turowski, B. [Inst. fuer Diagn. Radiologie, Neuroradiologie, Uniklinikum Duesseldorf (Germany); Schaper, J. [Inst. fuer Diagn. Radiologie, Kinderradiologie, Uniklinikum Duesseldorf (Germany)

    2007-02-15

    Ultrasonography is the method of choice for prenatal malformation screening, but it does not always provide sufficient information for correct diagnosis or adequate abnormality evaluation. Fetal MRI is increasingly being used to complete sonographic findings. It was initially used for evaluation of cerebral abnormalities but is increasingly being applied to other fetal areas. In vivo investigation of fetal brain maturation has been enhanced by MRI. An adequate analysis of fetal chest and abdomen can be achieved with fast T2-, T1-weighted and diffusion-weighted imaging (DWI). The advantages include the great field of view and the excellent soft tissue contrast. This allows correct diagnosis of congenital diaphragmatic hernia and evaluation of the consequences on pulmonary growth. Other pulmonary malformations, such as cystic adenomatoid malformation, sequestration and brochogenic cysts, can also be easily identified. Renal position can be quickly determined using DWI sequences and renal agenesia can be easily diagnosed with only one sequence. Prenatal MRI is virtually as effective as postnatal examination, dispenses with transport of a potentially very ill newborn, and provides logistic advantages. Therefore, prenatal MRI is useful for adequate postnatal treatment of newborns with malformations. (orig.)

  19. Cushing's syndrome in pregnancy.

    Science.gov (United States)

    Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

    2015-02-01

    Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation.

  20. Prenatal ultrasound and fetal MRI: the comparative value of each modality in prenatal diagnosis.

    Science.gov (United States)

    Pugash, Denise; Brugger, Peter C; Bettelheim, Dieter; Prayer, Daniela

    2008-11-01

    Fetal MRI is used with increasing frequency as an adjunct to ultrasound (US) in prenatal diagnosis. In this review, we discuss the relative value of both prenatal US and MRI in evaluating fetal and extra-fetal structures for a variety of clinical indications. Advantages and disadvantages of each imaging modality are addressed. In summary, MRI has advantages in demonstrating pathology of the brain, lungs, complex syndromes, and conditions associated with reduction of amniotic fluid. At present, US is the imaging method of choice during the first trimester, and in the diagnosis of cardiovascular abnormalities, as well as for screening. In some conditions, such as late gestational age, increased maternal body mass index, skeletal dysplasia, and metabolic disease, neither imaging method may provide sufficient diagnostic information.

  1. Prenatal ultrasound and fetal MRI: The comparative value of each modality in prenatal diagnosis

    International Nuclear Information System (INIS)

    Pugash, Denise; Brugger, Peter C.; Bettelheim, Dieter; Prayer, Daniela

    2008-01-01

    Fetal MRI is used with increasing frequency as an adjunct to ultrasound (US) in prenatal diagnosis. In this review, we discuss the relative value of both prenatal US and MRI in evaluating fetal and extra-fetal structures for a variety of clinical indications. Advantages and disadvantages of each imaging modality are addressed. In summary, MRI has advantages in demonstrating pathology of the brain, lungs, complex syndromes, and conditions associated with reduction of amniotic fluid. At present, US is the imaging method of choice during the first trimester, and in the diagnosis of cardiovascular abnormalities, as well as for screening. In some conditions, such as late gestational age, increased maternal body mass index, skeletal dysplasia, and metabolic disease, neither imaging method may provide sufficient diagnostic information

  2. Prenatal ultrasound and fetal MRI: The comparative value of each modality in prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Pugash, Denise [Department of Radiology, University of British Columbia, Vancouver (Canada)], E-mail: dpugash@cw.bc.ca; Brugger, Peter C. [Integrative Morphology Group, Centre of Anatomy and Cell Biology, Medical University of Vienna, Waehringerstrasse 13, 1090 Vienna (Austria); Bettelheim, Dieter [University Clinics of Obstetrics and Gynaecology, Medical University of Vienna, Waehringerguertel 18-20, 1090 Wien (Austria); Prayer, Daniela [University Clinics of Radiodiagnostics, Medical University of Vienna, Waehringerguertel 18-20, 1090 Wien (Austria)

    2008-11-15

    Fetal MRI is used with increasing frequency as an adjunct to ultrasound (US) in prenatal diagnosis. In this review, we discuss the relative value of both prenatal US and MRI in evaluating fetal and extra-fetal structures for a variety of clinical indications. Advantages and disadvantages of each imaging modality are addressed. In summary, MRI has advantages in demonstrating pathology of the brain, lungs, complex syndromes, and conditions associated with reduction of amniotic fluid. At present, US is the imaging method of choice during the first trimester, and in the diagnosis of cardiovascular abnormalities, as well as for screening. In some conditions, such as late gestational age, increased maternal body mass index, skeletal dysplasia, and metabolic disease, neither imaging method may provide sufficient diagnostic information.

  3. Increasing fetal ovine number per gestation alters fetal plasma clinical chemistry values.

    Science.gov (United States)

    Zywicki, Micaela; Blohowiak, Sharon E; Magness, Ronald R; Segar, Jeffrey L; Kling, Pamela J

    2016-08-01

    Intrauterine growth restriction (IUGR) is interconnected with developmental programming of lifelong pathophysiology. IUGR is seen in human multifetal pregnancies, with stepwise rises in fetal numbers interfering with placental nutrient delivery. It remains unknown whether fetal blood analyses would reflect fetal nutrition, liver, and excretory function in the last trimester of human or ovine IUGR In an ovine model, we hypothesized that fetal plasma biochemical values would reflect progressive placental, fetal liver, and fetal kidney dysfunction as the number of fetuses per gestation rose. To determine fetal plasma biochemical values in singleton, twin, triplet, and quadruplet/quintuplet ovine gestation, we investigated morphometric measures and comprehensive metabolic panels with nutritional measures, liver enzymes, and placental and fetal kidney excretory measures at gestational day (GD) 130 (90% gestation). As anticipated, placental dysfunction was supported by a stepwise fall in fetal weight, fetal plasma glucose, and triglyceride levels as fetal number per ewe rose. Fetal glucose and triglycerides were directly related to fetal weight. Plasma creatinine, reflecting fetal renal excretory function, and plasma cholesterol, reflecting placental excretory function, were inversely correlated with fetal weight. Progressive biochemical disturbances and growth restriction accompanied the rise in fetal number. Understanding the compensatory and adaptive responses of growth-restricted fetuses at the biochemical level may help explain how metabolic pathways in growth restriction can be predetermined at birth. This physiological understanding is important for clinical care and generating interventional strategies to prevent altered developmental programming in multifetal gestation. © 2016 The Authors. Physiological Reports published by Wiley Periodicals, Inc. on behalf of the American Physiological Society and The Physiological Society.

  4. Fetal alcohol syndrome, chemo-biology and OMICS: ethanol effects on vitamin metabolism during neurodevelopment as measured by systems biology analysis.

    Science.gov (United States)

    Feltes, Bruno César; de Faria Poloni, Joice; Nunes, Itamar José Guimarães; Bonatto, Diego

    2014-06-01

    Fetal alcohol syndrome (FAS) is a prenatal disease characterized by fetal morphological and neurological abnormalities originating from exposure to alcohol. Although FAS is a well-described pathology, the molecular mechanisms underlying its progression are virtually unknown. Moreover, alcohol abuse can affect vitamin metabolism and absorption, although how alcohol impairs such biochemical pathways remains to be elucidated. We employed a variety of systems chemo-biology tools to understand the interplay between ethanol metabolism and vitamins during mouse neurodevelopment. For this purpose, we designed interactomes and employed transcriptomic data analysis approaches to study the neural tissue of Mus musculus exposed to ethanol prenatally and postnatally, simulating conditions that could lead to FAS development at different life stages. Our results showed that FAS can promote early changes in neurotransmitter release and glutamate equilibrium, as well as an abnormal calcium influx that can lead to neuroinflammation and impaired neurodifferentiation, both extensively connected with vitamin action and metabolism. Genes related to retinoic acid, niacin, vitamin D, and folate metabolism were underexpressed during neurodevelopment and appear to contribute to neuroinflammation progression and impaired synapsis. Our results also indicate that genes coding for tubulin, tubulin-associated proteins, synapse plasticity proteins, and proteins related to neurodifferentiation are extensively affected by ethanol exposure. Finally, we developed a molecular model of how ethanol can affect vitamin metabolism and impair neurodevelopment.

  5. Can postmortem fetal MR imaging replace autopsy?

    International Nuclear Information System (INIS)

    Cho, Jeong Yeon; Song, Mi Jin; Kim, Seoung Hyup

    2001-01-01

    The purposes of this study were to compare postmortem fetal MRI findings with autopsy findings and to assess whether postmortem MRI can replace autopsy. The study group consisted of 13 stillborn fetuses, seven that died immediately after birth, and five terminated because of anomalies seen on prenatal sonograms. A total 17 were male, and eight were female, and their gestational ages were from 20 to 41 (average;28.2) weeks. Spin-echo T1-and T2-weighted axial, sagittal, and coronal MR images were obtained, and autopsy findings were divided into major and minor. A major finding was defined as an anomaly or syndrome which caused fetal death or termination of the pregnancy: minor findings were classified, on the basis of gross inspection, as internal or external. MR images were retrospectively analyzed by two radiologists unaware of the autopsy findings, and by comparison with these, the postmortem MRI detection rates for major and minor findings was then determined. In seven of 25 fetuses, MR imaging revealed major findings, a dietction rate of 100%. There were two cases of anencephaly, two of trisomy-18, and one each of hydrops fetalis with large cystic hygroma, diaphragmatic hernia, and Dandy-Walker malformation. Twenty-three of 60 minor findings (38.3%) were detected by MRI. The detection rates for external and internal findings were 29.6%(8/27) and 45.5%(15/33), respectively. Although a limitation of our study is the low detection rate for minor findings, postmortem fetal MRI may help diagnose the major cause of fetal death

  6. Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly.

    Science.gov (United States)

    Takikawa, Keiko Miyachi; Kikuchi, Akihiko; Yokoyama, Akiko; Ono, Kyoko; Iwasawa, Yuki; Sunagawa, Sorahiro; Takagi, Kimiyo; Kawame, Hiroshi; Nakamura, Tomohiko

    2008-01-01

    Seckel syndrome is a rare form of primordial dwarfism and most of the previous reports have been limited to postnatal findings. We report on a fetus showing severe microcephaly, intrauterine growth restriction and a few gyri with shallow sulci on the fetal brain suggesting cortical dysplasia, followed by ultrasound and magnetic resonance imaging in the prenatal period. Cardiotocograph revealed a reassuring fetal status throughout the whole pregnancy period. A male infant weighing 1,556 g was delivered at 39 weeks' gestation, and a diagnosis of Seckel syndrome was made based on postnatal typical findings. Although previous reports on prenatal findings of Seckel syndrome are quite limited, we think that our case presents typical features of a fetus affected by this syndrome. When prenatal ultrasound shows severe microcephaly and intrauterine growth restriction, this rare syndrome should be included in the differential diagnosis. Moreover, magnetic resonance imaging of the affected fetal brain provides further diagnostic clues. Copyright 2008 S. Karger AG, Basel.

  7. New polyamides based on 1,3-bis(4-carboxy phenoxy propane and hydantoin derivatives: synthesis and properties

    Directory of Open Access Journals (Sweden)

    Khalil Faghihi

    2010-04-01

    Full Text Available Six new polyamides 5a-f containing flexible trimethylene segments in the main chain were synthesized through the direct polycondensation reaction of 1,3-bis(4-carboxy phenoxy propane 3 with six derivatives of hydantoins 5a-f in a medium consisting of N-methyl-2-pyrrolidone, triphenyl phosphite, calcium chloride and pyridine. The polycondensation reaction produced a series of novel polyamides in high yield with inherent viscosities between 0.30-0.47 dL/g. The resulted polymers were fully characterized by means of FT-IR, 1H-NMR spectroscopy, elemental analyses, inherent viscosity, solubility tests and gel permeation chromatography (GPC. Thermal properties of these polymers were investigated by using thermal gravimetric analysis (TGA and differential thermal gravimetry (DTG. The glass-transition temperatures of these polyamides were recorded between 130 and 155 oC by differential scanning calorimetry (DSC, and the 5% weight loss temperatures were ranging from 325 to 415 oC under nitrogen. 1,3-bis(4-Carboxy phenoxy propane 3 was prepared from the reaction of 4-hydroxy benzoic acid 1 with 1,3-dibromo propane 2 in the presence of NaOH solution.

  8. The effects of Fetal Surgery on Retinopathy of Prematurity Development

    Directory of Open Access Journals (Sweden)

    Sudha Nallasamy

    2009-01-01

    Full Text Available Background Fetal surgery is selectively offered for severe or life-threatening fetal malformations. These infants are often born prematurely and are thus at risk for retinopathy of prematurity (ROP. It is not known whether fetal surgery confers an increased risk of developing severe ROP relative to published rates in standard premature populations ≤37 weeks of age grouped by birth weight (<1500 grams or ≥1500 grams. Design This is a retrospective chart review. Methods We reviewed the charts of 137 patients who underwent open fetal/fetoscopic surgery from 1996–2004. Surgical indications included twin-twin transfusion syndrome (TTTS, myelomeningocele (MMC, congenital diaphragmatic hernia (CDH, sacrococcygeal teratoma (SCT, cystic adenomatoid malformation of the lung (CCAM, and twin reversed arterial perfusion sequence (TRAP. Of these, 17 patients had local ROP examination data. Binomial tests were performed to assess whether rates of ROP in our fetal/fetoscopic surgery cohort were significantly different from published rates. Results There were 5 patients each with an underlying diagnosis of TTTS and MMC, 2 patients each with CDH and TRAP, and 1 patient each with SCT, CCAM, and mediastinal teratoma. The mean gestational age at surgery was 23 4 / 7 ± 2 3 / 7 weeks, mean gestational age at birth was 30 ± 2 5 / 7 weeks, and mean birth weight was 1449 ± 510 grams (610–2485. Compared to published rates of ROP and threshold ROP, our fetal surgery patients had significantly higher rates of ROP and threshold ROP in both the <1500 grams and the ≥1500 grams group (all p-values <0.05. Conclusions Fetal/fetoscopic surgery appears to significantly increase the rate of ROP and threshold ROP development. Greater numbers are needed to confirm these observations.

  9. Diffusion-weighted magnetic resonance imaging with apparent diffusion coefficient (ADC) determination in normal and pathological fetal kidneys.

    Science.gov (United States)

    Chaumoitre, K; Colavolpe, N; Shojai, R; Sarran, A; D' Ercole, C; Panuel, M

    2007-01-01

    To assess the use of diffusion-weighted magnetic resonance imaging (DW-MRI) in the evaluation of the fetal kidney and to estimate age-dependent changes in the apparent diffusion coefficient (ADC) of normal and pathological fetal kidneys. DW-MRI was performed on a 1.5-T machine at 23-38 gestational weeks in 51 pregnant women in whom the fetal kidneys were normal and in 10 whose fetuses had renal pathology (three with suspected nephropathy, three with renal tract dilatation, one with unilateral renal venous thrombosis, and three with twin-twin transfusion syndrome (TTTS)). The ADC was measured in an approximately 1-cm2 region of interest within the renal parenchyma. ADC values in normal renal parenchyma ranged from 1.1 to 1.8 10(-3) mm2 s-1. There was no significant age-dependent change in the ADC of normal kidneys. In cases of nephropathy, the ADC value was not always pathological but an ADC map could show abnormal findings. In cases of dilatation, the ADC value was difficult to determine when the dilatation was huge. In cases of TTTS, the ADC of the donor twin was higher than that of the recipient twin and the difference seemed to be related to the severity of the syndrome. Evaluation of the ADC for fetal kidneys is feasible. Fetal measurement of the ADC value and ADC maps may be useful tools with which to explore the fetal kidney when used in conjunction with current methods. DW-MR images, ADC value and ADC map seem to be useful in cases of suspected nephropathy (hyperechoic kidneys), dilated kidney and vascular pathology (renal venous thrombosis, TTTS). Copyright (c) 2006 ISUOG.

  10. Syndromes and Disorders Associated with Omphalocele (III: Single Gene Disorders, Neural Tube Defects, Diaphragmatic Defects and Others

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-06-01

    Full Text Available Omphalocele can be associated with single gene disorders, neural tube defects, diaphragmatic defects, fetal valproate syndrome, and syndromes of unknown etiology. This article provides a comprehensive review of omphalocele-related disorders: otopalatodigital syndrome type II; Melnick–Needles syndrome; Rieger syndrome; neural tube defects; Meckel syndrome; Shprintzen–Goldberg omphalocele syndrome; lethal omphalocele-cleft palate syndrome; cerebro-costo-mandibular syndrome; fetal valproate syndrome; Marshall–Smith syndrome; fibrochondrogenesis; hydrolethalus syndrome; Fryns syndrome; omphalocele, diaphragmatic defects, radial anomalies and various internal malformations; diaphragmatic defects, limb deficiencies and ossification defects of skull; Donnai–Barrow syndrome; CHARGE syndrome; Goltz syndrome; Carpenter syndrome; Toriello–Carey syndrome; familial omphalocele; Cornelia de Lange syndrome; C syndrome; Elejalde syndrome; Malpuech syndrome; cervical ribs, Sprengel anomaly, anal atresia and urethral obstruction; hydrocephalus with associated malformations; Kennerknecht syndrome; lymphedema, atrial septal defect and facial changes; and craniosynostosis- mental retardation syndrome of Lin and Gettig. Perinatal identification of omphalocele should alert one to the possibility of omphalocele-related disorders and familial inheritance and prompt a thorough genetic counseling for these disorders.

  11. Fetal thrombocytopenia in pregnancies with fetal human parvovirus-B19 infection.

    Science.gov (United States)

    Melamed, Nir; Whittle, Wendy; Kelly, Edmond N; Windrim, Rory; Seaward, P Gareth R; Keunen, Johannes; Keating, Sarah; Ryan, Greg

    2015-06-01

    Fetal infection with human parvovirus B19 (hParvo-B19) has been associated mainly with fetal anemia, although data regarding other fetal hematologic effects are limited. Our aim was to assess the rate and consequences of severe fetal thrombocytopenia after fetal hParvo-B19 infection. We conducted a retrospective study of pregnancies that were complicated by fetal hParvo-B19 infection that underwent fetal blood sampling (FBS). The characteristics and outcomes of fetuses with severe thrombocytopenia (B19 infection. A total of 37 pregnancies that were affected by fetal hParvo-B19 infection were identified. Of the 29 cases that underwent FBS and had information regarding fetal platelets, 11 cases (38%) were complicated by severe fetal thrombocytopenia. Severely thrombocytopenic fetuses were characterized by a lower hemoglobin concentration (2.6 ± 0.9 g/dL vs 5.5 ± 3.6 g/dL; P = .01), lower reticulocyte count (9.1% ± 2.8% vs 17.3% ± 10.6%; P = .02), and lower gestational age at the time of diagnosis (21.4 ± 3.1 wk vs 23.6 ± 2.2 wk; P = .03). Both the fetal death rate within 48 hours of FBS (27.3% vs 0%; P = .02) and the risk of prematurity (100.0% vs 13.3%; P B19 infection, can be further worsened by IUT, and may be associated with an increased risk of procedure-related fetal loss after either FBS or IUT. Copyright © 2015. Published by Elsevier Inc.

  12. Thyroid hormone stimulation of phosphatidylcholine synthesis in cultured fetal rabbit lung.

    OpenAIRE

    Ballard, P L; Hovey, M L; Gonzales, L K

    1984-01-01

    To investigate the mechanism of thyroid hormone action on pulmonary surfactant synthesis, we characterized the effect of triiodothyronine on phosphatidylcholine synthesis in cultured fetal rabbit lung. Since glucocorticoids stimulate surfactant synthesis and reduce the incidence of Respiratory Distress Syndrome in premature infants, we also examined the interaction of triiodothyronine and dexamethasone. The rate of choline incorporation into phosphatidylcholine was determined in organ culture...

  13. Caudal regression syndrome : a case report

    International Nuclear Information System (INIS)

    Lee, Eun Joo; Kim, Hi Hye; Kim, Hyung Sik; Park, So Young; Han, Hye Young; Lee, Kwang Hun

    1998-01-01

    Caudal regression syndrome is a rare congenital anomaly, which results from a developmental failure of the caudal mesoderm during the fetal period. We present a case of caudal regression syndrome composed of a spectrum of anomalies including sirenomelia, dysplasia of the lower lumbar vertebrae, sacrum, coccyx and pelvic bones,genitourinary and anorectal anomalies, and dysplasia of the lung, as seen during infantography and MR imaging

  14. Caudal regression syndrome : a case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Eun Joo; Kim, Hi Hye; Kim, Hyung Sik; Park, So Young; Han, Hye Young; Lee, Kwang Hun [Chungang Gil Hospital, Incheon (Korea, Republic of)

    1998-07-01

    Caudal regression syndrome is a rare congenital anomaly, which results from a developmental failure of the caudal mesoderm during the fetal period. We present a case of caudal regression syndrome composed of a spectrum of anomalies including sirenomelia, dysplasia of the lower lumbar vertebrae, sacrum, coccyx and pelvic bones,genitourinary and anorectal anomalies, and dysplasia of the lung, as seen during infantography and MR imaging.

  15. Quality assessment in prospective nuchal translucency screening for Down syndrome

    DEFF Research Database (Denmark)

    Wøjdemann, K R; Christiansen, M; Sundberg, K

    2001-01-01

    OBJECTIVES: To develop and apply a quality control system in a Down syndrome screening study using nuchal translucency as an interventional marker. METHODS: In a prospective Down syndrome screening study fetal nuchal translucency thickness was measured in 9236 of the 10 045 examined pregnancies...

  16. 'A problem shared is a problem halved': success of a statewide collaborative approach to fetal therapy. Outcomes of fetoscopic laser photocoagulation for twin-twin transfusion syndrome in Victoria.

    Science.gov (United States)

    Teoh, Mark; Walker, Sue; Cole, Stephen; Edwards, Andrew

    2013-04-01

    To evaluate the performance of a collaborative fetal therapy service for treatment for twin-twin transfusion syndrome (TTTS). The Victorian Fetal Therapy Service (VFTS) was developed in 2006. It is a state-based three-centre collaborative service comprising a surgical team and clinical leadership group, designed to optimise access to, and performance of, fetoscopic procedures in Victoria. This is a prospective cohort study of VFTS patients referred for fetoscopic laser photocoagulation (FLP) for TTTS since 2006. Forty-nine consecutive women with advanced (stage 2-4) TTTS between 2006 and 2011 were included in this study. Overall survival was 67 of 98 (68%), and survival of ≥1 twin was seen in 42 of 49 pregnancies (86%). There was no difference in survival by disease stage at diagnosis (≥1 survivor: 66% (stage 2 or 3 TTTS) vs 77% (stage 4 TTTS), P = 0.44), nor by surgical era (≥1 survivor: 60% (2006-2008) vs 74% of cases (2009-2011), P = 0.21). The median gestation gained post-FLP was 10.5 weeks. These results are consistent with published series and confirm the success of a novel service delivery model for fetal therapy in Victoria. We suggest that collaborative models such as ours should be considered for fetal conditions where treatment is complex and the total number of cases is small to ensure a consistent approach to assessment, management and follow-up of patients and to optimise training and research opportunities. © 2013 The Authors ANZJOG © 2013 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  17. Average fetal depth in utero: data for estimation of fetal absorbed radiation dose

    International Nuclear Information System (INIS)

    Ragozzino, M.W.; Breckle, R.; Hill, L.M.; Gray, J.E.

    1986-01-01

    To estimate fetal absorbed dose from radiographic examinations, the depth from the anterior maternal surface to the midline of the fetal skull and abdomen was measured by ultrasound in 97 pregnant women. The relationships between fetal depth, fetal presentation, and maternal parameters of height, weight, anteroposterior (AP) thickness, gestational age, placental location, and bladder volume were analyzed. Maternal AP thickness (MAP) can be estimated from gestational age, maternal height, and maternal weight. Fetal midskull and abdominal depths were nearly equal. Fetal depth normalized to MAP was independent or nearly independent of maternal parameters and fetal presentation. These data enable a reasonable estimation of absorbed dose to fetal brain, abdomen, and whole body

  18. Fetal inflammation associated with minimal acute morbidity in moderate/late preterm infants.

    Science.gov (United States)

    Gisslen, Tate; Alvarez, Manuel; Wells, Casey; Soo, Man-Ting; Lambers, Donna S; Knox, Christine L; Meinzen-Derr, Jareen K; Chougnet, Claire A; Jobe, Alan H; Kallapur, Suhas G

    2016-03-23

    To determine whether exposure to acute chorioamnionitis and fetal inflammation caused short-term adverse outcomes. This is a prospective observational study: subjects were mothers delivering at 32-36 weeks gestation and their preterm infants at a large urban tertiary level III perinatal unit (N=477 infants). Placentae and fetal membranes were scored for acute histological chorioamnionitis based on the Redline criteria. Fetal inflammation was characterised by histological diagnosis of funisitis (umbilical cord inflammation), increased cord blood cytokines measured by ELISA, and activation of the inflammatory cells infiltrating the placenta and fetal membranes measured by immunohistology. Maternal and infant data were collected. Twenty-four per cent of 32-36-week infants were exposed to histological chorioamnionitis and 6.9% had funisitis. Immunostaining for leucocyte subsets showed selective infiltration of the placenta and fetal membranes with activated neutrophils and macrophages with chorioamnionitis. Interleukin (IL) 6, IL-8 and granulocyte colony-stimulating factor were selectively increased in the cord blood of preterm infants with funisitis. Compared with infants without chorioamnionitis, funisitis was associated with increased ventilation support during resuscitation (43.8% vs 15.4%) and more respiratory distress syndrome postnatally (27.3% vs 10.2%) in univariate analysis. However, these associations disappeared after adjusting for prematurity. Despite fetal exposure to funisitis, increased cord blood cytokines and activated placental inflammatory cells, we could not demonstrate neonatal morbidity specifically attributable to fetal inflammation after adjusting for gestational age in moderate and late preterm infants. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  19. Altered Decorin and Smad Expression in Human Fetal Membranes in PPROM1

    Science.gov (United States)

    Horgan, Casie E.; Roumimper, Hailey; Tucker, Richard; Lechner, Beatrice E.

    2014-01-01

    ABSTRACT Humans with Ehlers-Danlos syndrome, a subtype of which is caused by abnormal decorin expression, are at increased risk of preterm birth due to preterm premature rupture of fetal membranes (PPROM). In the mouse model, the absence of decorin leads to fetal membrane abnormalities, preterm birth, and dysregulation of decorin's downstream pathway components, including the transcription factor p-Smad-2. However, the role of decorin and p-Smad-2 in idiopathic human PPROM is unknown. Fetal membranes from 20–25 pregnancies per group were obtained as a cross-sectional sample of births at one institution between January 2010 and December 2012. The groups were term, preterm without PPROM, and preterm with PPROM. Immunohistochemical analysis of fetal membranes was performed for decorin and p-Smad-2 using localization and quantification assessment. Decorin expression is developmentally regulated in fetal membranes and is decreased in preterm birth with PPROM compared to preterm birth without PPROM. In preterm with PPROM samples, the presence of infection is associated with significant decorin downregulation compared to preterm with PPROM samples without infection. The preterm with PPROM group exhibited decreased p-Smad-2 staining compared to both the term controls and the preterm-without-PPROM group. Our findings suggest that dysregulation of decorin and its downstream pathway component p-Smad-2 occurs in fetal membranes during the second trimester in pathological pregnancies, thus supporting a role for decorin and p-Smad-2 in the pathophysiology of fetal membranes and adverse pregnancy outcomes. These findings may lead to the discovery of new targets for the diagnosis and treatment of PPROM. PMID:25232019

  20. Structure, reactivity, and biological properties of hidantoines

    International Nuclear Information System (INIS)

    Oliveira, Silvania Maria de; Silva, Joao Bosco Paraiso da; Hernandes, Marcelo Zaldini; Lima, Maria do Carmo Alves de; Galdino, Suely Lins; Pitta, Ivan da Rocha

    2008-01-01

    Hydantoin (imidazolidine-2,4-dione) is a 2,4-diketotetrahydroimidazole discovered by Baeyer in 1861. Thiohydantoins and derivatives were prepared, having chemical properties similar to the corresponding carbonyl compounds. Some biological activities (antimicrobial, anticonvulsant, schistosomicidal) are attributed to the chemical reactivity and consequent affinity of hydantoinic rings towards biomacromolecules. Therefore, knowledge about the chemistry of hydantoins has increased enormously. In this review, we present important aspects such as reactivity of hydantoins, acidity of hydantoins, spectroscopy and crystallographic properties, and biological activities of hydantoin and its derivatives. (author)

  1. Structure, reactivity, and biological properties of hidantoines; Estrutura, reatividade e propriedades biologicas de hidantoinas

    Energy Technology Data Exchange (ETDEWEB)

    Oliveira, Silvania Maria de; Silva, Joao Bosco Paraiso da [Universidade Federal de Pernambuco (UFPE), Recife, PE (Brazil). Dept. de Quimica Fundamental]. E-mail: paraiso@ufpe.br; Hernandes, Marcelo Zaldini [Universidade Federal de Pernambuco (UFPE), Recife, PE (Brazil). Dept. de Ciencias Farmaceuticas; Lima, Maria do Carmo Alves de; Galdino, Suely Lins; Pitta, Ivan da Rocha [Universidade Federal de Pernambuco (UFPE), Recife, PE (Brazil). Dept. de Antibioticos

    2008-07-01

    Hydantoin (imidazolidine-2,4-dione) is a 2,4-diketotetrahydroimidazole discovered by Baeyer in 1861. Thiohydantoins and derivatives were prepared, having chemical properties similar to the corresponding carbonyl compounds. Some biological activities (antimicrobial, anticonvulsant, schistosomicidal) are attributed to the chemical reactivity and consequent affinity of hydantoinic rings towards biomacromolecules. Therefore, knowledge about the chemistry of hydantoins has increased enormously. In this review, we present important aspects such as reactivity of hydantoins, acidity of hydantoins, spectroscopy and crystallographic properties, and biological activities of hydantoin and its derivatives. (author)

  2. Fetal behavioral teratology.

    Science.gov (United States)

    Visser, Gerard H A; Mulder, Eduard J H; Tessa Ververs, F F

    2010-10-01

    Ultrasound studies of fetal motor behavior provide direct – in vivo – insight in the functioning of the motor component of the fetal central nervous system. In this article, studies are reviewed showing changes in the first timetable of appearance of fetal movements, changes in quality and/or quantity of movements and disturbances in the development of fetal behavioral states in case of endogenous malfunctions, maternal diseases and exogenous behavioral teratogens.

  3. Shared effects of genetic and intrauterine and perinatal environment on the development of metabolic syndrome.

    Directory of Open Access Journals (Sweden)

    Patricia M Vuguin

    Full Text Available Genetic and environmental factors, including the in utero environment, contribute to Metabolic Syndrome. Exposure to high fat diet exposure in utero and lactation increases incidence of Metabolic Syndrome in offspring. Using GLUT4 heterozygous (G4+/- mice, genetically predisposed to Type 2 Diabetes Mellitus, and wild-type littermates we demonstrate genotype specific differences to high fat in utero and lactation. High fat in utero and lactation increased adiposity and impaired insulin and glucose tolerance in both genotypes. High fat wild type offspring had increased serum glucose and PAI-1 levels and decreased adiponectin at 6 wks of age compared to control wild type. High fat G4+/- offspring had increased systolic blood pressure at 13 wks of age compared to all other groups. Potential fetal origins of adult Metabolic Syndrome were investigated. Regardless of genotype, high fat in utero decreased fetal weight and crown rump length at embryonic day 18.5 compared to control. Hepatic expression of genes involved in glycolysis, gluconeogenesis, oxidative stress and inflammation were increased with high fat in utero. Fetal serum glucose levels were decreased in high fat G4+/- compared to high fat wild type fetuses. High fat G4+/-, but not high fat wild type fetuses, had increased levels of serum cytokines (IFN-γ, MCP-1, RANTES and M-CSF compared to control. This data demonstrates that high fat during pregnancy and lactation increases Metabolic Syndrome male offspring and that heterozygous deletion of GLUT4 augments susceptibility to increased systolic blood pressure. Fetal adaptations to high fat in utero that may predispose to Metabolic Syndrome in adulthood include changes in fetal hepatic gene expression and alterations in circulating cytokines. These results suggest that the interaction between in utero-perinatal environment and genotype plays a critical role in the developmental origin of health and disease.

  4. Victims of Chinese famine in early life have increased risk of metabolic syndrome in adulthood.

    Science.gov (United States)

    Yu, Caizheng; Wang, Jing; Wang, Fei; Han, Xu; Hu, Hua; Yuan, Jing; Miao, Xiaoping; Yao, Ping; Wei, Sheng; Wang, Youjie; Liang, Yuan; Zhang, Xiaomin; Guo, Huan; Pan, An; Zheng, Dan; Tang, Yuhan; Yang, Handong; Wu, Tangchun; He, Meian

    2018-02-05

    To investigate the association of exposure to the Chinese famine during early life with metabolic syndrome risk in adults. There were 7,915 participants from Dongfeng-Tongji cohort were included in the present study. Participants were classified as non-exposed group, fetal exposed group, early childhood-, mid childhood-, and late childhood-exposed groups, respectively. Metabolic syndrome was defined according to International Diabetes Foundation criteria (2005). Logistic regression model was used to explore the association between famine exposure in early life and metabolic syndrome risk in adults. The metabolic syndrome prevalence in non-, fetal-, early childhood-, mid childhood-, and late childhood- exposed groups were 25.2%, 26.9%, 30.3%, 32.7%, and 32.7%, respectively. Compared with non-exposed group, participants exposed to famine in the fetal (0.96, 95% CI: 0.77-1.20), early childhood (1.24, 95% CI: 1.01-1.52), mid childhood (1.39, 95% CI: 1.13-1.72), and late childhood (1.33, 95% CI: 1.08-1.63) had higher metabolic syndrome prevalence risk in adults after adjustment for potential confounders (P for trend metabolic syndrome prevalence risk than non-exposed women (P for trend metabolic syndrome prevalence risk (P for interaction = 0.0001). Results in the present study indicated that exposure to famine in early life increases the risk of metabolic syndrome in adulthood, particularly in women. Copyright © 2018 Elsevier Inc. All rights reserved.

  5. Increased ventricular preload is compensated by myocyte proliferation in normal and hypoplastic fetal chick left ventricle

    Czech Academy of Sciences Publication Activity Database

    Dealmeida, A.; McQuinn, T. C.; Sedmera, David

    2007-01-01

    Roč. 100, - (2007), s. 1363-1370 ISSN 0009-7330 Institutional research plan: CEZ:AV0Z50450515 Keywords : chick embryo * hemodynamics * fetal surgery * hypoplastic left heart syndrome Subject RIV: FA - Cardiovascular Disease s incl. Cardiotharic Surgery Impact factor: 9.721, year: 2007

  6. Fetal echocardiography

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/007340.htm Fetal echocardiography To use the sharing features on this page, please enable JavaScript. Fetal echocardiography is a test that uses sound waves ( ultrasound ) ...

  7. Fetal electrocardiogram (ECG) for fetal monitoring during labour.

    Science.gov (United States)

    Neilson, James P

    2015-12-21

    Hypoxaemia during labour can alter the shape of the fetal electrocardiogram (ECG) waveform, notably the relation of the PR to RR intervals, and elevation or depression of the ST segment. Technical systems have therefore been developed to monitor the fetal ECG during labour as an adjunct to continuous electronic fetal heart rate monitoring with the aim of improving fetal outcome and minimising unnecessary obstetric interference. To compare the effects of analysis of fetal ECG waveforms during labour with alternative methods of fetal monitoring. The Cochrane Pregnancy and Childbirth Group's Trials Register (latest search 23 September 2015) and reference lists of retrieved studies. Randomised trials comparing fetal ECG waveform analysis with alternative methods of fetal monitoring during labour. One review author independently assessed trials for inclusion and risk of bias, extracted data and checked them for accuracy. One review author assessed the quality of the evidence using the GRADE approach. Seven trials (27,403 women) were included: six trials of ST waveform analysis (26,446 women) and one trial of PR interval analysis (957 women). The trials were generally at low risk of bias for most domains and the quality of evidence for ST waveform analysis trials was graded moderate to high. In comparison to continuous electronic fetal heart rate monitoring alone, the use of adjunctive ST waveform analysis made no obvious difference to primary outcomes: births by caesarean section (risk ratio (RR) 1.02, 95% confidence interval (CI) 0.96 to 1.08; six trials, 26,446 women; high quality evidence); the number of babies with severe metabolic acidosis at birth (cord arterial pH less than 7.05 and base deficit greater than 12 mmol/L) (average RR 0.72, 95% CI 0.43 to 1.20; six trials, 25,682 babies; moderate quality evidence); or babies with neonatal encephalopathy (RR 0.61, 95% CI 0.30 to 1.22; six trials, 26,410 babies; high quality evidence). There were, however, on average

  8. Evaluating the Agreement of Risk Categorization for Fetal Down Syndrome Screening between Ultrasound-Based Gestational Age and Menstrual-Based Gestational Age by Maternal Serum Markers.

    Science.gov (United States)

    Chaksuwat, Pakorn; Sirichotiyakul, Supatra; Luewan, Suchaya; Tongsong, Theera

    2018-01-01

    To evaluate the agreement of risk categorization for Down syndrome screening between ultrasound scan-based gestational age (GA) and last menstrual period-based gestational age in both first and second trimesters by maternal serum markers. Data comprising 4,055 and 4,016 cases of first and second trimester screening were used. The maternal serum markers were analyzed using the ultrasound-based GA and menstrual age. The subjects whose menstrual age and ultrasound-based GA fell in different trimesters were excluded because the risk could not be calculated due to the different serum markers used in each trimester. The agreement of risk categorization for fetal Down syndrome was evaluated. The agreement of Down syndrome screening in the first and the second trimesters were 92.7% and 89%, respectively. The study found a good agreement of risk categorization by Kappa index, which was 0.615 for the overall screening. The menstrual age had a slight decrease in the detection rate and a lower false-positive rate. Menstrual age is acceptable in cases of accurate last menstrual period. However, in places where ultrasonography is not readily available, gestational age estimation by menstrual age along with clinical examination that corresponds to the gestational age can be reliable.

  9. Pulmonary Hypoplasia Caused by Fetal Ascites in Congenital Cytomegalovirus Infection Despite Fetal Therapy

    Directory of Open Access Journals (Sweden)

    Kazumichi Fujioka

    2017-11-01

    Full Text Available We report two cases of pulmonary hypoplasia due to fetal ascites in symptomatic congenital cytomegalovirus (CMV infections despite fetal therapy. The patients died soon after birth. The pathogenesis of pulmonary hypoplasia in our cases might be thoracic compression due to massive fetal ascites as a result of liver insufficiency. Despite aggressive fetal treatment, including multiple immunoglobulin administration, which was supposed to diminish the pathogenic effects of CMV either by neutralization or immunomodulatory effects, the fetal ascites was uncontrollable. To prevent development of pulmonary hypoplasia in symptomatic congenital CMV infections, further fetal intervention to reduce ascites should be considered.

  10. Fetal scalp pH testing

    Science.gov (United States)

    Fetal scalp blood; Scalp pH testing; Fetal blood testing - scalp; Fetal distress - fetal scalp testing; Labor - fetal scalp testing ... a baby. In these cases, testing the scalp pH can help the doctor decide whether the fetus ...

  11. Body Stalk Syndrome: A Curiosity

    Directory of Open Access Journals (Sweden)

    Anita Javalgi

    2014-07-01

    Full Text Available Limb body wall complex (LBWC /Body stalk syndrome anomaly refers to a rare complicated polymalformative fetal malformation syndrome of uncertain etiology firstly described by Van Allen et al in 1987. There are very few cases reported in literature and thus we report a rare case of LBWC. Twenty seven years female presented to labour room with 32 weeks of gestation with no prenatal care and delivered a low birth weight still born fetus weighing 1100gms. On fetal autopsy large abdominal wall defect was noted with difficulty in identifying abdomino-pelvic organs and ambiguous genitalia. Placenta weighed 250gms with attached short umbilical cord measuring 7cms, arising from periphery. A cyst noted attached to placental membrane measuring 9x5cms which on dissection retrieved partially maldeveloped organs. Post mortem radiological findings included Absence of right femur with short tibia and right fibula, Complex vestibral malformation, Craniosynostosis and Overcrowding of ribs.

  12. [Incidence of fetal macrosomia: maternal and fetal morbidity].

    Science.gov (United States)

    Rodríguez-Rojas, R R; Cantú-Esquivel, M G; Benavides-de la Garza, L; Benavides-de Anda, L

    1996-06-01

    The macrosomia is an obstetric eventuality associated to high maternal-fetal morbidity-mortality. This assay was planned in order to know the incidence of macrosomia in our institution, the relation between vaginal and abdominal deliveries and the fetal-maternal morbidity we reviewed 3590 records and we found 5.6% incidence of macrosomia in the global obstetric population. There was 58% of vaginal deliveries, 68% of the newborn were male. The main complications were in the C. sections, 2 laceration of the hysterectomy, and 2 peroperative atonias. In the vaginal deliveries, the lacerations of III and IV grade were 9 of each grade. The main fetal complications were 5 slight to severe asphyxia and 4 shoulder dystocias. This assay concludes that the macrosomia in our service is similar to the already published ones, a 42% were C. section and the maternal-fetal morbidity was low.

  13. The use of non-invasive fetal electrocardiography in diagnosing second-degree fetal atrioventricular block.

    Science.gov (United States)

    Lakhno, Igor; Behar, Joachim A; Oster, Julien; Shulgin, Vyacheslav; Ostras, Oleksii; Andreotti, Fernando

    2017-01-01

    Complete atrioventricular block in fetuses is known to be mostly associated with autoimmune disease and can be irreversible if no steroids treatment is provided. Conventional methods used in clinical practice for diagnosing fetal arrhythmia are limited since they do not reflect the primary electrophysiological conduction processes that take place in the myocardium. The non-invasive fetal electrocardiogram has the potential to better support fetal arrhythmias diagnosis through the continuous analysis of the beat to beat variation of the fetal heart rate and morphological analysis of the PQRST complex. We present two retrospective case reports on which atrioventricular block diagnosis could have been supported by the non-invasive fetal electrocardiogram. The two cases comprised a 22-year-old pregnant woman with the gestational age of 31 weeks and a 25-year-old pregnant woman with the gestational age of 41 weeks. Both women were admitted to the Department of Maternal and Fetal Medicine at the Kyiv and Kharkiv municipal perinatal clinics. Patients were observed using standard fetal monitoring methods as well as the non-invasive fetal electrocardiogram. The non-invasive fetal electrocardiographic recordings were analyzed retrospectively, where it is possible to identify the presence of the atrioventricular block. This study demonstrates, for the first time, the feasibility of the non-invasive fetal electrocardiogram as a supplementary method to diagnose of the fetal atrioventricular block. Combined with current fetal monitoring techniques, non-invasive fetal electrocardiography could support clinical decisions.

  14. Fetal magnetic resonance imaging: methods and techniques; Fetale Magnetresonanztomographie: Methoden und Technik

    Energy Technology Data Exchange (ETDEWEB)

    Brugger, P.C. [Zentrum fuer Anatomie und Zellbiologie, Medizinische Universitaet Wien (Austria). Arbeitsgruppe Integrative Morphologie; Stuhr, F.; Lindner, C.; Prayer, D. [Medizinische Universitaet Wien (Austria). Klinik fuer Radiodiagnostik

    2006-02-15

    Since the introduction of fetal magnetic resonance imaging (MRI) into prenatal diagnostics, advances in coil technology and development of ultrafast sequences have further enhanced this technique. At present numerous sequences are available to visualize the whole fetus with high resolution and image quality, even in late stages of pregnancy. Taking into consideration the special circumstances of examination and adjusting sequence parameters to gestational age, fetal anatomy can be accurately depicted. The variety of sequences also allows further characterization of fetal tissues and pathologies. Fetal MRI not only supplies additional information to routine ultrasound studies, but also reveals fetal morphology and pathology in a way hitherto not possible. (orig.) [German] Seit Einfuehrung der fetalen Magnetresonanztomographie (MRT) in die praenatale Diagnostik wurde das Verfahren durch neue Spulentechniken und die Entwicklung ultraschneller Sequenzen kontinuierlich weiter entwickelt. Gegenwaertig steht eine Vielzahl von Sequenzen zur Verfuegung, die es erlauben, mit hoher Bildqualitaet und raeumlicher Aufloesung selbst in fortgeschrittenen Schwangerschaftsstadien den gesamten Feten darzustellen. Unter Beruecksichtigung der speziellen Untersuchungsbedingungen und des Schwangerschaftsalters kann so die fetale Anatomie genau abgebildet werden. Die Vielfalt an Sequenzen und deren gezielter Einsatz ermoeglichen es weiter, fetale Gewebe und Pathologien naeher zu charakterisierten. Auf diese Weise liefert die fetale MRT nicht nur Zusatzinformationen zur Routineultraschalluntersuchung, sie gibt auch Aufschluss ueber bestimmte fetale Morphologien und Pathologien, die bisher nicht darstellbar waren. (orig.)

  15. Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

    Science.gov (United States)

    Myers, Angela; Bernstein, Jonathan A; Brennan, Marie-Luise; Curry, Cynthia; Esplin, Edward D; Fisher, Jamie; Homeyer, Margaret; Manning, Melanie A; Muller, Eric A; Niemi, Anna-Kaisa; Seaver, Laurie H; Hintz, Susan R; Hudgins, Louanne

    2014-11-01

    The RASopathies are a family of developmental disorders caused by heritable defects of the RAS/MAPK signaling pathway. While the postnatal presentation of this group of disorders is well known, the prenatal and neonatal findings are less widely recognized. We report on the perinatal presentation of 10 patients with Noonan syndrome (NS), nine with Cardiofaciocutaneous syndrome (CFCS) and three with Costello syndrome (CS), in conjunction with the results of a comprehensive literature review. The majority of perinatal findings in NS, CS, and CFCS are shared: polyhydramnios; prematurity; lymphatic dysplasia; macrosomia; relative macrocephaly; respiratory distress; hypotonia, as well as cardiac and renal anomalies. In contrast, fetal arrhythmia and neonatal hypoglycemia are relatively specific to CS. NS, CS, and CFCS should all be considered as a possible diagnosis in pregnancies with a normal karyotype and ultrasound findings of a RASopathy. Recognition of the common perinatal findings of these disorders should facilitate both their prenatal and neonatal diagnosis. © 2014 Wiley Periodicals, Inc.

  16. Fetal Alcohol Syndrome (FAS) in C57BL/6 Mice Detected through Proteomics Screening of the Amniotic Fluid

    Science.gov (United States)

    Datta, Susmita; Turner, Delano; Singh, Reetu; Ruest, L. Bruno; Pierce, William M.; Knudsen, Thomas B.

    2009-01-01

    BACKGROUND Fetal Alcohol Syndrome (FAS), a severe consequence of the Fetal Alcohol Spectrum Disorders, is associated with craniofacial defects, mental retardation, and stunted growth. Previous studies in C57BL/6J and C57BL/6N mice provide evidence that alcohol-induced pathogenesis follows early changes in gene expression within specific molecular pathways in the embryonic headfold. Whereas the former (B6J) pregnancies carry a high-risk for dysmorphogenesis following maternal exposure to 2.9 g/kg alcohol (two injections spaced 4.0 h apart on gestation day 8), the latter (B6N) pregnancies carry a low-risk for malformations. The present study used this murine model to screen amniotic fluid for biomarkers that could potentially discriminate between FAS-positive and FAS-negative pregnancies. METHODS B6J and B6N litters were treated with alcohol (exposed) or saline (control) on day 8 of gestation. Amniotic fluid aspirated on day 17 (n = 6 replicate litters per group) was subjected to trypsin digestion for analysis by matrix-assisted laser desorption–time of flight mass spectrometry with the aid of denoising algorithms, statistical testing, and classification methods. RESULTS We identified several peaks in the proteomics screen that were reduced consistently and specifically in exposed B6J litters. Preliminary characterization by liquid chromatography tandem mass spectrometry and multidimensional protein identification mapped the reduced peaks to alpha fetoprotein (AFP). The predictive strength of AFP deficiency as a biomarker for FAS-positive litters was confirmed by area under the receiver operating characteristic curve. CONCLUSIONS These findings in genetically susceptible mice support clinical observations in maternal serum that implicate a decrease in AFP levels following prenatal alcohol damage. PMID:18240165

  17. Histologic Changes Associated With Placental Separation in Gilts Infected with Porcine Reproductive and Respiratory Syndrome Virus.

    Science.gov (United States)

    Novakovic, Predrag; Detmer, Susan E; Suleman, Muhammad; Malgarin, Carol M; MacPhee, Daniel J; Harding, John C S

    2018-07-01

    The placenta is a vital organ providing the developing fetus with nutrient and gas exchange, thermoregulation, and waste elimination necessary for fetal development, as well as producing hormones to maintain pregnancy. It is hypothesized that fetal pig death in porcine reproductive and respiratory syndrome may be attributed to pathology of the maternal-fetal interface leading to premature placental separation. This study was designed to evaluate the chronologic progression of porcine reproductive and respiratory syndrome virus (PRRSV)-induced lesions at the maternal-fetal interface, with particular focus on placental separation in experimentally challenged third-trimester gilts. Fifteen gilts were inoculated with a virulent strain of PRRSV-2 on gestation day 86 ± 0.4. On multiple days postinoculation, 3 gilts along with 1 sham-inoculated control per time point were euthanized, and uterine and fetal placental tissues corresponding to each fetus were collected for histopathologic evaluation. The presence of any fetal lesion was 23 times more likely in compromised (meconium-stained and decomposed) compared with viable fetuses ( P < .001). In PRRSV-infected gilts, endometritis was more severe than placentitis, and the severity of endometrial inflammation and vasculitis increased progressively from 2 to 14 days postinoculation. Neither placental vasculitis nor a chronologic progression in the severity of placental detachment was observed. Severe placental detachment was more frequently present in PRRSV-infected compared with noninfected samples and was most significantly associated with placental inflammation, compared with other uterine lesions, viral load, or termination day. The results of this study suggest that placental separation by itself is not sufficient to significantly compromise fetal viability in reproductive porcine reproductive and respiratory syndrome.

  18. [Coffin-Siris syndrome. Critical study of the literature apropos of a case].

    Science.gov (United States)

    Foasso, M F; Hermier, M; Descos, B; Collet, J P; Perron, F

    1983-03-01

    The authors report a case of the Coffin Siris syndrome which associates a ungueo-digital syndrome (special by the bilateral aplasia or severe hypoplasia of nails and third phalanx of fifth toes and fingers) to other anomalies: facies with thinly fine hairs contrasting with bushy and dense eyebrows and body hypertrichosis, hypotonia and mental retardation. The connections of the Coffin Siris syndrome with the trisomy 9 p+ syndrome and the fetal hydantoïn syndrome are discussed.

  19. Early vitrectomy effective for bilateral combined anterior and posterior persistent fetal vasculature syndrome.

    Science.gov (United States)

    Walsh, Mark K; Drenser, Kimberly A; Capone, Antonio; Trese, Michael T

    2010-04-01

    The purpose of this study was to review our surgical experience with patients with bilateral combined anterior and posterior persistent fetal vasculature syndrome (PFVS). We retrospectively reviewed the charts of all patients seen in our tertiary care pediatric retinal practice from 1988 to 2008 with a potential diagnosis of bilateral PFVS with posterior involvement. Clinical diagnosis required the presence of either bilateral persistent hyaloidal stalk tissue with retinal involvement or bilateral dense retrolental fibrovascular plaques (usually with no posterior view preoperatively) without a family history or genetic testing consistent with Norrie disease or familial exudative vitreoretinopathy. Chart review showed 22 vitrectomized patients with clinical findings consistent with bilateral PFVS with posterior involvement who did not have a family history or genetic testing consistent with Norrie disease or familial exudative vitreoretinopathy. All 22 of these patients with posterior retinal involvement also had anterior findings and thus can be classified as combined anterior and posterior PFVS. Of the 13 patients with visual acuity follow-up data, 9 patients (69%) maintained at least light perception vision in at least 1 eye at last follow-up. Of the 28 operated eyes in 16 patients with follow-up data, 3 eyes (11%) were phthisical at last follow-up. Children with bilateral PFVS with posterior retinal involvement have a dismal visual prognosis if left unoperated. In this relatively large series of a rare condition, we find that vitrectomy with or without lensectomy is beneficial in bilateral combined anterior and posterior PFVS in two regards: maintenance or restoration of vision and avoidance of phthisis bulbi.

  20. A noninvasive method for the prediction of fetal hemolytic disease

    Directory of Open Access Journals (Sweden)

    E. N. Kravchenko

    2017-01-01

    Full Text Available Objective: to improve the diagnosis of fetal hemolytic disease.Subjects and methods. A study group consisted of 42 pregnant women whose newborn infants had varying degrees of hemolytic disease. The women were divided into 3 subgroups according to the severity of neonatal hemolytic disease: 1 pregnant women whose neonates were born with severe hemolytic disease (n = 14; 2 those who gave birth to babies with moderate hemolytic disease (n = 11; 3 those who delivered infants with mild hemolytic disease (n = 17. A comparison group included 42 pregnant women whose babies were born without signs of hemolytic disease. Curvesfor blood flow velocity in the middle cerebral artery were analyzed in a fetus of 25 to 39 weeks’ gestation.Results. The peak systolic blood flow velocity was observed in Subgroup 1; however, the indicator did not exceed 1.5 MoM even in severe fetal anemic syndrome. The fetal middle artery blood flow velocity rating scale was divided into 2 zones: 1 the boundary values of peak systolic blood flow velocity from the median to the obtained midscore; 2 the boundary values of peak systolic blood flow velocity of the obtained values of as high as 1.5 MoM.Conclusion. The value of peak systolic blood flow velocity being in Zone 2, or its dynamic changes by transiting to this zone can serve as a prognostic factor in the development of severe fetal hemolytic disease. 

  1. Pregnancy and Antiphospholipid Syndrome

    DEFF Research Database (Denmark)

    Schreiber, Karen; Hunt, Beverley J

    2016-01-01

    Antiphospholipid syndrome (APS) is classified as the association of thrombotic events and/or obstetric morbidity in patients persistently positive for antiphospholipid antibodies (aPL). APS is also the most frequently acquired risk factor for a treatable cause of recurrent pregnancy loss and incr......Antiphospholipid syndrome (APS) is classified as the association of thrombotic events and/or obstetric morbidity in patients persistently positive for antiphospholipid antibodies (aPL). APS is also the most frequently acquired risk factor for a treatable cause of recurrent pregnancy loss...... and increases the risk of conditions associated with ischemic placental dysfunction, such as stillbirth, intrauterine death, preeclampsia, premature birth, and fetal growth restriction. The use of low-dose aspirin and heparin has improved the pregnancy outcome in obstetric APS and approximately 70% of pregnant...... women with APS will deliver a viable live infant. However, current management does not prevent all maternal, fetal, and neonatal complications of APS and the current treatment fails in 20 to 30% of APS pregnancies, raising the need to explore other treatments to improve obstetrical outcome. Two clinical...

  2. Fetal cardiology

    International Nuclear Information System (INIS)

    Meijboom, E.J.; Rijsterborgh, N.; Bom, N.

    1986-01-01

    Doppler echocardiography makes it possible to diagnose congenital heart disease in early pregnancy. It allows us to study the anatomical configuration of the fetal heart, and additionally, to evaluate the physiological conditions of the fetus. Evaluation of the direction, velocity, wave form pattern, and quantification of blood flow at the various sites in the fetal heart helps us to assess the characteristics of the fetal circulation and condition of the fetal heart. In order to use this technique in pathological situations, an initial study of the developing normal human fetal circulation was necessary. The authors studied 34 uncomplicated pregnancies by serial Doppler echocardiography. The studies were performed every 4 weeks from 16-weeks gestation to term. The pulsed Doppler sector scanner provided cardiac cross-sectional images, mitral and tricuspid blood velocities were obtained from apical four-chamber views. Angle corrected maximal and mean temporal velocities were calculated by digitizing the Doppler frequency shift recording on a graphic tablet computed with a minicomputer. The angle between the Doppler interrogation beam and the direction of blood flow was kept as small as possible in order to minimize the error

  3. Screening for fetal chromosome abnormalities during the second trimester

    International Nuclear Information System (INIS)

    Dong Hui; Li Ming; Li Ping

    2005-01-01

    Objective: To develop a pre -natal screening program for fetal chromosome abnormalities based on risk values calculated from maternal serum markers levels during the second trimester. Methods: Serum levels of AFP, β-HCG, uE 3 were determined with CLIA in 1048 pregnant women during 14-21w gestation period and the results were analyzed with a specific software (screening program for Down' s syndrome developed by Beckman) for the risk rate. In those women defined as being of high risk rate, cells from amniotic fluid or umbilical cord blood were studied for karyotype analysis. Results: Of these 1048 women, 77 were designated as being of high risk rate for several chromosome abnormalities i.e. Down's syndrome, open spina bifida and trisomy -18 syndrome (overall positive rate 7.3%). Further fetal chromosome study in 31 of them revealed three proven cases of abnormality. Another cord blood study was performed in a calculated low risk rate case but with abnormal sonographic finding at 31 w gestation and proved to be abnormal (software study false negative). The remaining 46 high risk rate cases either refused future study (n=35) or were lost for follow-up (n=11). Fortunately, all the 35 women refused further study gave birth to normal babies without any chromosome abnormalities discovered on peripheral blood study. Besides, in a trial study, five high risk rate women were again evaluated a few weeks later but with tremendous difference between the results. Conclusion: The present program proves to be clinically useful but needs further study and revision. Many factors may influence the result of the analysis and the duration of gestation period in weeks should be as accurate as possible. At present, in order to avoid getting false negatives, we don't advise a second check in 'high risk' cases. (authors)

  4. Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes.

    Science.gov (United States)

    Filges, Isabel; Friedman, Jan M

    2015-10-01

    Massively parallel sequencing has revolutionized our understanding of Mendelian disorders, and many novel genes have been discovered to cause disease phenotypes when mutant. At the same time, next-generation sequencing approaches have enabled non-invasive prenatal testing of free fetal DNA in maternal blood. However, little attention has been paid to using whole exome and genome sequencing strategies for gene identification in fetal disorders that are lethal in utero, because they can appear to be sporadic and Mendelian inheritance may be missed. We present challenges and advantages of applying next-generation sequencing approaches to gene discovery in fetal malformation phenotypes and review recent successful discovery approaches. We discuss the implication and significance of recessive inheritance and cross-species phenotyping in fetal lethal conditions. Whole exome sequencing can be used in individual families with undiagnosed lethal congenital anomaly syndromes to discover causal mutations, provided that prior to data analysis, the fetal phenotype can be correlated to a particular developmental pathway in embryogenesis. Cross-species phenotyping allows providing further evidence for causality of discovered variants in genes involved in those extremely rare phenotypes and will increase our knowledge about normal and abnormal human developmental processes. Ultimately, families will benefit from the option of early prenatal diagnosis. © 2014 John Wiley & Sons, Ltd.

  5. [Maternal-placental interactions and fetal programming].

    Science.gov (United States)

    Kadyrov, M; Moser, G; Rath, W; Kweider, N; Wruck, C J; Pufe, T; Huppertz, B

    2013-06-01

    Pregnancy-related complications not only represent a risk for maternal and fetal morbidity and mortality, but are also a risk for several diseases later in life. Many epidemiological studies have shown clear associations between an adverse intrauterine environment and an increased risk of diabetes, hypertension, cardiovascular disease, depression, obesity, and other chronic diseases in the adult. Some of these syndromes could be prevented by avoiding adverse stimuli or insults including psychological stress during pregnancy, intake of drugs, insufficient diet and substandard working conditions. Hence, all of these stimuli have the potential to alter health later in life. The placenta plays a key role in regulating the nutrient supply to the fetus and producing hormones that control the fetal as well as the maternal metabolism. Thus, any factor or stimulus that alters the function of the hormone producing placental trophoblast will provoke critical alterations of placental function and hence could induce programming of the fetus. The factors that change placental development may interfere with nutrient and oxygen supply to the fetus. This may be achieved by a direct disturbance of the placental barrier or more indirectly by, e. g., disturbing trophoblast invasion. For both path-ways, the respective pathologies are known: while preeclampsia is caused by alterations of the villous trophoblast, intra-uterine growth restriction is caused by insufficient invasion of the extravillous trophoblast. In both cases the effect can be undernutrition and/or fetal hypoxia, both of which adversely affect organ development, especially of brain and heart. However, the mechanisms responsible for disturbances of trophoblast differentiation and function remain elusive. © Georg Thieme Verlag KG Stuttgart · New York.

  6. Human fetal anatomy: MR imaging.

    Science.gov (United States)

    Weinreb, J C; Lowe, T; Cohen, J M; Kutler, M

    1985-12-01

    Twenty-four pregnant women carrying 26 fetuses (two sets of twins) were imaged with magnetic resonance (MR) imaging at 0.35 T following sonographic evaluation. Each study was retrospectively evaluated to determine which of 33 normal fetal structures were visible on the images and which imaging parameters were most useful for depicting fetal anatomy. Fetal motion degraded fetal images in all but two cases, both with oligohydramnios and in the third trimester of gestation. Nevertheless, many fetal structures were identifiable, particularly in the third trimester. Visualization of fetal anatomy improved with intravenous maternal sedation in five cases. Relatively T1-weighted images occasionally offered the advantage of less image degradation owing to fetal motion and improved contrast between different fetal structures. More T2 weighting was believed to be advantageous in one case for outlining the fetal head and in one case for delineation of the brain. In many cases, structures were similarly identifiable (though with different signal intensities) regardless of the parameters selected. The authors conclude that MR imaging of many fetal structures is currently unsatisfactory and is probably of limited value, particularly in the first and second trimesters. However, the relative frequency and detail with which the fetal head and liver can be depicted indicate that these may be areas for further investigation, and the potential utility of imaging fetal fat warrants further investigation.

  7. Hippocampal neuron populations are reduced in vervet monkeys with fetal alcohol exposure

    DEFF Research Database (Denmark)

    Burke, Mark W; Ptito, Maurice; Ervin, Frank R

    2015-01-01

    of pregnancy. Here, we report significant numerical reductions in the principal hippocampal neurons of fetal alcohol-exposed (FAE) offspring, as compared to age-matched, similarly housed conspecifics with isocaloric sucrose exposure. These deficits, particularly marked in CA1 and CA3, are present neonatally......Prenatal exposure to beverage alcohol is a major cause of mild mental retardation and developmental delay. In nonendangered alcohol-preferring vervet monkeys, we modeled the most common nondysmorphic form of fetal alcohol syndrome disorder with voluntary drinking during the third trimester...... and persist through infancy (5 months) and juvenile (2 years) stages. Although the volumes of hippocampal subdivisions in FAE animals are not atypical at birth, by age 2, they are only 65-70% of those estimated in age-matched controls. These data suggest that moderate, naturalistic alcohol consumption during...

  8. Fetal MSCs

    Indian Academy of Sciences (India)

    First page Back Continue Last page Overview Graphics. Derived from extra embryonic tissues (amniotic fluid, placenta, cord blood, Wharton's Jelly) and fetal tissues (aborted fetuses). Derived from extra embryonic tissues (amniotic fluid, placenta, cord blood, Wharton's Jelly) and fetal tissues (aborted fetuses). In comparison ...

  9. Fetal growth disorders in twin gestations.

    LENUS (Irish Health Repository)

    Breathnach, Fionnuala M

    2012-06-01

    Twin growth is frequently mismatched. This review serves to explore the pathophysiologic mechanisms that underlie growth aberrations in twin gestations, the prenatal recognition of abnormal twin growth, and the critical importance of stratifying management of abnormal twin growth by chorionicity. Although poor in utero growth of both twins may reflect maternal factors resulting in global uteroplacental dysfunction, discordant twin growth may be attributed to differences in genetic potential between co-twins, placental dysfunction confined to one placenta only, or one placental territory within a shared placenta. In addition, twin-twin transfusion syndrome represents a distinct entity of which discordant growth is a common feature. Discordant growth is recognized as an independent risk factor for adverse perinatal outcome. Intertwin birth weight disparity of 18% or more should be considered to represent a discordance threshold, which serves as an independent risk factor for adverse perinatal outcome. At this cutoff, perinatal morbidity is found to increase both for the larger and the smaller twin within a discordant pair. There remains uncertainty surrounding the sonographic parameters that are most predictive of discordance. Although heightening of fetal surveillance in the face of discordant twin growth follows the principles applied to singleton gestations complicated by fetal growth restriction, the timing of intervention is largely influenced by chorionicity.

  10. Fetal abdominal magnetic resonance imaging

    International Nuclear Information System (INIS)

    Brugger, Peter C.; Prayer, Daniela

    2006-01-01

    This review deals with the in vivo magnetic resonance imaging (MRI) appearance of the human fetal abdomen. Imaging findings are correlated with current knowledge of human fetal anatomy and physiology, which are crucial to understand and interpret fetal abdominal MRI scans. As fetal MRI covers a period of more than 20 weeks, which is characterized not only by organ growth, but also by changes and maturation of organ function, a different MR appearance of the fetal abdomen results. This not only applies to the fetal intestines, but also to the fetal liver, spleen, and adrenal glands. Choosing the appropriate sequences, various aspects of age-related and organ-specific function can be visualized with fetal MRI, as these are mirrored by changes in signal intensities. Knowledge of normal development is essential to delineate normal from pathological findings in the respective developmental stages

  11. Fetal abdominal magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Brugger, Peter C. [Center of Anatomy and Cell Biology, Integrative Morphology Group, Medical University of Vienna, Waehringerstrasse 13, 1090 Vienna (Austria)]. E-mail: peter.brugger@meduniwien.ac.at; Prayer, Daniela [Department of Radiology, Medical University of Vienna, Waehringerguertel 18-20, 1090 Vienna (Austria)

    2006-02-15

    This review deals with the in vivo magnetic resonance imaging (MRI) appearance of the human fetal abdomen. Imaging findings are correlated with current knowledge of human fetal anatomy and physiology, which are crucial to understand and interpret fetal abdominal MRI scans. As fetal MRI covers a period of more than 20 weeks, which is characterized not only by organ growth, but also by changes and maturation of organ function, a different MR appearance of the fetal abdomen results. This not only applies to the fetal intestines, but also to the fetal liver, spleen, and adrenal glands. Choosing the appropriate sequences, various aspects of age-related and organ-specific function can be visualized with fetal MRI, as these are mirrored by changes in signal intensities. Knowledge of normal development is essential to delineate normal from pathological findings in the respective developmental stages.

  12. Fetal tachycardia : diagnosis and treatment

    NARCIS (Netherlands)

    Oudijk, Martijn Alexander

    2003-01-01

    Part I: Fetal tachyarrhythmias Diagnosis Fetal tachycardia is a serious condition warranting specialized evaluation. In chapter 2, methods of diagnosis of fetal tachycardia are described, including doppler and M-mode echocardiography and fetal magnetocardiography. The study presented in chapter 3

  13. Fetal short time variation during labor: a non-invasive alternative to fetal scalp pH measurements?

    Science.gov (United States)

    Schiermeier, Sven; Reinhard, Joscha; Hatzmann, Hendrike; Zimmermann, Ralf C; Westhof, Gregor

    2009-01-01

    To determine whether short time variation (STV) of fetal heart beat correlates with scalp pH measurements during labor. From 1279 deliveries, 197 women had at least one fetal scalp pH measurement. Using the CTG-Player, STVs were calculated from the electronically saved cardiotocography (CTG) traces and related to the fetal scalp pH measurements. There was no correlation between STV and fetal scalp pH measurements (r=-0.0592). Fetal STV is an important parameter with high sensitivity for antenatal fetal acidosis. This study shows that STV calculations do not correlate with fetal scalp pH measurements during labor, hence are not helpful in identifying fetal acidosis.

  14. The relationship between maternal and fetal vitamin D, insulin resistance, and fetal growth.

    LENUS (Irish Health Repository)

    Walsh, Jennifer M

    2013-05-01

    Evidence for a role of vitamin D in maintaining normal glucose homeostasis is inconclusive. We sought to clarify the relationship between maternal and fetal insulin resistance and vitamin D status. This is a prospective cohort study of 60 caucasian pregnant women. Concentrations of 25-hydroxyvitamin D (25-OHD), glucose, insulin, and leptin were measured in early pregnancy and at 28 weeks. Ultrasound at 34 weeks assessed fetal anthropometry including abdominal wall width, a marker of fetal adiposity. At delivery birth weight was recorded and fetal 25-OHD, glucose, C-peptide, and leptin measured in cord blood. Insulin resistance was calculated using the Homeostasis Model Assessment (HOMA) equation. We found that those with lower 25-OHD in early pregnancy had higher HOMA indices at 28 weeks, (r = -.32, P = .02). No significant relationship existed between maternal or fetal leptin and 25-OHD, or between maternal or fetal 25-OHD and fetal anthropometry or birth weight. The incidence of vitamin D deficiency was high at each time point (15%-45%). These findings lend support to routine antenatal supplementation with vitamin D in at risk populations.

  15. Fetal Echocardiography and Indications

    Directory of Open Access Journals (Sweden)

    Melih Atahan Güven

    2008-09-01

    Full Text Available Congenital heart diseases are encountered in 0.8% of live births and are among the most frequently diagnosed malformations. At least half of these anomalies end up with death or require surgical interventions and are responsible for 30% of the perinatal mortality. Fetal echocardiography is the sum of knowledge, skill and orientation rather than knowing the embryologic details of the fetal heart. The purpose of fetal echocardiography is to document the presence of normal fetal cardiac anatomy and rhythm in high risk group and to define the anomaly and arrhythmia if present. A certain sequence should be followed during the evaluation of fetal heart. Sequential segmental analysis (SSA and basic definition terminology made it possible to determine a lot of complex cardiac anomalies during prenatal period. By the end of 1970’s, Shinebourne started using sequential segmental analysis for fetal cardiac evaluation and today, prenatal diagnosis of congenital heart disease is possible without any confusion. In this manner, whole fetal heart can be evaluated as the relation of three segments (atria, ventricles and the great arteries with each other, irrelevant of complexity of a possible cardiac anomaly. Presence of increased nuchal thickness during early gestation and abnormal four-chamber-view during ultrasonography by the obstetrician presents a clear indication for fetal echocardiography,however, one should keep in mind that 80-90% of the babies born with a congenital heart disease do not have a familial or maternal risk factor. In addition, it should be remembered that expectant mothers with diabetes mellitus pose an indication for fetal echocardiography.

  16. Value of amniocentesis versus fetal tissue for cytogenetic analysis in cases of fetal demise.

    Science.gov (United States)

    Bryant Borders, Ann E; Greenberg, Jessica; Plaga, Stacey; Shepard-Hinton, Megan; Yates, Carin; Elias, Sherman; Shulman, Lee P

    2009-01-01

    Use of fetal tissue for cytogenetic analysis in cases of second- and third-trimester fetal demise frequently results in unacceptably high failure rates. We reviewed our ongoing use of amniocentesis prior to uterine evacuation to determine if this provided a better source of cells for cytogenetic analysis. We compared cytogenetic results using fetal tissues obtained following uterine evacuation to our ongoing use of amniotic fluid cell obtained by transabdominal amniocentesis prior to uterine evacuation from 2003 to 2008. In 49 of the 63 cases evaluated by fetal tissue biopsies performed after uterine evacuation, a karyotypic analysis was obtained (77.8%). Among the 38 cases evaluated by amniocentesis, an amniotic fluid sample and fetal cytogenetic results were obtained in all 38 (100%) cases. Our findings indicate that amniocentesis is a more reliable source of cytogenetic information than fetal tissue in cases of second- and third-trimester fetal demise.

  17. A favorable outcome following 32 vesicocentesis and amnioinfusion procedures in a fetus with severe prune belly syndrome.

    Science.gov (United States)

    Galati, Vincenzo; Beeson, James H; Confer, Stephen D; Frimberger, Dominic; Campbell, Jeffrey B; Ramji, Faridali G; Kropp, Bradley P

    2008-04-01

    Patients with severe prune belly syndrome rarely survive beyond the first days of life. We present a case of prune belly syndrome that initially presented with severe oligohydramnios, megacystis and associated poor urine biochemistries. Due to an anteriorly located placenta the patient was referred to three major centers, but was turned down because of the unfavorable prognostic findings. Therefore, fetal intervention was performed with 32 vesicocentesis and amnioinfusion procedures. Despite the unfavorable prenatal findings, and having undergone numerous fetal interventions, the birth resulted in a viable infant.

  18. Clinical implications from monitoring fetal activity.

    Science.gov (United States)

    Rayburn, W F

    1982-12-15

    The monitoring of fetal motion in high-risk pregnancies has been shown to be worthwhile in predicting fetal distress and impending fetal death. The maternal recording of perceived fetal activity is an inexpensive surveillance technique which is most useful when there is chronic uteroplacental insufficiency or when a stillbirth may be expected. The presence of an active, vigorous fetus is reassuring, but documented fetal inactivity required a reassessment of the underlying antepartum complication and further fetal evaluation with real-time ultrasonography, fetal heart rate testing, and biochemical testing. Fetal distress from such acute changes as abruptio placentae or umbilical cord compression may not be predicted by monitoring fetal motion. Although not used for routine clinical investigation, electromechanical devices such as tocodynamometry have provided much insight into fetal behavioral patterns at many stages of pregnancy and in pregnancies with an antepartum complication.

  19. Oral Rehabilitation for Amniotic Band Syndrome: An Unusual Presentation.

    Science.gov (United States)

    Hotwani, Kavita; Sharma, Krishna

    2015-01-01

    Amniotic band syndrome (ABS) is a congenital disorder caused by entrapment of fetal parts in fibrous amniotic bands while in utero. The syndrome is underdiagnosed and its presentation is variable. The syndrome has been well described in the pediatric, orthopedic and obstetric literature; however, despite the discernable craniomaxillofacial involvement, ABS has not been reported in the dental literature very often. The present report describes a case of a patient with ABS and concomitant dental findings. How to cite this article: Hotwani K, Sharma K. Oral Rehabilitation for Amniotic Band Syndrome: An Unusual Presentation. Int J Clin Pediatr Dent 2015;8(1):55-57.

  20. A prospective clinical trial to compare the performance of dried blood spots prenatal screening for Down's syndrome with conventional non-invasive testing technology.

    Science.gov (United States)

    Hu, Huiying; Jiang, Yulin; Zhang, Minghui; Liu, Shanying; Hao, Na; Zhou, Jing; Liu, Juntao; Zhang, Xiaojin; Ma, Liangkun

    2017-03-01

    To evaluate, side by side, the efficiency of dried blood spots (DBSs) against serum screening for Down's syndrome, and then, to construct a two-tier strategy by topping up the fetal cell-free DNA (cfDNA) secondary screening over the high-risk women marked by the primary blood testing to build a practical screening tactic to identify fetal Down's syndrome. One thousand eight hundred and thirty-seven low-risk Chinese women, with singleton pregnancy, were enrolled for the study. Alpha-fetoprotein and free beta human chorionic gonadotropin were measured for the serum as well as for the parallel DBS samples. Partial high-risk pregnant women identified by primary blood testing (n = 38) were also subject to the secondary cfDNA screening. Diagnostic amniocentesis was utilized to confirm the screening results. The true positive rate for Down's syndrome detection was 100% for both blood screening methods; however, the false-positive rate was 3.0% for DBS and 4.0% for serum screening, respectively. DBS correlated well with serum screening on Down's syndrome detection. Three out of 38 primary high-risk women displayed chromosomal abnormalities by cfDNA analysis, which were confirmed by amniocentesis. Either the true detection rate or the false-positive rate for Down's syndrome between DBS and the serum test is comparable. In addition, blood primary screening aligned with secondary cfDNA analysis, a "before and after" two-tier screening strategy, can massively decrease the false-positive rate, which, then, dramatically reduces the demand for invasive diagnostic operation. Impact statement Children born with Down's syndrome display a wide range of mental and physical disability. Currently, there is no effective treatment to ease the burden and anxiety of the Down's syndrome family and the surrounding society. This study is to evaluate the efficiency of dried blood spots against serum screening for Down's syndrome and to construct a two-tier strategy by topping up the fetal

  1. Antenatal Bartter Syndrome: A Review

    Directory of Open Access Journals (Sweden)

    Y. Ramesh Bhat

    2012-01-01

    Full Text Available Antenatal Bartter syndrome (ABS is a rare autosomal recessive renal tubular disorder. The defective chloride transport in the loop of Henle leads to fetal polyuria resulting in severe hydramnios and premature delivery. Early onset, unexplained maternal polyhydramnios often challenges the treating obstetrician. Increasing polyhydramnios without apparent fetal or placental abnormalities should lead to the suspicion of this entity. Biochemical analysis of amniotic fluid is suggested as elevated chloride level is usually diagnostic. Awareness, early recognition, maternal treatment with indomethacin, and amniocentesis allow the pregnancy to continue. Affected neonates are usually born premature, have postnatal polyuria, vomiting, failure to thrive, hypercalciuria, and subsequently nephrocalcinosis. Hypokalemia, metabolic alkalosis, secondary hyperaldosteronism and hyperreninaemia are other characteristic features. Volume depletion due to excessive salt and water loss on long term stimulates renin-angiotensin-aldosterone system resulting in juxtaglomerular hyperplasia. Clinical features and electrolyte abnormalities may also depend on the subtype of the syndrome. Prenatal diagnosis and timely indomethacin administration prevent electrolyte imbalance, restitute normal growth, and improve activity. In this paper, authors present classification, pathophysiology, clinical manifestations, laboratory findings, complications, and prognosis of ABS.

  2. Antenatal Bartter Syndrome: A Review

    Science.gov (United States)

    Bhat, Y. Ramesh; Vinayaka, G.; Sreelakshmi, K.

    2012-01-01

    Antenatal Bartter syndrome (ABS) is a rare autosomal recessive renal tubular disorder. The defective chloride transport in the loop of Henle leads to fetal polyuria resulting in severe hydramnios and premature delivery. Early onset, unexplained maternal polyhydramnios often challenges the treating obstetrician. Increasing polyhydramnios without apparent fetal or placental abnormalities should lead to the suspicion of this entity. Biochemical analysis of amniotic fluid is suggested as elevated chloride level is usually diagnostic. Awareness, early recognition, maternal treatment with indomethacin, and amniocentesis allow the pregnancy to continue. Affected neonates are usually born premature, have postnatal polyuria, vomiting, failure to thrive, hypercalciuria, and subsequently nephrocalcinosis. Hypokalemia, metabolic alkalosis, secondary hyperaldosteronism and hyperreninaemia are other characteristic features. Volume depletion due to excessive salt and water loss on long term stimulates renin-angiotensin-aldosterone system resulting in juxtaglomerular hyperplasia. Clinical features and electrolyte abnormalities may also depend on the subtype of the syndrome. Prenatal diagnosis and timely indomethacin administration prevent electrolyte imbalance, restitute normal growth, and improve activity. In this paper, authors present classification, pathophysiology, clinical manifestations, laboratory findings, complications, and prognosis of ABS. PMID:22518185

  3. Synthesis of a novel hydantoin-containing silane and its effect on the tracking and bacteria resistance of addition-cure liquid silicone rubber

    Science.gov (United States)

    Liu, Tian; Zeng, Xingrong; Fang, Weizhen; Lai, Xuejun; Li, Hongqiang

    2017-11-01

    A novel hydantoin-containing silane, [3-(5,5-dimethylhydantoinurethano) propyl] ethoxyallyloxysilane (DMHURPAS), was synthesized and the structure was characterized by FTIR and 1H NMR. The effect of DMHURPAS was investigated on the anti-tracking and antibacterial properties of addition-cure liquid silicone rubber (ALSR) after surface chlorination. It was found that ALSR containing only 1.5 phr of DMHURPAS passed 1A 4.5 kV level and erosion mass decreased from 0.843 g to 0.037 g. The thermal stability of ALSR was significantly improved and the mechanical properties were also enhanced. From thermogravimetry-Fourier transform infrared spectroscopy (TG-FTIR), ALSR/DMHURPAS showed significant decrease of carbonyl compounds and cyclic oligomers but increase of CH4 and CO2 during thermal degradation, indicating that DMHURPAS could inhibit oxidation of methyl groups and unzipping reaction, and promote the cleavage of methyl groups in ALSR. The antibacterial rates of ALSR containing 2.0 phr of DMHURPAS against Escherichia coli and Staphylococcus aureus were 95.7% and 83.4%, respectively.

  4. Fetal body weight and the development of the control of the cardiovascular system in fetal sheep.

    Science.gov (United States)

    Frasch, M G; Müller, T; Wicher, C; Weiss, C; Löhle, M; Schwab, K; Schubert, H; Nathanielsz, P W; Witte, O W; Schwab, M

    2007-03-15

    Reduced birth weight predisposes to cardiovascular diseases in later life. We examined in fetal sheep at 0.76 (n = 18) and 0.87 (n = 17) gestation whether spontaneously occurring variations in fetal weight affect maturation of autonomic control of cardiovascular function. Fetal weights at both gestational ages were grouped statistically in low (LW) and normal weights (NW) (P fetal sheep not constituting a major malnutritive condition. Mean fetal blood pressure (FBP) of all fetuses was negatively correlated to fetal weight at 0.76 but not 0.87 gestation (P fetal heart rate depended on fetal weight (P fetal weight within the normal weight span is accompanied by a different trajectory of development of sympathetic blood pressure and vagal heart rate control. This may contribute to the development of elevated blood pressure in later life. Examination of the underlying mechanisms and consequences may contribute to the understanding of programming of cardiovascular diseases.

  5. Prenatal diagnosis of Beckwith-Wiedemann syndrome by two- and three-dimensional ultrasonography

    Directory of Open Access Journals (Sweden)

    Edward Araujo Junior

    2013-12-01

    Full Text Available Beckwith-Wiedemann syndrome is a genetic syndrome characterized by macroglossia, omphalocele, fetal gigantism and neonatal hypoglycemia. The authors report a case of Beckwith-Wiedemann syndrome diagnosed in a 32-year-old primigravida in whom two-dimensional ultrasonography revealed the presence of abdominal wall cyst, macroglossia and polycystic kidneys. Three-dimensional ultrasonography in rendering mode was of great importance to confirm the previous two-dimensional ultrasonography findings.

  6. Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

    Science.gov (United States)

    Milosavljević, Doris; Overwater, Eline; Tamminga, Saskia; de Boer, Karin; Elting, Mariet W; van Hoorn, Marion E; Rinne, Tuula; Houweling, Arjan C

    2016-07-01

    Mutations in RIT1, involved in the RAS-MAPK pathway, have recently been identified as a cause for Noonan syndrome. We present two patients with Noonan syndrome caused by a RIT1 mutation with novel phenotypic manifestations, severe bilateral lower limb lymphedema starting during puberty, and fetal hydrops resulting in intrauterine fetal death, respectively. Including our patients, a total of 52 patients have been reported with Noonan syndrome caused by a RIT1 mutation. Our report contributes to the delineation of the phenotype associated with RIT1 mutations and underlines that lymphatic involvement is part of this spectrum. In addition, we provide an overview of the currently described Noonan syndrome patients with RIT1 mutations in literature. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  7. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.

    Science.gov (United States)

    Badeau, Mylène; Lindsay, Carmen; Blais, Jonatan; Nshimyumukiza, Leon; Takwoingi, Yemisi; Langlois, Sylvie; Légaré, France; Giguère, Yves; Turgeon, Alexis F; Witteman, William; Rousseau, François

    2017-11-10

    Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method. Two approaches used for gNIPT are massively parallel shotgun sequencing (MPSS) and targeted massively parallel sequencing (TMPS). To evaluate and compare the diagnostic accuracy of MPSS and TMPS for gNIPT as a first-tier test in unselected populations of pregnant women undergoing aneuploidy screening or as a second-tier test in pregnant women considered to be high risk after first-tier screening for common fetal aneuploidies. The gNIPT results were confirmed by a reference standard such as fetal karyotype or neonatal clinical examination. We searched 13 databases (including MEDLINE, Embase and Web of Science) from 1 January 2007 to 12 July 2016 without any language, search filter or publication type restrictions. We also screened reference lists of relevant full-text articles, websites of private prenatal diagnosis companies and conference abstracts. Studies could include pregnant women of any age, ethnicity and gestational age with singleton or multifetal pregnancy. The women must have had a screening test for fetal aneuploidy by MPSS or TMPS and a reference standard such as fetal karyotype or medical records from birth. Two review authors independently carried out study selection, data extraction and quality assessment (using the QUADAS-2 tool). Where possible, hierarchical models or simpler alternatives were used for meta-analysis. Sixty-five studies of

  8. Clinical significance of perceptible fetal motion.

    Science.gov (United States)

    Rayburn, W F

    1980-09-15

    The monitoring of fetal activity during the last trimester of pregnancy has been proposed to be useful in assessing fetal welfare. The maternal perception of fetal activity was tested among 82 patients using real-time ultrasonography. All perceived fetal movements were visualized on the scanner and involved motion of the lower limbs. Conversely, 82% of all visualized motions of fetal limbs were perceived by the patients. All combined motions of fetal trunk with limbs were preceived by the patients and described as strong movements, whereas clusters of isolated, weak motions of the fetal limbs were less accurately perceived (56% accuracy). The number of fetal movements perceived during the 15-minute test period was significantly (p fetal motion was present (44 of 45 cases) than when it was absent (five of 10 cases). These findings reveal that perceived fetal motion is: (1) reliable; (2) related to the strength of lower limb motion; (3) increased with ruptured amniotic membranes; and (4) reassuring if considered to be active.

  9. Antiphospholipid Syndrome during pregnancy: the state of the art

    Science.gov (United States)

    Di Prima, Fosca A. F.; Valenti, Oriana; Hyseni, Entela; Giorgio, Elsa; Faraci, Marianna; Renda, Eliana; De Domenico, Roberta; Monte, Santo

    2011-01-01

    Obstetric complications are the hallmark of antiphospholipid syndrome. Recurrent miscarriage, early delivery, oligohydramnios, prematurity, intrauterine growth restriction, fetal distress, fetal or neonatal thrombosis, pre-eclampsia/eclampsia, HELLP syndrome, arterial or venous thrombosis and placental insufficiency are the most severe APS-related complication for pregnant women. Antiphospholipid antibodies promote activation of endothelial cells, monocytes and platelets, causing an overproduction of tissue factor and thromboxane A2. Complement activation might have a central pathogenetic role. These factors, associated with the typical changes in the hemostatic system during normal pregnancy, result in a hypercoagulable state. This is responsible of thrombosis that is presumed to provoke many of the pregnancy complications associated with APS. Obstetric care is based on combined medical-obstetric high-risk management and treatment with the association between aspirin and heparin. This review aims to deter- mine the current state of the art of APS by investigating the knowledge achievements of recent years, to provide the most appropriate diagnostic and therapeutic management for pregnant women suffering from this syndrome. PMID:22439075

  10. Differential diagnosis between fetal extrarenal pelvis and obstructive uropathy on fetal ultrasonogram

    Energy Technology Data Exchange (ETDEWEB)

    Han, Byoung Hee; Cho, Jeong Yeon; Cho, Byung Jae; Lee, Kyung Sang [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2003-03-15

    To establish the standard guideline for differentiating the extrarenal pelvis from obstructive uropathy on fetal ultrasonogram (US) to avoid unnecessary postnatal follow-up and other additional examinations. From July 2000 to July 2001, Thirty-four kidneys with hydronephrosis diagnosed on fetal ultrasonogram performed during the third trimester of pregnancy were included in this study. Hydronephrosis was defined as the pelvic anteroposterior (AP) diameter being 4 mm or greater before 33 weeks of gestation while 7 mm or greater at or after 33 weeks of gestation. The size of the renal pelvis was measured at intrarenal, intra-extrarenal junctional and extrarenal portions in every kidney on the transverse view of the fetal renal hiluin. Postnatally, all neonates underwent renal ultrasonogram 2 to 8 days after birth, and renal pelvic diameters were measured using the same method as the fetal US in 28 kidneys. We then compared the extrarenal-intrarenal ratio (E/I ratio) of pelvic diameter between fetal and neoatal kidneys. We presumed that the extrarenal pelvis in fetal US was the pelvis showing the normal intrarenal pelvic diameter accompanied by the most dilated exrtarenal pelvic diameter. Follow-up ultrasonograms were measured using the same method as the fetal US in 28 kidneys. We then compared the extrarenal intrarenal ratio (E/I ratio) of pelvic diameter between fetal and neonatal kidneys. We presumed that the extrarenal pelvis on fetal US was the pelvis showing the normal intrarenal pelvic diameter accompanied by the most dilated extrarenal pelvic diameter. Follow-up ultrasonograms were performed in 12 of 17 neonates who had the maximal diameter at extrarenal portion on fetal ultrasonogram. VCUG and IVU were taken in 2 patients with a persistent dilatation of the renal pelvis on follow-up ultrasonograms. On fetal US, 17/34 kidneys showed the extrarenal portion with the most dilatation while in 12/34 kidneys, the intra-extra renal junction portion was the most

  11. Differential diagnosis between fetal extrarenal pelvis and obstructive uropathy on fetal ultrasonogram

    International Nuclear Information System (INIS)

    Han, Byoung Hee; Cho, Jeong Yeon; Cho, Byung Jae; Lee, Kyung Sang

    2003-01-01

    To establish the standard guideline for differentiating the extrarenal pelvis from obstructive uropathy on fetal ultrasonogram (US) to avoid unnecessary postnatal follow-up and other additional examinations. From July 2000 to July 2001, Thirty-four kidneys with hydronephrosis diagnosed on fetal ultrasonogram performed during the third trimester of pregnancy were included in this study. Hydronephrosis was defined as the pelvic anteroposterior (AP) diameter being 4 mm or greater before 33 weeks of gestation while 7 mm or greater at or after 33 weeks of gestation. The size of the renal pelvis was measured at intrarenal, intra-extrarenal junctional and extrarenal portions in every kidney on the transverse view of the fetal renal hiluin. Postnatally, all neonates underwent renal ultrasonogram 2 to 8 days after birth, and renal pelvic diameters were measured using the same method as the fetal US in 28 kidneys. We then compared the extrarenal-intrarenal ratio (E/I ratio) of pelvic diameter between fetal and neoatal kidneys. We presumed that the extrarenal pelvis in fetal US was the pelvis showing the normal intrarenal pelvic diameter accompanied by the most dilated exrtarenal pelvic diameter. Follow-up ultrasonograms were measured using the same method as the fetal US in 28 kidneys. We then compared the extrarenal intrarenal ratio (E/I ratio) of pelvic diameter between fetal and neonatal kidneys. We presumed that the extrarenal pelvis on fetal US was the pelvis showing the normal intrarenal pelvic diameter accompanied by the most dilated extrarenal pelvic diameter. Follow-up ultrasonograms were performed in 12 of 17 neonates who had the maximal diameter at extrarenal portion on fetal ultrasonogram. VCUG and IVU were taken in 2 patients with a persistent dilatation of the renal pelvis on follow-up ultrasonograms. On fetal US, 17/34 kidneys showed the extrarenal portion with the most dilatation while in 12/34 kidneys, the intra-extra renal junction portion was the most

  12. Imaging spectrum of primary antiphospholipid antibody syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Kwon Ha; Won, Jong Jin [Wonkwang University Hospital, Iksan (Korea, Republic of); Ha, Hyun Kwon; Kim, Jung Hoon; Kim, Jeong Gon; Ki, Won Woo; Kim, Pyo Nyun; Lee, Moon Gyu; Auh, Yong Ho [Asan Medical Center, Seoul (Korea, Republic of)

    1998-04-01

    Antiphospholipid antibody syndrome is recognized as one of the most important causes of hypercoagulability. It can be clinically diagnosed if patients have experienced unexplained recurrent venous or arterial thrombosis, recurrent fetal loss, or thrombocytopenia in the presence of circulating autoantibodies to phospholipids, such as anticardiolipin antibody or lupus anticoagulant. Approximately half of all patients with this syndrome do not have associated systemic disease, and their condition is described as primary antiphospholipid antibody syndrome (PAPS). In the remainder, the syndrome is accompanied by systemic lupus erythematosus or other connective tissue diseases, and is known as secondary antiphospholipid syndrome (1). The purpose of this paper is to illustrate the systemic manifestation of PAPS, focusing on the radiological findings of CT, MR and angiography in clinically proven patients. (author). 8 refs., 10 figs.

  13. Imaging spectrum of primary antiphospholipid antibody syndrome

    International Nuclear Information System (INIS)

    Yoon, Kwon Ha; Won, Jong Jin; Ha, Hyun Kwon; Kim, Jung Hoon; Kim, Jeong Gon; Ki, Won Woo; Kim, Pyo Nyun; Lee, Moon Gyu; Auh, Yong Ho

    1998-01-01

    Antiphospholipid antibody syndrome is recognized as one of the most important causes of hypercoagulability. It can be clinically diagnosed if patients have experienced unexplained recurrent venous or arterial thrombosis, recurrent fetal loss, or thrombocytopenia in the presence of circulating autoantibodies to phospholipids, such as anticardiolipin antibody or lupus anticoagulant. Approximately half of all patients with this syndrome do not have associated systemic disease, and their condition is described as primary antiphospholipid antibody syndrome (PAPS). In the remainder, the syndrome is accompanied by systemic lupus erythematosus or other connective tissue diseases, and is known as secondary antiphospholipid syndrome (1). The purpose of this paper is to illustrate the systemic manifestation of PAPS, focusing on the radiological findings of CT, MR and angiography in clinically proven patients. (author). 8 refs., 10 figs

  14. Diagnosis of antenatal Bartter syndrome.

    Science.gov (United States)

    Narayan, R; Peres, M; Kesby, G

    2016-01-01

    Bartter syndrome is a rare heterogeneous group of autosomal-recessive salt-losing renal tubular disorders that can present in fetal life (antenatal Bartter syndrome; ABS) as "unexplained" early-onset polyhydramnios, often associated with growth restriction. Prenatal diagnosis of the condition involves assessment of amniotic fluid biochemistry in a setting of polyuric polyhydramnios; with elevated chloride levels considered a consistent and diagnostic finding. Other amniotic fluid biochemical markers have been described, notably increased aldosterone levels, and low total protein levels. NOVEL INSIGHT: Antenatal Bartter syndrome is a heterogeneous group of renal disorders. While certain biochemical features in amniotic fluid might heighten suspicion, final diagnosis can only be made in the postnatal setting. In the setting of unexplained severe polyhydramnios, clinicians should continue to entertain the diagnosis of antenatal Bartter Syndrome and maintain neonatal surveillance, even if amniotic fluid markers do not support the diagnosis.

  15. Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism.

    Science.gov (United States)

    Gilboa, Yinon; Perlman, Sharon; Pode-Shakked, Naomi; Pode-Shakked, Ben; Shrim, Alon; Azaria-Lahav, Einat; Dekel, Benjamin; Yonath, Hagith; Berkenstadt, Michal; Achiron, Reuven

    2016-11-01

    The linkage between 17q12 microdeletions, renal anomalies, and higher risk for neurodevelopmental disorders is well described in the literature. The current study presents prenatal diagnosis of normal-sized fetal hyperechogenic kidneys leading to the diagnosis of 17q12 deletion syndrome and autism spectrum disorder. Over a period of 9 years in a single referral center, seven fetuses were diagnosed with hyperechogenic renal parenchyma and were followed up prospectively. Amniocentesis for molecular diagnosis was performed in all cases, and subsequently, five fetuses were found to harbor a 17q12 deletion by chromosomal microarray analysis. Postnatal evaluation was carried out by a developmental neurologist. Five of the seven fetuses had molecular diagnosis of 17q12 deletion. One patient elected termination of pregnancy. On long-term follow-up, all of the four children showed symptoms consistent with neurodevelopmental disorders. The two fetuses with no deletion have a normal follow-up with regression of the renal hyperechogenicity. We report a strikingly high correlation between prenatal hyperechogenic kidneys, 17q12 microdeletion, and autism spectrum disorder with the advantage of optimal prenatal counseling as well as early diagnosis and intervention. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  16. Fetal gastrointestinal MRI: all that glitters in T1 is not necessarily colon

    Energy Technology Data Exchange (ETDEWEB)

    Colombani, Marina [La Timone Children' s Hospital, Service de Radiopediatrie, Marseille (France); Ferry, Mathilde [Groupe Rennais d' Imagerie Medicale, Service de Radiologie, Rennes (France); Garel, Catherine [Hopital d' Enfants Armand-Trousseau, Service de Radiologie, Paris (France); Cassart, Marie [Erasme Hospital, Medical Imaging, Brussels (Belgium); Couture, Alain [Hopital Arnaud de Villeneuve, Pediatric Radiology, Montpellier (France); Guibaud, Laurent [Hopital Femme Mere Enfant, Pediatric and Fetal Imaging, Lyon (France); Avni, Fred [Erasme Hospital, Radiology, Brussels (Belgium); Gorincour, Guillaume [La Timone Children' s Hospital, Pediatric Radiology, Marseille (France)

    2010-07-15

    It has been described that both the colon and distal ileum present with a physiological hypersignal on T1-weighted sequences during the second and third trimesters of pregnancy because of their protein-rich meconium content, it was unclear whether the normal characteristics that have been described on fetal MRI can be applied to gastrointestinal (GI) obstructions. To analyse the localisation value of T1 hypersignal within dilated bowel loops in fetuses with gastrointestinal tract obstruction. A retrospective 4-year multicentre study analysing cases of fetal GI obstruction in which MRI demonstrated T1 hypersignal content in the dilated loops. Data collected included gestational age (GA) at diagnosis, bowel appearance on US, CFTR gene mutations and amniotic levels of gastrointestinal enzymes. The suggested prenatal diagnosis was eventually compared to postnatal imaging and surgery. Eleven patients were included. The median GA at US diagnosis was 23 weeks (range 13-32). In eight cases there was a single dilated loop, while several segments were affected in three. The median GA at MRI was 29 weeks (range 23-35). One case presented with cystic fibrosis mutations. Final prenatally suspected diagnoses were distal ileal atresia or colon in nine cases and proximal atresia in two. Postnatal findings were proximal jejunal atresia in nine cases and meconium ileus in two. In five cases the surgical findings demonstrated short bowel syndrome. In cases of fetal occlusion, T1 hypersignal should not be considered as a sign of distal ileal or colonic occlusion. The obstruction may be proximal, implying a risk of small bowel syndrome, which requires adequate parental counselling. (orig.)

  17. Maternal-fetal cholesterol transport in the second half of mouse pregnancy does not involve LDL receptor-related protein 2.

    Science.gov (United States)

    Zwier, M V; Baardman, M E; van Dijk, T H; Jurdzinski, A; Wisse, L J; Bloks, V W; Berger, R M F; DeRuiter, M C; Groen, A K; Plösch, T

    2017-08-01

    LDL receptor-related protein type 2 (LRP2) is highly expressed on both yolk sac and placenta. Mutations in the corresponding gene are associated with severe birth defects in humans, known as Donnai-Barrow syndrome. We here characterized the contribution of LRP2 and maternal plasma cholesterol availability to maternal-fetal cholesterol transport and fetal cholesterol levels in utero in mice. Lrp2 +/- mice were mated heterozygously to yield fetuses of all three genotypes. Half of the dams received a 0.5% probucol-enriched diet during gestation to decrease maternal HDL cholesterol. At E13.5, the dams received an injection of D7-labelled cholesterol and were provided with 1- 13 C acetate-supplemented drinking water. At E16.5, fetal tissues were collected and maternal cholesterol transport and fetal synthesis quantified by isotope enrichments in fetal tissues by GC-MS. The Lrp2 genotype did not influence maternal-fetal cholesterol transport and fetal cholesterol. However, lowering of maternal plasma cholesterol levels by probucol significantly reduced maternal-fetal cholesterol transport. In the fetal liver, this was associated with increased cholesterol synthesis rates. No indications were found for an interaction between the Lrp2 genotype and maternal probucol treatment. Maternal-fetal cholesterol transport and endogenous fetal cholesterol synthesis depend on maternal cholesterol concentrations but do not involve LRP2 in the second half of murine pregnancy. Our results suggest that the mouse fetus can compensate for decreased maternal cholesterol levels. It remains a relevant question how the delicate system of cholesterol transport and synthesis is regulated in the human fetus and placenta. © 2016 Scandinavian Physiological Society. Published by John Wiley & Sons Ltd.

  18. Prune-belly syndrome detected by ultrasound in the first trimester and the usefulness of vesicocentesis as a modality of treatment.

    Science.gov (United States)

    Byon, Mina; Kim, Gwang Jun

    2013-07-01

    Prune-belly syndrome may be related to lower urinary tract obstruction (LUTO). LUTO in the early gestational age exacerbates fetal renal function and may require intrauterine intervention. If early developed LUTO causes bladder distension and abdominal musculature deficiency, it will result in prune belly syndrome. Therefore, early detection of the disease and proper treatment before the renal impairment is important. However, there are few literatures concerning the treatment of prune belly syndrome in the first trimester. We report a case of prune belly syndrome diagnosed at 11+6 weeks of gestation and the value of vesicocentesis as a modality of treatment. Ultrasound showed dilated fetal bladder and vesicocentesis was successful in reducing the volume of the bladder. However, the pregnancy was terminated upon request.

  19. The impact of vitamin D on fetal and neonatal lung maturation

    DEFF Research Database (Denmark)

    Lykkedegn, Sine; Sorensen, Grith Lykke; Beck-Nielsen, Signe Sparre

    2015-01-01

    Respiratory distress syndrome (RDS) and bronchopulmonary dysplasia (BPD) are major complications to preterm birth. Hypovitaminosis D is prevalent in pregnancy. We systematically reviewed the evidence of the impact of vitamin D on lung development, surfactant synthesis, RDS and BPD searching Pub......Med, Embase and Cochrane databases with the terms vitamin D AND (surfactant OR lung maturation OR lung development OR respiratory distress syndrome OR fetal lung OR prematurity OR bronchopulmonary dysplasia). Three human studies, ten animal studies, two laboratory studies and one combined animal...... and laboratory study were included. Human evidence was sparse allowing no conclusions. BPD was not associated with vitamin D receptor (VDR) polymorphism in a fully adjusted analysis. Animal and laboratory studies showed substantial positive effects of vitamin D on the ATII cell, fibroblast proliferation...

  20. Fetal scalp blood sampling during labor

    DEFF Research Database (Denmark)

    Chandraharan, Edwin; Wiberg, Nana

    2014-01-01

    Fetal cardiotocography is characterized by low specificity; therefore, in an attempt to ensure fetal well-being, fetal scalp blood sampling has been recommended by most obstetric societies in the case of a non-reassuring cardiotocography. The scientific agreement on the evidence for using fetal...... scalp blood sampling to decrease the rate of operative delivery for fetal distress is ambiguous. Based on the same studies, a Cochrane review states that fetal scalp blood sampling increases the rate of instrumental delivery while decreasing neonatal acidosis, whereas the National Institute of Health...... and Clinical Excellence guideline considers that fetal scalp blood sampling decreases instrumental delivery without differences in other outcome variables. The fetal scalp is supplied by vessels outside the skull below the level of the cranial vault, which is likely to be compressed during contractions...

  1. Feto portador de síndrome de turner e tetralogia de fallot associadas à elevação de alfafetoproteína materna Fetal turner syndrome and tetralogy of fallot associated with elevated maternal serum alpha-fetoprotein levels

    Directory of Open Access Journals (Sweden)

    Eduardo Vieira Neto

    1998-06-01

    Full Text Available A síndrome de Turner fetal e suas complicações, a hidropisia e o higroma cístico, podem produzir alteração dos marcadores bioquímicos de soro materno inicialmente utilizados no rastreamento de síndrome de Down e de defeitos de tubo neural (DTN. Os autores relatam o caso de uma gestante de 37 anos, que foi rastreada para síndrome de Down e DTN no início do 2º trimestre. Foi constatado aumento da alfafetoproteína de soro materno (MSAFP e o rastreamento foi considerado positivo para DTN. Foi realizado exame ultra-sonográfico tridimensional, que não demonstrou nenhuma anormalidade fetal ou placentária, caracterizando o caso como elevação idiopática de MSAFP. No 3º trimestre, a gravidez evoluiu com acentuada oligoidrâmnia e alteração do fluxo uteroplacentário, obrigando à instituição de terapia com corticosteróides e parto cesáreo na 34ª semana gestacional. O concepto do sexo feminino foi encaminhado à UTI neonatal, onde foram diagnosticadas tetralogia de Fallot e síndrome de Turner. Esse caso incentivou os autores a rever a literatura sobre marcadores bioquímicos de soro materno na síndrome de Turner e nas malformações cardíacas congênitas. Ao final, propõe-se um protocolo para elevação idiopática de MSAFP.Turner syndrome and its complications, hydrops and cystic hygroma, can produce alterations in maternal serum biochemical markers used in screening for Down's syndrome and neural tube defects (NTD. The authors report the case of a 37-year-old pregnant woman, screened for Down's syndrome and NTD in the second trimester of pregnancy. The maternal serum alpha-fetoprotein (MSAFP level was increased and the test was considered screen positive for NTD. A three-dimensional ultrasound investigation was performed, but no fetal or placental anomalies were found, indicating a case of unexplained increased msafp. In the third trimester severe oligohydramnios and disturbances in uteroplacental arterial circulation

  2. Intrapartum fetal monitoring by ST-analysis of the fetal ECG

    NARCIS (Netherlands)

    Westerhuis, M.E.M.H.

    2010-01-01

    Objective Intrapartum fetal monitoring aims to identify fetuses at risk for neonatal and long-term injury due to asphyxia. To serve this purpose, cardiotocography (CTG) combined with ST-analysis of the fetal electrocardiogram (ECG), which is a relatively new method, may be used. The main aim of this

  3. In-utero treatment of hypoplastic left heart syndrome

    DEFF Research Database (Denmark)

    Lytzen, Rebekka; Helvind, Morten; Jørgensen, Finn Stener

    2015-01-01

    In-utero treatment of fetal aortic stenosis (AS) may prevent hypoplastic left heart syndrome. A girl was diagnosed prenatally with severe AS and was referred to the Women's and Children's Hospital in Linz, Austria, where she underwent an intrauterine valvuloplasty of the aortic valve. Postnatally...

  4. Amniotic Band Syndrome, Perinatal Hospice, and Palliative Care versus Active Management

    Directory of Open Access Journals (Sweden)

    Shadi Rezai

    2016-01-01

    Full Text Available Introduction. Amniotic band syndrome and sequence are a relatively rare condition in which congenital anomalies occur as a result of the adherence and entrapment of fetal parts with coarse fibrous bands of the amniotic membrane. A large percentage of reported cases have an atypical gestational history. The frequency of this obstetric complication is not affected by fetal gender, genetic abnormality, or prenatal infection. Case. A 21-year-old, G1P0 female parturient at 18 weeks and 5 days with a single intrauterine gestation during a routine ultrasound evaluation was noted to have amniotic band sequence. The pregnancy was subsequently complicated by preterm premature rupture of membranes with oligohydramnios, resulting in a surviving neonate scheduled for rehabilitative treatment. Conclusion. Amniotic band syndrome is an uncommon congenital anomaly resulting in multiple disfiguring and disabling manifestations. Several theories are proposed with most involving early rupture of the amnion and entanglement of fetal parts by amniotic bands. This syndrome can be manifested by development of multiple malformations, with the majority of the defects being limb abnormalities of a disorganized nature, as in the case we present. In the absence of a clear etiology of consequential congenital abnormalities, obstetric management guidelines should use shared decision models to focus on the quality of life for the offspring.

  5. Maternal undernutrition and fetal developmental programming of obesity: the glucocorticoid connection.

    Science.gov (United States)

    Correia-Branco, Ana; Keating, Elisa; Martel, Fátima

    2015-02-01

    An adequate maternal nutrition during pregnancy is crucial for the health outcome of offspring in adulthood. Maternal undernutrition during critical periods of fetal development can program the fetus for metabolic syndrome (MetS) later in life, especially when postnatally challenged with a hypernutritive diet. Adipogenesis, which begins in utero and accelerates in neonatal life, is a major candidate for developmental programming. During fetal development, the hypothalamic-pituitary-adrenal (HPA) axis is extremely susceptible to programming, and the HPA tone is increased throughout life in undernourished conditions. As a consequence, an alteration in the expression and function of glucocorticoid (GC) receptors and of the major GC regulatory enzymes (11β-hydroxysteroid dehydrogenase 1 and -2) occurs. In this review, we will give insights into the role of maternoplacental adverse interactions under the specific context of maternal undernutrition, for later-in-life MetS development, with a special emphasis on the role of GCs. © The Author(s) 2014.

  6. Genetic Syndromes, Maternal Diseases and Antenatal Factors Associated with Autism Spectrum Disorders (ASD).

    Science.gov (United States)

    Ornoy, Asher; Weinstein-Fudim, Liza; Ergaz, Zivanit

    2016-01-01

    Autism spectrum disorder (ASD) affecting about 1% of all children is associated, in addition to complex genetic factors, with a variety of prenatal, perinatal, and postnatal etiologies. In addition, ASD is often an important clinical presentation of some well-known genetic syndromes in human. We discuss these syndromes as well as the role of the more important prenatal factors affecting the fetus throughout pregnancy which may also be associated with ASD. Among the genetic disorders we find Fragile X, Rett syndrome, tuberous sclerosis, Timothy syndrome, Phelan-McDermid syndrome, Hamartoma tumor syndrome, Prader-Willi and Angelman syndromes, and a few others. Among the maternal diseases in pregnancy associated with ASD are diabetes mellitus (PGDM and/or GDM), some maternal autoimmune diseases like antiphospholipid syndrome (APLS) with anti-β2GP1 IgG antibodies and thyroid disease with anti-thyroid peroxidase (TPO) antibodies, preeclampsia and some other autoimmune diseases with IgG antibodies that might affect fetal brain development. Other related factors are maternal infections (rubella and CMV with fetal brain injuries, and possibly Influenza with fever), prolonged fever and maternal inflammation, especially with changes in a variety of inflammatory cytokines and antibodies that cross the placenta and affect the fetal brain. Among the drugs are valproic acid, thalidomide, misoprostol, and possibly SSRIs. β2-adrenergic receptor agonists and paracetamol have also lately been associated with increased rate of ASD but the data is too preliminary and inconclusive. Associations were also described with ethanol, cocaine, and possibly heavy metals, heavy smoking, and folic acid deficiency. Recent studies show that heavy exposure to pesticides and air pollution, especially particulate matter ASD. Finally, we have to remember that many of the associations mentioned in this review are only partially proven, and not all are "clean" of different confounding factors. The

  7. Midline corpus callosum is a neuroanatomical focus of fetal alcohol damage.

    Science.gov (United States)

    Bookstein, Fred L; Sampson, Paul D; Connor, Paul D; Streissguth, Ann P

    2002-06-15

    Prenatal exposure to high levels of alcohol often induces birth defects that combine morphological stigmata with neurological or neuropsychological deficits. But it has proved problematic to diagnose these syndromes in adolescents and adults, in whom the morphological signs are absent or attenuated, the behavioral deficits nonspecific, and the exposure history often difficult to reconstruct. Localizing the associated brain abnormalities might circumvent most of these difficulties. To this end, three-dimensional (3D) locations were recorded for 67 homologous points on or near the corpus callosum in magnetic resonance (MR) brain images from 60 adolescents and adults who were normal, 60 diagnosed with fetal alcohol syndrome, and 60 diagnosed with fetal alcohol effects. We combined the standard statistical approach to this type of geometric data, Procrustes analysis, with a multivariate strategy focusing on differences in variability. In this data set, the shape of the corpus callosum and its vicinity proves systematically much more variable in the alcohol-affected brains than in those of the normal subjects. From this excess variability follows a promising classification rule, having both high sensitivity (100 out of 117) and high specificity (49 out of 60) in this sample. The discrimination uses four landmark points and two summary scores of callosal outline shape. The information from the corpus callosum and vicinity, as viewed in MR brain images of full-grown subjects, may serve as a permanent record of the prenatal effects of alcohol, even in patients who are first suspected of these syndromes relatively late in life or who lack the facial signs of prenatal alcohol damage. The statistical pattern underlying the callosal diagnosis also leads to speculations on mechanisms of the prenatal damage. Copyright 2002 Wiley-Liss, Inc.

  8. [Correlations between the hypothalamo-pituitary-adrenal axis and the metabolic syndrome].

    Science.gov (United States)

    Góth, Miklós; Hubina, Erika; Korbonits, Márta

    2005-01-09

    The metabolic syndrome has several similarities with Cushing's syndrome (impaired glucose tolerance, hypertension, dyslipidemia, central obesity) suggesting that abnormalities in the regulation of the hypothalamic-pituitary-adrenal axis may have a link with the metabolic syndrome. Several studies suggested an association between the clinical signs of the metabolic syndrome and the increased hypothalamic-pituitary-adrenal axis activity based on increased cortisol concentration at 09.00 a.m. and increased cortisol response to corticotropin. According to the Barker hypothesis the fetal malnutrition could determine adult cardiovascular diseases (coronary heart disease, hypertension), some endocrine and metabolic disorders (obesity, type 2 diabetes and hyperlipidemia). The suggested mechanism of the phenomenon is that the suboptimal fetal nutrition results in glucocorticoid overproduction. The 11beta-hydroxysteroid dehydrogenase (converts biological inactive cortisone to cortisol and vice versa) is an important enzyme in cortisol metabolism. The increased expression of 11beta-hydroxysteroid dehydrogenase type 1 in fat tissue could lead to central obesity and impaired glucose tolerance. The hypothesis that increased corticotropin-releasing hormone production drives the overactive hypothalamo-pituitary-adrenal axis was not proven. Further investigations are needed to identify additional pathogenetic factors and to find new therapeutic possibilities.

  9. Fetal short time variation during labor: a non-invasive alternative to fetal scalp pH measurements?

    OpenAIRE

    Schiermeier, Sven; Reinhard, Joscha; Hatzmann, Hendrike; Zimmermann, Ralf C.; Westhof, Gregor

    2009-01-01

    Objective: To determine whether short time variation (STV) of fetal heart beat correlates with scalp pH measurements during labor. Patients and methods: From 1279 deliveries, 197 women had at least one fetal scalp pH measurement. Using the CTG-Player®, STVs were calculated from the electronically saved cardiotocography (CTG) traces and related to the fetal scalp pH measurements. Results: There was no correlation between STV and fetal scalp pH measurements (r=−0.0592). Conclusions: Fetal ST...

  10. Real-Time Automatic Fetal Brain Extraction in Fetal MRI by Deep Learning

    OpenAIRE

    Salehi, Seyed Sadegh Mohseni; Hashemi, Seyed Raein; Velasco-Annis, Clemente; Ouaalam, Abdelhakim; Estroff, Judy A.; Erdogmus, Deniz; Warfield, Simon K.; Gholipour, Ali

    2017-01-01

    Brain segmentation is a fundamental first step in neuroimage analysis. In the case of fetal MRI, it is particularly challenging and important due to the arbitrary orientation of the fetus, organs that surround the fetal head, and intermittent fetal motion. Several promising methods have been proposed but are limited in their performance in challenging cases and in real-time segmentation. We aimed to develop a fully automatic segmentation method that independently segments sections of the feta...

  11. The Coffin-Siris syndrome.

    OpenAIRE

    Qazi, Q H; Heckman, L S; Markouizos, D; Verma, R S

    1990-01-01

    We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding difficulties. There was decreased fetal activity and intrauterine growth retardation.

  12. Robinow syndrome

    Directory of Open Access Journals (Sweden)

    Suresh S

    2008-01-01

    Full Text Available Robinow syndrome is a rare autosomal recessive mesomelic dwarfism with just more than 100 cases reported in the literature so far. The lower extremity is spared with skeletal deformity usually confined to the forearm, hand, and the dorsal spine. Diagnosis is made easily in the early childhood by the typical "fetal facies" appearance, which disappears to a certain extent as the patient grows. The author reports two cases of this entity with vertebral segmentation defects, rib fusion, and typical severe brachymelia and facial features.

  13. Non-invasive pulsed cavitational ultrasound for fetal tissue ablation: feasibility study in a fetal sheep model.

    Science.gov (United States)

    Kim, Y; Gelehrter, S K; Fifer, C G; Lu, J C; Owens, G E; Berman, D R; Williams, J; Wilkinson, J E; Ives, K A; Xu, Z

    2011-04-01

    Currently available fetal intervention techniques rely on invasive procedures that carry inherent risks. A non-invasive technique for fetal intervention could potentially reduce the risk of fetal and obstetric complications. Pulsed cavitational ultrasound therapy (histotripsy) is an ablation technique that mechanically fractionates tissue at the focal region using extracorporeal ultrasound. In this study, we investigated the feasibility of using histotripsy as a non-invasive approach to fetal intervention in a sheep model. The experiments involved 11 gravid sheep at 102-129 days of gestation. Fetal kidney, liver, lung and heart were exposed to ultrasound pulses (bones. Histological assessment confirmed lesion locations and sizes corresponding to regions where cavitation was monitored, with no lesions found when cavitation was absent. Inability to generate cavitation was primarily associated with increased depth to target and obstructing structures such as fetal limbs. Extracorporeal histotripsy therapy successfully created targeted lesions in fetal sheep organs without significant damage to overlying structures. With further improvements, histotripsy may evolve into a viable technique for non-invasive fetal intervention procedures. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.

  14. Fetal blood drawing.

    Science.gov (United States)

    Hobbins, J C; Mahoney, M J

    1975-07-19

    A small sample of fetal blood suitable for studies of haemoglobin synthesis was obtained from a placental vessel under endoscopic visualisation in 23 of 26 patients in whom the procedure was attempted prior to second-trimester abortion. Fetal blood loss, calculated in 23 cases, was between 0-2 ml. and 2-5 ml., and fetal blood-volume depletion varied from 0-5% to 15%. No short-term ill-effects were demonstrated in mother or fetus in any of 16 patients in whom the injection of aborti-facient was postponed for between 16 and 24 hours after the procedure.

  15. Primary antiphospholipid antibody syndrome with adrenal hemorrhage in a child : a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Dong Hun; Lee, Soo Hyun; Kim, Hyun Joo; Yoo, Han Wook; Yoon, Chong Hyun [Ulsan Univ. College of Medicine, Seoul (Korea, Republic of)

    1999-11-01

    Primary antiphospholipid antibody syndrome is a disease that is clinically diagnosed if a patient suffers recurrent thromboses, stroke, recurrent fetal loss, livedo reticularis, and thrombocytopenia, without evidence of systemic lupus erythematosus or other connective diseases. Adrenal hemorrhage in a patient with primary antiphospholipid antibody syndrome is a rarely recognized, but potentially catastrophic disorder. We recently encountered bilateral adrenal hemorrhaging in a child with antiphospholipid antibody syndrome and casem as well as reviewing the literature.

  16. Primary antiphospholipid antibody syndrome with adrenal hemorrhage in a child : a case report

    International Nuclear Information System (INIS)

    Kim, Dong Hun; Lee, Soo Hyun; Kim, Hyun Joo; Yoo, Han Wook; Yoon, Chong Hyun

    1999-01-01

    Primary antiphospholipid antibody syndrome is a disease that is clinically diagnosed if a patient suffers recurrent thromboses, stroke, recurrent fetal loss, livedo reticularis, and thrombocytopenia, without evidence of systemic lupus erythematosus or other connective diseases. Adrenal hemorrhage in a patient with primary antiphospholipid antibody syndrome is a rarely recognized, but potentially catastrophic disorder. We recently encountered bilateral adrenal hemorrhaging in a child with antiphospholipid antibody syndrome and casem as well as reviewing the literature

  17. Fetal and neonatal thyrotoxicosis

    Science.gov (United States)

    Batra, Chandar Mohan

    2013-01-01

    Fetal thyrotoxicosis is a rare disease occurring in 1 out of 70 pregnancies with Grave's disease or in 1 out of 4000-50,000 deliveries. The mortality is 12-20%, usually from heart failure, but other complications are tracheal compression, infections and thrombocytopenia. It results from transfer of thyroid stimulating immunoglobulins from mother to fetus through the placenta. This transplacental transfer begins around 20th week of pregnancy and reaches its maximum by 30th week. These autoantibodies bind to the fetal thyroid stimulating hormone (TSH) receptors and increase the secretion of the thyroid hormones. The mother has an active autoimmune thyroid disease or has been treated for it in the past. She may be absolutely euthyroid due to past treatment by drugs, surgery or radioiodine ablation, but still have active TSH receptor stimulating autoantibodies, which can cause fetal thyrotoxicosis. The other features of this disease are fetal tachycardia, fetal goiter and history of spontaneous abortions and findings of goiter, ascites, craniosyntosis, fetal growth retardation, maceration and hydrops at fetal autopsy. If untreated, this disease can result in intrauterine death. The treatment for this disease consists of giving carbimazole to the mother, which is transferred through the placenta to the fetus. The dose of carbimazole is titrated with the fetal heart rate. If the mother becomes hypothyroid due to carbimazole, thyroxine is added taking advantage of the fact that very little of thyroxine is transferred across the placenta. Neonatal thyrotoxicosis patients are very sick and require emergency treatment. The goal of the treatment is to normalize thyroid functions as quickly as possible, to avoid iatrogenic hypothyroidism while providing management and supportive therapy for the infant's specific signs and symptoms. PMID:24251220

  18. Fetal MRI of pathological brain development; Fetale MRT der pathologischen Hirnentwicklung

    Energy Technology Data Exchange (ETDEWEB)

    Brugger, P.C. [Medizinische Universitaet Wien (Austria). Arbeitsgruppe Integrative Morphologie, Zentrum fuer Anatomie und Zellbiologie; Prayer, D. [Medizinische Universitaet Wien (Austria). Klinik fuer Radiodiagnostik

    2006-02-15

    Because of the superior tissue contrast, high spatial resolution, and multiplanar capabilities, fetal magnetic resonance imaging (MRI) can depict fetal brain pathologies with high accuracy. Pathological fetal brain development may result from malformations or acquired conditions. Differentiation of these etiologies is important with respect to managing the actual pregnancy or counseling future pregnancies. As a widened ventricular system is a common hallmark of both maldevelopment and acquired conditions, it may cause problems in the differential diagnosis. Fetal MRI can provide detailed morphological information, which allows refinement of the diagnosis of ventricular enlargement in a large number of cases. Systematic work-up of morphological details that may be recognized on MR images provides an approach for achieving a correct diagnosis in cases of ventricle enlargement. (orig.) [German] Aufgrund des hervorragenden Gewebekontrastes, der hohen raeumlichen Aufloesung und multiplanaren Moeglichkeiten erlaubt die fetale Magnetresonanztomographie (MRT) eine detaillierte Darstellung fetaler Hirnpathologien. Eine pathologische Hirnentwicklung kann sowohl auf Fehlbildungen als auch waehrend der Schwangerschaft erworbenen Stoerungen beruhen. Nachdem die weiteren Konsequenzen fuer die bestehende, aber auch fuer folgende Schwangerschaften zu einem grossen Teil von einer Differenzierung dieser Aetiologien abhaengig sein kann, ist ein Erkennen der jeweiligen Pathologie wesentlich. Die morphologische Praesentation erworbener und fehlbildungsbedingter Veraenderungen auf MR-Bildern ist u. U. sehr aehnlich. Besondere differenzialdiagnostische Probleme bereitet dabei das Vorliegen eines erweiterten Ventrikelsystems, das als Symptom unterschiedlichster Veraenderungen vorliegen kann. Anhand einer systematischen Darstellung mittels MR-erfassbarer morphologischer Details wird eine Anleitung gegeben, bei Bestehen dieses Leitsymptoms zu einer moeglichst genauen Diagnose zu kommen

  19. Antithyroid drug-induced fetal goitrous hypothyroidism

    DEFF Research Database (Denmark)

    Bliddal, Sofie; Rasmussen, Ase Krogh; Sundberg, Karin

    2011-01-01

    Maternal overtreatment with antithyroid drugs can induce fetal goitrous hypothyroidism. This condition can have a critical effect on pregnancy outcome, as well as on fetal growth and neurological development. The purpose of this Review is to clarify if and how fetal goitrous hypothyroidism can...... be prevented, and how to react when prevention has failed. Understanding the importance of pregnancy-related changes in maternal thyroid status when treating a pregnant woman is crucial to preventing fetal goitrous hypothyroidism. Maternal levels of free T(4) are the most consistent indication of maternal...... and fetal thyroid status. In patients with fetal goitrous hypothyroidism, intra-amniotic levothyroxine injections improve fetal outcome. The best way to avoid maternal overtreatment with antithyroid drugs is to monitor closely the maternal thyroid status, especially estimates of free T(4) levels....

  20. [Fetal and early trauma syndrome-FETS].

    Science.gov (United States)

    Zoroastro, Gastón A

    2006-01-01

    This is a new clinical description for cases of children whose parents are among those who have disappeared and were given birth by women held prisoners and subjected to torture, humiliation and abuses. This description is considered a special case of early, and in many cases fetal distress. These children felt horror when they were violently separated from their parents immediately after being born in captivity or in early infancy during the last military dictatorship (1976-1983). Afterwards they were sold by their captors and raised as adoptive or as their own children by the purchasers. The fact that these cases be included in the existing WHO categories contained in CIE-10: Posttraumatic stress disorder, F43.1, is discussed as they show late responses on the part of the victims to situations of torture, terrorism and rape. However, it is clarified that cases in which the aftereffects of severe stress become evident after decades will have to be classified as Persistent personality disorders, after catastrophic experience, F62.0. It is concluded that it is necessary to consider FETS as a new combination of manifestations of the Persistent Personality Disorders due to its specific idiosyncratic characteristics that go beyond the available clinical descriptions, to its own etiophatic equation and to its recognizable pathognomonic identification. Its pathognomonic identification in some cases was useful to detect children with these alienated identity problems (understood as legally neglected and clinically alienated). Propedeutic and treatment aspects are mentioned in conjunction with the peculiarities of a therapy that restores the illegally deprived personality of these children, who nowadays are adults of approximately 25 to 29 years of age. Finally, a metapsychologic discussion is presented, which is about the resilience of the truth and the fact that when it is rejected it returns, thus constituting ethics of the truth.

  1. Advances in prenatal screening for Down syndrome: II first trimester testing, integrated testing, and future directions.

    Science.gov (United States)

    Benn, Peter A

    2002-10-01

    The acceptability of prenatal screening and diagnosis of Down syndrome is dependent, in part, on the gestational age at which the testing is offered. First trimester screening could be advantageous if it has sufficient efficacy and can be effectively delivered. Two first trimester maternal serum screening markers, pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotropin (beta-hCG), are useful for identifying women at increased risk for fetal Down syndrome. In addition, measurement of an enlarged thickness of the subcutaneous fluid-filled space at the back of the neck of the developing fetus (referred to as nuchal translucency or NT) has been demonstrated to be an indicator for these high-risk pregnancies. When these three parameters are combined, estimates for Down syndrome efficacy exceed those currently attainable in the second trimester. Women who are screen-positive in the first trimester can elect to receive cytogenetic testing of a chorionic villus biopsy. The first trimester tests could also, theoretically, be combined with the second trimester maternal serum screening tests (integrated screening) to obtain even higher levels of efficacy. There are, however, several practical limitations to first trimester and integrated screening. These include scheduling of testing within relatively narrow gestational age intervals, availability of appropriately trained ultrasonographers for NT measurement, risks associated with chorionic villus biopsy, and costs. There is also increasing evidence that an enlarged NT measurement is indicative of a high risk for spontaneous abortion and for fetal abnormalities that are not detectable by cytogenetic analysis. Women whose fetuses show enlarged NT, therefore, need first trimester counseling regarding their Down syndrome risks and the possibility of other adverse pregnancy outcomes. Follow-up ultrasound and fetal echocardiography in the second trimester are also indicated. First trimester

  2. Programación fetal de la hipertensión arterial del adulto: mecanismos celulares y moleculares Fetal programming of adult arterial hypertension: cellular and molecular mechanisms

    Directory of Open Access Journals (Sweden)

    Robinson Ramírez

    2013-02-01

    Full Text Available Cambios metabólicos in utero establecen patrones fisiológicos y estructurales a largo plazo que pueden "programar" la salud durante la vida adulta, teoría popularmente conocida como "hipótesis de Barker". La programación fetal implica que durante los períodos críticos del crecimiento prenatal, ciertos cambios en el entorno hormonal y nutricional del embrión, pueden alterar la expresión del genoma fetal, en tejidos con funciones fisiológicas y metabólicas en la etapa adulta. La evidencia sugiere que patologías como enfermedad vascular (por ejemplo, hipertensión, síndrome metabólico y diabetes mellitus tipo 2, pueden "programarse" durante las primeras etapas del desarrollo fetal y manifestarse en etapas tardías, al interactuar con el estilo de vida y otros factores de riesgo adquiridos convencionales con el medio ambiente. El objetivo de esta revisión es presentar evidencia adicional que apoye la asociación entre el bajo peso al nacer, con el aumento en la prevalencia de la hipertensión arterial en la edad adulta. Se revisan la función endotelial, el estrés oxidativo, la resistencia a la insulina y la función mitocondrial, como posibles mecanismos celulares y moleculares.Metabolic changes in utero establish long-term physiological and structural patterns which can "program" health in adulthood, theory popularly known as "Barker hypothesis". The fetal programming implies that during critical periods of prenatal growth, some changes in hormonal and nutritional environment of the embryo can alter fetal genome expression in tissues with physiological and metabolic functions in adulthood. Evidence suggests that pathologies like vascular disease (eg, hypertension, metabolic syndrome and type 2 diabetes mellitus, may "be programmed" during the early stages of fetal development and manifest in later stages, when interacting with lifestyle and other conventional acquired risk factors with the environment. The aim of this review is to

  3. MR evaluation of fetal demise

    International Nuclear Information System (INIS)

    Victoria, Teresa; Chauvin, Nancy Anne; Johnson, Ann M.; Kramer, Sandra Sue; Epelman, Monica; Capilla, Elena

    2011-01-01

    Fetal demise is an uncommon event encountered at MR imaging. When it occurs, recognition by the interpreting radiologist is important to initiate appropriate patient management. To identify MR findings of fetal demise. Following IRB approval, a retrospective search of the radiology fetal MR database was conducted searching the words ''fetal demise'' and ''fetal death.'' Fetuses with obvious maceration or no sonographic confirmation of death were excluded. Eleven cases formed the study group. These were matched randomly to live fetuses of similar gestational age. Images were reviewed independently by three pediatric radiologists. The deceased fetus demonstrates decreased MR soft-tissue contrast and definition of tissue planes, including loss of gray-white matter differentiation in the brain. The signal within the cardiac chambers, when visible, is bright on HASTE sequences from the stagnant blood; the heart is small. Pleural effusions and decreased lung volumes may be seen. Interestingly, the fetal orbits lose their anatomical round shape and become smaller and more elliptical; a dark, irregular rim resembling a mask may be seen. Although fetal demise is uncommonly encountered at MR imaging, radiologists should be aware of such imaging findings so prompt management can be instituted. (orig.)

  4. 21 CFR 884.2900 - Fetal stethoscope.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Fetal stethoscope. 884.2900 Section 884.2900 Food... Fetal stethoscope. (a) Identification. A fetal stethoscope is a device used for listening to fetal heart... conventional stethoscopes. (b) Classification. Class I (general controls). The device is exempt from the...

  5. Perfil de habilidades de comunicação de dois irmãos com a Síndrome Alcoólica Fetal Communicative profile in two siblings with Fetal Alcohol Syndrome

    Directory of Open Access Journals (Sweden)

    Roberta Garcia

    2007-12-01

    Full Text Available OBJETIVO: caracterizar o perfil de habilidades de comunicação e o desempenho nos subtestes do Teste Illinois de Habilidades Psicolingüísticas (ITPA de dois irmãos com diagnóstico da Síndrome Alcoólica Fetal (SAF: S1, sexo feminino, 16 anos e S2, sexo masculino, 8 anos, alunos de escola especial. MÉTODOS: realizou-se a avaliação fonoaudiológica clínica, complementada pela aplicação do ITPA. RESULTADOS: dados de avaliação clínica com S1 mostraram prejuízo grave de compreensão oral, não sendo capaz de seguir instruções (verbal e gestual simples. Também não se observou uso de recursos gestuais ou orais, por parte da mesma para se comunicar. Devido ao nível de comprometimento, não foi possível obter dados relativos aos desempenhos amostrados no ITPA. Dados de avaliação clínica com S2 mostraram resultados bastante diferentes. S2 utiliza preferencialmente a fala para se comunicar, responde perguntas, mantendo o tema e é capaz de seguir instruções verbais simples. Entretanto, observou-se desempenho inferior ao esperado para idade em situações que requeriam narrativa de fatos e eventos, indicando prejuízos em aspectos sintáticos e semânticos da linguagem. No ITPA obteve pontuação inferior a idade cronológica em quase todos os subtestes. O pior desempenho foi observado nos subtestes que envolviam habilidades perceptivas auditivas. CONCLUSÕES: esses resultados indicam que, apesar de ambos terem o mesmo diagnóstico genético e viverem sob as mesmas condições familiares, o perfil fonoaudiológico difere. Pode-se especular que prejuízos mais graves em habilidades comunicativas de S1 podem estar relacionados a níveis mais elevados de exposição ao álcool durante etapas críticas do desenvolvimento fetal.PURPOSE: to characterize the communication profile and the performance in the subtests of Illinois Test of Psycholinguistic Abilities (ITPA of two siblings with Fetal Alcohol syndrome (FAS: S1, female 16 years

  6. Autistic Traits in Women with Polycystic Ovary Syndrome

    Science.gov (United States)

    Herguner, Sabri; Harmanci, Hatice; Hergner, Arzu; Toy, Harun

    2012-01-01

    Several studies suggested that prenatal androgen exposure might contribute to development of polycystic ovary syndrome (PCOS). The androgen theory of autism proposes that autism spectrum conditions (ASC) are in part due to elevated fetal testosterone levels. Furthermore, higher rates of androgen-related conditions including PCOS are reported in…

  7. Fetal liver iron overload: the role of MR imaging

    International Nuclear Information System (INIS)

    Cassart, Marie; Avni, Freddy Efraim; Guibaud, Laurent; Molho, Marc; D'Haene, Nicky; Paupe, Alain

    2011-01-01

    To assess the potential role of MR imaging in the diagnosis of fetal liver iron overload. We reviewed seven cases of abnormal liver signal in fetuses referred to MR imaging in a context of suspected congenital infection (n = 2), digestive tract anomalies (n = 3) and hydrops fetalis (n = 2). The average GA of the fetuses was 31 weeks. The antenatal diagnoses were compared with histological data (n = 6) and postnatal work-up (n = 1). Magnetic resonance imaging demonstrated unexpected abnormal fetal liver signal suggestive of iron overload in all cases. The iron overload was confirmed on postnatal biopsy (n = 2) and fetopathology (n = 4). The final diagnosis was hepatic hemosiderosis (haemolytic anaemia (n = 2) and syndromal anomalies (n = 2)) and congenital haemochromatosis (n = 3). In all cases, the liver appeared normal on US. Magnetic resonance is the only imaging technique able to demonstrate liver iron overload in utero. Yet, the study outlines the fundamental role of MR imaging in cases of congenital haemochromatosis. The antenatal diagnosis of such a condition may prompt ante - (in the case of recurrence) or neonatal treatment, which might improve the prognosis. (orig.)

  8. Fetal liver iron overload: the role of MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Cassart, Marie; Avni, Freddy Efraim [Erasme Hospital, Medical imaging, Brussels, Brabant (Belgium); Guibaud, Laurent [Hopital femme mere enfant, Imagerie Pediatrique et Foetale, Lyon-Bron (France); Molho, Marc [C.H.I Poissy/St Germain-en-Laye, Imagerie Medicale, Poissy (France); D' Haene, Nicky [Erasme Hospital, Anatomopathology Department, Brussels (Belgium); Paupe, Alain [C.H.I Poissy/St Germain-en-Laye, Pediatrie, Poissy (France)

    2011-02-15

    To assess the potential role of MR imaging in the diagnosis of fetal liver iron overload. We reviewed seven cases of abnormal liver signal in fetuses referred to MR imaging in a context of suspected congenital infection (n = 2), digestive tract anomalies (n = 3) and hydrops fetalis (n = 2). The average GA of the fetuses was 31 weeks. The antenatal diagnoses were compared with histological data (n = 6) and postnatal work-up (n = 1). Magnetic resonance imaging demonstrated unexpected abnormal fetal liver signal suggestive of iron overload in all cases. The iron overload was confirmed on postnatal biopsy (n = 2) and fetopathology (n = 4). The final diagnosis was hepatic hemosiderosis (haemolytic anaemia (n = 2) and syndromal anomalies (n = 2)) and congenital haemochromatosis (n = 3). In all cases, the liver appeared normal on US. Magnetic resonance is the only imaging technique able to demonstrate liver iron overload in utero. Yet, the study outlines the fundamental role of MR imaging in cases of congenital haemochromatosis. The antenatal diagnosis of such a condition may prompt ante - (in the case of recurrence) or neonatal treatment, which might improve the prognosis. (orig.)

  9. The Polish National Registry for Fetal Cardiac Pathology: organization, diagnoses, management, educational aspects and telemedicine endeavors.

    Science.gov (United States)

    Slodki, Maciej; Szymkiewicz-Dangel, Joanna; Tobota, Zdzislaw; Seligman, Neil S; Weiner, Stuart; Respondek-Liberska, Maria

    2012-05-01

    We describe the National Registry for Fetal Cardiac Pathology, a program under the Polish Ministry of Health aimed at improving the prenatal diagnosis, care, and management of congenital heart disease (CHD). An online database was created to prospectively record diagnosis, prenatal care, delivery, follow-up, and still images and video for fetuses with CHD. A certification program in fetal cardiac ultrasound was also implemented. Optimal screening and referral centers were identified by number of fetuses entered in the Registry yearly by each center. From 2004 to 2009, 2910 fetuses with CHD were registered (2473 structural, 437 functional anomalies). The most common reasons for referral for fetal echocardiography were abnormal four-chamber view (56.0%) and extra-cardiac anomalies (8.2% ), while the most common diagnoses were atrioventricular septal defects (10.2%) and hypoplastic left heart syndrome (9.7%). Prenatal diagnosis increased yearly, from 10.0% of neonatal diagnoses in 2003 to 38.0% in 2008. From inception of the registry up to 2009 there has been a fourfold increase in the number of neonates referred for cardiac surgery in whom the condition was prenatally diagnosed. Equally important achievements include the establishment of a certification program for fetal echocardiography and the organization of prenatal and neonatal management. © 2012 John Wiley & Sons, Ltd.

  10. First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan.

    Science.gov (United States)

    Wagner, P; Sonek, J; Hoopmann, M; Abele, H; Kagan, K O

    2016-10-01

    To examine the performance of first-trimester ultrasound screening for trisomies 18 and 13, triploidy and Turner syndrome based on fetal nuchal translucency thickness (NT), additional fetal ultrasound markers including anatomy of the nasal bone (NB), blood flow across the tricuspid valve (TV) and through the ductus venosus (DV) and a detailed fetal anomaly scan at 11-13 weeks' gestation. This was a retrospective case-matched study involving pregnant women at 11-13 weeks' gestation. The study population consisted of fetuses with trisomy 18, trisomy 13, triploidy or Turner syndrome. For each fetus with an abnormal karyotype, 50 randomly selected euploid fetuses were added to the study population. In all cases, the crown-rump length and NT were measured. In addition NB, TV flow and DV flow were examined. The summed risk for trisomies 21, 18 and 13 was computed based on: first, maternal age (MA); second, MA and fetal NT; third, MA, NT and one of the markers NB, TV flow or DV flow; fourth, MA, NT and all these markers combined; fifth, MA, NT and fetal anomalies; and, finally, MA, NT, all markers and fetal anomalies. The study population consisted of 4550 euploid and 91 aneuploid fetuses. Median NT was 1.8 mm in euploid fetuses and 4.8, 6.8, 1.8 and 10.0 mm in fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome, respectively. The NB, TV flow and DV flow were abnormal in 48 (1.1%), 34 (0.7%) and 99 (2.2%) euploid fetuses, respectively, and in 42 (46.2%), 31 (34.1%) and 62 (68.1%) aneuploid fetuses, respectively. At least one defect was found in 60 (1.3%) euploid and in 76 (83.5%) aneuploid fetuses. For a false-positive rate of 3%, the detection rate for screening based on MA and fetal NT was 75.8%. It increased to 84.6-86.8% when including one of the additional ultrasound markers and it was 90.1% when all three markers were included. When screening was based on MA, fetal NT and a detailed anomaly scan, the detection rate was 94.5% and increased to 95

  11. Sexually dimorphic effects of maternal nutrient reduction on expression of genes regulating cortisol metabolism in fetal baboon adipose and liver tissues.

    Science.gov (United States)

    Guo, Chunming; Li, Cun; Myatt, Leslie; Nathanielsz, Peter W; Sun, Kang

    2013-04-01

    Maternal nutrient reduction (MNR) during fetal development may predispose offspring to chronic disease later in life. Increased regeneration of active glucocorticoids by 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) in metabolic tissues is fundamental to the developmental programming of metabolic syndrome, but underlying mechanisms are unknown. Hexose-6-phosphate dehydrogenase (H6PD) generates NADPH, the cofactor for 11β-HSD1 reductase activity. CCAAT/enhancer binding proteins (C/EBPs) and the glucocorticoid receptor (GR) regulate 11β-HSD1 expression. We hypothesize that MNR increases expression of fetal C/EBPs, GR, and H6PD, thereby increasing expression of 11β-HSD1 and reductase activity in fetal liver and adipose tissues. Pregnant MNR baboons ate 70% of what controls ate from 0.16 to 0.9 gestation (term, 184 days). Cortisol levels in maternal and fetal circulations increased in MNR pregnancies at 0.9 gestation. MNR increased expression of 11β-HSD1; H6PD; C/EBPα, -β, -γ; and GR in female but not male perirenal adipose tissue and in male but not female liver at 0.9 gestation. Local cortisol level and its targets PEPCK1 and PPARγ increased correspondingly in adipose and liver tissues. C/EBPα and GR were found to be bound to the 11β-HSD1 promoter. In conclusion, sex- and tissue-specific increases of 11β-HSD1, H6PD, GR, and C/EBPs may contribute to sexual dimorphism in the programming of exaggerated cortisol regeneration in liver and adipose tissues and offsprings' susceptibility to metabolic syndrome.

  12. Complementary role of magnetic resonance imaging in the study of the fetal urinary system.

    Science.gov (United States)

    Gómez Huertas, M; Culiañez Casas, M; Molina García, F S; Carrillo Badillo, M P; Pastor Pons, E

    2016-01-01

    Urinary system birth defects represent the abnormality most often detected in prenatal studies, accounting for 30% to 50% of all structural anomalies present at birth. The most common disorders are urinary tract dilation, developmental variants, cystic kidney diseases, kidney tumors, and bladder defects. These anomalies can present in isolation or in association with various syndromes. They are normally evaluated with sonography, and the use of magnetic resonance imaging (MRI) is considered only in inconclusive cases. In this article, we show the potential of fetal MRI as a technique to complement sonography in the study of fetal urinary system anomalies. We show the additional information that MRI can provide in each entity, especially in the evaluation of kidney function through diffusion-weighted sequences. Copyright © 2016 SERAM. Published by Elsevier España, S.L.U. All rights reserved.

  13. Case report: heavy metal burden presenting as Bartter syndrome.

    Science.gov (United States)

    Crinnion, Walter J; Tran, Jessica Q

    2010-12-01

    Maternal transfer of heavy metals during fetal development or lactation possibly contributed to the clinical manifestations of Bartter syndrome and developmental delay in the offspring. An 11-month-old child diagnosed with Bartter syndrome and failure to thrive was treated concurrently for elevated metal burden while he was undergoing standard medical interventions. Treatment with body-weight doses of meso-2,3-dimercaptosuccinic acid (DMSA) reduced the body burden of lead, beryllium, copper, mercury, and cadmium at the three- and sixth-month follow-up tests. During the course of the six-month treatment, the patient gained 2.4 kg (5.2 lb) and grew approximately 9.5 cm (3.75 in). His weight shifted from significantly below the 5th percentile in weight to within the 5th percentile, and from below the 5th to within the 10th percentile for length. The child's acquisition of lead, beryllium, and copper correspond to his mother's history of stained glass assembly and occurred during fetal development or lactation, since there were no other identifiable sources that could have contributed to the heavy metal burden. Tests for known genetic mutations leading to Bartter syndrome were all negative. This case report highlights the potential benefit of DMSA for treatment of heavy metal body burden in infants who present with Bartter syndrome.

  14. Value of fetal skeletal radiographs in the diagnosis of fetal death

    International Nuclear Information System (INIS)

    Bourliere-Najean, B.; Russel, A.S.; Petit, P.; Devred, P.; Panuel, M.; Piercecchi-Marti, M.D.; Fredouille, C.; Sigaudy, S.; Philip, N.

    2003-01-01

    The aim of this study was to assess the value of fetal skeletal radiographs in determining the etiology of fetal death. A total of 1193 post-mortem fetal skeletal radiographs were analysed. Fetuses were classified into one of three groups (group I: abnormality diagnosed during pregnancy; group II: maternal pathology; group III: spontaneous abortion of pregnancy, IIIa before 26 weeks of gestation (WG), IIIb after 26 weeks of gestation). Face, supine and lateral skeletal views were performed. Skeletal abnormalities were detected in 33.9% of the fetuses, including 22.7% with minor abnormalities (abnormal rib number, no nasal bone ossification, amesophalangia or P2 hypoplasia of the fifth digit) and 14.5% with major abnormalities (other skeletal abnormalities). Among the fetuses with major abnormalities, 98.8% came from group I, 2.9% came from group II, 2.3% came from group IIIa and none came from group IIIb. Fetal skeletal radiographs are not useful in fetuses arising from spontaneous abortion of pregnancy without abnormality on ultrasound screening, abnormality clinical examination or in fetuses with prenatal diagnosis of chromosomal abnormality. This practice is valuable only if there is a multidisciplinary team, with all the participants (pathologists, radiologists, geneticists) knowledgeable about fetal pathology. In the absence of this multidisciplinary approach, it is easier to X-ray all fetuses to avoid misdiagnosis and the important consequences for genetic counselling. (orig.)

  15. Value of fetal skeletal radiographs in the diagnosis of fetal death

    Energy Technology Data Exchange (ETDEWEB)

    Bourliere-Najean, B.; Russel, A.S.; Petit, P.; Devred, P. [Department of Pediatric Radiology, CHU Timone, 264 rue St. Pierre, 13385 Marseille cedex 5 (France); Panuel, M. [Department of Radiology, Hopital Nord, chemin Bourrelys, 13915 Marseille cedex 20 (France); Piercecchi-Marti, M.D.; Fredouille, C. [Department of Pathology, CHU Timone, 264 rue St. Pierre, 13385 Marseille cedex 5 (France); Sigaudy, S.; Philip, N. [Department of Genetics, CHU Timone, 264 rue St. Pierre, 13385 Marseille cedex 5 (France)

    2003-05-01

    The aim of this study was to assess the value of fetal skeletal radiographs in determining the etiology of fetal death. A total of 1193 post-mortem fetal skeletal radiographs were analysed. Fetuses were classified into one of three groups (group I: abnormality diagnosed during pregnancy; group II: maternal pathology; group III: spontaneous abortion of pregnancy, IIIa before 26 weeks of gestation (WG), IIIb after 26 weeks of gestation). Face, supine and lateral skeletal views were performed. Skeletal abnormalities were detected in 33.9% of the fetuses, including 22.7% with minor abnormalities (abnormal rib number, no nasal bone ossification, amesophalangia or P2 hypoplasia of the fifth digit) and 14.5% with major abnormalities (other skeletal abnormalities). Among the fetuses with major abnormalities, 98.8% came from group I, 2.9% came from group II, 2.3% came from group IIIa and none came from group IIIb. Fetal skeletal radiographs are not useful in fetuses arising from spontaneous abortion of pregnancy without abnormality on ultrasound screening, abnormality clinical examination or in fetuses with prenatal diagnosis of chromosomal abnormality. This practice is valuable only if there is a multidisciplinary team, with all the participants (pathologists, radiologists, geneticists) knowledgeable about fetal pathology. In the absence of this multidisciplinary approach, it is easier to X-ray all fetuses to avoid misdiagnosis and the important consequences for genetic counselling. (orig.)

  16. Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype

    NARCIS (Netherlands)

    Bakker, M.; Pajkrt, E.; Mathijssen, I. B.; Bilardo, C. M.

    2011-01-01

    OBJECTIVE: To define sonographic criteria that may improve the prenatal diagnosis of Noonan syndrome by targeted DNA testing. METHODS: We searched our Fetal Medicine Unit records for all cases with a final diagnosis of Noonan syndrome. A literature review was undertaken to identify the sonographic

  17. Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype

    NARCIS (Netherlands)

    Bakker, Merel; Pajkrt, E.; Mathijssen, I. B.; Bilardo, C. M.

    Objective To define sonographic criteria that may improve the prenatal diagnosis of Noonan syndrome by targeted DNA testing. Methods We searched our Fetal Medicine Unit records for all cases with a final diagnosis of Noonan syndrome. A literature review was undertaken to identify the sonographic

  18. Significance of lung anomalies in fetuses affected by tetralogy of Fallot with absent pulmonary valve syndrome.

    Science.gov (United States)

    Tenisch, Estelle; Raboisson, Marie-Josée; Rypens, Françoise; Déry, Julie; Grignon, Andrée; Lapierre, Chantale

    2017-11-01

    Tetralogy of Fallot with absent pulmonary valve syndrome is a rare form of tetralogy of Fallot with dilatation of large pulmonary arteries. Prognosis is related to the severity of the cardiac malformation and to bronchial tree compression by dilated pulmonary arteries. This study analyses the prenatal echographic lung appearance in fetuses with tetralogy of Fallot with absent pulmonary valve and discusses its significance. We carried out a retrospective review of fetal and postnatal files of nine fetuses diagnosed with tetralogy of Fallot with absent pulmonary valve syndrome in our institution. Correlations of prenatal ultrasound and cardiac imaging findings were obtained with outcome. Abnormal heterogeneous fetal lung echogenicity was detected in eight cases out of nine, always associated with significant lobar arterial dilatation. This aspect was well correlated with postnatal imaging and outcome in the four neonatal cases. The only fetus with normal lung echogenicity also had lower degree of pulmonary artery dilatation in the series. This study demonstrates that a heterogeneous ultrasound appearance of the fetal lungs can be detected in utero in the most severe cases. This aspect suggests an already significant compression of the fetal bronchial tree by the dilated arteries that may have prognostic implications.

  19. Epigenetic regulation and fetal programming.

    Science.gov (United States)

    Gicquel, Christine; El-Osta, Assam; Le Bouc, Yves

    2008-02-01

    Fetal programming encompasses the role of developmental plasticity in response to environmental and nutritional signals during early life and its potential adverse consequences (risk of cardiovascular, metabolic and behavioural diseases) in later life. The first studies in this field highlighted an association between poor fetal growth and chronic adult diseases. However, environmental signals during early life may lead to adverse long-term effects independently of obvious effects on fetal growth. Adverse long-term effects reflect a mismatch between early (fetal and neonatal) environmental conditions and the conditions that the individual will confront later in life. The mechanisms underlying this risk remain unclear. However, experimental data in rodents and recent observations in humans suggest that epigenetic changes in regulatory genes and growth-related genes play a significant role in fetal programming. Improvements in our understanding of the biochemical and molecular mechanisms at play in fetal programming would make it possible to identify biomarkers for detecting infants at high risk of adult-onset diseases. Such improvements should also lead to the development of preventive and therapeutic strategies.

  20. Fetal pancreatic beta-cell function in pregnancies complicated by maternal diabetes mellitus: relationship to fetal acidemia and macrosomia.

    Science.gov (United States)

    Salvesen, D R; Brudenell, J M; Proudler, A J; Crook, D; Nicolaides, K H

    1993-05-01

    Our purpose was to investigate the relationship between fetal pancreatic beta-cell function and fetal acidemia and macrosomia in pregnancies complicated by maternal diabetes mellitus. A cross-sectional study at the Harris Birthright Research Centre for Fetal Medicine, London, was performed. In 32 pregnancies complicated by maternal diabetes mellitus cordocentesis was performed at 36 to 39 weeks' gestation for the measurement of umbilical venous blood pH, PO2, PCO2, lactate, and glucose concentration; plasma insulin immunoreactivity; and insulin/glucose ratio. A reference range for plasma insulin and insulin/glucose ratio was constructed by studying fetal blood samples from 80 women who did not have diabetes mellitus. Mean umbilical venous blood pH was significantly lower and plasma insulin immunoreactivity and insulin/glucose ratio were significantly higher than the appropriate normal mean for gestation. There were significant associations between (1) maternal and fetal blood glucose concentrations (r = 0.95, p < 0.0001), (2) fetal blood glucose and plasma insulin immunoreactivity (r = 0.57, p < 0.01), (3) fetal plasma insulin immunoreactivity and blood pH (r = -0.39, p < 0.05), and (4) fetal insulin/glucose ratio and degree of macrosomia (r = 0.76, p < 0.0001). Fetal pancreatic beta-cell hyperplasia is implicated in the pathogenesis of both fetal acidemia and macrosomia.

  1. Al-Awadi/Raas-Rothschild Syndrome in a Newborn with Additional Anomalies

    Science.gov (United States)

    Alp, Esma; Atabek, Mehmet Emre; Pirgon, Özgür

    2010-01-01

    Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia. Autosomal recessive inheritance has been proposed for AARR syndrome. In this report a boy affected with AARR syndrome is presented. The previous pregnancy of the mother was terminated because of lower limb agenesis detected at 14th week of gestation. This report emphasizes the importance of recognizing severe pelvic and limb deficiencies in newborns with AARR syndrome and differentiating the syndrome from other multiple malformation syndromes. Fetal ultrasonography at 15th week of gestation is helpful in diagnosing the major extremity anomalies in the fetus. Conflict of interest:None declared. PMID:21274338

  2. Fetal magnetic resonance imaging of thoracic and abdominal malformations; Fetale Magnetresonanztomographie thorakaler und abdomineller Malformationen

    Energy Technology Data Exchange (ETDEWEB)

    Woitek, R.; Asenbaum, U.; Furtner, J.; Prayer, D. [Medizinische Universitaet Wien, Abteilung fuer Neuroradiologie und Muskuloskelettale Radiologie, Universitaetsklinik fuer Radiodiagnostik, Wien (Austria); Brugger, P.C. [Medizinische Universitaet Wien, Zentrum fuer Anatomie und Zellbiologie, Wien (Austria)

    2013-02-15

    Diagnosis and differential diagnosis of fetal thoracic and abdominal malformations. Ultrasound and magnetic resonance imaging (MRI). In cases of suspected pathologies based on fetal ultrasound MRI can be used for more detailed examinations and can be of assistance in the differential diagnostic process. Improved imaging of anatomical structures and of the composition of different tissues by the use of different MRI sequences. Fetal MRI has become a part of clinical routine in thoracic and abdominal malformations and is the basis for scientific research in this field. In cases of thoracic or abdominal malformations fetal MRI provides important information additional to ultrasound to improve diagnostic accuracy, prognostic evaluation and surgical planning. (orig.) [German] Diagnose und Differenzialdiagnose fetaler thorakaler und abdomineller Malformationen. Ultraschall, MRT. MRT zur weiteren Abklaerung und genaueren Differenzierung bei vielen im Ultraschall gestellten Verdachtsdiagnosen. Verbesserte anatomische Darstellung mittels MRT und Darstellung unterschiedlicher Gewebezusammensetzung mittels verschiedener MR-Sequenzen. Die fetale MRT ist bei der angegebenen Fragestellung in die klinische Routine eingegangen und liefert weiterhin die Basis fuer wissenschaftliche Untersuchungen in diesem Bereich. Die fetale MRT liefert beim Vorliegen thorakaler oder abdomineller Malformationen komplementaer zum Ultraschall wichtige Zusatzinformationen, um die diagnostische Genauigkeit zu erhoehen, die Prognoseabschaetzung zu verbessern und ggf. eine bessere chirurgische Planung zu ermoeglichen. (orig.)

  3. Frecuencia cardiaca y movimientos fetales posterior a la administracion de betametasona para maduración pulmonar fetal

    Directory of Open Access Journals (Sweden)

    Yolima Ruiz Lopez

    2013-05-01

    Full Text Available El objetivo de la investigación fue demostrar las modificaciones de la frecuencia cardiaca y los movimientos fetales producidas por la administración de betametasona para maduración pulmonar fetal. Se realizó una investigación de tipo explicativa, prospectiva y longitudinal con un diseño cuasi-experimental y una muestra no probabilística de 106 gestantes entre 24 y 34 semanas, con diagnóstico de amenaza de parto pretérmino tratadas con betametasona (12 mg intramuscular cada 24 horas por dos dosis que acudieron al Hospital Central “Dr. Urquinaona”. Se evaluaron los movimientos fetales y frecuencia cardiaca materna y fetal. No se encontraron diferencias significativas en la frecuencia cardiaca materna comparado con los valores iniciales (p = ns. Se observó que el valor inicial de la frecuencia cardiaca fetal fue de 135,1±9,7 latidos por minuto para aumentar luego a 137,2±8,9 latidos por minuto (p = ns para presentar un nuevo aumento hasta (142,9±9,9 latidos por minuto que fue significativo comparado con los valores iniciales (p < 0,05. Se observó una disminución significativa de movimientos fetales medidos en 30 minutos después de la primera inyección (23,1±6,0 movimientos comparado con 14,8±7,0 movimientos, para aumentar después de la segunda inyección pero aun presentando valores significativamente más bajos comparado con los valores iniciales (20,0 ±6,7 movimientos; p < 0,05. Se concluye que la administración de betametasona para maduración pulmonar fetal produce incremento significativo en la frecuencia cardiaca y reducción marcada de los movimientos fetales. Abstract Fetal heart rate and movements after betamethasone administration for fetal lung maturity The objective of research was to demonstrate fetal heart rate and movements modifications by the use of betamethasone for fetal lung maturity. An explicative, prospective and longitudinal research was done with a quasi-experimental design and a non

  4. [FETAL PROGRAMMING OF METABOLIC DISORDERS].

    Science.gov (United States)

    Varadinova, M R; Metodieva, R; Boyadzhieva, N

    2015-01-01

    Our knowledge of fetal programming has developed notably over the years and recent data suggest that an unbalanced diet prior and during pregnancy can have early-onset and long-lasting consequences on the health of the offspring. Specific negative influences of high dietary glucose and lipid consumption, as well as undernutrition, are associated with development of metabolic syndrome, insulin resistance and diabetes in the offspring. The mechanisms underlying the effects of maternal hyperglycemia on the fetus may involve structural, metabolic and epigenetic changes. The aim of this review is to illustrate how adverse intrauterine environment may influence molecular modifications in the fetus and cause epigenetic alterations in particular. It has been demonstrated that prenatal epigenetic modifications may be linked to the pathogenesis and progression of the adult chronic disorders. Studies on epigenetic alterations will contribute to a better understanding of the long-term effects of in utero exposure and may open new perspectives for disease prevention and treatment.

  5. Chromosome 11-linked determinant controls fetal globin expression and the fetal-to-adult globin switch

    International Nuclear Information System (INIS)

    Melis, M.; Demopulos, G.; Najfeld, V.; Zhang, J.W.; Brice, M.; Papayannopoulou, T.; Stamatoyannopoulos, G.

    1987-01-01

    Hybrids formed by fusing mouse erythroleukemia (MEL) cells with human fetal erythroid cells produce human fetal globin, but they switch to adult globin production as culture time advances. To obtain information on the chromosomal assignment of the elements that control γ-to-β switching, the authors analyzed the chromosomal composition of hybrids producing exclusively or predominantly human fetal globin and hybrids producing only adult human globin. No human chromosome was consistently present in hybrids expressing fetal globin and consistently absent in hybrids expressing adult globin. Subcloning experiments demonstrated identical chromosomal compositions in subclones displaying the fetal globin program and those that had switched to expression of the adult globin program. These data indicate that retention of only one human chromosome -- i.e., chromosome 11 -- is sufficient for expression of human fetal globin and the subsequent γ-to-β switch. The results suggest that the γ-to-β switch is controlled either cis to the β-globin locus of by a trans-acting mechanism, the genes of which reside on human chromosome 11

  6. Triploidia fetal associada à diminuição da subunidade beta e do estriol não-conjugado no soro materno Fetal triploidy associated with low levels of unconjugated estriol and beta-subunit in maternal serum

    Directory of Open Access Journals (Sweden)

    Eduardo Vieira Neto

    1999-05-01

    Full Text Available Relatamos um caso de triploidia fetal não-molar detectada na 20ª semana gestacional por cordocentese realizada em razão de estudo ultra-sonográfico que revelou retardo do crescimento intra-uterino e grave oligoidrâmnio. Na 19ª semana foram verificados acentuada diminuição da subunidade beta livre da gonadotrofina coriônica humana e do estriol não-conjugado e níveis de alfa-fetoproteína normais, apontando para um risco aumentado de síndrome de Edwards. Houve morte fetal um dia após a cordocentese e a resolução do caso foi por parto vaginal induzido com misoprostol e ocitocina, sob analgesia peridural. Estudo cromossômico das células sangüíneas fetais revelou o cariótipo 69,XXX. O grave retardo do crescimento intra-uterino, a macrocefalia, constatada no estudo anatomopatológico do feto, e os níveis muito baixos de hCG e de estriol não-conjugado sugerem um caso de triploidia por diginia, fertilização de um óvulo diplóide por um espermatozóide haplóide.We report a case of nonmolar fetal triploidy detected by fetal blood sampling at 20 weeks of gestation, performed as an investigation of intrauterine growth retardation and severe oligohydramnios found by ultrasound scan. At 19 weeks of gestation very low levels of maternal free serum beta-subunit of human chorionic gonadotropin and unconjugated estriol, and normal levels of alpha-fetoprotein were found, which were interpreted as a high risk of fetal Edwards syndrome. Fetal death supervened the day after fetal blood sampling, and the pregnancy was terminated by vaginal delivery induced by misoprostol and oxytocin, under epidural anesthesia. Chromosome study of the fetal blood cells showed a 69,XXX karyotype. The severe intrauterine growth retardation and macrocephaly noted on pathological review plus the very low levels of hCG and unconjugated estriol suggest a fetal gynoid triploidy case, caused by the fertilization of a diploid egg by a haploid sperm.

  7. Adiponectin supplementation in pregnant mice prevents the adverse effects of maternal obesity on placental function and fetal growth.

    Science.gov (United States)

    Aye, Irving L M H; Rosario, Fredrick J; Powell, Theresa L; Jansson, Thomas

    2015-10-13

    Mothers with obesity or gestational diabetes mellitus have low circulating levels of adiponectin (ADN) and frequently deliver large babies with increased fat mass, who are susceptible to perinatal complications and to development of metabolic syndrome later in life. It is currently unknown if the inverse correlation between maternal ADN and fetal growth reflects a cause-and-effect relationship. We tested the hypothesis that ADN supplementation in obese pregnant dams improves maternal insulin sensitivity, restores normal placental insulin/mechanistic target of rapamycin complex 1 (mTORC1) signaling and nutrient transport, and prevents fetal overgrowth. Compared with dams on a control diet, female C57BL/6J mice fed an obesogenic diet before mating and throughout gestation had increased fasting serum leptin, insulin, and C-peptide, and reduced high-molecular-weight ADN at embryonic day (E) 18.5. Placental insulin and mTORC1 signaling was activated, peroxisome proliferator-activated receptor-α (PPARα) phosphorylation was reduced, placental transport of glucose and amino acids in vivo was increased, and fetal weights were 29% higher in obese dams. Maternal ADN infusion in obese dams from E14.5 to E18.5 normalized maternal insulin sensitivity, placental insulin/mTORC1 and PPARα signaling, nutrient transport, and fetal growth without affecting maternal fat mass. Using a mouse model with striking similarities to obese pregnant women, we demonstrate that ADN functions as an endocrine link between maternal adipose tissue and fetal growth by regulating placental function. Importantly, maternal ADN supplementation reversed the adverse effects of maternal obesity on placental function and fetal growth. Improving maternal ADN levels may serve as an effective intervention strategy to prevent fetal overgrowth caused by maternal obesity.

  8. Noonan syndrome: a clinical and genetic study of 31 patients

    Directory of Open Access Journals (Sweden)

    Bertola Débora Romeo

    1999-01-01

    Full Text Available Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%; craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%; cardiac anomalies (65%, and fetal pads in fingers and toes (70%. After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

  9. Fetal Echocardiography/Your Unborn Baby's Heart

    Science.gov (United States)

    ... Artery Disease Venous Thromboembolism Aortic Aneurysm More Fetal Echocardiography / Your Unborn Baby's Heart Updated:Oct 6,2016 ... Your Risk • Symptoms & Diagnosis Introduction Common Tests Fetal Echocardiography/Your Unborn Baby's Heart - Fetal Echocardiogram Test - Detection ...

  10. Sheep models of polycystic ovary syndrome phenotype

    Science.gov (United States)

    Veiga-Lopez, Almudena

    2012-01-01

    Polycystic ovary syndrome (PCOS) is a fertility disorder affecting 5–7% of reproductive-aged women. Women with PCOS manifest both reproductive and metabolic defects. Several animal models have evolved, which implicate excess steroid exposure during fetal life in the development of the PCOS phenotype. This review addresses the fetal and adult reproductive and metabolic consequences of prenatal steroid excess in sheep and the translational relevance of these findings to PCOS. By comparing findings in various breeds of sheep, the review targets the role of genetic susceptibility to fetal insults. Disruptions induced by prenatal testosterone excess are evident at both the reproductive and metabolic level with each influencing the other thus creating a self-perpetuating vicious cycle. The review highlights the need for identifying a common mediator of the dysfunctions at the reproductive and metabolic levels and developing prevention and treatment interventions targeting all sites of disruption in unison for achieving optimal success. PMID:23084976

  11. Sonographic features of lethal multiple pterygium syndrome at 14 weeks.

    Science.gov (United States)

    Chen, Min; Chan, Gavin Shueng Wai; Lee, Chin Peng; Tang, Mary Hoi Yin

    2005-06-01

    Lethal multiple pterygium syndrome is a rare inherited disorder. Previous reports suggest that the diagnosis may be based on prenatal sonographic demonstration of severe limb flexion, absence of fetal motion, and a large cystic hygroma in the second and third trimesters. We present the sonographic features and postmortem features of a fetus with lethal multiple pterygium syndrome at 13 weeks of gestation, which shows that the condition can possibly be diagnosed in the first trimester of pregnancy.

  12. Maternal hemodynamics, fetal biometry and Dopplers in pregnancies followed up for suspected fetal growth restriction.

    Science.gov (United States)

    Roberts, Llinos A; Ling, Hua Zen; Poon, Liona; Nicolaides, Kypros H; Kametas, Nikos A

    2018-04-01

    To assess whether in a cohort of patients with small for gestational age (SGA) foetuses with estimated fetal weight ≤10 th percentile, maternal hemodynamics, fetal biometry and Dopplers at presentation, can predict the subsequent development of abnormal fetal Dopplers or delivery with birthweight Cheetah), mean arterial pressure, fetal biometry, umbilical artery (UA), middle cerebral artery (MCA) and uterine artery (UT) pulsatility index (PI) and the deepest vertical pool (DVP) of amniotic fluid. Z-scores of these variables were calculated based on reported reference ranges and the values were compared between those with evidence of abnormal fetal Dopplers at presentation (group 1), those that developed abnormal Dopplers in subsequent visits (group 2) and those who did not develop abnormal Dopplers throughout pregnancy (group 3). Abnormal fetal Dopplers were defined as UAPI >95 th percentile, or MCA PI <5 th percentile. Differences in measured variables at presentation were also compared between pregnancies delivering a baby with birthweight <3 rd and ≥3 rd percentile. Multivariate logistic regression analysis was used to determine significant predictors of birthweight <3 rd percentile and evolution from normal fetal Dopplers to abnormal fetal Dopplers in groups 2 and 3. In the study population 14 (16%) cases were in group 1, 19 (22%) in group 2 and 53 (62%) in group 3. The birthweight was <3 rd percentile in 39 (45%) cases and ≥3 rd percentile in 47 (55%). In the study groups, compared to normal populations, there was decreased cardiac output and stroke volume and increased peripheral vascular resistance and mean arterial pressure (MAP) and the deviations from normal were most marked in group 1. Pregnancies with a birthweight <3 rd , compared to those ≥3 rd percentile, had higher deviations from normal in fetal biometry, maternal cardiac output, stroke volume, heart rate and peripheral vascular resistance and UT-PI. Multivariate logistic regression

  13. Nelson's syndrome in pregnancy

    International Nuclear Information System (INIS)

    Surrey, E.S.; Chang, R.J.

    1985-01-01

    The therapeutic considerations in the management of Nelson's syndrome in a 29 year old primigravida are described. CT scans revealed a 2-cm solid pituitary lesion with suprasellar extension and chiasmatic encroachment. A transsphenoidal hypophysectomy was performed to remove a eosinophilic pituitary adenoma. The patient's symptoms improved following surgery. Fetal growth was followed by ultrasound and a female infant was delivered by cesarean section. Follow-up CT scan 2 weeks after delivery revealed no evidence of tumor recurrence

  14. Prenatal Sonographic Findings of Polysplenic Syndrome

    International Nuclear Information System (INIS)

    Yoo, Jeong Hyun; Suh, Jeong Soo; Lee, Young Ho

    2004-01-01

    We report 6 cases of polysplenic syndrome diagnosed on prenatal sonography. The mean menstrual age at the time of presentation was 275 weeks (range 184 to 38 weeks). All cases were examined using level-II prenatal sonography. The sonographic findings of polysplenic syndrome were retrograde analyzed and compared to the autopsy or postnatal findings. Polysplenia was detected in 5 cases on the prenatal sonography. Associated cardiovascular anomalies were detected in all 6 cases, all of which had more than one anomaly, namely complete atrioventricular septal defect in two cases, double outlet right ventricle combined with rudimentary LV or mitral atresia in two cases and VSD and ASD in one case each. There were three cases of interrupted IVC with azygous continuation of the posterior thorax. Bradycardia was observed in 2 cases, one of which showed AV dissociation of rhythm. Visceral abnormalities were present in all cases and there were combined anomalies such as echogenic bowel, pelviectasia, horseshoe kidney, and posterior neck cystic hygroma and fetal hydrops. Four cases terminated pregnancy. The autopsy results of 2 cases were comparable to those of the prenatal sonography, however autopsies were not performed in 2 cases. One fetus near term was delivered and the baby subsequently underwent heart surgery and was still alive at the last follow-up. The remaining one case was lost to follow-up. If multiple fetal anomalies, including complex heart disease and polysplenia, are detected in the prenatal sonography, a diagnosis of polysplenic syndrome can be made. IVC interruption with azygous continuation can also be helpful in the diagnosis of polysplenic syndrome, and this can be observed by detecting the double vessel of the posterior thorax

  15. Digital atlas of fetal brain MRI.

    Science.gov (United States)

    Chapman, Teresa; Matesan, Manuela; Weinberger, Ed; Bulas, Dorothy I

    2010-02-01

    Fetal MRI can be performed in the second and third trimesters. During this time, the fetal brain undergoes profound structural changes. Interpretation of appropriate development might require comparison with normal age-based models. Consultation of a hard-copy atlas is limited by the inability to compare multiple ages simultaneously. To provide images of normal fetal brains from weeks 18 through 37 in a digital format that can be reviewed interactively. This will facilitate recognition of abnormal brain development. T2-W images for the atlas were obtained from fetal MR studies of normal brains scanned for other indications from 2005 to 2007. Images were oriented in standard axial, coronal and sagittal projections, with laterality established by situs. Gestational age was determined by last menstrual period, earliest US measurements and sonogram performed on the same day as the MR. The software program used for viewing the atlas, written in C#, permits linked scrolling and resizing the images. Simultaneous comparison of varying gestational ages is permissible. Fetal brain images across gestational ages 18 to 37 weeks are provided as an interactive digital atlas and are available for free download from http://radiology.seattlechildrens.org/teaching/fetal_brain . Improved interpretation of fetal brain abnormalities can be facilitated by the use of digital atlas cataloging of the normal changes throughout fetal development. Here we provide a description of the atlas and a discussion of normal fetal brain development.

  16. Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (I

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2008-03-01

    Full Text Available Fetuses with neural tube defects (NTDs maybe associated with syndromes, disorders, and maternal risk factors. This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as acrocallosal syndrome, autosomal dominant brachydactyly-clinodactyly syndrome, Manouvrier syndrome, short rib-polydactyly syndrome, Disorganization (Ds-like human malformations, isolated hemihyper-plasia, X-linked NTDs, meroanencephaly, schisis association, diprosopus, fetal valproate syndrome, DiGeorge syndrome/velocardiofacial syndrome, Waardenburg syndrome, folic acid antagonists, diabetes mellitus, and obesity. NTDs associated with syndromes, disorders, and maternal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders, and maternal risk factors may be different from those of non-syndromic multifactorial NTDs. Perinatal identification of NTDs should alert one to the syndromes, disorders, and maternal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling.

  17. Syndromes, disorders and maternal risk factors associated with neural tube defects (I).

    Science.gov (United States)

    Chen, Chih-Ping

    2008-03-01

    Fetuses with neural tube defects (NTDs) may be associated with syndromes, disorders, and maternal risk factors. This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as acrocallosal syndrome, autosomal dominant brachydactyly-clinodactyly syndrome, Manouvrier syndrome, short rib-polydactyly syndrome, Disorganization ( Ds )-like human malformations, isolated hemihyperplasia, X-linked NTDs, meroanencephaly, schisis association, diprosopus, fetal valproate syndrome, DiGeorge syndrome/velocardiofacial syndrome, Waardenburg syndrome, folic acid antagonists, diabetes mellitus, and obesity. NTDs associated with syndromes, disorders, and maternal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders, and maternal risk factors may be different from those of non-syndromic multifactorial NTDs. Perinatal identification of NTDs should alert one to the syndromes, disorders, and maternal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling.

  18. Maternal protein-energy malnutrition during early pregnancy in sheep impacts the fetal ornithine cycle to reduce fetal kidney microvascular development.

    Science.gov (United States)

    Dunford, Louise J; Sinclair, Kevin D; Kwong, Wing Y; Sturrock, Craig; Clifford, Bethan L; Giles, Tom C; Gardner, David S

    2014-11-01

    This paper identifies a common nutritional pathway relating maternal through to fetal protein-energy malnutrition (PEM) and compromised fetal kidney development. Thirty-one twin-bearing sheep were fed either a control (n=15) or low-protein diet (n=16, 17 vs. 8.7 g crude protein/MJ metabolizable energy) from d 0 to 65 gestation (term, ∼ 145 d). Effects on the maternal and fetal nutritional environment were characterized by sampling blood and amniotic fluid. Kidney development was characterized by histology, immunohistochemistry, vascular corrosion casts, and molecular biology. PEM had little measureable effect on maternal and fetal macronutrient balance (glucose, total protein, total amino acids, and lactate were unaffected) or on fetal growth. PEM decreased maternal and fetal urea concentration, which blunted fetal ornithine availability and affected fetal hepatic polyamine production. For the first time in a large animal model, we associated these nutritional effects with reduced micro- but not macrovascular development in the fetal kidney. Maternal PEM specifically impacts the fetal ornithine cycle, affecting cellular polyamine metabolism and microvascular development of the fetal kidney, effects that likely underpin programming of kidney development and function by a maternal low protein diet. © FASEB.

  19. Baller-Gerold syndrome: Further evidence for association with prenatal exposure to valproate

    Directory of Open Access Journals (Sweden)

    Iype Mary

    2008-01-01

    Full Text Available Baller Gerold Syndrome (BGS is a rare autosomal recessive disorder that is apparent at birth. The disorder is characterized by distinctive malformations of the skull and facial area and bones of the forearms and hands. We are reporting a new case of BGS in a 10-month-old female child born of an epileptic mother who was on sodium valproate during the initial months of pregnancy. The baby was born with premature closure of the metopic suture, unilateral radial aplasia with limb malformation and other congenital anomalies that conformed with the description of BGS. The parents and other family members were unaffected, karyotyping was normal and there was no history of consanguinity. Fetal valproate exposure has been previously reported as the cause of this fetal malformation syndrome, which is generally inherited as an autosomal recessive trait. The peculiar pregnancy history and the supporting literature on the effects of valproic acid on the fetus exposed in utero to it with numerous case reports in the literature referring to BGS as a result of fetal exposure to valproate made us conclude that this is indeed a case of BGS secondary to valproate-induced teratogenesis.

  20. Nephrotic syndrome and Obstetric anesthesia

    Directory of Open Access Journals (Sweden)

    Vijay Kumar Nagpal

    2017-01-01

    Full Text Available Renal disorders in pregnancy can be both difficult to diagnose and manage. They are associated with poor maternal and/or fetal outcomes. In pregnancy, proteinuria is common and can range from mild urinary protein elevations to nephrotic levels. The diagnosis of nephrotic syndrome (NS can be challenging, especially in pregnancy as it can be confused with preeclampsia. NS has an incidence of 0.012%–0.025% in pregnant women. It is diagnosed by the presence of more than 3 g/day of proteins in urine, serum albumin <30 g/dL, generalized edema, hypercholesterolemia, and lipiduria. Proteinuria with hypertension is characterized by the presence of hematuria, red cell casts, raised serum creatinine, and features suggestive of systemic disease. Other causes of proteinuria include preeclampsia, diabetes mellitus (Type 1 and Type 2, Immunoglobulin A nephropathy (Ig A glomerulonephritis, focal and segmental glomerulosclerosis, and lupus nephritis. The maternal risks of NS include acute kidney insult, chronic renal failure, gestational hypertension, preeclampsia, and complications due to hypoalbuminemia. Fetal considerations in NS include fetal growth retardation, prematurity, stillbirth, fetal anasarca, and polyhydramnios. Preconception counseling and immunosuppressive drug therapy can improve overall fetomaternal outcome. We hereby present a unique case of successful anesthetic management of NS in a parturient along with concurrent hypothyroidism and hypertension, for elective cesarean section.

  1. Major congenital anomalies in babies born with Down syndrome

    DEFF Research Database (Denmark)

    Morris, Joan K; Garne, Ester; Wellesley, Diana

    2014-01-01

    Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed...... to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down...... syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were...

  2. Accounting for Fetal Origins

    DEFF Research Database (Denmark)

    Dalgaard, Carl-Johan Lars; Hansen, Casper Worm; Strulik, Holger

    2017-01-01

    The Fetal Origins hypothesis has received considerable empirical support, both within epidemiology and economics. The present study compares the ability of two rival theoretical frameworks in accounting for the kind of path dependence implied by the Fetal Origins Hypothesis. We argue that while...

  3. Anti-E Alloimmunization: A Rare Cause of Severe Fetal Hemolytic Disease Resulting in Pregnancy Loss

    Directory of Open Access Journals (Sweden)

    An-Shine Chao

    2009-01-01

    Full Text Available We report a case of severe intrauterine hemolysis caused by sole anti-E alloimmunization. A 36-year-old multipara woman presented with hydrops fetalis at 27 weeks of gestation. She had a history of previous neonatal death. In this pregnancy, she was found to have very high titer of anti-E antibody. Ultrasonography detected marked skin edema, cardiomegaly, hepatosplenomegaly, pleural effusion, ascites, placentomegaly, and polyhydramnios. The Doppler peak systolic velocity in the middle cerebral artery was 0.8 m/s, indicating severe fetal anemia. Multiple intrauterine transfusions for the anemic fetus were administered. However, persistent severe fetal anemia and placentomegaly caused poor neonatal death and mirror syndrome in the mother. Uncommon red blood cell alloimmunization has to be watched for early in any population, especially in a woman with a history of unexplained perinatal loss.

  4. DNA methylome profiling of maternal peripheral blood and placentas reveal potential fetal DNA markers for non-invasive prenatal testing.

    Science.gov (United States)

    Xiang, Yuqian; Zhang, Junyu; Li, Qiaoli; Zhou, Xinyao; Wang, Teng; Xu, Mingqing; Xia, Shihui; Xing, Qinghe; Wang, Lei; He, Lin; Zhao, Xinzhi

    2014-09-01

    Utilizing epigenetic (DNA methylation) differences to differentiate between maternal peripheral blood (PBL) and fetal (placental) DNA has been a promising strategy for non-invasive prenatal testing (NIPT). However, the differentially methylated regions (DMRs) have yet to be fully ascertained. In the present study, we performed genome-wide comparative methylome analysis between maternal PBL and placental DNA from pregnancies of first trimester by methylated DNA immunoprecipitation-sequencing (MeDIP-Seq) and Infinium HumanMethylation450 BeadChip assays. A total of 36 931 DMRs and 45 804 differentially methylated sites (DMSs) covering the whole genome, exclusive of the Y chromosome, were identified via MeDIP-Seq and Infinium 450k array, respectively, of which 3759 sites in 2188 regions were confirmed by both methods. Not only did we find the previously reported potential fetal DNA markers in our identified DMRs/DMSs but also we verified fully the identified DMRs/DMSs in the validation round by MassARRAY EpiTYPER. The screened potential fetal DNA markers may be used for NIPT on aneuploidies and other chromosomal diseases, such as cri du chat syndrome and velo-cardio-facial syndrome. In addition, these potential markers may have application in the early diagnosis of placental dysfunction, such as pre-eclampsia. © The Author 2014. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  5. The number of fetal cells in maternal blood is associated to exercise and fetal gender

    DEFF Research Database (Denmark)

    Schlütter, Jacob Mørup; Kirkegaard, Ida; Christensen, Connie Britta

    Introduction: We have established a robust method to specifically identify and isolate a placental fetal cell in maternal blood (fcmbs) at a gestational age of 12 weeks. The concentration of these cells, however, varies considerably among pregnant women (median 3 fcmbs/30 mL blood, range 0...... activity was obtained by a questionnaire and a structured interview. The number of fcmbs was assessed in 30 mL blood processed by a proprietary method developed in-house. Fetal cells in the blood, binding to fetal cell specific antibodies, were initially isolated by magnetic cell sorting. The fetal cells...... vs. 4, p=0.06) decreased the number of fcmbs, whereas coitus the evening before increased the number (4 vs. 3, p=0.11). Conclusion: The number of fcmbs is affected by normal activities. This should be taken into account when planning collection of fetal cells in connection for prenatal diagnosis...

  6. Fetal response to maternal hunger and satiation - novel finding from a qualitative descriptive study of maternal perception of fetal movements.

    Science.gov (United States)

    Bradford, Billie; Maude, Robyn

    2014-08-26

    Maternal perception of decreased fetal movements is a specific indicator of fetal compromise, notably in the context of poor fetal growth. There is currently no agreed numerical definition of decreased fetal movements, with the subjective perception of a decrease on the part of the mother being the most significant definition clinically. Both qualitative and quantitative aspects of fetal activity may be important in identifying the compromised fetus.Yet, how pregnant women perceive and describe fetal activity is under-investigated by qualitative means. The aim of this study was to explore normal fetal activity, through first-hand descriptive accounts by pregnant women. Using qualitative descriptive methodology, interviews were conducted with 19 low-risk women experiencing their first pregnancy, at two timepoints in their third trimester. Interview transcripts were later analysed using qualitative content analysis and patterns of fetal activity identified were then considered along-side the characteristics of the women and their birth outcomes. This paper focuses on a novel finding; the description by pregnant women of fetal behaviour indicative of hunger and satiation. Full findings will be presented in later papers. Most participants (74% 14 of 19) indicated mealtimes were a time of increased fetal activity. Eight participants provided detailed descriptions of increased activity around meals, with seven (37% 7 of 19) of these specifying increased fetal activity prior to meals or in the context of their own hunger. These movements were interpreted as a fetal demand for food often prompting the mother to eat. Interestingly, the women who described increased fetal activity in the context of hunger subsequently gave birth to smaller infants (mean difference 364 gm) than those who did not describe a fetal response to hunger. Food seeking behaviour may have a pre-birth origin. Maternal-fetal interaction around mealtimes could constitute an endocrine mediated

  7. Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results.

    Science.gov (United States)

    Zhen, Li; Fan, Shu-Shu; Huang, Lv-Yin; Pan, Min; Han, Jin; Yang, Xin; Li, Dong-Zhi

    2018-03-31

    To present the experience on prenatal diagnosis of Wolf-Hirschhorn syndrome (WHS) to further delineate the fetal presentation of this syndrome. This was a retrospective analysis of ten pregnancies with fetal WHS identified by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes. Three cases were diagnosed at the first trimester because of an increased NT or cystic hygroma. The remaining seven cases were identified at late gestation for abnormal ultrasound findings. CMA revealed 4p deletions to be terminal in all of the ten cases. Deletion sizes ranged from 2.05 to 19.02 Mb. Prenatal findings such as increased NT, severe and early onset intrauterine growth retardation, and renal dysplasia or oligohydramnios should warrant the diagnosis of WHS and invasive testing using CMA. Copyright © 2018 Elsevier B.V. All rights reserved.

  8. [Clinical study of 12 cases with obstetric mirror syndrome].

    Science.gov (United States)

    Wu, Lin-lin; Wang, Chen-hong; Li, Zhi-quan

    2012-03-01

    To discuss the clinical features, management, pregnancy outcome and prognosis of obstetric mirror syndrome. The clinical data of 12 cases with obstetric mirror syndrome at Shenzhen Maternity and Child Healthcare Hospital from April 2008 to December 2010 were collected to retrospectively analyze the clinical features, management, pregnancy outcome and prognosis. (1) ETIOLOGY: 12 cases with obstetric mirror syndrome included 9 cases of Bart's hydrops fetalis, 2 cases with fetal complicated congenital cardiac anomalies, and 1 case of unknown etiology. (2) Gestational age at diagnosis and at delivery: gestational age at diagnosis ranged from 28 to 36 weeks [mean (31.5 ± 4.7) weeks], and gestational age at delivery ranged from 28(+3) to 38 weeks [mean (32.9 ± 2.9) weeks]. There were no significant differences between the gestational age at diagnosis and at delivery in consistence with severe preeclampsia group and mild preeclampsia group [(31.8 ± 2.3) weeks vs. (30.9 ± 7.2) weeks, (32.5 ± 2.3) weeks vs. (33.5 ± 3.9) weeks, P > 0.05]. (3) The patients with obstetric mirror syndrome can present a preeclampsia-like syndrome: maternal extremity edema in 12 cases, headache and visual disturbance in 1 case, proteinuria in 11 cases, elevated blood pressure in 5 cases, elevated uric acid in 9 cases, hypoproteinemia in 12 cases, elevated creatinine in 3 case, elevated liver enzyme in 1 case, thrombocytopenia in 2 cases. The major complications included 1 case of HELLP syndrome, acute pulmonary edema, placental abruption, amnionic fluid embolism, DIC respectively, 3 cases of acute kidney failure and 6 cases of postpartum hemorrhage. (4) Sonographic findings: 1) Hydrops fetalis: fetal ultrasound revealed pleural fluid, fetal ascites, skin edema, scalp edema, encephalocolele enlargement, hydropericardium and increased cardio-chest ratio. 2) Placenta megaly: the placental pathological examination revealed edematous and large in 12 cases. Placental thickness was beyond 4 cm in

  9. Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature

    NARCIS (Netherlands)

    Milosavljević, Doris; Overwater, Eline; Tamminga, Saskia; de Boer, Karin; Elting, Mariet W.; van Hoorn, Marion E.; Rinne, Tuula; Houweling, Arjan C.

    2016-01-01

    Mutations in RIT1, involved in the RAS-MAPK pathway, have recently been identified as a cause for Noonan syndrome. We present two patients with Noonan syndrome caused by a RIT1 mutation with novel phenotypic manifestations, severe bilateral lower limb lymphedema starting during puberty, and fetal

  10. Digital atlas of fetal brain MRI

    Energy Technology Data Exchange (ETDEWEB)

    Chapman, Teresa; Weinberger, E. [Department of Radiology, Seattle Children' s Hospital, Seattle, WA (United States); Matesan, Manuela [University of Washington, Department of Radiology, Seattle, WA (United States); Bulas, Dorothy I. [Division of Diagnostic Imaging and Radiology, Children' s National Medical Center, Washington, DC (United States)

    2010-02-15

    Fetal MRI can be performed in the second and third trimesters. During this time, the fetal brain undergoes profound structural changes. Interpretation of appropriate development might require comparison with normal age-based models. Consultation of a hard-copy atlas is limited by the inability to compare multiple ages simultaneously. To provide images of normal fetal brains from weeks 18 through 37 in a digital format that can be reviewed interactively. This will facilitate recognition of abnormal brain development. T2-W images for the atlas were obtained from fetal MR studies of normal brains scanned for other indications from 2005 to 2007. Images were oriented in standard axial, coronal and sagittal projections, with laterality established by situs. Gestational age was determined by last menstrual period, earliest US measurements and sonogram performed on the same day as the MR. The software program used for viewing the atlas, written in C, permits linked scrolling and resizing the images. Simultaneous comparison of varying gestational ages is permissible. Fetal brain images across gestational ages 18 to 37 weeks are provided as an interactive digital atlas and are available for free download. Improved interpretation of fetal brain abnormalities can be facilitated by the use of digital atlas cataloging of the normal changes throughout fetal development. Here we provide a description of the atlas and a discussion of normal fetal brain development. (orig.)

  11. Digital atlas of fetal brain MRI

    International Nuclear Information System (INIS)

    Chapman, Teresa; Weinberger, E.; Matesan, Manuela; Bulas, Dorothy I.

    2010-01-01

    Fetal MRI can be performed in the second and third trimesters. During this time, the fetal brain undergoes profound structural changes. Interpretation of appropriate development might require comparison with normal age-based models. Consultation of a hard-copy atlas is limited by the inability to compare multiple ages simultaneously. To provide images of normal fetal brains from weeks 18 through 37 in a digital format that can be reviewed interactively. This will facilitate recognition of abnormal brain development. T2-W images for the atlas were obtained from fetal MR studies of normal brains scanned for other indications from 2005 to 2007. Images were oriented in standard axial, coronal and sagittal projections, with laterality established by situs. Gestational age was determined by last menstrual period, earliest US measurements and sonogram performed on the same day as the MR. The software program used for viewing the atlas, written in C, permits linked scrolling and resizing the images. Simultaneous comparison of varying gestational ages is permissible. Fetal brain images across gestational ages 18 to 37 weeks are provided as an interactive digital atlas and are available for free download. Improved interpretation of fetal brain abnormalities can be facilitated by the use of digital atlas cataloging of the normal changes throughout fetal development. Here we provide a description of the atlas and a discussion of normal fetal brain development. (orig.)

  12. MRI of the fetal spine

    Energy Technology Data Exchange (ETDEWEB)

    Simon, Erin M. [Departement of Radiology, Children' s Hospital of Philadelphia, PA (United States)

    2004-09-01

    Magnetic resonance imaging of the fetal spine is a vital complement to fetal sonographic examination. Assessing the wide spectrum of spinal dysraphism, as well as spinal neoplasia, allows for more correct prenatal diagnoses, patient care planning, and patient counselling. Proper appraisal of the value of experimental procedures, such as fetal myelomeningocoele repair, requires a high level of diagnostic accuracy for the selection and follow-up of appropriate candidates. (orig.)

  13. MRI of the fetal spine

    International Nuclear Information System (INIS)

    Simon, Erin M.

    2004-01-01

    Magnetic resonance imaging of the fetal spine is a vital complement to fetal sonographic examination. Assessing the wide spectrum of spinal dysraphism, as well as spinal neoplasia, allows for more correct prenatal diagnoses, patient care planning, and patient counselling. Proper appraisal of the value of experimental procedures, such as fetal myelomeningocoele repair, requires a high level of diagnostic accuracy for the selection and follow-up of appropriate candidates. (orig.)

  14. Thrombophilic disorders and fetal loss: a meta-analysis.

    Science.gov (United States)

    Rey, Evelyne; Kahn, Susan R; David, Michèle; Shrier, Ian

    2003-03-15

    Our aim was to assess the strength of the controversial association between thrombophilia and fetal loss, and to examine whether it varies according to the timing or definition of fetal loss. We searched Medline and Current Contents for articles published between 1975 and 2002 and their references with terms denoting recurrent fetal and non-recurrent fetal loss combined with various thrombophilic disorders. We included in our meta-analysis case-control, cohort, and cross-sectional studies published in English, the methodological quality of which was rated as moderate or strong. Pooled odds ratios (OR) with 95% CI were generated by random effects models with Cochrane Review Manager software. We included 31 studies. Factor V Leiden was associated with early (OR 2.01, 95% CI 1.13-3.58) and late (7.83, 2.83-21.67) recurrent fetal loss, and late non-recurrent fetal loss (3.26, 1.82-5.83). Exclusion of women with other pathologies that could explain fetal loss strengthened the association between Factor V Leiden and recurrent fetal loss. Activated protein C resistance was associated with early recurrent fetal loss (3.48, 1.58-7.69), and prothrombin G20210A mutation with early recurrent (2.56, 1.04-.29) and late non-recurrent (2.30, 1.09-4.87) fetal loss. Protein S deficiency was associated with recurrent fetal loss (14.72, 0.99-218.01) and late non-recurrent fetal loss (7.39, 1.28-42.63). Methylenetetrahydrofolate mutation, protein C, and antithrombin deficiencies were not significantly associated with fetal loss. The magnitude of the association between thrombophilia and fetal loss varies, according to type of fetal loss and type of thrombophilia.

  15. Fetal MRI: techniques and protocols

    International Nuclear Information System (INIS)

    Prayer, Daniela; Brugger, Peter Christian; Prayer, Lucas

    2004-01-01

    The development of ultrafast sequences has led to a significant improvement in fetal MRI. Imaging protocols have to be adjusted to the rapidly developing fetal central nervous system (CNS) and to the clinical question. Sequence parameters must be changed to cope with the respective developmental stage, to produce images free from motion artefacts and to provide optimum visualization of the region and focus of interest. In contrast to postnatal studies, every suspect fetal CNS abnormality requires examination of the whole fetus and the extrafetal intrauterine structures including the uterus. This approach covers both aspects of fetal CNS disorders: isolated and complex malformations and cerebral lesions arising from the impaired integrity of the feto-placental unit. (orig.)

  16. Fetal MRI: techniques and protocols

    Energy Technology Data Exchange (ETDEWEB)

    Prayer, Daniela [Department of Neuroradiology, University Clinics of Radiodiagnostics, Medical University Vienna, Waehringerguertel 18-10, 1090, Vienna (Austria); Brugger, Peter Christian [Department of Anatomy, Integrative Morphology Group, Medical University Vienna (Austria); Prayer, Lucas [Diagnosezentrum Urania, Vienna (Austria)

    2004-09-01

    The development of ultrafast sequences has led to a significant improvement in fetal MRI. Imaging protocols have to be adjusted to the rapidly developing fetal central nervous system (CNS) and to the clinical question. Sequence parameters must be changed to cope with the respective developmental stage, to produce images free from motion artefacts and to provide optimum visualization of the region and focus of interest. In contrast to postnatal studies, every suspect fetal CNS abnormality requires examination of the whole fetus and the extrafetal intrauterine structures including the uterus. This approach covers both aspects of fetal CNS disorders: isolated and complex malformations and cerebral lesions arising from the impaired integrity of the feto-placental unit. (orig.)

  17. O6-methylguanine DNA methyltransferase in human fetal tissues: fetal and maternal factors

    International Nuclear Information System (INIS)

    D'Ambrosio, S.M.; Samuel, M.J.; Dutta-Choudhury, T.A.; Wani, A.A.

    1986-01-01

    O 6 -Methylguanine methyltransferase (O 6 -MT) was measured and compared in extracts of 7 human fetal tissues obtained from 21 different fetal specimens as a function of fetal age and race, and maternal smoking and drug usage. Activity was determined from the proteinase-K solubilized radioactivity transferred from the DNA to the O 6 -MT. S9 homogenates were incubated with a heat depurinated [ 3 H]-methylnitrosourea alkylated DNA. Liver exhibited the highest activity followed by kidney, lung, small intestine, large intestine, skin and brain. Each of the tissues exhibited a 3- to 5-fold level of interindividual variation of O 6 -MT. There did not appear to be any significant difference of O 6 -MT in the tissues obtained from mothers who smoked cigarettes during pregnancy. Also, fetal race and age did not appear to account for the level of variation of O 6 -MT. The fetal tissues obtained from an individual using phenobarbital and smoking exhibited 4-fold increases in O 6 -MT activity. The tissues obtained from another individual on kidney dialysis were 2- to 3-fold higher than the normal population. These data suggest that the variation in human O 6 -MT can not be explained by racial or smoking factors, but may be modulated by certain drugs

  18. Predicting intrapartum fetal compromise using the fetal cerebro-umbilical ratio.

    Science.gov (United States)

    Sabdia, S; Greer, R M; Prior, T; Kumar, S

    2015-05-01

    The aim of this study was to explore the association between the cerebro-umbilical ratio measured at 35-37 weeks and intrapartum fetal compromise. This retrospective cross sectional study was conducted at the Mater Mothers' Hospital in Brisbane, Australia. Maternal demographics and fetal Doppler indices at 35-37 weeks gestation for 1381 women were correlated with intrapartum and neonatal outcomes. Babies born by caesarean section or instrumental delivery for fetal compromise had the lowest median cerebro-umbilical ratio 1.60 (IQR 1.22-2.08) compared to all other delivery groups (vaginal delivery, emergency delivery for failure to progress, emergency caesarean section for other reasons or elective caesarean section). The percentage of infants with a cerebro-umbilical ratio cerebro-umbilical ratio between the 10th-90th centile and 9.6% of infants with a cerebro-umbilical ratio > 90th centile required delivery for the same indication (p cerebro-umbilical ratio was associated with an increased risk of emergency delivery for fetal compromise, OR 2.03 (95% CI 1.41-2.92), p cerebro-umbilical ratio measured at 35-37 weeks is associated with a greater risk of intrapartum compromise. This is a relatively simple technique which could be used to risk stratify women in diverse healthcare settings. Copyright © 2015 Elsevier Ltd. All rights reserved.

  19. Pre- and postnatal imaging of Pai syndrome with spontaneous intrauterine closure of a frontal cephalocele

    Energy Technology Data Exchange (ETDEWEB)

    Dobrocky, Tomas; Ebner, Lukas; Stranzinger, Enno [Inselspital University Hospital, University of Bern, Department of Interventional, Pediatric and Diagnostic Radiology, Bern (Switzerland); Liniger, Benjamin [Inselspital University Hospital, University of Bern, Department of Pediatric Surgery, Bern (Switzerland); Weisstanner, Christian [Inselspital University Hospital, University of Bern, Department of Diagnostic and Interventional Neuroradiology, Bern (Switzerland)

    2015-06-15

    Pai syndrome is a rare congenital disorder characterized by cutaneous polyps of the face, pericallosal lipoma and median cleft lip. We report on a newborn girl with a variant of Pai syndrome presenting with all typical findings except a median cleft. In addition, fetal sonography and MRI showed the unique intrauterine evolution of a cephalocele into an atretic cephalocele. (orig.)

  20. Fetal MRI

    International Nuclear Information System (INIS)

    Prayer, D.; Brugger, P.C.

    2004-01-01

    New, ultrafast sequences have made it possible to obtain MR images of the fetus without maternal sedation or immobilization of the fetus itself. While fetal MRI began as an adjunct to ultrasound, it has now been shown that MRI can provide additional information that may change prognosis, the management of pregnancy, or the treatment of the newborn child. It is of particular value in the assessment of malformations of the central nervous system. The steady development and adaptation of MR-sequences to the needs of fetal imaging has led to new indications that can support prognostic and therapeutic decisions. (orig.)

  1. Fetal MRI

    Energy Technology Data Exchange (ETDEWEB)

    Prayer, D.; Brugger, P.C. [University Hospital of Vienna (Austria). Division of Neuroradiology

    2004-07-01

    New, ultrafast sequences have made it possible to obtain MR images of the fetus without maternal sedation or immobilization of the fetus itself. While fetal MRI began as an adjunct to ultrasound, it has now been shown that MRI can provide additional information that may change prognosis, the management of pregnancy, or the treatment of the newborn child. It is of particular value in the assessment of malformations of the central nervous system. The steady development and adaptation of MR-sequences to the needs of fetal imaging has led to new indications that can support prognostic and therapeutic decisions. (orig.)

  2. Cadmium-induced fetal toxicity in the rat

    International Nuclear Information System (INIS)

    Levin, A.A.

    1980-01-01

    Cadmium, a heavy metal environment contaminant, induces fetal death and placental necrosis in the Wistar rat. This study investigated fetal, maternal, and placental responses to cadmium intoxication. Subcutaneous injection of CdCl 2 to dams on day 18 of pregnancy produced a high incidence of fetal death (75%) and placental necrosis. Death in the fetus was produced despite limited fetal accumulations of cadmium. Distribution studies using 109 Cd-labeled CdCl 2 demonstrated that less than 0.1% of the injected dose was associated with the fetus. To determine if fetuses were sensitive to these low levels of cadmium, direct injections of CdCl 2 into fetuses were performed in utero. Direct injections produced fetal accumulations 8-fold greater than those following maternal injections. The 8-fold greater fetal accumulations following direct injection were associated with only a 12% fetal mortality compared to the 75% mortality following maternal injections. The data indicated that the fetal toxicity of cadmium following maternal injections was not the result of direct effects of cadmium on the fetus. In conclusion, cadmium-induced fetal death was not the result of direct effects of cadmium on the fetus but may have been induced by placental cellular injury resulting from high accumulations of cadmium in the placenta. A vascular response to placental injury, leading to decreased utero-placental bood flow and cadmium-induced alterations in trophoblastic function, resulted in fetal death

  3. The "Fetal Reserve Index": Re-Engineering the Interpretation and Responses to Fetal Heart Rate Patterns.

    Science.gov (United States)

    Eden, Robert D; Evans, Mark I; Evans, Shara M; Schifrin, Barry S

    2018-01-01

    Electronic fetal monitoring (EFM) correlates poorly with neonatal outcome. We present a new metric: the "Fetal Reserve Index" (FRI), formally incorporating EFM with maternal, obstetrical, fetal risk factors, and excessive uterine activity for assessment of risk for cerebral palsy (CP). We performed a retrospective, case-control series of 50 term CP cases with apparent intrapartum neurological injury and 200 controls. All were deemed neurologically normal on admission. We compared the FRI against ACOG Category (I-III) system and long-term outcome parameters against ACOG monograph (NEACP) requirements for labor-induced fetal neurological injury. Abnormal FRI's identified 100% of CP cases and did so hours before injury. ACOG Category III identified only 44% and much later. Retrospective ACOG monograph criteria were found in at most 30% of intrapartum-acquired CP patients; only 27% had umbilical or neonatal pH <7.0. In this initial, retrospective trial, an abnormal FRI identified all cases of labor-related neurological injury more reliably and earlier than Category III, which may allow fetal therapy by intrauterine resuscitation. The combination of traditional EFM with maternal, obstetrical, and fetal risk factors creating the FRI performed much better as a screening test than EFM alone. Our quantified screening system needs further evaluation in prospective trials. © 2017 S. Karger AG, Basel.

  4. Minimal alteration in the ratio of circulatory fetal DNA to fetal corticotropin-releasing hormone mRNA level in preeclampsia.

    Science.gov (United States)

    Zhong, Xiao Yan; Holzgreve, Wolfgang; Gebhardt, Stefan; Hillermann, Renate; Tofa, Kashefa Carelse; Gupta, Anurag Kumar; Huppertz, Berthold; Hahn, Sinuhe

    2006-01-01

    We have recently observed that fetal DNA and fetal corticotropin-releasing hormone (CRH) mRNA are associated with in vitro generated syncytiotrophoblast-derived microparticles, and that the ratio of fetal DNA to mRNA (CRH) varied according to whether the particles were derived by predominantly apoptotic, apo-necrotic or necrotic pathways. Hence, we examined whether these ratios varied in maternal plasma samples taken from normotensive and preeclamptic pregnancies in vivo. Maternal plasma samples were collected from 18 cases with preeclampsia and 29 normotensive term controls. Circulatory fetal CRH mRNA and DNA levels were quantified by real-time PCR and RT-PCR. Circulatory fetal mRNA and fetal DNA levels were significantly elevated in the preeclampsia study group when compared to normotensive controls. Alterations in the fetal mRNA to DNA ratio between the study and control groups were minimal, even when stratified into early (34 weeks of gestation) onset preeclampsia. Our data suggest that although circulatory fetal DNA and mRNA levels are significantly elevated in preeclampsia, the ratios in maternal plasma are not dramatically altered. Copyright 2006 S. Karger AG, Basel.

  5. Prenatal sonographic measurement of the fetal thyroid gland

    Energy Technology Data Exchange (ETDEWEB)

    Ahn, Young Cheol; Kim, Young Hwa; Cho, Won Soo; Bae, Won Kyung; Kim, Il Young [Chunan Hospital, Soonchunhyang University College of Medicine, Chunan (Korea, Republic of)

    2001-03-15

    To investigate whether the fetal thyroid gland could be examined by prenatal ultrasonography and to established the normal range of fetal thyroid width according to the gestational age. The width of the fetal thyroid was determined by prenatal ultrasonography from 118 pregnant women. Three of the mothers had current or previous thyroid disease and the widths of the fetal thyroid were determined from 115 normal subjects. The width of the fetal thyroid was defined by a maximum transverse distance of the thyroid gland between two carotid arteries on transverse scan of the fetal neck. We analyzed the cause of non-measurable cases. The width of the fetal thyroid and Neo-TSH were compared in 19 subjects, including 3 subjects will current or previous thyroid disease. We could measure the fetal thyroid widths in 95 cases (80%). The fetal thyroid widths of mothers without current or previous thyroid disease was 0.9-2.36 cm,which showed linear correlation with gestational age (Y=0.0506 X + 0.0439, r{sup 2}=0.5661). Causes of non-measurable cases were neck flexion (65%), prone position (22%), and overlapped fetal neck by arm or shoulder (13%). Of the 19 neonates with Neo-TSH level, one case had a mother with a thyroid disease and showed increased width of the fetal and high Neo-TSH. The fetal thyroid was measured in 80% of prenatal ultrasonography and the width of the fetal thyroid showed linear correlated with gestational age. We assumed that the width of the thyroid could be useful for diagnosing fetal thyroid disorder when maternal thyroid disease exists.

  6. Prenatal sonographic measurement of the fetal thyroid gland

    International Nuclear Information System (INIS)

    Ahn, Young Cheol; Kim, Young Hwa; Cho, Won Soo; Bae, Won Kyung; Kim, Il Young

    2001-01-01

    To investigate whether the fetal thyroid gland could be examined by prenatal ultrasonography and to established the normal range of fetal thyroid width according to the gestational age. The width of the fetal thyroid was determined by prenatal ultrasonography from 118 pregnant women. Three of the mothers had current or previous thyroid disease and the widths of the fetal thyroid were determined from 115 normal subjects. The width of the fetal thyroid was defined by a maximum transverse distance of the thyroid gland between two carotid arteries on transverse scan of the fetal neck. We analyzed the cause of non-measurable cases. The width of the fetal thyroid and Neo-TSH were compared in 19 subjects, including 3 subjects will current or previous thyroid disease. We could measure the fetal thyroid widths in 95 cases (80%). The fetal thyroid widths of mothers without current or previous thyroid disease was 0.9-2.36 cm,which showed linear correlation with gestational age (Y=0.0506 X + 0.0439, r 2 =0.5661). Causes of non-measurable cases were neck flexion (65%), prone position (22%), and overlapped fetal neck by arm or shoulder (13%). Of the 19 neonates with Neo-TSH level, one case had a mother with a thyroid disease and showed increased width of the fetal and high Neo-TSH. The fetal thyroid was measured in 80% of prenatal ultrasonography and the width of the fetal thyroid showed linear correlated with gestational age. We assumed that the width of the thyroid could be useful for diagnosing fetal thyroid disorder when maternal thyroid disease exists.

  7. Choriodecidual group B streptococcal inoculation induces fetal lung injury without intra-amniotic infection and preterm labor in Macaca nemestrina.

    Directory of Open Access Journals (Sweden)

    Kristina M Adams Waldorf

    symptoms and before the onset of the fetal systemic inflammatory response syndrome.

  8. Fetal magnetic resonance imaging and human genetics

    International Nuclear Information System (INIS)

    Hengstschlaeger, Markus

    2006-01-01

    The use of fetal magnetic resonance imaging (MRI), in addition to prenatal genetic testing and sonography, has the potential to improve prenatal diagnosis of genetic disorders. MRI plays an important role in the evaluation of fetal abnormalities and malformations. Fetal MRI often enables a differential diagnosis, a determination of the extent of the disorder, the prognosis, and an improvement in therapeutic management. For counseling of parents, as well as to basically understand how genetic aberrations affect fetal development, it is of great importance to correlate different genotypes with fetal MRI data

  9. Fetal magnetic resonance imaging and human genetics

    Energy Technology Data Exchange (ETDEWEB)

    Hengstschlaeger, Markus [Medical Genetics, Obstetrics and Gynecology, Medical University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria)]. E-mail: markus.hengstschlaeger@meduniwien.ac.at

    2006-02-15

    The use of fetal magnetic resonance imaging (MRI), in addition to prenatal genetic testing and sonography, has the potential to improve prenatal diagnosis of genetic disorders. MRI plays an important role in the evaluation of fetal abnormalities and malformations. Fetal MRI often enables a differential diagnosis, a determination of the extent of the disorder, the prognosis, and an improvement in therapeutic management. For counseling of parents, as well as to basically understand how genetic aberrations affect fetal development, it is of great importance to correlate different genotypes with fetal MRI data.

  10. Syndromes, Disorders and Maternal Risk Factors Associated With Neural Tube Defects (VII

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2008-09-01

    Full Text Available Neural tube defects (NTDs may be associated with syndromes, disorders and maternal risk factors. This article provides a comprehensive review of the syndromes, disorders and maternal risk factors associated with NTDs, including DK phocomelia syndrome (von Voss-Cherstvoy syndrome, Siegel-Bartlet syndrome, fetal warfarin syndrome, craniotelencephalic dysplasia, Czeizel-Losonci syndrome, maternal cocaine abuse, Weissenbacher-Zweymüller syndrome, parietal foramina (cranium bifidum, Apert syndrome, craniomicromelic syndrome, XX-agonadism with multiple dysraphic lesions including omphalocele and NTDs, Fryns microphthalmia syndrome, Gershoni-Baruch syndrome, PHAVER syndrome, periconceptional vitamin B6 deficiency, and autosomal dominant Dandy-Walker malformation with occipital cephalocele. NTDs associated with these syndromes, disorders and maternal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different from those of nonsyndromic multifactorial NTDs. Perinatal diagnosis of NTDs should alert doctors to the syndromes, disorders and maternal risk factors associated with NTDs, and prompt thorough etiologic investigation and genetic counseling.

  11. L-Citrulline Supplementation Enhances Fetal Growth and Protein Synthesis in Rats with Intrauterine Growth Restriction.

    Science.gov (United States)

    Bourdon, Aurélie; Parnet, Patricia; Nowak, Christel; Tran, Nhat-Thang; Winer, Norbert; Darmaun, Dominique

    2016-03-01

    Intrauterine growth restriction (IUGR) results from either maternal undernutrition or impaired placental blood flow, exposing offspring to increased perinatal mortality and a higher risk of metabolic syndrome and cardiovascular disease during adulthood. l-Citrulline is a precursor of l-arginine and nitric oxide (NO), which regulates placental blood flow. Moreover, l-citrulline stimulates protein synthesis in other models of undernutrition. The aim of the study was to determine whether l-citrulline supplementation would enhance fetal growth in a model of IUGR induced by maternal dietary protein restriction. Pregnant rats were fed either a control (20% protein) or a low-protein (LP; 4% protein) diet. LP dams were randomly allocated to drink tap water either as such or supplemented with l-citrulline (2 g · kg(-1) · d(-1)), an isonitrogenous amount of l-arginine, or nonessential l-amino acids (NEAAs). On day 21 of gestation, dams received a 2-h infusion of l-[1-(13)C]-valine until fetuses were extracted by cesarean delivery. Isotope enrichments were measured in free amino acids and fetal muscle, liver, and placenta protein by GC-mass spectrometry. Fetal weight was ∼29% lower in the LP group (3.82 ± 0.06 g) than in the control group (5.41 ± 0.10 g) (P growth in a model of IUGR, and the effect may be mediated by enhanced fetal muscle protein synthesis and/or increased NO production. © 2016 American Society for Nutrition.

  12. MR imaging of the fetal brain

    International Nuclear Information System (INIS)

    Glenn, Orit A.

    2010-01-01

    Fetal MRI is clinically performed to evaluate the brain in cases where an abnormality is detected by prenatal sonography. These most commonly include ventriculomegaly, abnormalities of the corpus callosum, and abnormalities of the posterior fossa. Fetal MRI is also increasingly performed to evaluate fetuses who have normal brain findings on prenatal sonogram but who are at increased risk for neurodevelopmental abnormalities, such as complicated monochorionic twin pregnancies. This paper will briefly discuss the common clinical conditions imaged by fetal MRI as well as recent advances in fetal MRI research. (orig.)

  13. MR imaging of the fetal brain

    Energy Technology Data Exchange (ETDEWEB)

    Glenn, Orit A. [University of California, San Francisco, Department of Radiology, Neuroradiology Section, San Francisco, CA (United States)

    2010-01-15

    Fetal MRI is clinically performed to evaluate the brain in cases where an abnormality is detected by prenatal sonography. These most commonly include ventriculomegaly, abnormalities of the corpus callosum, and abnormalities of the posterior fossa. Fetal MRI is also increasingly performed to evaluate fetuses who have normal brain findings on prenatal sonogram but who are at increased risk for neurodevelopmental abnormalities, such as complicated monochorionic twin pregnancies. This paper will briefly discuss the common clinical conditions imaged by fetal MRI as well as recent advances in fetal MRI research. (orig.)

  14. Fetal body movement monitoring.

    Science.gov (United States)

    Rayburn, W F

    1990-03-01

    Recording fetal activity serves as an indirect measure of central nervous system integrity and function. The coordination of whole body movement, which requires complex neurologic control, is likely similar to that of the newborn infant. Short-term observations of the fetus are best performed using real-time ultrasound imaging. Monitoring fetal motion has been shown to be clinically worthwhile in predicting impending death or compromise, especially when placental insufficiency is longstanding. The presence of a vigorous fetus is reassuring. Perceived inactivity requires a reassessment of any underlying antepartum complication and a more precise evaluation by fetal heart rate testing or real-time ultrasonography before delivery is contemplated.

  15. Controversias actuales para definir las alteraciones del bienestar fetal Current controversies to define changes in the fetal wellbeing

    Directory of Open Access Journals (Sweden)

    Danilo Nápoles Méndez

    2013-02-01

    Full Text Available Como propuesta de diferentes sociedades científicas se estableció el término estado fetal no tranquilizador en sustitución de sufrimiento fetal, que era considerado inespecífico. Esta revisión bibliográfica se efectuó a fin de exponer a la comunidad médica los diferentes términos con que se definen las alteraciones del bienestar fetal y la influencia que el empleo de las expresiones estado fetal no tranquilizador y riesgo de pérdida del bienestar fetal generan en la práctica de Obstetricia. Asimismo, se puso énfasis en la necesidad de buscar un lenguaje técnico más unificado y se concluyó que la formación de estos términos no determina la correspondencia existente entre la evaluación prenatal del feto y su estado al nacer.As a proposal of different scientific societies the term non reassuring fetal status was coined, substituting it by fetal distress which was considered nonspecific. This literature review was carried out in order to show to the medical community the different terms with which the changes of the fetal wellbeing are defined and the influence that the use of the expressions non reassuring fetal status and the risk of loss of the fetal well-being generate in Obstetrics. Likewise, the necessity of looking for a more unified technical language was emphasized and it was concluded that these terms do not determine the existent correspondence between the prenatal evaluation of the fetus and its status at birth.

  16. Doppler changes as the earliest parameter in fetal surveillance to detect fetal compromise in intrauterine growth-restricted fetuses

    Directory of Open Access Journals (Sweden)

    Bansal Saloni

    2016-01-01

    Full Text Available Introduction. It is estimated that 3-10% of infants are growth restricted. Growth disturbances may have long-term issues. Doppler allows insight into the fetal response to intrauterine stress. Objective. The aim of this study was to detect fetal compromise in intrauterine growth-restricted (IUGR fetuses by means of biophysical profile (BPP vis-а-vis Doppler velocimetry studies of the fetal umbilical artery, and to find out which of the two is a better and earlier predictor of fetal compromise. Methods. A prospective study was conducted on a total of 50 singleton pregnancies with IUGR between 28 and 42 weeks of gestation. Study patients were managed expectantly with nonstress testing and amniotic fluid assessment, BPP and Doppler velocimetry studies of the fetal umbilical artery. Results. Fetal outcome was poor in 5/50 (10% of the fetuses, defined as presence of all of the following: poor Apgar test score, neonatal intensive care unit stay, necrotizing enterocolitis, and low birth weight. Of the four with abnormal BPP, 50% had poor fetal outcomes. Out of 46 with normal BPP, 6.5% had poor fetal outcomes. Conclusion. Inference drawn from the study is that the Doppler technology provides us the opportunity for repetitive noninvasive hemodynamic monitoring in IUGR pregnancies.

  17. Fetal stimulation by pulsed diagnostic ultrasound.

    Science.gov (United States)

    Fatemi, M; Ogburn, P L; Greenleaf, J F

    2001-08-01

    To show that pulsed ultrasound from a clinical ultrasonic imaging system can stimulate the fetus. Stimulation is defined mainly as increased fetal gross body movements in response to excitation. Fetuses of a group of 9 volunteer women (mean gestational age, 33.37 weeks; range, 25-40 weeks) were evaluated for body movement under 3 different conditions: (1) control, with no ultrasound exposure; (2) ultrasound in continuous wave Doppler mode; and (3) pulsed ultrasound in pulsed Doppler and B modes. A conventional external fetal monitor, with negligible ultrasonic output, was used to monitor fetal gross body motions. After an initial rest period of 3 minutes with 1 or no fetal motion, fetuses were monitored for an additional 3 minutes under the exposure criterion defined for each condition. Resulting fetal motions under the 3 conditions were compared using the Wilcoxon signed rank test. The test showed that fetuses moved significantly more frequently under condition 3 (mean +/- SD, 3.43 +/- 1.93 movements per minute) than under condition 1 (0.40 +/- 7.33 movements per minute) or condition 2 (0.63 +/- 7.67 movements per minute); P = .004 and .016, respectively. Fetal movements under conditions 1 and 2 did not differ significantly. Diagnostic ultrasound may stimulate fetal body motion.

  18. Placental adaptations to the maternal-fetal environment: implications for fetal growth and developmental programming.

    Science.gov (United States)

    Sandovici, Ionel; Hoelle, Katharina; Angiolini, Emily; Constância, Miguel

    2012-07-01

    The placenta is a transient organ found in eutherian mammals that evolved primarily to provide nutrients for the developing fetus. The placenta exchanges a wide array of nutrients, endocrine signals, cytokines and growth factors with the mother and the fetus, thereby regulating intrauterine development. Recent studies show that the placenta is not just a passive organ mediating maternal-fetal exchange. It can adapt its capacity to supply nutrients in response to intrinsic and extrinsic variations in the maternal-fetal environment. These dynamic adaptations are thought to occur to maximize fetal growth and viability at birth in the prevailing conditions in utero. However, some of these adaptations may also affect the development of individual fetal tissues, with patho-physiological consequences long after birth. Here, this review summarizes current knowledge on the causes, possible mechanisms and consequences of placental adaptive responses, with a focus on the regulation of transporter-mediated processes for nutrients. This review also highlights the emerging roles that imprinted genes and epigenetic mechanisms of gene regulation may play in placental adaptations to the maternal-fetal environment. Copyright © 2012 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  19. Fetal anatomy revealed with fast MR sequences.

    Science.gov (United States)

    Levine, D; Hatabu, H; Gaa, J; Atkinson, M W; Edelman, R R

    1996-10-01

    Although all the imaging studies in this pictorial essay were done for maternal rather than fetal indications, fetal anatomy was well visualized. However, when scans are undertaken for fetal indications, fetal motion in between scout views and imaging sequences may make specific image planes difficult to obtain. Of the different techniques described in this review, we preferred the HASTE technique and use it almost exclusively for scanning pregnant patients. The T2-weighting is ideal for delineating fetal organs. Also, the HASTE technique allows images to be obtained in 430 msec, limiting artifacts arising from maternal and fetal motion. MR imaging should play a more important role in evaluating equivocal sonographic cases as fast scanning techniques are more widely used. Obstetric MR imaging no longer will be limited by fetal motion artifacts. When complex anatomy requires definition in a complicated pregnant patient, MR imaging should be considered as a useful adjunct to sonography.

  20. Fetal Primary Cardiac Tumors During Perinatal Period

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    2017-06-01

    Full Text Available Fetal primary cardiac tumors are rare, but they may cause complications, which are sometimes life threatening, including arrhythmias, hydrops fetalis, ventricular outflow/inflow obstruction, cardiac failure, and even sudden death. Among fetal primary cardiac tumors, rhabdomyomas are most common, followed by teratomas, fibromas, hemangiomas, and myxomas. Everolimus, a mammalian target of rapamycin inhibitor, has been reported to be an effective drug to cause tumor remission in three neonates with multiple cardiac rhabdomyomas. Neonatal cardiac surgery for the resection of primary cardiac tumors found by fetal echocardiography has been reported sporadically. However, open fetal surgery for pericardial teratoma resection, which was performed successfully via a fetal median sternotomy in one case report, could be a promising intervention to rescue these patients with large pericardial effusions. These recent achievements undoubtedly encourage further development in early management of fetal cardiac tumors. Owing to the rarity of fetal primary cardiac tumors, relevant information in terms of prenatal diagnosis, treatment, and prognosis remains to be clarified.

  1. Fetal magnetic resonance imaging: indications, technique, anatomical considerations and a review of fetal abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Ertl-Wagner, Birgit [Department of Radiology, Klinikum Grosshadern, University of Munich, Marchioninistrasse 15, 81377 Munich (Germany); Present address: Institute of Clinical Radiology, Klinikum Grosshadern, University of Munich, Marchioninistrasse 15, 81377 Munich (Germany); Lienemann, Andreas; Reiser, Maximilian F. [Department of Radiology, Klinikum Grosshadern, University of Munich, Marchioninistrasse 15, 81377 Munich (Germany); Strauss, Alexander [Department of Obstetrics and Gynecology, Klinikum Grosshadern, University of Munich, Marchioninistrasse 15, 81377 Munich (Germany)

    2002-08-01

    Fetal MR imaging often poses a diagnostic challenge for the radiologist. Both fetal anatomy and pathology differ decidedly from pediatric and adult MR imaging. While ultrasound remains the method of choice for screening examinations of the fetus, MR imaging is playing an increasingly important role in the detection and classification of malformations not diagnosable by ultrasonography alone. Recently, advances in fast single-shot MR sequences have allowed high-resolution, high-quality imaging of the moving fetus. Preferable sequences to be applied are a true fast imaging steady precession (true-FISP) or a half-Fourier acquired single-shot turbo spin-echo (HASTE) sequence. Premedication is generally no longer required. In all fetal MR imaging, every aspect of fetal anatomy has to be scrutinized. Subsequently, any abnormalities need to be described and classified. A close collaboration with the referring obstetrician is of paramount importance. (orig.)

  2. Perspectives of fetal dystocia in cattle and buffalo

    Directory of Open Access Journals (Sweden)

    Govind Narayan Purohit

    2012-04-01

    Full Text Available We review the causes of fetal dystocia in cows and buffalo. Two fetal causes are distinct fetal oversize and fetal abnormalities. Fetal oversize is common in heifers, cows of beef cattle breeds, prolonged gestations, increased calf birth weight, male calves and perinatal fetal death with resultant emphysema. Fetal abnormalities include monsters, fetal diseases and fetal maldispositions, and it is difficult to deliver such fetuses because of their altered shape. Although monsters are rare in cattle, a large number of monstrosities have been reported in river buffalo; yet also here, overall incidence is low. Diseases of the fetus resulting in dystocia include hydrocephalus, ascites, anasarca and hydrothorax. The most common cause of dystocia in cattle seems to be fetal maldispositions, of which limb flexion and head deviation appear to be the most frequent. We provide a brief description of the management of dystocia from different causes in cattle and buffalo. A case analysis of 192 and 112 dystocia in cattle and buffalo, respectively, at our referral center revealed that dystocia is significantly higher (P<0.05 in first and second parity cows and buffalo, and that dystocia of fetal origin is common in cows (65.62% but less frequent (40.17% in buffalo. In buffalo, the single biggest cause of dystocia was uterine torsion (53.57%. Fetal survival was significantly (P<0.05 higher both in cows and buffalo when delivery was completed within 12 h of second stage of labor.

  3. Prognostic Significance of Preterm Isolated Decreased Fetal Movement

    Directory of Open Access Journals (Sweden)

    Ertuğrul Karahanoğlu

    2017-12-01

    Full Text Available Objective: Our aim is to evaluate the prognostic significance of isolated, preterm decreased fetal movement following normal initial full diagnostic workup. Study design: A retrospective observational study was conducted at a tertiary centre. The applied protocol was approved by the Medical Research Ethics Department of the hospital where the research was conducted. Obstetrics outcomes of preterm- and term-decreased fetal movement were compared following an initial, normal diagnostic work up. Evaluated outcomes were birth weight, mode of delivery, stillbirth rate, induction of labour, development of gestational hypertension, small for gestational age and oligohydramnios, polyhydramnios during the follow up period. Result: Obstetric complications related to placental insufficiency develops more frequently for decreased fetal movement in preterm cases with respect to that of in term cases. Following the diagnosis of decreased fetal movement, pregnancy hypertension occurred in 17% of preterm decreased fetal movement cases and in 4.7% of term decreased fetal movement cases. Fetal growth restriction developed in 6.6% of preterm decreased fetal movement and in 2.3% of term decreased fetal movement. Amniotic fluid abnormalities more frequently developed in preterm decreased fetal movement. Conclusion: Following an initial normal diagnostic workup, preterm decreased fetal movement convey a higher risk for the development of pregnancy complications associated with placental insufficiency. The patient should be monitored closely and management protocols must be developed for initial normal diagnostic workups in cases of preterm decreased fetal movement.

  4. Medio ambiente fetal Fetal environment

    Directory of Open Access Journals (Sweden)

    César Bernardo Ospina Arcila

    1996-04-01

    Full Text Available Con base en el artículo clásico "Monte Everest in utero" se hace un análisis de la situación que afronta el feto con respecto a la disponibilidad de oxígeno; para una mejor comprensión del sufrimiento fetal se revisan los siguientes conceptos: presión barométrica, presión parcial del oxígeno atmosférico, presión parcial del oxígeno inspirado, presión barométrica intranasal, ecuación del gas alveolar y difusión de gases a través de la membrana alvéolo capilar. Based on the classical paper by Eastman "Mount Everest in utero" an analysis is made of the situation faced by the fetus with respect to the availability of oxygen; for a better under. standing of fetal distress the following concepts are reviewed: barometric pressure, partial pressure of atmosferic oxygen, partial pressure of inspired oxygen, barometric intranasal pressure, alveolar gas equation and gas diffusion through alveolo-capilar membrane.

  5. Microquimerismo fetal-materno nas doenças reumáticas auto-imunes Maternal-fetal microchimerism in autoimmune rheumatic diseases

    Directory of Open Access Journals (Sweden)

    Karin Spat Albino Barcellos

    2004-02-01

    Full Text Available Estudos recentes indicam a existência de um tráfego bidirecional de células durante a gestação humana normal. Células fetais persistem no sangue periférico materno por muitos anos após a gestação. Muitas doenças auto-imunes são mais prevalentes em mulheres, algumas das quais apresentam pico de incidência em fases tardias dos anos férteis femininos. A doença enxerto-versushospedeiro é uma condição conhecida de quimerismo e possui similaridades clínicas com algumas doenças auto-imunes reumáticas, notavelmente com esclerose sistêmica e síndrome de Sjögren e, algumas vezes, com lúpus eritematoso sistêmico. Este artigo explora a hipótese de que o microquimerismo fetal contribua para a patogênese de algumas doenças auto-imunes, baseado em revisões de estudos anteriores que trabalharam com esta hipótese. São apresentadas ressalvas de ordem conceitual e técnica a serem consideradas na interpretação dos dados da literatura.Recent studies indicate that there is bi-directional traffic of cells during normal human pregnancy. Fetal cells have been found to persist in the maternal peripheral blood for many years after pregnancy. Many autoimmune diseases are more prevalent in women, and some of them have peak incidence at late stages of childbearing years. Chronic graft versus host disease (cGVHD is a known condition of chimerism and has clinical similarities to some rheumatic autoimmune diseases, notably systemic sclerosis, Sjögren's syndrome and systemic lupus erythematosus. This article explores the hypothesis that fetal microchimerism contributes to the pathogenesis of some autoimmune diseases, based on reviews of previous studies that have worked with this hypothesis. Technical and conceptual considerations are presented for a critical appraisal of the available literature.

  6. The Use of Fetal Noninvasive Electrocardiography

    Directory of Open Access Journals (Sweden)

    Igor Lakhno

    2016-01-01

    Full Text Available Preeclampsia (PE is one of the severe complications of pregnancy that leads to fetal deterioration. The aim was to survey the validity of fetal distress diagnostics in case of Doppler ultrasonic umbilical vein and arteries blood flow velocity investigation and ECG parameters analysis obtained from maternal abdominal signal before labor in preeclamptic patients. Fetal noninvasive ECG and umbilical arterial and venous Doppler investigation were performed in 120 patients at 34–40 weeks of gestation. And 30 of them had physiological gestation and were involved in Group I. In Group II 52 pregnant women with mild-moderate PE were observed. 38 patients with severe PE were monitored in Group III. The most considerable negative correlation was determined in pair Apgar score 1 versus T/QRS (R=-0.50; p<0.05. So the increased T/QRS ratio was the most evident marker of fetal distress. Fetal noninvasive ECG showed sensitivity of 96.6% and specificity of 98.4% and, therefore, was determined as more accurate method for fetal monitoring.

  7. Maternal feeding controls fetal biological clock.

    Directory of Open Access Journals (Sweden)

    Hidenobu Ohta

    Full Text Available BACKGROUND: It is widely accepted that circadian physiological rhythms of the fetus are affected by oscillators in the maternal brain that are coupled to the environmental light-dark (LD cycle. METHODOLOGY/PRINCIPAL FINDINGS: To study the link between fetal and maternal biological clocks, we investigated the effects of cycles of maternal food availability on the rhythms of Per1 gene expression in the fetal suprachiasmatic nucleus (SCN and liver using a transgenic rat model whose tissues express luciferase in vitro. Although the maternal SCN remained phase-locked to the LD cycle, maternal restricted feeding phase-advanced the fetal SCN and liver by 5 and 7 hours respectively within the 22-day pregnancy. CONCLUSIONS/SIGNIFICANCE: Our results demonstrate that maternal feeding entrains the fetal SCN and liver independently of both the maternal SCN and the LD cycle. This indicates that maternal-feeding signals can be more influential for the fetal SCN and particular organ oscillators than hormonal signals controlled by the maternal SCN, suggesting the importance of a regular maternal feeding schedule for appropriate fetal molecular clockwork during pregnancy.

  8. The Danish Fetal Medicine Database

    Directory of Open Access Journals (Sweden)

    Ekelund CK

    2016-10-01

    Full Text Available Charlotte Kvist Ekelund,1 Tine Iskov Kopp,2 Ann Tabor,1 Olav Bjørn Petersen3 1Department of Obstetrics, Center of Fetal Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; 2Registry Support Centre (East – Epidemiology and Biostatistics, Research Centre for Prevention and Health, Glostrup, Denmark; 3Fetal Medicine Unit, Aarhus University Hospital, Aarhus Nord, Denmark Aim: The aim of this study is to set up a database in order to monitor the detection rates and false-positive rates of first-trimester screening for chromosomal abnormalities and prenatal detection rates of fetal malformations in Denmark. Study population: Pregnant women with a first or second trimester ultrasound scan performed at all public hospitals in Denmark are registered in the database. Main variables/descriptive data: Data on maternal characteristics, ultrasonic, and biochemical variables are continuously sent from the fetal medicine units' Astraia databases to the central database via web service. Information about outcome of pregnancy (miscarriage, termination, live birth, or stillbirth is received from the National Patient Register and National Birth Register and linked via the Danish unique personal registration number. Furthermore, results of all pre- and postnatal chromosome analyses are sent to the database. Conclusion: It has been possible to establish a fetal medicine database, which monitors first-trimester screening for chromosomal abnormalities and second-trimester screening for major fetal malformations with the input from already collected data. The database is valuable to assess the performance at a regional level and to compare Danish performance with international results at a national level. Keywords: prenatal screening, nuchal translucency, fetal malformations, chromosomal abnormalities

  9. Fetal responses to induced maternal relaxation during pregnancy

    OpenAIRE

    DiPietro, Janet A.; Costigan, Kathleen A.; Nelson, Priscilla; Gurewitsch, Edith D.; Laudenslager, Mark L.

    2007-01-01

    Fetal responses to induced maternal relaxation during the 32nd week of pregnancy were recorded in 100 maternal-fetal pairs using a digitized data collection system. The 18-minute guided imagery relaxation manipulation generated significant changes in maternal heart rate, skin conductance, respiration period, and respiratory sinus arrhythmia. Significant alterations in fetal neurobehavior were observed, including decreased fetal heart rate (FHR), increased FHR variability, suppression of fetal...

  10. Ultrasonographic determination of fetal gender

    International Nuclear Information System (INIS)

    Kim, Il Young; Kim, Dae Ho; Lee, Byung Ho; Bae, Dong Han

    1985-01-01

    Sonographic determination of fetal gender was attempted prospectively in most pregnancies of more than 26 weeks. We studied 193 cases of pregnancies with ultrasound for recent 9 months from June 1984 to February 1985 at department of radiology, Soonchunhyang university, Soonchunhyang Chunan hospital, and analysed ultrasonographic finding of fetal gender. The results were as follows; 1. Overall accuracy rate for fetal gender is 90%. 2. Accuracy rate for male fetus is 97.8%. 3. Accuracy rate for female fetus is 88.2%

  11. Long QT Syndrome–Associated Mutations in Intrauterine Fetal Death

    Science.gov (United States)

    Crotti, Lia; Tester, David J.; White, Wendy M.; Bartos, Daniel C.; Insolia, Roberto; Besana, Alessandra; Kunic, Jennifer D.; Will, Melissa L.; Velasco, Ellyn J.; Bair, Jennifer J.; Ghidoni, Alice; Cetin, Irene; Van Dyke, Daniel L.; Wick, Myra J.; Brost, Brian; Delisle, Brian P.; Facchinetti, Fabio; George, Alfred L.; Schwartz, Peter J.; Ackerman, Michael J.

    2013-01-01

    Importance Intrauterine fetal death or stillbirth occurs in approximately 1 out of every 160 pregnancies and accounts for 50% of all perinatal deaths. Postmortem evaluation fails to elucidate an underlying cause in many cases. Long QT syndrome (LQTS) may contribute to this problem. Objective To determine the spectrum and prevalence of mutations in the 3 most common LQTS susceptible genes (KCNQ1, KCNH2, and SCN5A) for a cohort of unexplained cases. Design, Setting, and Patients In this case series, retrospective postmortem genetic testing was conducted on a convenience sample of 91 unexplained intrauterine fetal deaths (mean [SD] estimated gestational age at fetal death, 26.3 [8.7] weeks) that were collected from 2006-2012 by the Mayo Clinic, Rochester, Minnesota, or the Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. More than 1300 ostensibly healthy individuals served as controls. In addition, publicly available exome databases were assessed for the general population frequency of identified genetic variants. Main Outcomes and Measures Comprehensive mutational analyses of KCNQ1 (KV7.1, LQTS type 1), KCNH2 (HERG/KV11.1, LQTS type 2), and SCN5A (NaV1.5, LQTS type 3) were performed using denaturing high-performance liquid chromatography and direct DNA sequencing on genomic DNA extracted from decedent tissue. Functional analyses of novel mutations were performed using heterologous expression and patch-clamp recording. Results The 3 putative LQTS susceptibility missense mutations (KCNQ1, p.A283T; KCNQ1, p.R397W; and KCNH2[1b], p.R25W), with a heterozygous frequency of less than 0.05% in more than 10000 publicly available exomes and absent in more than 1000 ethnically similar control patients, were discovered in 3 intrauterine fetal deaths (3.3% [95% CI, 0.68%-9.3%]). Both KV7.1-A283T (16-week male) and KV7.1-R397W (16-week female) mutations were associated with marked KV7.1 loss-of-function consistent with in utero LQTS type 1, whereas the HERG1b-R25W mutation

  12. Contribution of Histologic Chorioamnionitis and Fetal Inflammatory Response Syndrome to Increased Risk of Brain Injury in Infants With Preterm Premature Rupture of Membranes.

    Science.gov (United States)

    Lu, Hong-Yan; Zhang, Qiang; Wang, Qiu-Xia; Lu, Jun-Ying

    2016-08-01

    To determine the association of histologic chorioamnionitis (HCA) and fetal inflammatory response syndrome (FIRS) with brain injuries in infants born to mothers with preterm premature rupture of membranes. A total of 103 singleton infants born to mothers with preterm premature rupture of membranes were enrolled. The placental inflammation was confirmed by HCA, and FIRS was defined in fetuses with preterm labor and an elevation of the fetal plasma interleukin-6 concentration. Examination of brain images was conducted to confirm the existence of brain injuries. Based on placental HCA and umbilical cord blood interleukin-6 level, all patients were divided into three groups: HCA(-)FIRS(+), HCA(+)FIRS(-), and HCA(+)FIRS(+). Among all infants with preterm premature rupture of membranes, 53.40% were exposed to HCA, 20.38% experienced FIRS, and the overall incidence of brain injuries was 38.83%. The incidence of brain injury in HCA(-)FIRS(+), HCA(+)FIRS(-), and HCA(+)FIRS(+) groups were 20.83%, 41.18%, and 76.19%, respectively. HCA at the advanced grades and stages was associated with increased risk of brain injury. Umbilical cord blood levels of interleukin-6 (IL-6), interleukin-8 (IL-8), tumor necrosis factor alpha (TNF-α), and granulocyte-colony stimulating factor (G-CSF) in premature infants with brain injuries were significantly higher than in those without brain injuries. Infants diagnosed with both HCA and FIRS showed significantly higher levels of IL-8, TNF-α, and G-CSF than those with HCA alone. Preterm infants exposed to severe chorioamnionitis had an increased risk of brain injury. IL-6, IL-8, TNF-α, and G-CSF in cord blood were associated with brain injuries in preterm infants and may be used as extradiagnostic criteria. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. Ultrasonic prediction of fetal mass

    African Journals Online (AJOL)

    1983-02-19

    Feb 19, 1983 ... Summary. A clinically accurate method for estimating fetal. mass from fetal body parameters is reviewed. The abdominal circumference is first calculated from ... reliable clinical parameter is the impression of uterine volume,.

  14. Fetal microchimeric cells in autoimmune thyroid diseases

    Science.gov (United States)

    Lepez, Trees; Vandewoestyne, Mado; Deforce, Dieter

    2013-01-01

    Autoimmune thyroid diseases (AITD) show a female predominance, with an increased incidence in the years following parturition. Fetal microchimerism has been suggested to play a role in the pathogenesis of AITD. However, only the presence of fetal microchimeric cells in blood and in the thyroid gland of these patients has been proven, but not an actual active role in AITD. Is fetal microchimerism harmful for the thyroid gland by initiating a Graft versus Host reaction (GvHR) or being the target of a Host versus Graft reaction (HvGR)? Is fetal microchimerism beneficial for the thyroid gland by being a part of tissue repair or are fetal cells just innocent bystanders in the process of autoimmunity? This review explores every hypothesis concerning the role of fetal microchimerism in AITD. PMID:23723083

  15. Fetal responses to induced maternal relaxation during pregnancy.

    Science.gov (United States)

    DiPietro, Janet A; Costigan, Kathleen A; Nelson, Priscilla; Gurewitsch, Edith D; Laudenslager, Mark L

    2008-01-01

    Fetal responses to induced maternal relaxation during the 32nd week of pregnancy were recorded in 100 maternal-fetal pairs using a digitized data collection system. The 18-min guided imagery relaxation manipulation generated significant changes in maternal heart rate, skin conductance, respiration period, and respiratory sinus arrhythmia. Significant alterations in fetal neurobehavior were observed, including decreased fetal heart rate (FHR), increased FHR variability, suppression of fetal motor activity (FM), and increased FM-FHR coupling. Attribution of the two fetal cardiac responses to the guided imagery procedure itself, as opposed to simple rest or recumbency, is tempered by the observed pattern of response. Evaluation of correspondence between changes within individual maternal-fetal pairs revealed significant associations between maternal autonomic measures and fetal cardiac patterns, lower umbilical and uterine artery resistance and increased FHR variability, and declining salivary cortisol and FM activity. Potential mechanisms that may mediate the observed results are discussed.

  16. Indications and technique of fetal magnetic resonance imaging

    International Nuclear Information System (INIS)

    Asenbaum, U.; Woitek, R.; Furtner, J.; Prayer, D.; Brugger, P.C.

    2013-01-01

    Evaluation and confirmation of fetal pathologies previously suspected or diagnosed with ultrasound. Ultrasound and magnetic resonance imaging (MRI). Technique for prenatal fetal examination. Fetal MRI is an established supplementary technique to prenatal ultrasound. Fetal MRI should only be used as an additional method in prenatal diagnostics and not for routine screening. Fetal MRI should only be performed in perinatal medicine centers after a previous level III ultrasound examination. (orig.) [de

  17. Restoration of dioxin-induced damage to fetal steroidogenesis and gonadotropin formation by maternal co-treatment with α-lipoic acid.

    Directory of Open Access Journals (Sweden)

    Takayuki Koga

    Full Text Available 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD, an endocrine disruptor, causes reproductive and developmental toxic effects in pups following maternal exposure in a number of animal models. Our previous studies have demonstrated that TCDD imprints sexual immaturity by suppressing the expression of fetal pituitary gonadotropins, the regulators of gonadal steroidogenesis. In the present study, we discovered that all TCDD-produced damage to fetal production of pituitary gonadotropins as well as testicular steroidogenesis can be repaired by co-treating pregnant rats with α-lipoic acid (LA, an obligate co-factor for intermediary metabolism including energy production. While LA also acts as an anti-oxidant, other anti-oxidants; i.e., ascorbic acid, butylated hydroxyanisole and edaravone, failed to exhibit any beneficial effects. Neither wasting syndrome nor CYP1A1 induction in the fetal brain caused through the activation of aryl hydrocarbon receptor (AhR could be attenuated by LA. These lines of evidence suggest that oxidative stress makes only a minor contribution to the TCDD-induced disorder of fetal steroidogenesis, and LA has a restorative effect by targeting on mechanism(s other than AhR activation. Following a metabolomic analysis, it was found that TCDD caused a more marked change in the hypothalamus, a pituitary regulator, than in the pituitary itself. Although the components of the tricarboxylic acid cycle and the ATP content of the fetal hypothalamus were significantly changed by TCDD, all these changes were again rectified by exogenous LA. We also provided evidence that the fetal hypothalamic content of endogenous LA is significantly reduced following maternal exposure to TCDD. Thus, the data obtained strongly suggest that TCDD reduces the expression of fetal pituitary gonadotropins to imprint sexual immaturity or disturb development by suppressing the level of LA, one of the key players serving energy production.

  18. Fetal motion estimation from noninvasive cardiac signal recordings.

    Science.gov (United States)

    Biglari, Hadis; Sameni, Reza

    2016-11-01

    Fetal motility is a widely accepted indicator of the well-being of a fetus. In previous research, it has be shown that fetal motion (FM) is coherent with fetal heart rate accelerations and an indicator for active/rest cycles of the fetus. The most common approach for FM and fetal heart rate (FHR) assessment is by Doppler ultrasound (DUS). While DUS is the most common approach for studying the mechanical activities of the heart, noninvasive fetal electrocardiogram (ECG) and magnetocardiogram (MCG) recording and processing techniques have been considered as a possible competitor (or complement) for the DUS. In this study, a fully automatic and robust framework is proposed for the extraction, ranking and alignment of fetal QRS-complexes from noninvasive fetal ECG/MCG. Using notions from subspace tracking, two measures, namely the actogram and rotatogram, are defined for fetal motion tracking. The method is applied to four fetal ECG/MCG databases, including twin MCG recordings. By defining a novel measure of causality, it is shown that there is significant coherency and causal relationship between the actogram/rotatogram and FHR accelerations/decelerations. Using this measure, it is shown that in many cases, the actogram and rotatogram precede the FHR variations, which supports the idea of motion-induced FHR accelerations/decelerations for these cases and raises attention for the non-motion-induced FHR variations, which can be associated to the fetal central nervous system developments. The results of this study can lead to novel perspectives of the fetal sympathetic and parasympathetic brain systems and future requirements of fetal cardiac monitoring.

  19. The Danish fetal medicine database

    DEFF Research Database (Denmark)

    Ekelund, Charlotte Kvist; Kopp, Tine Iskov; Tabor, Ann

    2016-01-01

    trimester ultrasound scan performed at all public hospitals in Denmark are registered in the database. Main variables/descriptive data: Data on maternal characteristics, ultrasonic, and biochemical variables are continuously sent from the fetal medicine units’Astraia databases to the central database via...... analyses are sent to the database. Conclusion: It has been possible to establish a fetal medicine database, which monitors first-trimester screening for chromosomal abnormalities and second-trimester screening for major fetal malformations with the input from already collected data. The database...

  20. MRI of the fetal abdomen

    International Nuclear Information System (INIS)

    Hoermann, M.; Brugger, P.C.; Witzani, L.; Prayer, D.

    2006-01-01

    Magnetic resonance imaging (MRI) is an important diagnostic component for central nervous system and thoracic diseases during fetal development. Although ultrasound remains the method of choice for observing the fetus during pregnancy, fetal MRI is being increasingly used as an additional technique for the accurate diagnosis of abdominal diseases. Recent publications confirm the value of MRI in the diagnosis of fetal gastrointestinal tract and urogenital system diseases. The following report provides an overview of MRI-examination techniques for the most frequent diseases of the abdomen. (orig.) [de

  1. Anatomy of the normal fetal heart: The basis for understanding fetal echocardiography

    Directory of Open Access Journals (Sweden)

    Beatriz Picazo-Angelin

    2018-01-01

    Full Text Available The rapid changes that have taken place in recent years in relation to techniques used to image the fetal heart have emphasized the need to have a detailed knowledge ofnormal cardiac anatomy. Without such knowledge, it is difficult, if not impossible, to recognize the multiple facets of congenital cardiac disease. From the inception of fetal echocardiographic screening, the importance of basic knowledge of cardiac anatomy has been well recognized. The current machines used for imaging, however, now make it possible potentially to recognize features not appreciated at the start of the specialty. So as to match the advances made in imaging, we have now revisited our understanding of normal cardiac anatomy in the mid-gestational fetus. This was made possible by our dissection of 10 fetal hearts, followed by production of addition histological sections that mimic the standard ultrasound views. The fetuses ranged in gestational age from between 20 and 28 weeks. We then correlated the obtained anatomic images with the corresponding ultrasonic images used in the standard fetal screening scan. We also interrogated the anatomic sections so as to clarify ongoing controversies regarding detailed features of the normal cardiac anatomy. We have been able to show that the views now obtained using current technology reveal many details of anatomy not always appreciated at earlier times. Knowledge of these features should now permit diagnosis of most congenital cardiac malformations. The anatomic-echocardiographic correlations additionally provide a valuable resource for both the understanding and teaching of fetal echocardiography.

  2. Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly

    Science.gov (United States)

    Hashami, Hilal Al; Bataclan, Maria F; Mathew, Mariam; Krishnan, Lalitha

    2010-01-01

    Caudal regression syndrome is a rare fetal condition of diabetic pregnancy. Although the exact mechanism is not known, hyperglycaemia during embryogenesis seems to act as a teratogen. Independently, caudal regression syndrome (CRS), agenesis of the corpus callosum (ACC) and partial lobar holoprosencephaly (HPE) have been reported in infants of diabetic mothers. To our knowledge, a combination of all these three conditions has not been reported so far. PMID:21509087

  3. Fetal Aortic Valvuloplasty for Evolving Hypoplastic Left Heart Syndrome: Postnatal Outcomes of the First 100 Patients

    Science.gov (United States)

    Freud, Lindsay R.; McElhinney, Doff B.; Marshall, Audrey C.; Marx, Gerald R.; Friedman, Kevin G.; del Nido, Pedro J.; Emani, Sitaram M.; Lafranchi, Terra; Silva, Virginia; Wilkins-Haug, Louise E.; Benson, Carol B.; Lock, James E.; Tworetzky, Wayne

    2015-01-01

    Background Fetal aortic valvuloplasty (FAV) can be performed for severe mid-gestation aortic stenosis (AS) in an attempt to prevent progression to hypoplastic left heart syndrome (HLHS). A subset of patients has achieved a biventricular (BV) circulation after FAV. The postnatal outcomes and survival of the BV patients, compared to those managed as HLHS, have not been reported. Methods and Results We included 100 patients who underwent FAV for severe mid-gestation AS with evolving HLHS from March 2000 to January 2013. Patients were categorized based on postnatal management as BV or HLHS. Clinical records were reviewed. Eighty-eight fetuses were live-born, and 38 had a BV circulation (31 from birth, 7 converted after initial univentricular palliation). Left-sided structures, namely aortic and mitral valve sizes and LV volume, were significantly larger in the BV group at the time of birth (p-values <0.01). After a median follow-up of 5.4 years, freedom from cardiac death among all BV patients was 96±4% at 5 years and 84±12% at 10 years, which was better than HLHS patients (log-rank p=0.04). There was no cardiac mortality in patients with a BV circulation from birth. All but 1 of the BV patients required postnatal intervention; 42% underwent aortic and/or mitral valve replacement. On most recent echocardiogram, the median LV end-diastolic volume z-score was +1.7 (range: -1.3, +8.2), and 80% had normal ejection fraction. Conclusions Short- and intermediate-term survival among patients who underwent FAV and achieved a BV circulation postnatally is encouraging. However, morbidity still exists, and on-going assessment is warranted. PMID:25052401

  4. Fetal programming of renal function.

    Science.gov (United States)

    Dötsch, Jörg; Plank, Christian; Amann, Kerstin

    2012-04-01

    Results from large epidemiological studies suggest a clear relation between low birth weight and adverse renal outcome evident as early as during childhood. Such adverse outcomes may include glomerular disease, hypertension, and renal failure and contribute to a phenomenon called fetal programming. Other factors potentially leading to an adverse renal outcome following fetal programming are maternal diabetes mellitus, smoking, salt overload, and use of glucocorticoids during pregnancy. However, clinical data on the latter are scarce. Here, we discuss potential underlying mechanisms of fetal programming, including reduced nephron number via diminished nephrogenesis and other renal (e.g., via the intrarenal renin-angiotensin-aldosterone system) and non-renal (e.g., changes in endothelial function) alterations. It appears likely that the outcomes of fetal programming may be influenced or modified postnatally, for example, by the amount of nutrients given at critical times.

  5. Fetal and neonatal mortality in patients with isolated congenital heart diseases and heart conditions associated with extracardiac abnormalities.

    Science.gov (United States)

    Marantz, Pablo; Sáenz Tejeira, M Mercedes; Peña, Gabriela; Segovia, Alejandra; Fustiñana, Carlos

    2013-10-01

    Congenital malformations are a known cause of intrauterine death; of them, congenital heart diseases (CHDs) are accountable for the highest fetal and neonatal mortality rates. They are strongly associated with other extracardiac malformations and an early fetal mortality. Two hundred and twenty fves cases of CHDs are presented. Of them, 155 were isolated CHDs (group A) and 70 were associated with extracardiac malformations, chromosomal disorders, or genetic syndromes (group B). The overall mortality in group B was higher than that observed in group A (p Heart diseases associated with extracardiac abnormalities had a higher mortality rate than isolated congenital heart diseases in the period up to 60 weeks of postmenstrual age (140 days post-term). No differences were observed between both groups of patients in terms of prenatal mortality.

  6. Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

    Science.gov (United States)

    Kammoun, Molka; Brady, Paul; De Catte, Luc; Deprest, Jan; Devriendt, Koenraad; Vermeesch, Joris Robert

    2018-03-01

    Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and intellectual disability. Here, we identify a patient with Nance-Horan syndrome caused by a new nonsense NHS variant. In addition, the patient presented congenital diaphragmatic hernia. NHS gene expression in murine fetal diaphragm was demonstrated, suggesting a possible involvement of NHS in diaphragm development. Congenital diaphragmatic hernia could result from NHS loss of function in pleuroperitoneal fold or in somites-derived muscle progenitor cells leading to an impairment of their cells migration.

  7. Adrenal hyperandrogenism is induced by fetal androgen excess in a rhesus monkey model of polycystic ovary syndrome.

    Science.gov (United States)

    Zhou, Rao; Bird, Ian M; Dumesic, Daniel A; Abbott, David H

    2005-12-01

    Adrenal androgen excess is found in approximately 25-60% of women with polycystic ovary syndrome (PCOS), but the mechanisms underlying PCOS-related adrenal androgen excess are unclear. The objective of this study was to determine whether adrenal androgen excess is manifest in a nonhuman primate model for PCOS. Six prenatally androgenized (PA) and six control female rhesus monkeys of similar age, body weight, and body mass index were studied during d 2-6 of two menstrual cycles or anovulatory 30-d periods. Predexamethasone adrenal steroid levels were assessed in the first cycle (cycle 1). In a subsequent cycle (cycle 2), occurring one to three cycles after cycle 1, adrenal steroids were determined 14.5-16.0 h after an i.m. injection of 0.5 mg/kg dexamethasone (postdexamethasone levels) and after an i.v. injection of 50 microg ACTH-(1-39). Both before and after dexamethasone, serum levels of dehydroepiandrosterone (DHEA) in PA females exceeded those in controls. After ACTH injection, PA females exhibited higher circulating levels of DHEA, androstenedione, and corticosterone but comparable levels of 17alpha-hydroxyprogesterone, cortisol, the sulfoconjugate of DHEA, and testosterone compared with controls. Enhanced basal and ACTH-stimulated adrenal androgen levels in PA female monkeys may reflect up-regulation of 17,20 lyase activity in the adrenal zona reticularis, causing adrenal androgen excess comparable with that found in PCOS women with adrenal androgen excess. These findings open the possibility that PCOS adrenal hyperandrogenism may have its origins in fetal androgen excess reprogramming of adrenocortical function.

  8. Hemophagocytic syndrome secondary to tuberculosis at 24-week gestation.

    Science.gov (United States)

    Fernández, Alexandra Arteaga; de Velasco Pérez, David Fernández; Fournier, M C Jiménez; Moreno Del Prado, J C; Torras, B Paraíso; Cañete Palomo, M L

    2017-01-01

    Hemophagocytic syndrome is a life-threatening disease characterized by the uncontrolled activation of macrophages, resulting in hemophagocytosis of blood cells in the bone marrow. A 20-year-old gravida at 23-week and 5-day gestation was admitted to hospital to evaluate fever up to 104°F of unknown origin, moderate cytopenia, and elevated levels of liver enzymes. Bone marrow biopsy confirmed hemophagocytic syndrome, and polymerase chain reaction came back positive for Mycobacterium tuberculosis. Supportive care and tuberculosis treatment resulted in clinical improvement. At 27 weeks and 5 days, premature rupture of the membranes occurred, and because of the high probability of reactivating the hemophagocytic syndrome, a cesarean section was performed at 29-week and 2-day gestation. Hemophagocytic syndrome is an uncommon disease which rarely appears during pregnancy. Early diagnosis and treatment can save both maternal and fetal lives.

  9. [Pregnancy in patients with renal transplantation: maternal and fetal morbidity].

    Science.gov (United States)

    Romero Arauz, Juan Fernando; Ayala Méndez, José Antonio; Jiménez Solís, Guillermo

    2008-11-01

    Preeclampsia is a multisystemic syndrome with unknown etiology and characterized by abnormal vascular placentation response. Patients with renal transplantation restore them fertility 10 months after the intervention. To evaluate incidence of preeclampsia and maternal-perinatal outcome in patients with renal transplantation. Comparative, observational and retrospective study performed in pregnant patients with renal transplantation, from December 1999 to April 2008 at Perinatology of Hypertensive Diseases Department of the Unidad Medica de Alta Especialidad de Ginecoobstetricia Luis Castelazo Ayala, IMSS. Davison' guide, descriptive statistic, and Fischer exact test were used. Thirty patients were analyzed, 27 cases satisfy Davison's recommended guidelines, and the rest did not achieve these criteria (p = 0.001). Preeclampsia occurred in 15 cases (50%), preterm delivery in 15 (50%), and fetal growth restriction in 6 (20%). Among the 11 patients with previous chronic hypertension, 8 developed superimposed preeclampsia (72%), and 9 had delivery before 37 weeks of gestation (82%). Malfunction of renal transplantation, before pregnancy, was associated with maternal and perinatal poor outcome (p = 0.006). There were no maternal deaths, but one perinatal (3%) Successful pregnancy is possible in patients with renal transplantation, however there is a high risk of preeclampsia, infection, and fetal growth restriction. Patients with renal transplantation must fulfill Davison's pre-pregnancy guidelines.

  10. Early thyroxine treatment in Down syndrome and thyroid function later in life

    NARCIS (Netherlands)

    Zwaveling-Soonawala, Nitash; Witteveen, M. Emma; Marchal, Jan Pieter; Klouwer, Femke C. C.; Ikelaar, Nadine A.; Smets, Anne M. J. B.; van Rijn, Rick R.; Endert, Erik; Fliers, Eric; van Trotsenburg, A. S. Paul

    2017-01-01

    Objective: The hypothalamus-pituitary-thyroid (HPT) axis set point develops during the fetal period and first two years of life. We hypothesized that thyroxine treatment during these first two years, in the context of a randomized controlled trial (RCT) in children with Down syndrome, may have

  11. Fetal MRI: An approach to practice: A review

    Directory of Open Access Journals (Sweden)

    Sahar N. Saleem

    2014-09-01

    Full Text Available MRI has been increasingly used for detailed visualization of the fetus in utero as well as pregnancy structures. Yet, the familiarity of radiologists and clinicians with fetal MRI is still limited. This article provides a practical approach to fetal MR imaging. Fetal MRI is an interactive scanning of the moving fetus owed to the use of fast sequences. Single-shot fast spin-echo (SSFSE T2-weighted imaging is a standard sequence. T1-weighted sequences are primarily used to demonstrate fat, calcification and hemorrhage. Balanced steady-state free-precession (SSFP, are beneficial in demonstrating fetal structures as the heart and vessels. Diffusion weighted imaging (DWI, MR spectroscopy (MRS, and diffusion tensor imaging (DTI have potential applications in fetal imaging. Knowing the developing fetal MR anatomy is essential to detect abnormalities. MR evaluation of the developing fetal brain should include recognition of the multilayered-appearance of the cerebral parenchyma, knowledge of the timing of sulci appearance, myelination and changes in ventricular size. With advanced gestation, fetal organs as lungs and kidneys show significant changes in volume and T2-signal. Through a systematic approach, the normal anatomy of the developing fetus is shown to contrast with a wide spectrum of fetal disorders. The abnormalities displayed are graded in severity from simple common lesions to more complex rare cases. Complete fetal MRI is fulfilled by careful evaluation of the placenta, umbilical cord and amniotic cavity. Accurate interpretation of fetal MRI can provide valuable information that helps prenatal counseling, facilitate management decisions, guide therapy, and support research studies.

  12. Linear and nonlinear features of fetal heart rate on the assessment of fetal development in the course of pregnancy and the impact of fetal gender.

    Science.gov (United States)

    Spyridou, K; Chouvarda, I; Hadjileontiadis, L; Maglaveras, N

    2018-01-30

    This work aims to investigate the impact of gestational age and fetal gender on fetal heart rate (FHR) tracings. Different linear and nonlinear parameters indicating correlation or complexity were used to study the influence of fetal age and gender on FHR tracings. The signals were recorded from 99 normal pregnant women in a singleton pregnancy at gestational ages from 28 to 40 weeks, before the onset of labor. There were 56 female fetuses and 43 male. Analysis of FHR shows that the means as well as measures of irregularity of FHR, such as approximate entropy and algorithmic complexity, decrease as gestation progresses. There were also indications that mutual information and multiscale entropy were lower in male fetuses in early pregnancy. Fetal age and gender seem to influence FHR tracings. Taking this into consideration would improve the interpretation of FHR monitoring.

  13. Management of Very Early-onset Fetal Growth Restriction: Results from 92 Consecutive Cases.

    Science.gov (United States)

    Hoellen, Friederike; Beckmann, Annika; Banz-Jansen, Constanze; Weichert, Jan; Rody, Achim; Bohlmann, Michael K

    2016-01-01

    To evaluate management of early-onset intrauterine growth restriction (IUGR) and to define outcome according to obstetric setting. During an 11-year period (2000-2011), data of patients presenting with IUGR and preterm delivery of less than 30 weeks of gestation at a tertiary perinatal center were retrospectively reviewed. A total of 92 pregnancies were investigated. Delivery was indicated for fetal reasons in 38 out of 92 patients. Sixteen children of our cohort died within one year post partum, out of which eight had suffered from severe early-onset IUGR causing iatrogenic preterm delivery. Concerning the fetal outcome, gestational age at delivery and antenatal exposure to corticosteroids were found to be crucial. In some cases, respiratory distress syndrome prophylaxis and a "wait and see" approach to management in favor of a prolongation of the pregnancy might be favorable. Randomized prospective trials in early-onset IUGR with threatened preterm deliveries are needed in order to define guidelines for an individually tailored management of early-onset preterm infants. Copyright © 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

  14. Awareness of fetal echo in Indian scenario

    International Nuclear Information System (INIS)

    Warrier, Dhanya; Saraf, Rahul; Maheshwari, Sunita; Suresh, PV; Shah, Sejal

    2012-01-01

    Fetal echocardiography is a well established sensitive tool to diagnose congenital heart disease (CHD) in utero. One of the determinants of effective utilization of fetal echocardiography is its awareness in the general population. The present hospital based study was undertaken to assess the awareness of the need for fetal echocardiography amongst Indian parents. One thousand one hundred and thirty eight consecutive parents who visited the pediatric cardiology outpatient department of a tertiary care centre over a period of two months were asked to fill up a questionnaire that included their demographic data, educational status, history of CHD in children, awareness of fetal echocardiography and source of information and timing of fetal echocardiogram if performed. The data was categorized and awareness was noted in different groups. The awareness in the study population was 2.2%. Awareness was found to be similar across the study population irrespective of the demographics and high risk status of the parents. The awareness of fetal echocardiography, an important tool in reducing the incidence of complex CHD, thereby impacting public health, is alarmingly low in the population studied. Appropriate action to increase awareness of fetal echocardiography needs to be looked into

  15. First Trimester Fetal Gender Assignment by Ultrasound

    Directory of Open Access Journals (Sweden)

    Sabahattin Altunyurt

    2010-03-01

    Full Text Available Objective: To investigate the efficiency of genital tubercule angle on detecting fetal gender in first trimester by ultrasonography. Material-Method: Fetal sex assignment by ultrasound was carried out in 172 pregnancies at 11-13+6 weeks between 2007 June and 2007 December. Gestational age was determined by the measurement of crown-rump length (CRL. The ultrasound predictions were compared with actual sex at birth. Mid-sagittal planes of a section of the fetal genital tubercle were performed to identify the gender. Results: 155 of 172 patients’ data were achieved. The overall success rate was 92.3 % in sonographic assignment of fetal sex. The correct assignment rate in female fetuses was significantly higher than males (95.9 % - 88.8 % [p=0,001]. The correct identification of fetal sex improved with advancing gestational age from 89.3 % between 11-11+6 weeks, 92.5 % between 12-12+6 weeks and 93.4 % between 13-13+6 weeks (p=0,96. Conclusion: The fetal sex assignment by ultrasonography between 11-13+6 weeks had high success rate. The sensitivity of fetal sex assignment was not affected with fetus position and gestational age.

  16. Fetal activity patterns in hypertensive pregnancies.

    Science.gov (United States)

    Rayburn, W F

    1982-01-01

    This prospective investigation attempts to determine whether the maternal recording of perceived fetal motion is useful for fetal assessment in pregnancies complicated by hypertension. During a 21 month period, 124 patients whose pregnancies were complicated by either chronic or pregnancy-induced hypertension participated. The number of perceived movements per hour (24 +/- 11, mean +/- S.D.) and evidence for fetal inactivity (7 cases, 6%) did not vary significantly from a control group of normotensive pregnancies (p greater than 0.05). Fetal inactivity was predictive of an unfavorable perinatal outcome in 6 of 7 cases, including the three stillborn infants. No perinatal deaths occurred among the 117 hypertensive pregnancies with active fetuses, and the 6 cases with an unfavorable outcome were associated with mild intrauterine growth delay, prematurity, or acute changes such as placental abruption or umbilical cord accidents. Realizing these limitations, a record of fetal inactivity is worthwhile in managing the pregnancy complicated by hypertension.

  17. Inequality in Fetal Autopsy in Canada.

    Science.gov (United States)

    Auger, Nathalie; Tiandrazana, Rémi-Claude; Healy-Profitós, Jessica; Costopoulos, André

    2016-01-01

    Inequality in use of fetal autopsy is poorly understood, despite the importance of autopsy in establishing the cause of stillbirth for future prevention. We examined fetal autopsy rates between linguistic minorities in Quebec, Canada, and assessed trends over three decades. Using registry data on 11,992 stillbirths from 1981-2011, we calculated fetal autopsy rates for Francophones, Anglophones, and Allophones by decade. We found lower fetal autopsy rates for Allophones (54.4%) than Francophones (68.5%) and Anglophones (63.4%), but rates decreased over time for all language groups. After 2000, Allophones had 25% higher risk of non-autopsy relative to Francophones, with 8.8 fewer autopsies for every 100 stillbirths. Allophones who were not autopsied had 32% higher risk of having an undetermined cause of death. Inequality in use of fetal autopsy may be widespread for minorities in Canada. Efforts to decrease stillbirth in minorities may require policies to increase autopsy rates.

  18. Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report.

    Science.gov (United States)

    Hashami, Hilal Al; Bataclan, Maria F; Mathew, Mariam; Krishnan, Lalitha

    2010-04-01

    Caudal regression syndrome is a rare fetal condition of diabetic pregnancy. Although the exact mechanism is not known, hyperglycaemia during embryogenesis seems to act as a teratogen. Independently, caudal regression syndrome (CRS), agenesis of the corpus callosum (ACC) and partial lobar holoprosencephaly (HPE) have been reported in infants of diabetic mothers. To our knowledge, a combination of all these three conditions has not been reported so far.

  19. mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome

    Directory of Open Access Journals (Sweden)

    Beatriz Puisac

    2017-02-01

    Full Text Available Cornelia de Lange syndrome (CdLS is a congenital developmental disorder characterized by craniofacial dysmorphia, growth retardation, limb malformations, and intellectual disability. Approximately 60% of patients with CdLS carry a recognizable pathological variant in the NIPBL gene, of which two isoforms, A and B, have been identified, and which only differ in the C-terminal segment. In this work, we describe the distribution pattern of the isoforms A and B mRNAs in tissues of adult and fetal origin, by qPCR (quantitative polymerase chain reaction. Our results show a higher gene expression of the isoform A, even though both seem to have the same tissue distribution. Interestingly, the expression in fetal tissues is higher than that of adults, especially in brain and skeletal muscle. Curiously, the study of fibroblasts of two siblings with a mild CdLS phenotype and a pathological variant specific of the isoform A of NIPBL (c.8387A > G; P.Tyr2796Cys, showed a similar reduction in both isoforms, and a normal sensitivity to DNA damage. Overall, these results suggest that the position of the pathological variant at the 3´ end of the NIPBL gene affecting only isoform A, is likely to be the cause of the atypical mild phenotype of the two brothers.

  20. Unexplained fetal death

    OpenAIRE

    Sepúlveda, Janer; Quintero, Eliana Maribel

    2004-01-01

    El porcentaje de muertes fetales inexplicadas oscila entre un 21% a 50%; se define como la muerte que ocurre en fetos con edad gestacional mayor de 20 semanas o peso superior a 500 g, en la cual ni la autopsia ni el examen histológico del cordón umbilical, placenta y membranas, se logra identificar la causa. Los factores asociados con muerte fetal inexplicada son edad materna mayor de 35 años, sobrepeso, nivel educativo menor de 10 años, cigarrillo y bajo nivel socioeconómico, entre otros. La...

  1. The World Health Organization Fetal Growth Charts

    DEFF Research Database (Denmark)

    Kiserud, Torvid; Piaggio, Gilda; Carroli, Guillermo

    2017-01-01

    BACKGROUND: Perinatal mortality and morbidity continue to be major global health challenges strongly associated with prematurity and reduced fetal growth, an issue of further interest given the mounting evidence that fetal growth in general is linked to degrees of risk of common noncommunicable...... longitudinal study of fetal growth in low-risk singleton pregnancies of women of high or middle socioeconomic status and without known environmental constraints on fetal growth. Centers in ten countries (Argentina, Brazil, Democratic Republic of the Congo, Denmark, Egypt, France, Germany, India, Norway...

  2. Ascitis fetal masiva idiopática aislada

    Directory of Open Access Journals (Sweden)

    Yolimar Navarro Briceño

    2016-08-01

    Full Text Available La ascitis fetal esta comúnmente asociada a malformaciones gastrointestinales y urinarias, anemia, infección y anomalías cromosómicas. La ascitis fetal masiva idiopática es rara. Se reporta un caso de una embarazada de 33 años referida a las 17 semanas después que se detectó ascitis en ausencia de anomalías estructurales. La evaluación cardiaca y las pruebas diagnósticas de infecciones virales fueron negativas. A las 28 semanas se detectó ascitis masiva sin otros signos de hidrops fetal. La velocidad sistólica pico de la arteria cerebral media fetal estaba elevada. El Doppler de la arteria umbilical, crecimiento fetal y volumen de líquido amniótico estaban normales. El ecocardiograma fetal estaba normal. Se realizó la amniocentesis con resultados normales del cariotipo. A pesar de la persistencia de la ascitis masiva durante el seguimiento, el crecimiento fetal y el volumen de líquido amniótico eran normales con valores elevados de la velocidad sistólica pico de la arteria cerebral media fetal. A las 33 semanas la paciente se realizó cesárea de emergencia por sufrimiento fetal agudo. Se obtuvo un recién nacido vivo femenino normal con valores normales de hemoglobina al nacer. El flujo vascular hepático, vesical y hepato-portal fueron normales. La ascitis se resolvió completamente al octavo día después del nacimiento y el recién nacido fue dado de alta a los 15 días.

  3. WHO multicentre study for the development of growth standards from fetal life to childhood: the fetal component.

    Science.gov (United States)

    Merialdi, Mario; Widmer, Mariana; Gülmezoglu, Ahmet Metin; Abdel-Aleem, Hany; Bega, George; Benachi, Alexandra; Carroli, Guillermo; Cecatti, Jose Guilherme; Diemert, Anke; Gonzalez, Rogelio; Hecher, Kurt; Jensen, Lisa N; Johnsen, Synnøve L; Kiserud, Torvid; Kriplani, Alka; Lumbiganon, Pisake; Tabor, Ann; Talegawkar, Sameera A; Tshefu, Antoinette; Wojdyla, Daniel; Platt, Lawrence

    2014-05-02

    In 2006 WHO presented the infant and child growth charts suggested for universal application. However, major determinants for perinatal outcomes and postnatal growth are laid down during antenatal development. Accordingly, monitoring fetal growth in utero by ultrasonography is important both for clinical and scientific reasons. The currently used fetal growth references are derived mainly from North American and European population and may be inappropriate for international use, given possible variances in the growth rates of fetuses from different ethnic population groups. WHO has, therefore, made it a high priority to establish charts of optimal fetal growth that can be recommended worldwide. This is a multi-national study for the development of fetal growth standards for international application by assessing fetal growth in populations of different ethnic and geographic backgrounds. The study will select pregnant women of high-middle socioeconomic status with no obvious environmental constraints on growth (adequate nutritional status, non-smoking), and normal pregnancy history with no complications likely to affect fetal growth. The study will be conducted in centres from ten developing and industrialized countries: Argentina, Brazil, Democratic Republic of Congo, Denmark, Egypt, France, Germany, India, Norway, and Thailand. At each centre, 140 pregnant women will be recruited between 8 + 0 and 12 + 6 weeks of gestation. Subsequently, visits for fetal biometry will be scheduled at 14, 18, 24, 28, 32, 36, and 40 weeks (+/- 1 week) to be performed by trained ultrasonographers.The main outcome of the proposed study will be the development of fetal growth standards (either global or population specific) for international applications. The data from this study will be incorporated into obstetric practice and national health policies at country level in coordination with the activities presently conducted by WHO to implement the use of the Child Growth Standards.

  4. [The advantages of early midtrimester targeted fetal systematic organ screening for the detection of fetal anomalies--will a global change start in Israel?].

    Science.gov (United States)

    Bronshtein, Moshe; Solt, Ido; Blumenfeld, Zeev

    2014-06-01

    Despite more than three decades of universal popularity of fetal sonography as an integral part of pregnancy evaluation, there is still no unequivocal agreement regarding the optimal dating of fetal sonographic screening and the type of ultrasound (transvaginal vs abdominal). TransvaginaL systematic sonography at 14-17 weeks for fetal organ screening. The evaluation of over 72.000 early (14-17 weeks) and late (18-24 weeks) fetal ultrasonographic systematic organ screenings revealed that 96% of the malformations are detectable in the early screening with an incidence of 1:50 gestations. Only 4% of the fetal anomalies are diagnosed later in pregnancy. Over 99% of the fetal cardiac anomalies are detectable in the early screening and most of them appear in low risk gestations. Therefore, we suggest a new platform of fetal sonographic evaluation and follow-up: The extensive systematic fetal organ screening should be performed by an expert sonographer who has been trained in the detection of fetal malformations, at 14-17 weeks gestation. This examination should also include fetal cardiac echography Three additional ultrasound examinations are suggested during pregnancy: the first, performed by the patient's obstetrician at 6-7 weeks for the exclusion of ectopic pregnancy, confirmation of fetal viability, dating, assessment of chorionicity in multiple gestations, and visualization of maternal adnexae. The other two, at 22-26 and 32-34 weeks, require less training and should be performed by an obstetrician who has been qualified in the sonographic detection of fetal anomalies. The advantages of early midtrimester targeted fetal systematic organ screening for the detection of fetal anomalies may dictate a global change.

  5. Amniocentesis for fetal lung maturity: will it become obsolete?

    Science.gov (United States)

    Varner, Stephen; Sherman, Craig; Lewis, David; Owens, Sheri; Bodie, Frankie; McCathran, C Eric; Holliday, Nicolette

    2013-01-01

    AMNIOCENTESIS FOR FETAL LUNG MATURITY HAS HISTORICALLY BEEN PERFORMED FOR MANY REASONS: uterine and placental complications, maternal comorbidities, fetal issues, and even obstetric problems. Even though the risks associated with third trimester amniocentesis are extremely low, complications have been documented, including preterm labor, placental abruptions, intrauterine rupture, maternal sepsis, fetal heart rate abnormalities, and fetal-maternal hemorrhage. This review presents the types of tests for fetal lung maturity, presents the indications and tests utilized, and discusses recommendations for when amniocentesis for fetal lung maturity may be appropriate.

  6. Ethanol-induced impairment of polyamine homeostasis – A potential cause of neural tube defect and intrauterine growth restriction in fetal alcohol syndrome

    International Nuclear Information System (INIS)

    Haghighi Poodeh, Saeid; Alhonen, Leena; Salonurmi, Tuire; Savolainen, Markku J.

    2014-01-01

    stage is so vulnerable to the development of neural tube defect, and growth restriction, the findings previously observed in fetal alcohol syndrome

  7. Ethanol-induced impairment of polyamine homeostasis – A potential cause of neural tube defect and intrauterine growth restriction in fetal alcohol syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Haghighi Poodeh, Saeid, E-mail: saeid.haghighi@oulu.fi [Institute of Clinical Medicine, Department of Internal Medicine, and Biocenter Oulu, University of Oulu, Oulu (Finland); Medical Research Center, Oulu University Hospital, Oulu (Finland); Alhonen, Leena [Department of Biotechnology and Molecular Medicine, A.I. Virtanen Institute for Molecular Sciences, Kuopio (Finland); School of Pharmacy, Biocenter Kuopio, University of Eastern Finland, Kuopio (Finland); Salonurmi, Tuire; Savolainen, Markku J. [Institute of Clinical Medicine, Department of Internal Medicine, and Biocenter Oulu, University of Oulu, Oulu (Finland); Medical Research Center, Oulu University Hospital, Oulu (Finland)

    2014-03-28

    stage is so vulnerable to the development of neural tube defect, and growth restriction, the findings previously observed in fetal alcohol syndrome.

  8. Bio-magnetic signatures of fetal breathing movement

    International Nuclear Information System (INIS)

    Ulusar, U D; Wilson, J D; Murphy, P; Govindan, R B; Preissl, H; Lowery, C L; Eswaran, H

    2011-01-01

    The purpose of fetal magnetoencephalography (fMEG) is to record and analyze fetal brain activity. Unavoidably, these recordings consist of a complex mixture of bio-magnetic signals from both mother and fetus. The acquired data include biological signals that are related to maternal and fetal heart function as well as fetal gross body and breathing movements. Since fetal breathing generates a significant source of bio-magnetic interference during these recordings, the goal of this study was to identify and quantify the signatures pertaining to fetal breathing movements (FBM). The fMEG signals were captured using superconducting quantum interference devices (SQUIDs) The existence of FBM was verified and recorded concurrently by an ultrasound-based video technique. This simultaneous recording is challenging since SQUIDs are extremely sensitive to magnetic signals and highly susceptible to interference from electronic equipment. For each recording, an ultrasound-FBM (UFBM) signal was extracted by tracing the displacement of the boundary defined by the fetal thorax frame by frame. The start of each FBM was identified by using the peak points of the UFBM signal. The bio-magnetic signals associated with FBM were obtained by averaging the bio-magnetic signals time locked to the FBMs. The results showed the existence of a distinctive sinusoidal signal pattern of FBM in fMEG data

  9. Fetal MRI: A Technical Update with Educational Aspirations.

    Science.gov (United States)

    Gholipour, Ali; Estroff, Judith A; Barnewolt, Carol E; Robertson, Richard L; Grant, P Ellen; Gagoski, Borjan; Warfield, Simon K; Afacan, Onur; Connolly, Susan A; Neil, Jeffrey J; Wolfberg, Adam; Mulkern, Robert V

    2014-11-01

    Fetal magnetic resonance imaging (MRI) examinations have become well-established procedures at many institutions and can serve as useful adjuncts to ultrasound (US) exams when diagnostic doubts remain after US. Due to fetal motion, however, fetal MRI exams are challenging and require the MR scanner to be used in a somewhat different mode than that employed for more routine clinical studies. Herein we review the techniques most commonly used, and those that are available, for fetal MRI with an emphasis on the physics of the techniques and how to deploy them to improve success rates for fetal MRI exams. By far the most common technique employed is single-shot T2-weighted imaging due to its excellent tissue contrast and relative immunity to fetal motion. Despite the significant challenges involved, however, many of the other techniques commonly employed in conventional neuro- and body MRI such as T1 and T2*-weighted imaging, diffusion and perfusion weighted imaging, as well as spectroscopic methods remain of interest for fetal MR applications. An effort to understand the strengths and limitations of these basic methods within the context of fetal MRI is made in order to optimize their use and facilitate implementation of technical improvements for the further development of fetal MR imaging, both in acquisition and post-processing strategies.

  10. Fetal MRI of pathological brain development

    International Nuclear Information System (INIS)

    Brugger, P.C.; Prayer, D.

    2006-01-01

    Because of the superior tissue contrast, high spatial resolution, and multiplanar capabilities, fetal magnetic resonance imaging (MRI) can depict fetal brain pathologies with high accuracy. Pathological fetal brain development may result from malformations or acquired conditions. Differentiation of these etiologies is important with respect to managing the actual pregnancy or counseling future pregnancies. As a widened ventricular system is a common hallmark of both maldevelopment and acquired conditions, it may cause problems in the differential diagnosis. Fetal MRI can provide detailed morphological information, which allows refinement of the diagnosis of ventricular enlargement in a large number of cases. Systematic work-up of morphological details that may be recognized on MR images provides an approach for achieving a correct diagnosis in cases of ventricle enlargement. (orig.) [de

  11. Atypical presentation of HELLP syndrome: clinical case report

    Directory of Open Access Journals (Sweden)

    Juan Manuel Tobar Parra

    2017-12-01

    Full Text Available Objective: To describe a case of HELLP syndrome with atypical presentation form. Background: HELLP syndrome is a complication of preeclampsia, characterized by: haemolysis, elevation of liver enzymes and thrombocytopenia; Can present atypical, without hypertension or proteinuria, 10-20% of the cases. Case report: 38 year old female patient, with a pregnancy of 38.5 weeks of gestation, treated at the Hospital Universitario San José de Popayán (Colombia. Atypical HELLP syndrome is diagnosed in a pregnant woman with thrombocytopenia, impaired liver enzymes, but no evidence of proteinuria or hypertension. Gestation is terminated by cesarean section and magnesium sulfate is given for 24 hours, with adequate post-surgical evolution, clinical improvement of the symptomatology presented, normalization of liver enzymes and platelet elevation. Conclusion: Knowledge of this syndrome, although of rare occurrence, allows a fast action, an effective diagnosis and treatment, to avoid morbidity and greater maternal fetal mortality.

  12. Fetal Ultrasound

    Science.gov (United States)

    ... isn't recommended simply to determine a baby's sex. Similarly, fetal ultrasound isn't recommended solely for the purpose of producing keepsake videos or pictures. If your health care provider doesn' ...

  13. Factors Affecting Estimated Fetal Weight Measured by Ultrasound

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    Hasan Energin

    2016-06-01

    Full Text Available Objective: In this study, we aimed to evaluate the fac­tors that affect the accuracy of estimated fetal weight in ultrasound. Methods: This study was conducted in 3rd degree hospi­tal antenatal outpatient clinic and perinatology inpatient clinic between June 2011 and January 2012. The data were obtained from 165 pregnant women. Inclusion cri­teria were; no additional diseases, giving birth within 48 hours after ultrasound. The same physician executed all ultrasound process. Age, height, weight, obstetric history and obstetric follow –up findings were recorded. Results: Fetal gender, fetal presentation, presence of meconium in amniotic fluid, maternal parity, did not sig­nificantly affect the accuracy of fetal weight estimation by ultrasound. The mean difference between estimated fetal weight and birth weight was 104.48±84 gr in nullipars and 94.2±81 gr in multipars (p=0.44; mean difference was 98.22±79 gr in male babies and 98.15±86 gr in female babies (p=0.99. Mean difference between estimated fetal weight and birth weight was 96.92±81 gr in babies with cephalic presentation and 110.9±90 gr in babies with breech presentation (p=0.53; this difference was 95.36±79 gr in babies with amniotic fluid with meconium and 98.82± 83 gr in babies with amniotic fluid without me­conium (p=0.83. Conclusion: Fetal weight is estimation is one of key points in the obstetrician’s intrapartum managament. And it is important to make fetal weight estimation accurately. In our study, consistent with literature, we observed that fetal gender; meconium presence in amniotic fluid, fetal presentation, maternal parity does not significantly effect the accuracy of fetal weight estimation by ultrasound.

  14. Studies in Fetal Behavior: Revisited, Renewed, and Reimagined

    Science.gov (United States)

    DiPietro, Janet A.; Costigan, Kathleen A.; Voegtline, Kristin M.

    2016-01-01

    Among the earliest volumes of this Monograph series was a report by Lester Sontag and colleagues, of the esteemed Fels Institute, on the heart rate of the human fetus as an expression of the developing nervous system. Here, some 75 years later, we commemorate this work and provide historical and contemporary context on knowledge regarding fetal development, as well as results from our own research. These are based on synchronized monitoring of maternal and fetal parameters assessed between 24 and 36 weeks gestation on 740 maternal-fetal pairs compiled from eight separate longitudinal studies, which commenced in the early 1990s. Data include maternal heart rate, respiratory sinus arrhythmia, and electrodermal activity and fetal heart rate, motor activity, and their integration. Hierarchical linear modeling of developmental trajectories reveals that the fetus develops in predictable ways consistent with advancing parasympathetic regulation. Findings also include: within-fetus stability (i.e., preservation of rank ordering over time) for heart rate, motor, and coupling measures; a transitional period of decelerating development near 30 weeks gestation; sex differences in fetal heart rate measures but not in most fetal motor activity measures; modest correspondence in fetal neurodevelopment among siblings as compared to unrelated fetuses; and deviations from normative fetal development in fetuses affected by intrauterine growth restriction and other conditions. Maternal parameters also change during this period of gestation and there is evidence that fetal sex and individual variation in fetal neurobehavior influence maternal physiological processes and the local intrauterine context. Results are discussed within the framework of neuromaturation, the emergence of individual differences, and the bidirectional nature of the maternal-fetal relationship. We pose a number of open questions for future research. Although the human fetus remains just out of reach, new

  15. [THE FETAL MIDDLE CEREBRAL ARTERY PEAK SYSTOLIC VELOCITY AS A PEDICTOR OF FETAL ANEMIA IN RH-ALLOIMMUNIZED PREGNANCY].

    Science.gov (United States)

    Markov, D; Pavlova, E; Atanassova, D; Diavolov, V; Hitrova, S; Vakrilova, L; Pramatarova, T; Slancheva, B; Ivanov, St

    2015-01-01

    Rh-isoimmunization is a pathological condition in which the fetal red blood cells of a Rh (+) fetus are destroyed by the isoantibodies of a Rh (-) woman sensitized in a previous event. Despite of the wide spread implementation of anti D-gammaglobolin prophylaxis this is still the most common cause for fetal anemia. Recently, sonographic measurement of the fetal middle cerebral artery peak systolic velocity (MCA-PSV) has been shown to be an accurate non-invasive test to predict low fetal hemoglobin levels. We present a case report of Rh-alloimmunized pregnancy with moderate fetal anemia, followed-up by weekly MCA-PSV measurements. A 37-year-old Rh (-) negative gravida 3, para 1, without anti-D gammaglobolin prophylaxis in her previous pregnancies, presented at 27+0 weeks of gestation (w.g.) for a routine third trimester scan. Subsequent ultrasound measurements of MCA-PSV confirmed a progressive increase of the peak systolic velocities from 40 to 80 cm/sec, as well as a gradual rise in the anti-D titers. The evidence of developing fetal anemia necessitated elective Caesarean section performed at 35 wg. The neonate was admitted in the intensive care unit and required resuscitation, one exchange blood transfusion and several courses of phototherapy. The patient was discharged two weeks post partum. There is a strong correlation between the high peak systolic velocities in the middle cerebral artery (MCA-PSV) and the low levels of fetal hemoglobin. The high sensitivity and positive predictive value concerning the development of fetal anemia, as well as its good repeatability, makes this non-invasive test a valuable asset in the management of all pregnancies complicated by severe Rh-alloimmunization.

  16. Hemophagocytic syndrome secondary to tuberculosis at 24-week gestation

    Directory of Open Access Journals (Sweden)

    Alexandra Arteaga Fernández

    2017-01-01

    Full Text Available Hemophagocytic syndrome is a life-threatening disease characterized by the uncontrolled activation of macrophages, resulting in hemophagocytosis of blood cells in the bone marrow. A 20-year-old gravida at 23-week and 5-day gestation was admitted to hospital to evaluate fever up to 104°F of unknown origin, moderate cytopenia, and elevated levels of liver enzymes. Bone marrow biopsy confirmed hemophagocytic syndrome, and polymerase chain reaction came back positive for Mycobacterium tuberculosis. Supportive care and tuberculosis treatment resulted in clinical improvement. At 27 weeks and 5 days, premature rupture of the membranes occurred, and because of the high probability of reactivating the hemophagocytic syndrome, a cesarean section was performed at 29-week and 2-day gestation. Hemophagocytic syndrome is an uncommon disease which rarely appears during pregnancy. Early diagnosis and treatment can save both maternal and fetal lives.

  17. Biomedical Instruments for Fetal and Neonatal Surveillance

    International Nuclear Information System (INIS)

    Rolfe, P; Scopesi, F; Serra, G

    2006-01-01

    Specialised instruments have been developed to aid the care of the fetus and the newborn baby. Miniature sensors using optical, electrical, chemical, mechanical and magnetic principles have been produced for capturing key measurands. These include temperature, pressure, flow and dimension, as well as several specific molecules such as glucose, oxygen and carbon dioxide. During pregnancy ultrasound imaging and blood flow techniques provide valuable information concerning fetal abnormalities, fetal growth, fetal breathing and fetal heart rate. Signal processing and pattern recognition can be useful for deriving indicators of fetal distress and clinical status, based on biopotentials as well as ultrasound signals. Fetal pH measurement is a critical requirement during labour and delivery. The intensive care of ill preterm babies involves provision of an optimal thermal environment and respiratory support. Monitoring of blood gas and acid-base status is essential, and this involves both blood sampling for in vitro analysis as well as the use of invasive or non-invasive sensors. For the future it will be vital that the technologies used are subjected to controlled trials to establish benefit or otherwise

  18. Syndromes and Disorders Associated with Omphalocele (I: Beckwith–Wiedemann Syndrome

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-06-01

    Full Text Available Beckwith–Wiedemann syndrome (BWS, OMIM 130650 is characterized by macrosomia, macroglossia, visceromegaly, hemihypertrophy, abdominal wall defects, ear creases/pits, neonatal hypoglycemia, polyhydramnios, placentomegaly, placental mesenchymal dysplasia, cardiac defects, nevus flammeus, hemangiomata, and an increased frequency of embryonal tumors. This article provides an overview of BWS including the genetics, genetic diagnosis, genotype/epigenotype–phenotype correlations, association with assisted reproductive technology, and prenatal diagnosis. Omphalocele is an important sonographic marker for BWS. Prenatal detection of omphalocele, fetal overgrowth, polyhydramnios, increased abdominal circumference, placentomegaly and/or placental mesenchymal dysplasia should alert one to the possibility of BWS and prompt a genetic investigation and counseling for BWS.

  19. A study on maternal-fetal attachment in pregnant women undergoing fetal echocardiography

    Directory of Open Access Journals (Sweden)

    Concetta Polizzi

    2017-03-01

    Full Text Available Purpose: To investigate the possible effects of the fetal echocardiography experience on the prenatal attachment process. The predictive effect of specific women’s psychological variables will be explored as well.Design and methods: This between groups study involved 85 women with pregnancy at risk who underwent the fetal echocardiography, and 83 women who were about to undergo the morphological scan. The tools employed were: the Prenatal Attachment Inventory (P.A.I. to explore the maternal-fetal attachment; the Maternity Social Support Scale to investigate the woman perception of being socially supported during pregnancy; both the Big Five Questionnaire and the FACES III to explore the personality traits of pregnant women and their perception of their couple relationship functioning.Findings: The outcomes of ANOVA do not show statistically significant differences between the two groups of the mothers-to-be with regard to the scores of the P.A.I. (F = .017; p = .897; η2 = .000, while the regression analysis of the possible effect of the maternal psychological variables on the mother-fetus relationship shows a statistically significant result only with regard to the “social support” variable (r2 = .061; df = 80; p = .025.Conclusions: It would seem that the process of the prenatal attachment develops independently whether the woman has to undergo a first level screening or a second level examination such as the fetal echocardiography.

  20. Digital communication with fetal monitors.

    Science.gov (United States)

    Bozóki, Z

    1997-11-01

    Fetal heart rate (FHR) values in the averaged format that are provided by commercial computed cardiotocography analysis systems may be unsuitable for special analysis purposes. I developed a communication software program to obtain any measured values of fetal monitors for individual analysis of computed cardiotocography. The software program was used to study the data continuity of beat-to-beat FHR values as an experiment for chaos theory and power spectrum analysis. The results indicated that the signal loss was recognized at a precision of 95%. The described method of digital communication with fetal monitors was found to be useful for individual purposes in the field of computed cardiotocography analysis.

  1. Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.

    Science.gov (United States)

    Ballini, Andrea; Cantore, Stefania; Tullo, Domenica; Desiate, Apollonia

    2011-01-27

    Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds. We describe the craniofacial and dental characteristics of a 12-year-old Caucasian Italian boy with both the typical and less common findings of Dubowitz syndrome. Diagnosis of Dubowitz syndrome is mainly based on the facial phenotype. Possible conditions for differential diagnosis include Bloom syndrome, Smith-Lemli-Opitz syndrome, and fetal alcohol syndrome. As there are few reports of this syndrome in the literature, we hope this case report will enable health professionals to recognize the phenotypic alterations of this syndrome, and allow early referral for the necessary multidisciplinary treatments.

  2. Cryptophthalmos and Bilateral Renal Agenesis with Cleft Lip and Palate: Fraser Syndrome: Case Report

    Directory of Open Access Journals (Sweden)

    Emre Pabuçcu

    2012-12-01

    Full Text Available Fraser syndrome is a rare autosomal recessive disorder consisting of multiple anomalies including variable expression of cryptophthalmos, syndactyly, abnormal genitalia, malformations of the nose, ear and larynx, renal agenesis, oro-facial clefts, skeletal defects, umbilical hernia and mental retardation. Antenatally detected multiple congenital fetal anomalies during 22nd week of gestation is reported in this paper. Fraser Syndrome was diagnosed according to major and minor criteria. Early antenatal detection is mandatory and clinician should be awere of the high recurrence rates of this syndrome among siblings threatening subsequent pregnancies and should inform affected families.

  3. Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis.

    Directory of Open Access Journals (Sweden)

    Paolo Guanciali Franchi

    Full Text Available From January 1st 2013 to August 31st 2016, 24408 pregnant women received the first trimester Combined test and contingently offered second trimester maternal serum screening to identify those women who would most benefit from invasive prenatal diagnosis (IPD. The screening was based on first trimester cut-offs of ≥1:30 (IPD indicated, 1:31 to 1:899 (second trimester screening indicated and ≤1:900 (no further action, and a second trimester cut-off of ≥1:250. From January 2014, analysis of fetal cells from peripheral maternal blood was also offered to women with positive screening results. For fetal Down syndrome, the overall detection rate was 96.8% for a false-positive rate of 2.8% resulting in an odds of being affected given a positive result (OAPR of 1:11, equivalent to a positive predictive value (PPV of 8.1%. Additional chromosome abnormalities were also identified resulting in an OAPR for any chromosome abnormality of 1:6.6 (PPV 11.9%. For a sub-set of cases with positive contingent test results, FISH analysis of circulating fetal cells in maternal circulation identified 7 abnormal and 39 as normal cases with 100% specificity and 100% sensitivity. We conclude that contingent screening using conventional Combined and second trimester screening tests is effective but can potentially be considerably enhanced through the addition of fetal cell analysis.

  4. A transcriptome-wide screen for mRNAs enriched in fetal Leydig cells: CRHR1 agonism stimulates rat and mouse fetal testis steroidogenesis.

    Directory of Open Access Journals (Sweden)

    Erin N McDowell

    Full Text Available Fetal testis steroidogenesis plays an important role in the reproductive development of the male fetus. While regulators of certain aspects of steroidogenesis are known, the initial driver of steroidogenesis in the human and rodent fetal testis is unclear. Through comparative analysis of rodent fetal testis microarray datasets, 54 candidate fetal Leydig cell-specific genes were identified. Fetal mouse testis interstitial expression of a subset of these genes with unknown expression (Crhr1, Gramd1b, Itih5, Vgll3, and Vsnl1 was verified by whole-mount in situ hybridization. Among the candidate fetal Leydig cell-specific factors, three receptors (CRHR1, PRLR, and PROKR2 were tested for a steroidogenic function using ex vivo fetal testes treated with receptor agonists (CRH, PRL, and PROK2. While PRL and PROK2 had no effect, CRH, at low (approximately 1 to 10 nM concentration, increased expression of the steroidogenic genes Cyp11a1, Cyp17a1, Scarb1, and Star in GD15 mouse and GD17 rat testes, and in conjunction, testosterone production was increased. Exposure of GD15 fetal mouse testis to a specific CRHR1 antagonist blunted the CRH-induced steroidogenic gene expression and testosterone responses. Similar to ex vivo rodent fetal testes, ≥ 10 nM CRH exposure of MA-10 Leydig cells increased steroidogenic pathway mRNA and progesterone levels, showing CRH can enhance steroidogenesis by directly targeting Leydig cells. Crh mRNA expression was observed in rodent fetal hypothalamus, and CRH peptide was detected in rodent amniotic fluid. Together, these data provide a resource for discovering factors controlling fetal Leydig cell biology and suggest that CRHR1 activation by CRH stimulates rat and mouse fetal Leydig cell steroidogenesis in vivo.

  5. A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome

    Directory of Open Access Journals (Sweden)

    Nihat Demir

    2015-01-01

    Full Text Available Short-rib polydactyly syndrome is an autosomal recessively inherited lethal skeletal dysplasia. The syndrome is characterized by marked narrow fetal thorax, short extremities, micromelia, cleft palate/lip, polydactyly, cardiac and renal abnormalities, and genital malformations. In cases with pulmonary hypoplasia, persistent pulmonary hypertension of the newborn can develop. In this paper, we present a term newborn with persistent pulmonary hypertension of the newborn, which has developed secondary to short-rib polydactyly syndrome and was resistant to therapy with inhaled nitric oxide and oral sildenafil.

  6. Maternal obesity accelerates fetal pancreatic beta-cell but not alpha-cell development in sheep: prenatal consequences.

    Science.gov (United States)

    Ford, Stephen P; Zhang, Liren; Zhu, Meijun; Miller, Myrna M; Smith, Derek T; Hess, Bret W; Moss, Gary E; Nathanielsz, Peter W; Nijland, Mark J

    2009-09-01

    Maternal obesity affects offspring weight, body composition, and organ function, increasing diabetes and metabolic syndrome risk. We determined effects of maternal obesity and a high-energy diet on fetal pancreatic development. Sixty days prior to breeding, ewes were assigned to control [100% of National Research Council (NRC) recommendations] or obesogenic (OB; 150% NRC) diets. At 75 days gestation, OB ewes exhibited elevated insulin-to-glucose ratios at rest and during a glucose tolerance test, demonstrating insulin resistance compared with control ewes. In fetal studies, ewes ate their respective diets from 60 days before to 75 days after conception when animals were euthanized under general anesthesia. OB and control ewes increased in body weight by approximately 43% and approximately 6%, respectively, from diet initiation until necropsy. Although all organs were heavier in fetuses from OB ewes, only pancreatic weight increased as a percentage of fetal weight. Blood glucose, insulin, and cortisol were elevated in OB ewes and fetuses on day 75. Insulin-positive cells per unit pancreatic area were 50% greater in fetuses from OB ewes as a result of increased beta-cell mitoses rather than decreased programmed cell death. Lambs of OB ewes were born earlier but weighed the same as control lambs; however, their crown-to-rump length was reduced, and their fat mass was increased. We conclude that increased systemic insulin in fetuses from OB ewes results from increased glucose exposure and/or cortisol-induced accelerated fetal beta-cell maturation and may contribute to premature beta-cell function loss and predisposition to obesity and metabolic disease in offspring.

  7. Telefetalcare: a first prototype of a wearable fetal electrocardiograph.

    Science.gov (United States)

    Fanelli, A; Signorini, M G; Ferrario, M; Perego, P; Piccini, L; Andreoni, G; Magenes, G

    2011-01-01

    Fetal heart rate monitoring is fundamental to infer information about fetal health state during pregnancy. The cardiotocography (CTG) is the most common antepartum monitoring technique. Abdominal ECG recording represents the most valuable alternative to cardiotocography, as it allows passive, non invasive and long term fetal monitoring. Unluckily fetal ECG has low SNR and needs to be extracted from abdominal recordings using ad hoc algorithms. This work describes a prototype of a wearable fetal ECG electrocardiograph. The system has flat band frequency response between 1-60 Hz and guarantees good signal quality. It was tested on pregnant women between the 30(th) and 34(th) gestational week. Several electrodes configurations were tested, in order to identify the best solution. Implementation of a simple algorithm for FECG extraction permitted the reliable detection of maternal and fetal QRS complexes. The system will allow continuative and deep screening of fetal heart rate, introducing the possibility of home fetal monitoring.

  8. Cholesterol synthesis by human fetal hepatocytes: effect of lipoproteins

    International Nuclear Information System (INIS)

    Carr, B.R.; Simpson, E.R.

    1984-01-01

    The purpose of the present investigation was to determine the effect of various lipoproteins on the rate of cholesterol synthesis of human fetal liver cells maintained in culture. This was accomplished by measuring the rate of incorporation of tritium from tritiated water or carbon 14-labeled acetate into cholesterol in human fetal liver cells. Optimal conditions for each assay were determined. When human fetal liver cells were maintained in the presence of low-density lipoprotein, cholesterol synthesis was inhibited in a concentration-dependent fashion. Intermediate--density lipoprotein and very-low-density lipoprotein also suppressed cholesterol synthesis in human fetal liver cells. In contrast, high-density lipoprotein stimulated cholesterol synthesis in human fetal liver cells. The results of the present as well as our previous investigations suggest that multiple interrelationships exist between fetal liver cholesterol synthesis and lipoprotein-cholesterol utilization by the human fetal adrenal gland and that these processes serve to regulate the lipoprotein-cholesterol levels in fetal plasma

  9. Fetal neonatal hyperthyroidism: diagnostic and therapeutic approachment

    Science.gov (United States)

    Kurtoğlu, Selim; Özdemir, Ahmet

    2017-01-01

    Fetal and neonatal hyperthyroidism may occur in mothers with Graves’ disease. Fetal thyrotoxicosis manifestation is observed with the transition of TSH receptor stimulating antibodies to the fetus from the 17th–20th weeks of pregnancy and with the fetal TSH receptors becoming responsive after 20 weeks. The diagnosis is confirmed by fetal tachycardia, goiter and bone age advancement in pregnancy and maternal treatment is conducted in accordance. The probability of neonatal hyperthyroidism is high in the babies of mothers that have ongoing antithyroid requirement and higher antibody levels in the last months of pregnancy. Clinical manifestation may be delayed by 7–17 days because of the antithyroid drugs taken by the mother. Neonatal hyperthyroidism symptoms can be confused with sepsis and congenital viral infections. Herein, the diagnosis and therapeutic approach are reviewed in cases of fetal neonatal hyperthyroidism. PMID:28439194

  10. MRI of normal and pathological fetal lung development

    International Nuclear Information System (INIS)

    Kasprian, Gregor; Balassy, Csilla; Brugger, Peter C.; Prayer, Daniela

    2006-01-01

    Normal fetal lung development is a complex process influenced by mechanical and many biochemical factors. In addition to ultrasound, fetal magnetic resonance imaging (MRI) constitutes a new method to investigate this process in vivo during the second and third trimester. The techniques of MRI volumetry, assessment of signal intensities, and MRI spectroscopy of the fetal lung have been used to analyze this process and have already been applied clinically to identify abnormal fetal lung growth. Particularly in conditions such as oligohydramnios and congenital diaphragmatic hernia (CDH), pulmonary hypoplasia may be the cause of neonatal death. A precise diagnosis and quantification of compromised fetal lung development may improve post- and perinatal management. The main events in fetal lung development are reviewed and MR volumetric data from 106 normal fetuses, as well as different examples of pathological lung growth, are provided

  11. MRI of normal and pathological fetal lung development

    Energy Technology Data Exchange (ETDEWEB)

    Kasprian, Gregor [University Clinic of Radiodiagnostics, Medical University of Vienna (Austria)]. E-mail: gregor.kasprian@meduniwien.ac.at; Balassy, Csilla [University Clinic of Radiodiagnostics, Medical University of Vienna (Austria); Brugger, Peter C. [Center of Anatomy and Cell Biology, Medical University of Vienna (Austria); Prayer, Daniela [University Clinic of Radiodiagnostics, Medical University of Vienna (Austria)

    2006-02-15

    Normal fetal lung development is a complex process influenced by mechanical and many biochemical factors. In addition to ultrasound, fetal magnetic resonance imaging (MRI) constitutes a new method to investigate this process in vivo during the second and third trimester. The techniques of MRI volumetry, assessment of signal intensities, and MRI spectroscopy of the fetal lung have been used to analyze this process and have already been applied clinically to identify abnormal fetal lung growth. Particularly in conditions such as oligohydramnios and congenital diaphragmatic hernia (CDH), pulmonary hypoplasia may be the cause of neonatal death. A precise diagnosis and quantification of compromised fetal lung development may improve post- and perinatal management. The main events in fetal lung development are reviewed and MR volumetric data from 106 normal fetuses, as well as different examples of pathological lung growth, are provided.

  12. Births and deaths including fetal deaths

    Data.gov (United States)

    U.S. Department of Health & Human Services — Access to a variety of United States birth and death files including fetal deaths: Birth Files, 1968-2009; 1995-2005; Fetal death file, 1982-2005; Mortality files,...

  13. Prenatal smoking exposure and asymmetric fetal growth restriction

    NARCIS (Netherlands)

    Delpisheh, Ali; Brabin, Loretta; Drummond, Sandra; Brabin, Bernard J.

    2008-01-01

    Background: Prenatal smoking exposure causes intrauterine fetal growth restriction ( IUGR), although its effects on fetal proportionality are less clearly defined. Aim: The present study assessed fetal proportionality in babies with IUGR using maternal salivary cotinine to indicate maternal smoking

  14. Fetal bilateral renal agenesis, phocomelia, and single umbilical artery associated with cocaine abuse in early pregnancy.

    Science.gov (United States)

    Kashiwagi, Maki; Chaoui, Rabih; Stallmach, Thomas; Hürlimann, Sandra; Lauper, Urs; Hebisch, Gundula

    2003-11-01

    Maternal cocaine abuse in pregnancy is associated with complications such as intrauterine growth retardation, abruptio placentae, and preterm delivery. We report what is, to our knowledge, the first published observation of fetal bilateral renal agenesis associated with a vascular disruption syndrome comprising upper limb reduction defect and a single umbilical artery following maternal cocaine abuse in early pregnancy. This constellation in a fetus aborted at 18 weeks extends the spectrum of complications possibly associated with cocaine abuse in pregnancy. Copyright 2003 Wiley-Liss, Inc.

  15. The Prevalence of Fetal Alcohol Syndrome and Its Impact on a Child's Classroom Performance: A Case Study of a Rural South African School.

    Science.gov (United States)

    Lubbe, Melissa; van Walbeek, Corné; Vellios, Nicole

    2017-08-09

    Alcohol consumption is high among farm labourers in the Western and Northern Cape of South Africa. Excessive alcohol consumption during pregnancy is common, resulting in a high prevalence of Fetal Alcohol Syndrome (FAS) among children. FAS causes intellectual and behavioural problems, which create considerable obstacles to a child's education. The aim of this study is to provide a prevalence estimate of FAS in a rural school and to examine the effects of FAS on learners' educational outcomes. The study was conducted at a farm school near Clanwilliam in the Western Cape of South Africa. The sample comprises 166 learners from Grades 1 to 4. Educational outcomes include class scores (Afrikaans Home Language and Mathematics), reading ability, and classroom behaviour. A physician diagnosed FAS using a three-stage process. We find FAS prevalence of 127 per 1000 (12.7%). Children with FAS score significantly lower (at the 10% level) for home language and behaviour than children who do not have FAS. Large-scale interventions in rural areas of the Western and Northern Cape that specifically target females of child-bearing age, as well aschildren with FAS, are necessary.

  16. Further evidence of the etiology of prune belly syndrome provided by a transient massive intraabdominal cyst in a female.

    Science.gov (United States)

    Wijesinghe, Uddaka S; Muthucumaru, Mathievathaniy; Beasley, Spencer W

    2016-08-01

    We present a female neonate born with prune belly syndrome (PBS) in whom a large intraabdominal cyst was diagnosed at 12weeks of gestation. Rapid and exponential growth of the cyst caused pressure effects on the intraabdominal organs and stretching of the anterior abdominal wall by 19weeks of gestation. This led to drainage of the massive cyst at 20weeks of gestation to prevent fetal demise. This case provides further clues to the likely etiology of PBS: transient stretching and attenuation of the fetal abdominal wall secondary to gross fetal abdominal distension - from any cause. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. The origin of fetal sterols in second-trimester amniotic fluid : endogenous synthesis or maternal-fetal transport?

    NARCIS (Netherlands)

    Baardman, Maria E.; Erwich, Jan Jaap H. M.; Berger, Rolf M. F.; Hofstra, Robert M. W.; Kerstjens-Frederikse, Wilhelmina S.; Luetjohann, Dieter; Plosch, Torsten; Lutjohann, D.

    OBJECTIVE: Cholesterol is crucial for fetal development. To gain more insight into the origin of the fetal cholesterol pool in early human pregnancy, we determined cholesterol and its precursors in the amniotic fluid of uncomplicated, singleton human pregnancies. STUDY DESIGN: Total sterols were

  18. Antiphospholipid and antioangiogenic activity in females with recurrent miscarriage and antiphospholipid syndrome.

    Science.gov (United States)

    Pelusa, Hector F; Pezzarini, Eleonora; Basiglio, Cecilia L; Musuruana, Jorge; Bearzotti, Mariela; Svetaz, María J; Daniele, Stella M; Bottai, Hebe; Arriaga, Sandra Mm

    2017-09-01

    Background Antiphospholipid syndrome is an autoimmune disease characterized by thrombosis, fetal losses and thrombocytopenia associated to antiphospholipid antibodies. They are directed to phospholipids, such as cardiolipins (anticardiolipin) and lupus anticoagulant or to complexes formed by phospholipids and protein cofactors, such as β2 glycoprotein 1 (a-β2GP1) and annexin V (a-annexin V). These auto-antibodies may be considered as a family of antibodies involved in thrombotic events and antiphospholipid activity. On the other hand, some proangiogenic factors are involved in the normal development of placental vasculature, such as the vascular endothelial growth factor. Overexpression of vascular endothelial growth factor receptor in its soluble form (sVEGFR-1) has been associated to a higher antiangiogenic activity. Our aim was to analyse the association between anticardiolipin, lupus anticoagulant, a-β2GP1, a-annexin V and sVEGFR-1 with recurrent miscarriage before week 10 of gestation in females with antiphospholipid syndrome. Methods We studied 24 females (primary or secondary antiphospholipid syndrome), who were divided into two groups: females with recurrent miscarriage before week 10 of gestation (M; n = 12) and females with no history of fetal loss (NM; n = 12). Anticardiolipin, a-β2GP1, a-annexin V and sVEGF-R1 concentrations were assessed by ELISA, while lupus anticoagulant was assessed by screening and confirmatory tests. Results A significant association was observed between the number of positive biomarkers and the belonging group ( P antiphospholipid syndrome.

  19. Amniotic band syndrome: A clinical brief

    Directory of Open Access Journals (Sweden)

    Dasaradha Ramireddy Malireddy

    2017-01-01

    Full Text Available Amniotic band syndrome (ABS results from bands of amnion entangling fetal parts. They may manifest as constriction rings or complex congenital anomalies resulting in stillbirth. Karyotyping is important for exclusion of inherited disorders and proper counseling. Two case reports one stillbirth and the other with constriction ring of fingers and mild hydronephrosis are presented. The aim of this paper is to make awareness and stress the need for doing thorough work-up in all cases of constriction bands.

  20. Nelson's syndrome in pregnancy

    Energy Technology Data Exchange (ETDEWEB)

    Surrey, E.S.; Chang, R.J.

    1985-10-01

    The therapeutic considerations in the management of Nelson's syndrome in a 29 year old primigravida are described. CT scans revealed a 2-cm solid pituitary lesion with suprasellar extension and chiasmatic encroachment. A transsphenoidal hypophysectomy was performed to remove a eosinophilic pituitary adenoma. The patient's symptoms improved following surgery. Fetal growth was followed by ultrasound and a female infant was delivered by cesarean section. Follow-up CT scan 2 weeks after delivery revealed no evidence of tumor recurrence.

  1. First trimester screening for Down syndrome and assisted reproduction: no basis for concern

    DEFF Research Database (Denmark)

    Wøjdemann, K R; Larsen, S O; Shalmi, A

    2001-01-01

    In pregnancies obtained after assisted reproduction the false-positive rate of second trimester Down syndrome (DS) screening is increased by 1.5-3-fold. This may cause an increase in the number of amniocenteses and the fetal loss rate. The present study for the first time examined whether assiste...

  2. Maternal-fetal hepatic and placental metabolome profiles are associated with reduced fetal growth in a rat model of maternal obesity

    DEFF Research Database (Denmark)

    Mumme, Karen; Gray, Clint; Reynolds, Clare M.

    2016-01-01

    : Metabolomic profiling was used to reveal altered maternal and fetal metabolic pathways in a model of diet induced obesity during pregnancy, leading to reduced fetal growth. Methods: We examined the metabolome of maternal and fetal livers, and placenta following a high fat and salt intake. Sprague–Dawley rats...

  3. Controversies concerning the antiphospholipid syndrome in obstetrics.

    Science.gov (United States)

    Camarena Cabrera, Dulce María Albertina; Rodriguez-Jaimes, Claudia; Acevedo-Gallegos, Sandra; Gallardo-Gaona, Juan Manuel; Velazquez-Torres, Berenice; Ramírez-Calvo, José Antonio

    Antiphospholipid antibody syndrome is a non-inflammatory autoimmune disease characterized by recurrent thrombotic events and/or obstetric complications associated with the presence of circulating antiphospholipid antibodies (anticardiolipin antibodies, anti-β 2 glycoprotein-i antibodies, and/or lupus anticoagulant. Antiphospholipid antibodies are a heterogeneous group of autoantibodies associated with recurrent miscarriage, stillbirth, fetal growth restriction and premature birth. The diversity of the features of the proposed placental antiphospholipid antibodies fingerprint suggests that several disease processes may occur in the placentae of women with antiphospholipid antibody syndrome in the form of immune responses: inflammatory events, complement activation, angiogenic imbalance and, less commonly, thrombosis and infarction. Because of the disparity between clinical and laboratory criteria, and the impact on perinatal outcome in patients starting treatment, we reviewed the aspects of antiphospholipid antibody syndrome related to obstetric complications and seronegative antiphospholipid antibody syndrome, and their treatment in obstetrics. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  4. Assessment of fetal activity concentration and fetal dose for selected radionuclides based on animal and human data

    International Nuclear Information System (INIS)

    Roedler, H.D.

    1987-01-01

    Biokinetic data of selected radionuclide compounds from investigations in man and animal were taken from literature references with the purpose to provide a basis for a comparative assessment of fetal and adult radiation doses after intake or administration of radionuclides. The following ratios of fetal to adult doses were derived from human data: 0.5 for caesium 137 and total body, 2.3 for iron 59 and liver, 0.06 - 0.3 - 1.1 for iodine 131 and thyroid, and 0.1 - 0.3 for strontium 90 and bone. The ratios of activity concentrations in fetal and adult tissues are of considerable variability - up to three orders of magnitude. Further studies on fetal and adult biokinetics specifically designed for comparative dose assessment are indispensable. 106 refs.; 6 tabs

  5. Fetal Heart Rate Monitoring during Labor

    Science.gov (United States)

    ... What are the types of monitoring? • How is auscultation performed? • How is electronic fetal monitoring performed? • How ... methods of fetal heart rate monitoring in labor. Auscultation is a method of periodically listening to the ...

  6. Prognostic value of three-dimensional ultrasound for fetal hydronephrosis

    Science.gov (United States)

    WANG, JUNMEI; YING, WEIWEN; TANG, DAXING; YANG, LIMING; LIU, DONGSHENG; LIU, YUANHUI; PAN, JIAOE; XIE, XING

    2015-01-01

    The present study evaluated the prognostic value of three-dimensional ultrasound for fetal hydronephrosis. Pregnant females with fetal hydronephrosis were enrolled and a novel three-dimensional ultrasound indicator, renal parenchymal volume/kidney volume, was introduced to predict the postnatal prognosis of fetal hydronephrosis in comparison with commonly used ultrasound indicators. All ultrasound indicators of fetal hydronephrosis could predict whether postnatal surgery was required for fetal hydronephrosis; however, the predictive performance of renal parenchymal volume/kidney volume measurements as an individual indicator was the highest. In conclusion, ultrasound is important in predicting whether postnatal surgery is required for fetal hydronephrosis, and the three-dimensional ultrasound indicator renal parenchymal volume/kidney volume has a high predictive performance. Furthermore, the majority of cases of fetal hydronephrosis spontaneously regress subsequent to birth, and the regression time is closely associated with ultrasound indicators. PMID:25667626

  7. Prolonged expression of the c-kit receptor in germ cells of intersex fetal testes

    DEFF Research Database (Denmark)

    Rajpert-De Meyts, Ewa; Jørgensen, N; Müller, Jørn

    1996-01-01

    conditions which included 45,X/46,XY mosaicism; androgen insensitivity syndrome; and 46,XY/iso(p)Y mosaicism. Individuals with such disorders of sexual differentiation and Y-chromosome material carry a very high risk of developing testicular neoplasms. Fetal testicular germ cells of the intersex subjects...... expressed Kit at a later developmental age than controls, in which no Kit protein was detectable beyond the 15th week of gestation. This finding may indicate a disturbance of the chronology of germ cell development, or it may suggest a change of the regulation of c-kit expression in subjects with disorders...

  8. The effect of Ramadan fasting on fetal development.

    Science.gov (United States)

    Karateke, Atilla; Kaplanoglu, Mustafa; Avci, Fazil; Kurt, Raziye Keskin; Baloglu, Ali

    2015-01-01

    To evaluate the effects of Ramadan fasting on fetal development and outcomes of pregnancy. We performed this study in Antakya State Hospital of Obstetrics and Child Care, between 28 June 2014 and 27 July 2014 (during the month of Ramadan). A total of two hundred forty healthy pregnant women who were fasting during Ramadan, were included in the groups. The three groups were divided according to the trimesters. The each group was consisted of 40 healthy pregnant women with fasting and 40 healthy pregnant women without fasting. For evaluating the effects of Ramadan on fetus, ultrasonography was performed on all pregnant women in the beginning and the end of Ramadan. We used the essential parameters for the following measurements: increase of fetal biparietal diameter (BPD), increase of fetal femur length (FL), increase of estimated fetal body weight (EFBW), fetal biophysical profile (BPP), amniotic fluid index (AFI), and umbilical artery systole/diastole (S/D) ratio. No significant difference was found between the two groups for the fetal age, maternal weight gain (kilogram), estimated fetal weight gain (EFWG), fetal BPP, AFI, and umbilical artery S/D ratio. On the other hand, a statistically significant increase was observed in maternal weight in the second and third trimesters and a significant increase was observed in the amniotic fluid index in second trimester. In Ramadan there was no bad fetal outcome between pregnant women with fasting and pregnant women without fasting. Pregnant women who want to be with fast, should be examined by doctors, adequately get breakfast before starting to fast and after the fasting take essential calori and hydration. More comprehensive randomized studies are needed to explain the effects of fasting on the pregnancy and fetal outcomes.

  9. Maternal exposure to hurricane destruction and fetal mortality.

    Science.gov (United States)

    Zahran, Sammy; Breunig, Ian M; Link, Bruce G; Snodgrass, Jeffrey G; Weiler, Stephan; Mielke, Howard W

    2014-08-01

    The majority of research documenting the public health impacts of natural disasters focuses on the well-being of adults and their living children. Negative effects may also occur in the unborn, exposed to disaster stressors when critical organ systems are developing and when the consequences of exposure are large. We exploit spatial and temporal variation in hurricane behaviour as a quasi-experimental design to assess whether fetal death is dose-responsive in the extent of hurricane damage. Data on births and fetal deaths are merged with Parish-level housing wreckage data. Fetal outcomes are regressed on housing wreckage adjusting for the maternal, fetal, placental and other risk factors. The average causal effect of maternal exposure to hurricane destruction is captured by difference-in-differences analyses. The adjusted odds of fetal death are 1.40 (1.07-1.83) and 2.37 (1.684-3.327) times higher in parishes suffering 10-50% and >50% wreckage to housing stock, respectively. For every 1% increase in the destruction of housing stock, we observe a 1.7% (1.1-2.4%) increase in fetal death. Of the 410 officially recorded fetal deaths in these parishes, between 117 and 205 may be attributable to hurricane destruction and postdisaster disorder. The estimated fetal death toll is 17.4-30.6% of the human death toll. The destruction caused by Hurricanes Katrina and Rita imposed significant measurable losses in terms of fetal death. Postdisaster migratory dynamics suggest that the reported effects of maternal exposure to hurricane destruction on fetal death may be conservative. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  10. Fatores de risco maternos associados à acidose fetal Maternal risk factors associated with fetal acidosis

    Directory of Open Access Journals (Sweden)

    José Mauro Madi

    2010-09-01

    Full Text Available OBJETIVOS: avaliar os fatores de risco maternos associados à acidose fetal. MÉTODOS: estudo tipo caso-controle composto por 188 recém-nascidos, sendo que 47 compuseram o grupo casos (pH de artéria umbilical OBJECTIVES: to assess maternal risk factors associated with fetal acidosis. METHODS: a case-control type study was conducted of 188 neonates, of whom 47 comprised the case group (umbilical arterial pH <7.0 and 141 the control (umbilical arterial pH E7.1 <7.3. The study included only single-gestation neonates without congenital malformations. Both maternal and fetal variables were taken into consideration. Statistical analysis involved the calculation of the raw and adjusted Odds Ratio, Student's t-test, the chi-squared test and multivariate analysis using Enter-method non-conditional logistic regression. The level of statistical significance was set at p<0.05. RESULTS: in the case group higher percentages of caesarian sections and pre-term births were observed, involving almost five times as much intensive care and twenty-five times more likelihood of Apgar in the 5th minute <7. No association was observed between the groups and fetal presentation, mother's age, history of miscarriage, years of schooling of mother or attendance at prenatal sessions. After multivariate analysis, the only risk factors that remained significant were complications relating to the placenta or the umbilical cord. Deliveries involving complications relating to the placenta or the umbilical cord were three times more likely to involve fetal acidemia. CONCLUSIONS: acidemia among neonates was associated with a higher percentage of caesarians, premature births, a need for intensive care and treatment and an Apgar index of <7 in the 5th minute. After multivariate analysis, complications relating to premature displacement of the placenta and the umbilical cord were the only remaining risk factors associated with fetal acidemia.

  11. Reexpression of a developmentally regulated antigen in Down syndrome and Alzheimer disease

    International Nuclear Information System (INIS)

    Wolozin, B.; Scicutella, A.; Davies, P.

    1988-01-01

    ALZ-50 is a monoclonal antibody that recognizes a protein of apparent molecular mass 68 kilodaltons (A68). The protein is present in the brains of patients with Alzheimer disease but is not detectable in normal adult brain tissue. The authors report that ALZ-50-reactive neurons are found in normal fetal and neonatal human brain and in brain tissue from neonatal individuals with Down syndrome. Reactive neurons decrease sharply in number after age 2 and reappear in older individuals with Down syndrome and in patients with Alzheimer disease

  12. Influence of Infection During Pregnancy on Fetal Development

    Science.gov (United States)

    Adams Waldorf, Kristina M.; McAdams, Ryan M.

    2014-01-01

    Infection by bacteria, viruses and parasites may lead to fetal death, organ injury or limited sequelae depending on the pathogen. Here we consider the role of infection during pregnancy on fetal development including placental development and function, which can lead to fetal growth restriction. The classic group of teratogenic pathogens are referred to as “TORCH” (Toxoplasma gondii, Others like Treponema pallidum, Rubella virus, Cytomegalovirus, Herpes simplex virus), but should include a much broader group of pathogens including Parvovirus B19, Varicella zoster virus, and Plasmodium falciparum to name a few. In this review, we describe the influence of different infections in utero on fetal development and the short- and long-term outcomes for the neonate. In some cases, the mechanisms used by these pathogens to disrupt fetal development are well known. Bacterial infection of the developing fetal lungs and brain begins with inflammatory cascade resulting in cytokine injury and oxidative stress. For some pathogens like P. falciparum, the mechanisms involve oxidative stress and apoptosis to disrupt placental and fetal growth. An in utero infection may also impact the long-term health of the infant; in many cases, a viral infection in utero increases the risk of developing Type 1 diabetes in childhood. Understanding the varied mechanisms employed by these pathogens may enable therapies to attenuate changes in fetal development, decrease preterm birth, and improve survival. PMID:23884862

  13. INTRAUTERINE FETAL DEATH CASES AT TERTIARY CENTER

    Directory of Open Access Journals (Sweden)

    Babu Lal Bishnoi

    2018-01-01

    Full Text Available BACKGROUND Intrauterine fetal death is a tragic event for the parents and a great cause of stress for the caregiver. It is an important indicator of maternal and perinatal health of a given population. This study was undertaken to study the maternal and fetal factors associated with intrauterine fetal death. Aim and Objective- This was an Analytical study aimed to evaluate and understand the prevalence, socio-epidemiological and etiological factors of IUFD methodology should not be mixed with aims and objectives MATERIALS AND METHODS The study was carried out at March 2017 to June 2017 (4 months study which was conducted at Dr. S. N. Medical College, Jodhpur, Rajasthan. The details were entered in a preformed proforma. IUD is defined as fetal death beyond 20 weeks of gestation and/or birth weight >500g. The details of complaints at admission, obstetrics history, menstrual history, examination findings, per vaginal examination findings, mode and method of delivery and fetal outcomes and investigation reports were recorded. RESULTS A total of 227 intrauterine fetal deaths were reported amongst 6264 deliveries conducted during the study period. The incidence rate of intrauterine fetal death was 36/1000 live births. 192 (84.56% deliveries were unbooked and unsupervised and 133 (58.59% belonged to rural population and 126 (55.5% were preterm and 221 (97.55% were singleton pregnancy. Among the identifiable causes hypertensive disorders (24.22% and severe anemia (13.10% were most common followed by placental causes (9.97%. Congenital malformations were responsible for 12.39% and unidentifiable causes were 11.01%. Induction was done in 103 patients, 94 patients had spontaneous onset of labour and caesarean section was done in 30 patients. Incidence of intrauterine foetal demise gradually decreased as parity advanced. CONCLUSION Institutional deliveries should be promoted to prevent intrapartum fetal deaths. Decrease in the incidence of IUD would

  14. Fetal Macrosomia

    Science.gov (United States)

    ... re more likely to have a large baby. Maternal obesity. Fetal macrosomia is more likely if you're ... is more likely to be a result of maternal diabetes, obesity or weight gain during pregnancy than other causes. ...

  15. Recommendations for fetal echocardiography in twin pregnancy in 2016

    Directory of Open Access Journals (Sweden)

    Leszczyńska Katarzyna

    2016-01-01

    Full Text Available Progress in the fields of fetal cardiology and fetal surgery have been seen not only in singleton pregnancies but also in multiple pregnancies. Proper interpretation of prenatal echocardiography is critical to clinical decision making, family counseling and perinatal management for obstetricians, maternal fetal medicine specialists, neonatologists and pediatric cardiologists. Fetal echocardiography is one of the most challenging and time-consuming prenatal examinations to perform, especially in multiple gestations. Performing just the basic fetal exam in twin gestations may take an hour or more. Thus, it is not practical to perform this exam in all cases of multiple gestations. Therefore our review and recommendations are related to fetal echocardiography in twin gestation.

  16. Comparison of motor delays in young children with fetal alcohol syndrome to those with prenatal alcohol exposure and with no prenatal alcohol exposure.

    Science.gov (United States)

    Kalberg, Wendy O; Provost, Beth; Tollison, Sean J; Tabachnick, Barbara G; Robinson, Luther K; Eugene Hoyme, H; Trujillo, Phyllis M; Buckley, David; Aragon, Alfredo S; May, Philip A

    2006-12-01

    Researchers are increasingly considering the importance of motor functioning of children with fetal alcohol spectrum disorder (FASD). The purpose of this study was to assess the motor development of young children with fetal alcohol syndrome (FAS) to determine the presence and degree of delay in their motor skills and to compare their motor development with that of matched children without FAS. The motor development of 14 children ages 20 to 68 months identified with FAS was assessed using the Vineland Adaptive Behavior Scales (VABS). In addition, 2 comparison groups were utilized. Eleven of the children with FAS were matched for chronological age, gender, ethnicity, and communication age to: (1) 11 children with prenatal alcohol exposure who did not have FAS and (2) 11 matched children without any reported prenatal alcohol exposure. The motor scores on the VABS were compared among the 3 groups. Most of the young children with FAS in this study showed clinically important delays in their motor development as measured on the VABS Motor Domain, and their fine motor skills were significantly more delayed than their gross motor skills. In the group comparisons, the young children with FAS had significantly lower Motor Domain standard (MotorSS) scores than the children not exposed to alcohol prenatally. They also had significantly lower Fine Motor Developmental Quotients than the children in both the other groups. No significant group differences were found in gross motor scores. For MotorSS scores and Fine Motor Developmental Quotients, the means and standard errors indicated a continuum in the scores from FAS to prenatal alcohol exposure to nonexposure. These findings strongly suggest that all young children with FAS should receive complete developmental evaluations that include assessment of their motor functioning, to identify problem areas and provide access to developmental intervention programs that target deficit areas such as fine motor skills. Fine motor

  17. Atrial natriuretic factor in maternal and fetal sheep

    International Nuclear Information System (INIS)

    Cheung, C.Y.; Gibbs, D.M.; Brace, R.A.

    1987-01-01

    To determine atrial natriuretic factor (ANF) concentrations in the circulation and body fluids of adult pregnant sheep and their fetuses, pregnant ewes were anesthetized with pentobarbital sodium, and the fetuses were exteriorized for sampling. ANF concentration, as measured by radioimmunoassay, was 47 +/- 6 (SE) pg/ml in maternal plasma, which was significantly higher than the 15 +/- 3 pg/ml in maternal urine. In the fetus, plasma ANF concentration was 265 +/- 49 pg/ml, 5.6 times that in maternal plasma. No umbilical arterial and venous difference in ANF concentration was observed. Fetal urine ANF concentration was significantly lower than that in fetal plasma, and was similar to that measured in amniotic and allantoic fluid. In chronically catheterized maternal and fetal sheep, fetal plasma ANF was again 5.1 times that in maternal plasma, and these levels were not different from those measured in acutely anesthetized animals. These results demonstrate that immunoreactive ANF is present in the fetal circulation at levels higher than those found in the mother. The low concentration of ANF in fetal urine suggests that ANF is probably metabolized and/or reabsorbed by the fetal kidney

  18. Hypoxia: From Placental Development to Fetal Programming.

    Science.gov (United States)

    Fajersztajn, Lais; Veras, Mariana Matera

    2017-10-16

    Hypoxia may influence normal and different pathological processes. Low oxygenation activates a variety of responses, many of them regulated by hypoxia-inducible factor 1 complex, which is mostly involved in cellular control of O 2 consumption and delivery, inhibition of growth and development, and promotion of anaerobic metabolism. Hypoxia plays a significant physiological role in fetal development; it is involved in different embryonic processes, for example, placentation, angiogenesis, and hematopoiesis. More recently, fetal hypoxia has been associated directly or indirectly with fetal programming of heart, brain, and kidney function and metabolism in adulthood. In this review, the role of hypoxia in fetal development, placentation, and fetal programming is summarized. Hypoxia is a basic mechanism involved in different pregnancy disorders and fetal health developmental complications. Although there are scientific data showing that hypoxia mediates changes in the growth trajectory of the fetus, modulates gene expression by epigenetic mechanisms, and determines the health status later in adulthood, more mechanistic studies are needed. Furthermore, if we consider that intrauterine hypoxia is not a rare event, and can be a consequence of unavoidable exposures to air pollution, nutritional deficiencies, obesity, and other very common conditions (drug addiction and stress), the health of future generations may be damaged and the incidence of some diseases will markedly increase as a consequence of disturbed fetal programming. Birth Defects Research 109:1377-1385, 2017.© 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  19. Assessment of congenital heart disease (CHD): Is there a role for fetal magnetic resonance imaging (MRI)?

    Energy Technology Data Exchange (ETDEWEB)

    Manganaro, L. [Department of Radiological Sciences, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy); Savelli, S. [Department of Radiological Sciences, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy)], E-mail: sarasavelli@hotmail.it; Di Maurizio, M.; Perrone, A.; Francioso, A.; La Barbera, L.; Totaro, P.; Fierro, F.; Tomei, A.; Coratella, F. [Department of Radiological Sciences, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy); Giancotti, A. [Department of Gynaecological Sciences, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy); Ballesio, L. [Department of Radiological Sciences, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy); Ventriglia, F. [Department of Pediatric Cardiology, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy)

    2009-10-15

    Purpose: To review our experience with fetal magnetic resonance imaging (MRI) to evaluate congenital heart disease (CHD). Methods: We performed fetal MRI in 32 fetuses with an echocardiographically assessed CHD. Both direct and indirect signs of CHD were investigated. Direct signs considered were: morpho-volumetric abnormalities of the heart; malrotations; ventricular and atrial septal defects; anomalies of the origin, size and course of the great arteries. Indirect signs considered were: difficulty to recognize a 'normal' anatomical structures in the reference projections; increase of the vascular size before a stenosis; hypertrophy of the papillary muscles; cardiomegaly and pericardial effusion. All MRI findings were compared with postnatal or autoptic findings. Results: MRI allowed the CHD to be visualised by direct signs in 17 fetuses, indirect signs in 5 and both direct and indirect signs in 9 fetuses, excluding the prenatal echocardiographic suspect of hypoplastic left heart syndrome in 1 fetus. Postnatal echocardiograms or autoptic findings confirmed a normal heart in 1 fetus and CHD in 31 fetuses including a single cardiac anomaly or syndrome in 19 fetuses, 2 associated cardiac abnormalities in 11 and 3 cardiac anomalies in 1 fetus. However, in 2 fetuses MRI detected a ventricular septal defect successively disclosed by gold standard. Conclusions: MRI is a promising method for further assessment of the cardiovascular pathologies diagnosed by echocardiography, and may be a valuable tool in assessing associated extracardiac anomalies.

  20. Gestational Age Estimation Based on Fetal Pelvimetry on Fetal Ultrasound in Iraqi Women

    Directory of Open Access Journals (Sweden)

    Sattar Razzaq Al-Esawi

    2016-08-01

    Full Text Available Ultrasound is an integral part of obstetric practice, and assessment of gestational age (GA is a central element of obstetric ultrasonography. Sonographic estimation of GA is derived from calculations based on fetal measurements. Numerous equations for GA calculation from fetal biometry have been adopted in routine practice. This study reports a new method of estimating GA in the second and third trimester using interischial distance (IID, the distance between the two ischial primary ossification centers, on fetal ultrasound. Four hundred women with uncomplicated normal singleton pregnancies from 16 weeks to term were examined. Standard fetal obstetric ultrasound was done measuring biparietal diameter (BPD and femur length (FL for each fetus. The IID, in millimeters, was correlated with the GA in weeks based upon the BPD and FL individually, and the BPD and FL together. Statistical analysis showed strong correlation between the IID and GA calculated from the FL with correlation coefficient (r =0.989, P < 0.001. Strong linear correlation was also found between the IID and GA based upon BPD and BPD+FL. Further statistical analysis using regression equations also showed that the IID was slightly wider in female fetuses, but this difference was not statistically significant. Resulting from this analysis, we have arrived at an easy-to-use equation: GA Weeks = (IID mm + 8 ±1 week. We feel this method can be especially applicable in the developing world, where midwives may not have access to software for fetal biometry in their basic handheld ultrasound machines. Even more sophisticated machines may not come with loaded software for obstetrics analysis. There are several limitations to this study, discussed below. We recommend further studies correlating the IID with other biometric parameters.

  1. Fetal Cardiac Doppler Signal Processing Techniques: Challenges and Future Research Directions

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    Saeed Abdulrahman Alnuaimi

    2017-12-01

    Full Text Available The fetal Doppler Ultrasound (DUS is commonly used for monitoring fetal heart rate and can also be used for identifying the event timings of fetal cardiac valve motions. In early-stage fetuses, the detected Doppler signal suffers from noise and signal loss due to the fetal movements and changing fetal location during the measurement procedure. The fetal cardiac intervals, which can be estimated by measuring the fetal cardiac event timings, are the most important markers of fetal development and well-being. To advance DUS-based fetal monitoring methods, several powerful and well-advanced signal processing and machine learning methods have recently been developed. This review provides an overview of the existing techniques used in fetal cardiac activity monitoring and a comprehensive survey on fetal cardiac Doppler signal processing frameworks. The review is structured with a focus on their shortcomings and advantages, which helps in understanding fetal Doppler cardiogram signal processing methods and the related Doppler signal analysis procedures by providing valuable clinical information. Finally, a set of recommendations are suggested for future research directions and the use of fetal cardiac Doppler signal analysis, processing, and modeling to address the underlying challenges.

  2. Fetal programming as a predictor of adult health or disease: the need to reevaluate fetal heart function.

    Science.gov (United States)

    Miranda, Joana O; Ramalho, Carla; Henriques-Coelho, Tiago; Areias, José Carlos

    2017-11-01

    Epidemiologic and experimental evidence suggests that adverse stimuli during critical periods in utero permanently alters organ structure and function and may have persistent consequences for the long-term health of the offspring. Fetal hypoxia, maternal malnutrition, or ventricular overloading are among the major adverse conditions that can compromise cardiovascular development in early life. With the heart as a central organ in fetal adaptive mechanisms, a deeper understanding of the fetal cardiovascular physiology and of the echocardiographic tools to assess both normal and stressed pregnancies would give precious information on fetal well-being and hopefully may help in early identification of special risk groups for cardiovascular diseases later in life. Assessment of cardiac function in the fetus represents an additional challenge when comparing to children and adults, requiring advanced training and a critical approach to properly acquire and interpret functional parameters. This review summarizes the basic fetal cardiovascular physiology and the main differences from the mature postnatal circulation, provides an overview of the particularities of echocardiographic evaluation in the fetus, and finally proposes an integrated view of in utero programming of cardiovascular diseases later in life, highlighting priorities for future clinical research.

  3. THE PREVENTION OF FETAL ALCOHOL SPECTRUM DISORDER: THE NEED FOR A COORDINATED SERVICE BY ROLE PLAYERS IN THE WINE PRODUCING AREAS IN THE BREEDE RIVER VALLEY

    Directory of Open Access Journals (Sweden)

    de Vries, Marlene

    2013-05-01

    Full Text Available Fetal Alcohol Syndrome (FAS is seen as the leading preventable birth defect in the western world (May, Miller, Goodhart, Maestas, Buckley, Trujillo & Gossage, 2007. FAS is the severe end of a spectrum of effects caused by alcohol intake during pregnancy and is characterised by unique facial features, growth retardation and developmental delays (May, Gossage, Marais, Adnams, Hoyme, Jones, Robinson, Khaole, Snell, Kalberg, Hendricks, Brooke, Stellavato & Viljoen, 2007; Urban, Chersich, Fourie, Chetty, Olivier & Viljoen, 2008. Drinking alcohol during pregnancy has physical, behavioural and mental consequences for the developing fetus. These effects last throughout the lifespan of the individual with a Fetal Alcohol Spectrum Disorder (FASD

  4. Hormonal influences on growth of the fetal pig

    International Nuclear Information System (INIS)

    Spencer, G.S.

    1986-01-01

    Although there is considerable information on hormonal systems regulating growth postnatally, little is known about hormonal influences on growth in the fetuw. It has long been postulated that insulin is the major fetal growth promoting hormone. However, chronic administration of insulin to the fetal pig during 14 days in utero, although producing hyperinsulinaemia and elevated somatomedin levels, did not stimulate an increase in length, weight or cell number. Postnatally the principal growth promoting hormones are the growth hormone dependent somatomedins. It is thought that multiplication stimulating activity (MSA) is the fetal somatomedin. However, under similar conditions to those used for insulin administration, MSA did not affect growth in the fetal pig. Administration of somatostatin to chronically catheterized fetuses inhibited (p≤0.01) and thyrotrophin releasing factor stimulated (≤0.01) GH release. However, chronic administration of SRIF did not inhibit fetal growth. Thus there does seem to be some hypothalamic control over GH secretion but this may not play a major role in regulating fetal growth

  5. Occupational lifting, fetal death and preterm birth

    DEFF Research Database (Denmark)

    Mocevic, Emina; Svendsen, Susanne Wulff; Jørgensen, Kristian Tore

    2014-01-01

    OBJECTIVE: We examined the association between occupational lifting during pregnancy and risk of fetal death and preterm birth using a job exposure matrix (JEM). METHODS: For 68,086 occupationally active women in the Danish National Birth Cohort, interview information on occupational lifting...... the JEM. We used Cox regression models with gestational age as underlying time variable and adjustment for covariates. RESULTS: We observed 2,717 fetal deaths and 3,128 preterm births within the study cohort. No exposure-response relation was observed for fetal death, but for women with a prior fetal...... death, we found a hazard ratio (HR) of 2.87 (95% CI 1.37, 6.01) for stillbirth (fetal death ≥22 completed gestational weeks) among those who lifted >200 kg/day. For preterm birth, we found an exposure-response relation for primigravid women, reaching a HR of 1.43 (95% CI 1.13, 1.80) for total loads >200...

  6. The impact of fetal growth restriction on latency in the setting of expectant management of preeclampsia.

    Science.gov (United States)

    McKinney, David; Boyd, Heather; Langager, Amanda; Oswald, Michael; Pfister, Abbey; Warshak, Carri R

    2016-03-01

    Fetal growth restriction is a common complication of preeclampsia. Expectant management for qualifying patients has been found to have acceptable maternal safety while improving neonatal outcomes. Whether fetal growth restriction influences the duration of latency during expectant management of preeclampsia is unknown. The objective of the study was to determine whether fetal growth restriction is associated with a reduced interval to delivery in women with preeclampsia being expectantly managed prior to 34 weeks. We performed a retrospective cohort of singleton, live-born, nonanomalous deliveries at the University of Cincinnati Medical Center between 2008 and 2013. Patients were included in our analysis if they were diagnosed with preeclampsia prior to 34 completed weeks and if the initial management plan was to pursue expectant management beyond administration of steroids for fetal lung maturity. Two study groups were determined based on the presence or absence of fetal growth restriction. Patients were delivered when they developed persistent neurological symptoms, severe hypertension refractory to medical therapy, renal insufficiency, nonreassuring fetal status, pulmonary edema, or hemolysis elevated liver low platelet syndrome or when they reached 37 weeks if they remained stable without any other indication for delivery. Our primary outcome was the interval from diagnosis of preeclampsia to delivery, measured in days. Secondary outcomes included indications for delivery, rates of induction and cesarean delivery, development of severe morbidities of preeclampsia, and select neonatal outcomes. We performed a multivariate logistic regression analysis comparing those with fetal growth restriction with those with normally grown fetuses to determine whether there is an association between fetal growth restriction and a shortened interval to delivery, neonatal intensive care unit admission, prolonged neonatal stay, and neonatal mortality. A total of 851 patients met

  7. Sonographic large fetal head circumference and risk of cesarean delivery.

    Science.gov (United States)

    Lipschuetz, Michal; Cohen, Sarah M; Israel, Ariel; Baron, Joel; Porat, Shay; Valsky, Dan V; Yagel, Oren; Amsalem, Hagai; Kabiri, Doron; Gilboa, Yinon; Sivan, Eyal; Unger, Ron; Schiff, Eyal; Hershkovitz, Reli; Yagel, Simcha

    2018-03-01

    Persistently high rates of cesarean deliveries are cause for concern for physicians, patients, and health systems. Prelabor assessment might be refined by identifying factors that help predict an individual patient's risk of cesarean delivery. Such factors may contribute to patient safety and satisfaction as well as health system planning and resource allocation. In an earlier study, neonatal head circumference was shown to be more strongly associated with delivery mode and other outcome measures than neonatal birthweight. In the present study we aimed to evaluate the association of sonographically measured fetal head circumference measured within 1 week of delivery with delivery mode. This was a multicenter electronic medical record-based study of birth outcomes of primiparous women with term (37-42 weeks) singleton fetuses presenting for ultrasound with fetal biometry within 1 week of delivery. Fetal head circumference and estimated fetal weight were correlated with maternal background, obstetric, and neonatal outcome parameters. Elective cesarean deliveries were excluded. Multinomial regression analysis provided adjusted odds ratios for instrumental delivery and unplanned cesarean delivery when the fetal head circumference was ≥35 cm or estimated fetal weight ≥3900 g, while controlling for possible confounders. In all, 11,500 cases were collected; 906 elective cesarean deliveries were excluded. A fetal head circumference ≥35 cm increased the risk for unplanned cesarean delivery: 174 fetuses with fetal head circumference ≥35 cm (32%) were delivered by cesarean, vs 1712 (17%) when fetal head circumference cesarean delivery by an adjusted odds ratio of 1.75 (95% confidence interval, 1.4-2.18) controlling for gestational age, fetal gender, and epidural anesthesia. The rate of prolonged second stage of labor was significantly increased when either the fetal head circumference was ≥35 cm or the estimated fetal weight ≥3900 g, from 22.7% in the total

  8. The Danish Fetal Medicine Database

    DEFF Research Database (Denmark)

    Ekelund, Charlotte K; Petersen, Olav B; Jørgensen, Finn S

    2015-01-01

    OBJECTIVE: To describe the establishment and organization of the Danish Fetal Medicine Database and to report national results of first-trimester combined screening for trisomy 21 in the 5-year period 2008-2012. DESIGN: National register study using prospectively collected first-trimester screening...... data from the Danish Fetal Medicine Database. POPULATION: Pregnant women in Denmark undergoing first-trimester screening for trisomy 21. METHODS: Data on maternal characteristics, biochemical and ultrasonic markers are continuously sent electronically from local fetal medicine databases (Astraia Gmbh...... software) to a central national database. Data are linked to outcome data from the National Birth Register, the National Patient Register and the National Cytogenetic Register via the mother's unique personal registration number. First-trimester screening data from 2008 to 2012 were retrieved. MAIN OUTCOME...

  9. Fetal MRI and ultrasound of congenital CNS anomalies; Fetales MRT und Ultraschall der angeborenen ZNS-Fehlbildungen

    Energy Technology Data Exchange (ETDEWEB)

    Pogledic, I.; Reith, W. [Universitaetsklinikum des Saarlandes, Homburg/Saar, Klinik fuer Diagnostische und Interventionelle Neuroradiologie, Homburg/Saar (Germany); Meyberg-Solomayer, G. [Universitaetsklinikum des Saarlandes, Homburg/Saar, Klinik fuer Frauenheilkunde, Geburtsheilkunde und Reproduktionsmedizin, Homburg/Saar (Germany)

    2013-02-15

    In the last decade the newest technologies, fetal magnetic resonance imaging (MRI) and 3D ultrasound, have given an insight into the minute structures of the fetal brain. However, without knowledge of the basic developmental processes the imaging is futile. Knowledge of fetal neuroanatomy corresponding to the gestational week is necessary in order to recognize pathological structures. Furthermore, a modern neuroradiologist should be acquainted with the three steps in the formation of the cerebral cortex: proliferation, migration and differentiation of neurons in order to be in a position to suspect that there is a pathology and start recognizing and discovering the abnormalities. The fetal MRI has become an important complementary method to ultrasound especially in cortical malformations when confirmation of the prenatal diagnosis is needed and additional pathologies need to be diagnosed. In this manner these two methods help in parental counseling and treatment planning. (orig.) [German] Dank neuer Technologien (z. B. fetale MRT, 3-D-Sonographie) ist es moeglich, kleinste Hirnstrukturen darzustellen. Ohne Kenntnisse der grundlegenden Entwicklungsprozesse des Gehirns waere die Bildgebung jedoch sinnlos. Um pathologische Veraenderungen zu erkennen, ist es notwendig, den Stand der fetalen Neuroanatomie in der entsprechenden Schwangerschaftswoche zu kennen. Heutzutage sollte sich ein Neuroradiologe mit den 3 Schritten der kortikalen Entwicklung - Proliferation, Migration und Differenzierung der Neuronen - vertraut machen. Nur dann wird er in der Lage sein, pathologische Veraenderungen in Betracht zu ziehen, bzw. diese zu erkennen. Die fetale MRT ist besonders wichtig, ergaenzend zur zerebralen Sonographie, zur Diagnosebestaetigung bei kortikalen Veraenderungen und Nachweis weiterer Pathologien. In dieser Kombination ermoeglichen diese Methoden eine adaequate Beratung der Eltern und Planung der Behandlung. (orig.)

  10. Prenatal diagnostic evaluation of fetal ventricular dilatation by MRI

    International Nuclear Information System (INIS)

    Kawabata, Ichiro; Tamaya, Teruhiko; Iwata, Tatsuo; Ando, Takashi; Yamada, Hiromu

    1992-01-01

    Recent advances in MRI have contributed to the antenatal confirmatory diagnosis of fetal anomalies, especially in the fetal brain and central nervous system. In this study, eight infants with fetal ventricular dilatation, suggested by prenatal ultrasonography, were evaluated with confirmatory diagnosis by MRI (SIGNA; General Electric Company, 1.5 tesla). These anomalies were demonstrated at 19 to 36 weeks by ultrasonography. One of the eight died in utero at 22 weeks of gestation, another one day after birth (33 weeks of gestation). Two were delivered by Cesarean section. It has been proved that clear and effective images can be obtained by mother's walking without sedative drugs. Fetal MRI gave clear images not only in fetal horizontal section, but also in sagittal section, which is usually difficult to obtain by ultrasonography. Confirmatory diagnosis of eight cases were obtained by MRI. Fetal MRI can provide an effective prenatal diagnosis, especially in cases of fetal brain anomaly, even when compared with postnatal CT findings. (author)

  11. A means for fetal monitoring and reducing stillbirth

    African Journals Online (AJOL)

    2013-11-25

    Nov 25, 2013 ... Nigerian Journal of Clinical Practice • Jul-Aug 2014 • Vol 17 • Issue 4 ... perceived alteration in regular fetal movement after the age of viability may signify impending adverse ... alarm signal” (MAS) – absent fetal movement for a duration ... excessive fetal movement especially in low‑income countries.

  12. Bloqueio AV total congênito: novo modelo experimental para avaliação do marcapasso fetal Fetal heart block: a new experimental model to assess fetal pacing

    Directory of Open Access Journals (Sweden)

    Renato S Assad

    1994-09-01

    Full Text Available O implante de marcapasso epicárdíco em fetos via toracotomia é um procedimento potencialmente mais seguro e eficaz para se tratar o bloqueio AV total congênito (BAVT, quando associado à hidropsia fetal e refratário ao tratamento clínico. Este estudo foi desenvolvido com o objetivo de avaliar as características eletrofisiológicas de dois eletrodos epicárdicos através de novo modelo experimental de BAVT congênito induzido pela crioablação do nó AV. Foram aplicados, em 2 grupos de 6 fetos de ovelhas (80% da gestação, um eletrodo de rosqueamento (1,5 voltas e outro de sutura epicárdica. O BAVT foi obtido em todos os fetos, não sendo observado nenhum ritmo de escape ventricular. Os limiares de estimulação foram baixos para ambos os eletrodos, com valores inferiores para o eletrodo de rosqueamento com largura de pulso abaixo de 0,9 mseg (p 0,20 na amplitude da onda R dos 2 eletrodos. O slew rate foi significativamente maior para o grupo de fetos com eletrodo de rosqueamento (1,40 ± 0,2 versus 0,62 ± 0,2 V/seg. p=0,04. O método é simples e reprodutível para avaliação do marcapasso fetal, sendo que o eletrodo de rosqueamento representa a melhor opção, quando houver indicação de implante de marcapasso em fetos.Epicardial fetal pacing via thoracotomy has the potential for being a safer and more reliable procedure to treat congenital complete heart block (CHB associated with fetal hydrops refractory to medical therapy. To assess the acute electrophysiologic characteristics of two ventricular epicardial leads, a new experimental model of fetal heart block induced by cryosurgical ablation of the AV node without the need for fetal cardiac bypass was performed in 12 pregnant ewes at 110-115 days of gestation. A modified screw-in lead (one and a half turn was used in 6 fetal lambs and a stitch-on lead in the other 6 lambs. CHB was achieved in 100% of the fetal lambs, with no ventricular escape rate noticed in any of the lambs

  13. Distribution of melatonin receptor in human fetal brain

    Institute of Scientific and Technical Information of China (English)

    WANG Guo-quan; SHAO Fu-yuan; ZHAO Ying; LIU Zhi-min

    2001-01-01

    Objective: To study the distribution of 2 kinds of melatonin receptor subtypes (mtl and MT2) in human fetal brain. Methods: The fetal brain tissues were sliced and the distribution ofmelatonin receptors in human fetal brain were detected using immunohistochemistry and in situ hybridization. Results: Melatonin receptor mtl existed in the cerebellun and hypothalamus, melatonin receptor MT2 exists in hypothalamus, occipital and medulla. Conclusion: Two kinds of melatonin receptors, mtl and MT2 exist in the membrane and cytosol of brain cells, indicating that human fetal brain is a target organ of melatonin.

  14. Fetal Treatment 2017: The Evolution of Fetal Therapy Centers - A Joint Opinion from the International Fetal Medicine and Surgical Society (IFMSS) and the North American Fetal Therapy Network (NAFTNet).

    Science.gov (United States)

    Moon-Grady, Anita J; Baschat, Ahmet; Cass, Darrell; Choolani, Mahesh; Copel, Joshua A; Crombleholme, Timothy M; Deprest, Jan; Emery, Stephen P; Evans, Mark I; Luks, Francois I; Norton, Mary E; Ryan, Greg; Tsao, Kuojen; Welch, Ross; Harrison, Michael

    2017-01-01

    More than 3 decades ago, a small group of physicians and other practitioners active in what they called "fetal treatment" authored an opinion piece outlining the current status and future challenges anticipated in the field. Many advances in maternal, neonatal, and perinatal care and diagnostic and therapeutic modalities have been made in the intervening years, yet a thoughtful reassessment of the basic tenets put forth in 1982 has not been published. The present effort will aim to provide a framework for contemporary redefinition of the field of fetal treatment, with a brief discussion of the necessary minimum expertise and systems base for the provision of different types of interventions for both the mother and fetus. Our goal will be to present an opinion that encourages the advancement of thoughtful practice, ensuring that current and future patients have realistic access to centers with a range of fetal therapies with appropriate expertise, experience, and subspecialty and institutional support while remaining focused on excellence in care, collaborative scientific discovery, and maternal autonomy and safety. © 2017 S. Karger AG, Basel.

  15. The effect of androgen excess on maternal metabolism, placental function and fetal growth in obese dams.

    Science.gov (United States)

    Fornes, Romina; Maliqueo, Manuel; Hu, Min; Hadi, Laila; Jimenez-Andrade, Juan M; Ebefors, Kerstin; Nyström, Jenny; Labrie, Fernand; Jansson, Thomas; Benrick, Anna; Stener-Victorin, Elisabet

    2017-08-14

    Pregnant women with polycystic ovary syndrome (PCOS) are often overweight or obese. To study the effects of maternal androgen excess in obese dams on metabolism, placental function and fetal growth, female C57Bl6J mice were fed a control (CD) or a high fat/high sucrose (HF/HS) diet for 4-10 weeks, and then mated. On gestational day (GD) 15.5-17.5, dams were injected with dihydrotestosterone (CD-DHT, HF/HS-DHT) or a vehicle (CD-Veh, HF/HS-Veh). HF/HS dams had higher fat content, both before mating and on GD18.5, with no difference in glucose homeostasis, whereas the insulin sensitivity was higher in DHT-exposed dams. Compared to the CD groups, the livers from HF/HS dams weighed more on GD18.5, the triglyceride content was higher, and there was a dysregulation of liver enzymes related to lipogenesis and higher mRNA expression of Fitm1. Fetuses from HF/HS-Veh dams had lower liver triglyceride content and mRNA expression of Srebf1c. Maternal DHT exposure, regardless of diet, decreased fetal liver Pparg mRNA expression and increased placental androgen receptor protein expression. Maternal diet-induced obesity, together with androgen excess, affects maternal and fetal liver function as demonstrated by increased triglyceride content and dysfunctional expression of enzymes and transcription factors involved in de novo lipogenesis and fat storage.

  16. Fetal Programming and Cardiovascular Pathology

    Science.gov (United States)

    Alexander, Barbara T.; Dasinger, John Henry; Intapad, Suttira

    2016-01-01

    Low birth weight serves as a crude proxy for impaired growth during fetal life and indicates a failure for the fetus to achieve its full growth potential. Low birth weight can occur in response to numerous etiologies that include complications during pregnancy, poor prenatal care, parental smoking, maternal alcohol consumption or stress. Numerous epidemiological and experimental studies demonstrate that birth weight is inversely associated with blood pressure and coronary heart disease. Sex and age impact the developmental programming of hypertension. In addition, impaired growth during fetal life also programs enhanced vulnerability to a secondary insult. Macrosomia, which occurs in response to maternal obesity, diabetes and excessive weight gain during gestation, is also associated with increased cardiovascular risk. Yet, the exact mechanisms that permanently change the structure, physiology and endocrine health of an individual across their lifespan following altered growth during fetal life are not entirely clear. Transmission of increased risk from one generation to the next in the absence of an additional prenatal insult indicates an important role for epigenetic processes. Experimental studies also indicate that the sympathetic nervous system, the renin angiotensin system, increased production of oxidative stress and increased endothelin play an important role in the developmental programming of blood pressure in later life. Thus, this review will highlight how adverse influences during fetal life and early development program an increased risk for cardiovascular disease including high blood pressure and provide an overview of the underlying mechanisms that contribute to the fetal origins of cardiovascular pathology. PMID:25880521

  17. Fetal programming and cardiovascular pathology.

    Science.gov (United States)

    Alexander, Barbara T; Dasinger, John Henry; Intapad, Suttira

    2015-04-01

    Low birth weight serves as a crude proxy for impaired growth during fetal life and indicates a failure for the fetus to achieve its full growth potential. Low birth weight can occur in response to numerous etiologies that include complications during pregnancy, poor prenatal care, parental smoking, maternal alcohol consumption, or stress. Numerous epidemiological and experimental studies demonstrate that birth weight is inversely associated with blood pressure and coronary heart disease. Sex and age impact the developmental programming of hypertension. In addition, impaired growth during fetal life also programs enhanced vulnerability to a secondary insult. Macrosomia, which occurs in response to maternal obesity, diabetes, and excessive weight gain during gestation, is also associated with increased cardiovascular risk. Yet, the exact mechanisms that permanently change the structure, physiology, and endocrine health of an individual across their lifespan following altered growth during fetal life are not entirely clear. Transmission of increased risk from one generation to the next in the absence of an additional prenatal insult indicates an important role for epigenetic processes. Experimental studies also indicate that the sympathetic nervous system, the renin angiotensin system, increased production of oxidative stress, and increased endothelin play an important role in the developmental programming of blood pressure in later life. Thus, this review will highlight how adverse influences during fetal life and early development program an increased risk for cardiovascular disease including high blood pressure and provide an overview of the underlying mechanisms that contribute to the fetal origins of cardiovascular pathology. © 2015 American Physiological Society.

  18. Fetal karyotype: can we always trust its result?

    Directory of Open Access Journals (Sweden)

    Carolina Leite Drummond

    2008-09-01

    Full Text Available We retrospectively investigated six cases of discrepancy between prenatal fetal karyotype and postnatal findings. In five cases, the chromosomal abnormalities initially found by CVS or amniocentesis were not confirmed by later analyses and postnatal examination. In one case, the fetal karyotype found to be normal by CVS had to be checked due to sonographic features and clinical anomalies found after birth. In most cases, the normal development on sonographic examination raised the doubt about the abnormal fetal karyotype. Discrepant findings between fetal karyotype results and sonographic findings require great caution in their interpretation and counseling of parents. Placental confined mosaicism seems to be the most frequent cause of such discrepant results. The interpretation of fetal karyotype results should always be correlated with sonographic and clinical findings.

  19. Developmental programming: impact of excess prenatal testosterone on intrauterine fetal endocrine milieu and growth in sheep.

    Science.gov (United States)

    Veiga-Lopez, Almudena; Steckler, Teresa L; Abbott, David H; Welch, Kathleen B; MohanKumar, Puliyur S; Phillips, David J; Refsal, Kent; Padmanabhan, Vasantha

    2011-01-01

    Prenatal testosterone excess in sheep leads to reproductive and metabolic disruptions that mimic those seen in women with polycystic ovary syndrome. Comparison of prenatal testosterone-treated sheep with prenatal dihydrotestosterone-treated sheep suggests facilitation of defects by androgenic as well as androgen-independent effects of testosterone. We hypothesized that the disruptive impact of prenatal testosterone on adult pathology may partially depend on its conversion to estrogen and consequent changes in maternal and fetal endocrine environments. Pregnant Suffolk sheep were administered either cottonseed oil (control) or testosterone propionate in cottonseed oil (100 mg, i.m. twice weekly), from Day 30 to Day 90 of gestation (term is ~147 d). Maternal (uterine) and fetal (umbilical) arterial samples were collected at Days 64-66, 87-90, and 139-140 (range; referred to as D65, D90, and D140, respectively) of gestation. Concentrations of gonadal and metabolic hormones, as well as differentiation factors, were measured using liquid chromatography/mass spectrometer, radioimmunoassay, or ELISA. Findings indicate that testosterone treatment produced maternal and fetal testosterone levels comparable to adult males and D65 control male fetuses, respectively. Testosterone treatment increased fetal estradiol and estrone levels during the treatment period in both sexes, supportive of placental aromatization of testosterone. These steroidal changes were followed by a reduction in maternal estradiol levels at term, a reduction in activin A availability, and induction of intrauterine growth restriction in D140 female fetuses. Overall, our findings provide the first direct evidence in support of the potential for both androgenic as well as estrogenic contribution in the development of adult reproductive and metabolic pathology in prenatal testosterone-treated sheep.

  20. New treatment of early fetal chylothorax

    DEFF Research Database (Denmark)

    Nygaard, Ulrikka; Sundberg, Karin; Nielsen, Henriette Svarre

    2007-01-01

    OBJECTIVE: To evaluate OK-432, a preparation of Streptococcus pyogenes, in the treatment of early fetal chylothorax. METHODS: A prospective study of all fetuses (n=7) with persistent early chylothorax (gestational ages 16-21 weeks) referred to the tertiary center of fetal medicine in Denmark in 2...

  1. Glucocorticoid programming of the fetal male hippocampal epigenome.

    Science.gov (United States)

    Crudo, Ariann; Suderman, Matthew; Moisiadis, Vasilis G; Petropoulos, Sophie; Kostaki, Alisa; Hallett, Michael; Szyf, Moshe; Matthews, Stephen G

    2013-03-01

    The late-gestation surge in fetal plasma cortisol is critical for maturation of fetal organ systems. As a result, synthetic glucocorticoids (sGCs) are administered to pregnant women at risk of delivering preterm. However, animal studies have shown that fetal exposure to sGC results in increased risk of behavioral, endocrine, and metabolic abnormalities in offspring. Here, we test the hypothesis that prenatal GC exposure resulting from the fetal cortisol surge or after sGC exposure results in promoter-specific epigenetic changes in the hippocampus. Fetal guinea pig hippocampi were collected before (gestational day [GD52]) and after (GD65) the fetal plasma cortisol surge (Term∼GD67) and 24 hours after (GD52) and 14 days after (GD65) two repeat courses of maternal sGC (betamethasone) treatment (n = 3-4/gp). We identified extensive genome-wide alterations in promoter methylation in late fetal development (coincident with the fetal cortisol surge), whereby the majority of the affected promoters exhibited hypomethylation. Fetuses exposed to sGC in late gestation exhibited substantial differences in DNA methylation and histone h3 lysine 9 (H3K9) acetylation in specific gene promoters; 24 hours after the sGC treatment, the majority of genes affected were hypomethylated or hyperacetylated. However, 14 days after sGC exposure these differences did not persist, whereas other promoters became hypermethylated or hyperacetylated. These data support the hypothesis that the fetal GC surge is responsible, in part, for significant variations in genome-wide promoter methylation and that prenatal sGC treatment profoundly changes the epigenetic landscape, affecting both DNA methylation and H3K9 acetylation. This is important given the widespread use of sGC in the management of women in preterm labor.

  2. Piracetam for fetal distress in labour.

    Science.gov (United States)

    Hofmeyr, G Justus; Kulier, Regina

    2012-06-13

    Piracetam is thought to promote the metabolism of brain cells when they are hypoxic. It has been used to prevent adverse effects of fetal distress. The objective of this review was to assess the effects of piracetam for suspected fetal distress in labour on method of delivery and perinatal morbidity. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (15 February 2012). Randomised trials of piracetam compared with placebo or no treatment for suspected fetal distress in labour. Both review authors assessed eligibility and trial quality. One study of 96 women was included. Piracetam compared with placebo was associated with a trend to reduced need for caesarean section (risk ratio 0.57, 95% confidence interval 0.32 to 1.03). There were no statistically significant differences between the piracetam and placebo group for neonatal morbidity (measured by neonatal respiratory distress) or Apgar score. There is not enough evidence to evaluate the use of piracetam for fetal distress in labour.

  3. National natality and fetal mortality surveys

    International Nuclear Information System (INIS)

    Roney, P.L.

    1980-01-01

    A project is described in which the Epidemiologic Studies Branch, DBE, is cooperating with the National Center for Health Statistics in a National Natality Survey and a National Fetal Mortality Survey of a sample of live births and of late fetal deaths (28 or more weeks gestation) in 1979. Questionnaires will be sent to a sample of mothers who had a live born infant or late fetal death in 1979, to hospitals in which the deliveries took place, to attending physicians, and all other possible sources of health care. The survey will provide quantitative information regarding use of ionizing and nonionizing radiation, including ultrasound, during pregnancy and possible associations between radiation and late fetal mortality. Specifically the study will provide information on the demographic and socioeconomic characteristics of the mothers and complications of pregnancy, labor, and delivery. The physical condition of the infant at birth is also included. This is one of many health surveys conducted routinely by the NCHS under the National Health Survey program

  4. Evaluation of fetal anomalies with MR imaging

    International Nuclear Information System (INIS)

    Benson, R.C.; Platt, L.D.; Colletti, P.M.; Raval, J.K.; Boswell, W.D. Jr.; Halls, J.M.

    1987-01-01

    Twenty pregnant women underwent MR imaging (0.5 T) after US disclosed a significant fetal anomaly. The ability of MR imaging to depict the abnormalities was assessed. Of 20 abnormalities, 17 were visualized with MR imaging. Abnormalities included conjoined twins, omphalocele, gastroschisis, hydrocephalus, hydronephrosis, fetal ascites, facial teratoma, anencephaly, bladder outlet obstruction, thanatophoric dwarfism, cystic, hygroma, and fetal ovarian cyst. Thirteen of 14 abnormalities in third-trimester fetuses were visualized, as were four of six abnormalities in second-trimester fetuses. Associated polyhydramnios or oligohydramnios was evident in six of six cases. Anomalies were best delineated with T1-weighted sequences. The study suggests that MR imaging is potentially useful as a complementary imaging modality in the evaluation of fetal anomalies

  5. Impact of chronic maternal stress during early gestation on maternal-fetal stress transfer and fetal stress sensitivity in sheep.

    Science.gov (United States)

    Dreiling, Michelle; Schiffner, Rene; Bischoff, Sabine; Rupprecht, Sven; Kroegel, Nasim; Schubert, Harald; Witte, Otto W; Schwab, Matthias; Rakers, Florian

    2018-01-01

    Acute stress-induced reduction of uterine blood flow (UBF) is an indirect mechanism of maternal-fetal stress transfer during late gestation. Effects of chronic psychosocial maternal stress (CMS) during early gestation, as may be experienced by many working women, on this stress signaling mechanism are unclear. We hypothesized that CMS in sheep during early gestation augments later acute stress-induced decreases of UBF, and aggravates the fetal hormonal, cardiovascular, and metabolic stress responses during later development. Six pregnant ewes underwent repeated isolation stress (CMS) between 30 and 100 days of gestation (dGA, term: 150 dGA) and seven pregnant ewes served as controls. At 110 dGA, ewes were chronically instrumented and underwent acute isolation stress. The acute stress decreased UBF by 19% in both the CMS and control groups (p stress-induced cortisol and norepinephrine concentrations indicating a hyperactive hypothalamus-pituitary-adrenal (HPA)-axis and sympathetic-adrenal-medullary system. Increased fetal norepinephrine is endogenous as maternal catecholamines do not cross the placenta. Cortisol in the control but not in the CMS fetuses was correlated with maternal cortisol blood concentrations; these findings indicate: (1) no increased maternal-fetal cortisol transfer with CMS, (2) cortisol production in CMS fetuses when the HPA-axis is normally inactive, due to early maturation of the fetal HPA-axis. CMS fetuses were better oxygenated, without shift towards acidosis compared to the controls, potentially reflecting adaptation to repeated stress. Hence, CMS enhances maternal-fetal stress transfer by prolonged reduction in UBF and increased fetal HPA responsiveness.

  6. Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.

    Science.gov (United States)

    Bouchlariotou, Sofia; Tsikouras, Panagiotis; Dimitraki, Marina; Athanasiadis, Apostolos; Papoulidis, Ioannis; Maroulis, George; Liberis, Anastasios; Liberis, Vasileios

    2011-05-01

    Turner's syndrome is characterized by an ovarian failure which occurs in most cases before puberty and leads to infertility. In less than 10% of women with Turner syndrome, puberty may occur and spontaneous pregnancies is possible but with a high risk of fetal loss, chromosomal and congenital abnormalities. We present the case of a 33-year-old woman with a mosaic Turner's syndrome karyotype 45,X/47,XXX who conceived spontaneously and had two successful pregnancies. Short stature was the only manifestation of Turner's syndrome. In the present report, we reviewed the available literature on the fertility of women with Turner's syndrome and the phenotypic effects of mosaicism for a 47,XXX cell line in Turner's syndrome.

  7. Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Tullo Domenica

    2011-01-01

    Full Text Available Abstract Introduction Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds. Case presentation We describe the craniofacial and dental characteristics of a 12-year-old Caucasian Italian boy with both the typical and less common findings of Dubowitz syndrome. Conclusion Diagnosis of Dubowitz syndrome is mainly based on the facial phenotype. Possible conditions for differential diagnosis include Bloom syndrome, Smith-Lemli-Opitz syndrome, and fetal alcohol syndrome. As there are few reports of this syndrome in the literature, we hope this case report will enable health professionals to recognize the phenotypic alterations of this syndrome, and allow early referral for the necessary multidisciplinary treatments.

  8. Endocrine regulation of fetal skeletal muscle growth: impact on future metabolic health

    Science.gov (United States)

    Brown, Laura D.

    2014-01-01

    Establishing sufficient skeletal muscle mass is essential for lifelong metabolic health. The intrauterine environment is a major determinant of the muscle mass that is present for the life course of an individual, because muscle fiber number is set at the time of birth. Thus, a compromised intrauterine environment from maternal nutrient restriction or placental insufficiency that restricts development of muscle fiber number can have permanent effects on the amount of muscle an individual will live with. Reduced muscle mass due to fewer muscle fibers persists even after compensatory or “catch up” postnatal growth occurs. Furthermore, muscle hypertrophy can only partially compensate for this limitation in fiber number. Compelling associations link low birth weight and decreased muscle mass to future insulin resistance, which can drive the development of the metabolic syndrome and type 2 diabetes, and risk for cardiovascular events later in life. There are gaps in knowledge about the origins of reduced muscle growth at the cellular level and how these patterns are set during fetal development. By understanding the nutrient and endocrine regulation of fetal skeletal muscle growth and development, we can direct research efforts towards improving muscle growth early in life in order to prevent the development of chronic metabolic disease later in life. PMID:24532817

  9. ACR Appropriateness Criteria Assessment of Fetal Well-Being.

    Science.gov (United States)

    Simpson, Lynn; Khati, Nadia J; Deshmukh, Sandeep P; Dudiak, Kika M; Harisinghani, Mukesh G; Henrichsen, Tara L; Meyer, Benjamin J; Nyberg, David A; Poder, Liina; Shipp, Thomas D; Zelop, Carolyn M; Glanc, Phyllis

    2016-12-01

    Although there is limited evidence that antepartum testing decreases the risk for fetal death in low-risk pregnancies, women with high-risk factors for stillbirth should undergo antenatal fetal surveillance. The strongest evidence supporting antepartum testing pertains to pregnancies complicated by intrauterine fetal growth restriction secondary to uteroplacental insufficiency. The main ultrasound-based modalities to determine fetal health are the biophysical profile, modified biophysical profile, and duplex Doppler velocimetry. In patients at risk for cardiovascular compromise, fetal echocardiography may also be indicated to ensure fetal well-being. Although no single antenatal test has been shown to be superior, all have high negative predictive values. Weekly or twice-weekly fetal testing has become the standard practice in high-risk pregnancies. The timing for the initiation of assessments of fetal well-being should be tailored on the basis of the risk for stillbirth and the likelihood of survival with intervention. The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer-reviewed journals and the application of well-established methodologies (the RAND/UCLA Appropriateness Method and the Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances in which evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment. Copyright © 2016 American College of Radiology. Published by Elsevier Inc. All rights reserved.

  10. Sex differences in the fetal programming of hypertension.

    Science.gov (United States)

    Grigore, Daniela; Ojeda, Norma B; Alexander, Barbara T

    2008-01-01

    Numerous clinical and experimental studies support the hypothesis that the intrauterine environment is an important determinant of cardiovascular disease and hypertension. This review examined the mechanisms linking an adverse fetal environment and increased risk for chronic disease in adulthood with an emphasis on gender differences and the role of sex hormones in mediating sexual dimorphism in response to a suboptimal fetal environment. This review focuses on current findings from the PubMed database regarding animal models of fetal programming of hypertension, sex differences in phenotypic outcomes, and potential mechanisms in offspring of mothers exposed to an adverse insult during gestation. For the years 1988 to 2007, the database was searched using the following terms: fetal programming, intrauterine growth restriction, low birth weight, sex differences, estradiol, testosterone, high blood pressure, and hypertension. The mechanisms involved in the fetal programming of adult disease are multifactorial and include alterations in the regulatory systems affecting the long-tterm control of arterial pressure. Sex differences have been observed in animal models of fetal programming, and recent studies suggest that sex hormones may modulate activity of regulatory systems, leading to a lower incidence of hypertension and vascular dysfunction in females compared with males. Animal models of fetal programming provide critical support for the inverse relationship between birth weight and blood pressure. Experimental models demonstrate that sex differences are observed in the pathophysiologic response to an adverse fetal environment. A role for sex hormone involvement is strongly suggested,with modulation of the renin-angiotensin system as a possible mechanism.

  11. Fetal DNA: strategies for optimal recovery

    NARCIS (Netherlands)

    Legler, Tobias J.; Heermann, Klaus-Hinrich; Liu, Zhong; Soussan, Aicha Ait; van der Schoot, C. Ellen

    2008-01-01

    For fetal DNA extraction, in principle each DNA extraction method can be used; however, because most methods have been optimized for genomic DNA from leucocytes, we describe here the methods that have been optimized for the extraction of fetal DNA from maternal plasma and validated for this purpose

  12. Routine screening for fetal anomalies: expectations.

    Science.gov (United States)

    Goldberg, James D

    2004-03-01

    Ultrasound has become a routine part of prenatal care. Despite this, the sensitivity and specificity of the procedure is unclear to many patients and healthcare providers. In a small study from Canada, 54.9% of women reported that they had received no information about ultrasound before their examination. In addition, 37.2% of women indicated that they were unaware of any fetal problems that ultrasound could not detect. Most centers that perform ultrasound do not have their own statistics regarding sensitivity and specificity; it is necessary to rely on large collaborative studies. Unfortunately, wide variations exist in these studies with detection rates for fetal anomalies between 13.3% and 82.4%. The Eurofetus study is the largest prospective study performed to date and because of the time and expense involved in this type of study, a similar study is not likely to be repeated. The overall fetal detection rate for anomalous fetuses was 64.1%. It is important to note that in this study, ultrasounds were performed in tertiary centers with significant experience in detecting fetal malformations. The RADIUS study also demonstrated a significantly improved detection rate of anomalies before 24 weeks in tertiary versus community centers (35% versus 13%). Two concepts seem to emerge from reviewing these data. First, patients must be made aware of the limitations of ultrasound in detecting fetal anomalies. This information is critical to allow them to make informed decisions whether to undergo ultrasound examination and to prepare them for potential outcomes.Second, to achieve the detection rates reported in the Eurofetus study, ultrasound examination must be performed in centers that have extensive experience in the detection of fetal anomalies.

  13. Sonographic fetal weight estimation using femoral length: Honarvar Equation

    International Nuclear Information System (INIS)

    Firoozabadi, Raziah Dehghani; Ghasemi, N.; Firoozabadi, Mehdi Dehghani

    2007-01-01

    Fetal growth is the result of interactions between various factors and can be estimated by ultrasonic measurements. Fetal femur length is a scale for estimating the fetal weight in individual races because fetal growth patterns differ among different races. This was a prospective study involving 500 pregnant women at 36 weeks of gestational age. Real-time sonography was done to measure the femoral length and the weight of the fetus was estimated by the Honarvar 2 equation. The correlation between estimated fetal weight (EFW) and real weight was tested by Pearson correlation coefficient and relationships with the age and BMI of mother, the sex of the neonate and parity were tested by multiple regression. EFW by the Honarvar 2 equation correlated significantly with actual birthweight. Therefore, this equation is valid for fetal weight estimation. It also does not depend on the age and BMI of the mother, sex of the neonate, parity. Ethnicity potentially plays an important role in the fetal weight estimation. The Honarvar formula produced the best estimate of the actual birthweight for Iranian fetuses, and its use is recommended. (author)

  14. Maternal methadone dosing schedule and fetal neurobehavior

    Science.gov (United States)

    Jansson, Lauren M.; DiPietro, Janet A.; Velez, Martha; Elko, Andrea; Knauer, Heather; Kivlighan, Katie T.

    2008-01-01

    Objective Daily methadone maintenance is the standard of care for opiate dependency during pregnancy. Previous research has indicated that single-dose maternal methadone administration significantly suppresses fetal neurobehaviors. The purpose of this study was to determine if split-dosing would have less impact on fetal neurobehavior than single-dose administration. Methods Forty methadone-maintained women were evaluated at peak and trough maternal methadone levels on single- and split-dosing schedules. Monitoring sessions occurred at 36 and 37 weeks gestation in a counterbalanced study design. Fetal measures included heart rate, variability, accelerations, motor activity and fetal movement-heart rate coupling (FM-FHR). Maternal measures included heart period, variability, skin conductance, respiration and vagal tone. Repeated measure analysis of variance was used to evaluate within-subject changes between split- and single-dosing regimens. Results All fetal neurobehavioral parameters were suppressed by maternal methadone administration, regardless of dosing regimen. Fetal parameters at peak were significantly lower during single vs. split methadone administration. FM-FHR coupling was less suppressed from trough to peak during split-dosing vs. single-dosing. Maternal physiologic parameters were generally unaffected by dosing condition. Conclusion Split- dosed fetuses displayed less neurobehavioral suppression from trough to peak maternal methadone levels as compared to single-dosed fetuses. Split-dosing may be beneficial for methadone-maintained pregnant women. PMID:19085624

  15. Fetal pain

    NARCIS (Netherlands)

    Adama van Scheltema, Phebe

    2011-01-01

    Recent studies have suggested that the fetus is capable of exhibiting a stress response to intrauterine needling, resulting in alterations in fetal stress hormone levels. Intrauterine transfusions are performed by inserting a needle either in the umbilical cord root at the placental surface (PCI),

  16. [Emergency cesarean in a patient with Coffin-Siris syndrome].

    Science.gov (United States)

    Fornet, I; Morillas, P; López, M A; Palacio, F J; Aguilar, J M; Mesa, J L

    2007-11-01

    Coffin-Siris syndrome is a rare genetic disease characterized by coarse facial features, sparse scalp hair, hirsutism, hypoplasia of the distal phalanges, hypoplastic nail in the fifth digit, and mental retardation and delayed growth evident in both weight and height. Most cases are sporadic, but the possibility of recessive or dominant autosomal inheritance has been suggested. Facial abnormalities that make intubation difficult and mental retardation that interferes with cooperation are aspects of this disease that can affect the choice of type of anesthesia. We report the case of a parturient with Coffin-Siris syndrome who refused epidural analgesia for labor pain and for whom the obstetrician later decided that an emergency cesarean was necessary due to fetal distress.

  17. Prenatal treatment of Down syndrome: a reality?

    Science.gov (United States)

    Guedj, Fayçal; Bianchi, Diana W; Delabar, Jean-Maurice

    2014-04-01

    Down syndrome affects more than 5 million people globally. During the last 10 years, there has been a dramatic increase in the research efforts focused on therapeutic interventions to improve learning and memory in Down syndrome. This review summarizes the different functional abnormalities targeted by researchers in mouse models of Down syndrome. Three main strategies have been used: neural stem cell implantation; environmental enrichment and physical exercise; and pharmacotherapy. Pharmacological targets include the choline pathway, GABA and NMDA receptors, DYRK1A protein, oxidative stress and pathways involved in development and neurogenesis. Many strategies have improved learning and memory as well as electrophysiological and molecular alterations in affected animals. To date, eight molecules have been tested in human adult clinical trials. No studies have yet been performed on infants. However, compelling studies reveal that permanent brain alterations originate during fetal life in Down syndrome. Early prenatal diagnosis offers a 28 weeks window to positively impact brain development and improve postnatal cognitive outcome in affected individuals. Only a few approaches (Epigallocatechine gallate, NAP/SAL, fluoxetine, and apigenin) have been used to treat mice in utero; these showed therapeutic effects that persisted to adulthood. In this article, we discuss the challenges, recent progress, and lessons learned that pave the way for new therapeutic approaches in Down syndrome.

  18. Identification of the gene for Nance-Horan syndrome (NHS).

    Science.gov (United States)

    Brooks, S P; Ebenezer, N D; Poopalasundaram, S; Lehmann, O J; Moore, A T; Hardcastle, A J

    2004-10-01

    The disease intervals for Nance-Horan syndrome (NHS [MIM 302350]) and X linked congenital cataract (CXN) overlap on Xp22. To identify the gene or genes responsible for these diseases. Families with NHS were ascertained. The refined locus for CXN was used to focus the search for candidate genes, which were screened by polymerase chain reaction and direct sequencing of potential exons and intron-exon splice sites. Genomic structures and homologies were determined using bioinformatics. Expression studies were undertaken using specific exonic primers to amplify human fetal cDNA and mouse RNA. A novel gene NHS, with no known function, was identified as causative for NHS. Protein truncating mutations were detected in all three NHS pedigrees, but no mutation was identified in a CXN family, raising the possibility that NHS and CXN may not be allelic. The NHS gene forms a new gene family with a closely related novel gene NHS-Like1 (NHSL1). NHS and NHSL1 lie in paralogous duplicated chromosomal intervals on Xp22 and 6q24, and NHSL1 is more broadly expressed than NHS in human fetal tissues. This study reports the independent identification of the gene causative for Nance-Horan syndrome and extends the number of mutations identified.

  19. Fetal bowel anomalies - US and MR assessment

    Energy Technology Data Exchange (ETDEWEB)

    Rubesova, Erika [Stanford University, Department of Radiology, Lucile Packard Children' s Hospital, Stanford, CA (United States)

    2012-01-15

    The technical quality of prenatal US and fetal MRI has significantly improved during the last decade and allows an accurate diagnosis of bowel pathology prenatally. Accurate diagnosis of bowel pathology in utero is important for parental counseling and postnatal management. It is essential to recognize the US presentation of bowel pathology in the fetus in order to refer the patient for further evaluation or follow-up. Fetal MRI has been shown to offer some advantages over US for specific bowel abnormalities. In this paper, we review the normal appearance of the fetal bowel on US and MRI as well as the typical presentations of bowel pathologies. We discuss more specifically the importance of recognizing on fetal MRI the abnormalities of size and T1-weighted signal of the meconium-filled distal bowel. (orig.)

  20. Congenital Rubella Syndrome - A Major Review and Update

    Directory of Open Access Journals (Sweden)

    Nure Ishrat Nazme

    2015-07-01

    Full Text Available Rubella is a major public health problem which is usually a mild rash illness in children and adults. However, it has devastating systemic consequences when rubella virus crosses the placental barrier and infects fetal tissue resulting in congenital rubella syndrome (CRS. Congenital rubella syndrome is an under-recognized public health problem in Bangladesh and the burden of the disease weighs heavily on patients and society; therefore, routine vaccination and other preventative strategies are strongly encouraged. Extensive surveillance studies should be conducted to eliminate CRS from our country. In this review, we will characterize the epidemiology of CRS; describe the patho-phyisiology, clinical features and laboratory testing for the disease, and discuss measures needed for prevention of rubella and CRS.

  1. The relationship between fetal biophysical profile and cord blood PH

    Directory of Open Access Journals (Sweden)

    Valadan M

    2009-02-01

    Full Text Available "nBackground: The Biophysical Profile (BPP is a noninvasive test that predicts the presence or absence of fetal asphyxia and, ultimately, the risk of fetal death in the antenatal period. Intervention on the basis of an abnormal biophysical profile result has been reported to yield a significant reduction in prenatal mortality, and an association exists between biophysical profile scoring and a decreased cerebral palsy rate in a given population. The BPP evaluates five characteristics: fetal movement, tone, breathing, heart reactivity, and amniotic fluid (AF volume estimation. The purpose of study was to determine whether there are different degree of acidosis at which the biophysical activity (acute marker are affected. "nMethods: In a prospective study of 140 patients undergoing cesarean section before onset of labor, the fetal biophysical profile was performed 24h before the time of cesarean and was matched with cord arterial PH that was obtained from a cord segment (10-20cm that was double clamped after delivery of newborn. (using cord arterial PH less than 7.20 for the diagnosis of acidosis. "nResults: The fetal biophysical profile was found to have a significant relationship with umbilical blood PH. The sensitivity, specificity, positive predictive value, negative predictive value of fetal biophysical profile score were: 88.9%, 88.6%, 50%, 98.1%. "nConclusion: The first manifestations of fetal acidosis are nonreactive nonstress testing and fetal breathing loss; in advanced acidemia fetal movements and fetal tone are compromised. A protocol of antepartum fetal evaluation is suggested based upon the individual biophysical components rather than the score alone.

  2. Fetal Intracranial Hemorrhage (Fetal Stroke: Report of Four Antenatally Diagnosed Casesand Review of the Literature

    Directory of Open Access Journals (Sweden)

    Ying-Fen Huang

    2006-06-01

    Conclusion: This small series demonstrate that an antenatal diagnosis of fetal stroke with intraventricular hemorrhage Grades III and IV or with brain parenchymal involvement appears to be associated with poor neurologic outcome. Due to the significant neonatal neurologic impairment and potential medicolegal implications of antepartum fetal ICH, it follows that obstetricians and sonographers should be familiar with predisposing factors and typical diagnostic imaging findings of rare in utero ICH events.

  3. Prospective risk of fetal death in uncomplicated monochorionic twins.

    LENUS (Irish Health Repository)

    Farah, Nadine

    2012-03-01

    A retrospective cohort study was carried out in a university teaching hospital to determine the prospective risk of unexpected fetal death in uncomplicated monochorionic diamniotic (MCDA) twin pregnancies after viability. All MCDA twins delivered at or after 24 weeks\\' gestation from July 1999 to July 2007 were included. Pregnancies with twin-twin transfusion syndrome, growth restriction, structural abnormalities, or twin reversed arterial perfusion sequence were excluded. Of the 144 MCDA twin pregnancies included in our analysis, the risk of intrauterine death was 4.9%. The prospective risk of unexpected intrauterine death was 1 in 43 after 32 weeks\\' gestation and 1 in 37 after 34 weeks\\' gestation. Our results demonstrate that despite close surveillance, the unexpected intrauterine death rate in uncomplicated MCDA twin pregnancies is high. This rate seems to increase after 34 weeks\\' gestation, suggesting that a policy of elective preterm delivery warrants evaluation.

  4. Acute Chest Syndrome in Sickle Cell Disease Patients Post Caesarean Delivery

    Directory of Open Access Journals (Sweden)

    YM Zhang

    2016-02-01

    Full Text Available Sickle cell disease (SCD is the most common inherited disease worldwide and is associated with anaemia and intermittent painful crisis. Pregnant women who are affected are known to have increased maternal and fetal mortality and morbidity. Acute chest syndrome (ACS is an uncommon but serious complication in pregnant women with SCD that can lead to death. We present two cases of patients with SCD, both of whom had severe ACS within 24 hours post Caesarean section. By accurate diagnosis and appropriate management by a multidisciplinary team, both mothers and fetuses had excellent outcomes. It is suggested that prompt recognition of ACS in a pregnant woman with SCD and collaborative medical and obstetric management are essential to optimize maternal and fetal outcomes.

  5. Enfermedad celiaca asociada a síndrome antifosfolípido Celiac disease associated with antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    O. Jorge

    2008-02-01

    Full Text Available Introducción: la enfermedad celiaca puede asociarse a patologías de etiología inmunológica. Presentamos su asociación con síndrome antifosfolípido. Caso 1: mujer, 26 años, diagnosticada de enfermedad celiaca. Seis meses después queda embarazada, presentando muerte fetal. Al año siguiente nuevo embarazo. Anticuerpos anticardiolipina IgG: 20 GPL U/ml (valor normal Introduction: celiac disease may be associated with pathologies of immune etiology. We present its association with antiphospholipid syndrome. Case 1: a 26-year-old female was diagnosed with celiac disease. Six months later she became pregnant, and experienced fetal death. The following year she became pregnant again. IgG anticardiolipin antibodies: 20 GPL U/ml (normal value < 11, and IgM anticardiolipin antibodies: 9 MPL U/ml (n. v. < 10. Hematological tests were otherwise uneventful. Medicated with acetylsalicylic acid she had a normal pregnancy. Case 2: a 48-year-old female diagnosed with celiac disease presented with thrombosis in her left lower limb and renal infarction. Hematological tests showed no prothrombotic alterations (antiphospholipid antibodies were not measured. A year and a half later she had thrombosis in a finger of her hand. IgG anticardiolipin antibodies: 10 GPL (n. v. < 13, and IgM anticardiolipin antibodies: 35 MPL (n. v. < 12. Case 3: a 38-year-old female was diagnosed with celiac disease. Some time later she experienced two spontaneous abortions and a transient ischemic cerebral attack. Nowadays, she is in her sixth month of pregnancy. IgM anticardiolipin antibodies: 75 MPL/ml (n. v. up to 20, and IgG anticardiolipin antibodies within normal values. Hematological tests revealed no other prothrombotic alterations. Discussion: antiphospholipid syndrome is characterized by arterial and venous thrombosis, and spontaneous fetal death. Its association with celiac disease has been described in few cases. Celiac disease is associated with spontaneous fetal

  6. Fetal Intelligent Navigation Echocardiography (FINE): a novel method for rapid, simple, and automatic examination of the fetal heart.

    Science.gov (United States)

    Yeo, Lami; Romero, Roberto

    2013-09-01

    To describe a novel method (Fetal Intelligent Navigation Echocardiography (FINE)) for visualization of standard fetal echocardiography views from volume datasets obtained with spatiotemporal image correlation (STIC) and application of 'intelligent navigation' technology. We developed a method to: 1) demonstrate nine cardiac diagnostic planes; and 2) spontaneously navigate the anatomy surrounding each of the nine cardiac diagnostic planes (Virtual Intelligent Sonographer Assistance (VIS-Assistance®)). The method consists of marking seven anatomical structures of the fetal heart. The following echocardiography views are then automatically generated: 1) four chamber; 2) five chamber; 3) left ventricular outflow tract; 4) short-axis view of great vessels/right ventricular outflow tract; 5) three vessels and trachea; 6) abdomen/stomach; 7) ductal arch; 8) aortic arch; and 9) superior and inferior vena cava. The FINE method was tested in a separate set of 50 STIC volumes of normal hearts (18.6-37.2 weeks of gestation), and visualization rates for fetal echocardiography views using diagnostic planes and/or VIS-Assistance® were calculated. To examine the feasibility of identifying abnormal cardiac anatomy, we tested the method in four cases with proven congenital heart defects (coarctation of aorta, tetralogy of Fallot, transposition of great vessels and pulmonary atresia with intact ventricular septum). In normal cases, the FINE method was able to generate nine fetal echocardiography views using: 1) diagnostic planes in 78-100% of cases; 2) VIS-Assistance® in 98-100% of cases; and 3) a combination of diagnostic planes and/or VIS-Assistance® in 98-100% of cases. In all four abnormal cases, the FINE method demonstrated evidence of abnormal fetal cardiac anatomy. The FINE method can be used to visualize nine standard fetal echocardiography views in normal hearts by applying 'intelligent navigation' technology to STIC volume datasets. This method can simplify

  7. Assisted reproduction causes placental maldevelopment and dysfunction linked to reduced fetal weight in mice.

    Science.gov (United States)

    Chen, Shuqiang; Sun, Fang-zhen; Huang, Xiuying; Wang, Xiaohong; Tang, Na; Zhu, Baoyi; Li, Bo

    2015-06-18

    Compelling evidence indicates that stress in utero, as manifested by low birth weight (LBW), increases the risk of metabolic syndrome in adulthood. Singletons conceived by assisted reproductive technology (ART) display a significant increase in LBW risk and ART offspring have a different metabolic profile starting at birth. Here, used mouse as a model, we found that ART resulted in reduced fetal weight and placental overgrowth at embryonic day 18.5 (E18.5). The ART placentae exhibited histomorphological alterations with defects in placental layer segregation and glycogen cells migration at E18.5. Further, ART treatments resulted in downregulation of a majority of placental nutrient transporters and reduction in placental efficiency. Moreover, the ART placentae were associated with increased methylation levels at imprinting control regions of H19, KvDMR1 and disrupted expression of a majority of imprinted genes important for placental development and function at E18.5. Our results from the mouse model show the first piece of evidence that ART treatment could affect fetal growth by disrupting placental development and function, suggests that perturbation of genomic imprinting resulted from embryo manipulation may contribute to these problems.

  8. Evaluation of Subependymal Gray Matter Heterotopias on Fetal MRI.

    Science.gov (United States)

    Nagaraj, U D; Peiro, J L; Bierbrauer, K S; Kline-Fath, B M

    2016-04-01

    Subependymal grey matter heterotopias are seen in a high proportion of children with Chiari II malformation and are potentially clinically relevant. However, despite its growing use, there is little in the literature describing its detection on fetal MRI. Our aim was to evaluate the accuracy in diagnosing subependymal gray matter heterotopias in fetuses with spinal dysraphism on fetal MR imaging. This study is a retrospective analysis of 203 fetal MRIs performed at a single institution for spinal dysraphism during a 10-year period. Corresponding obstetric sonography, postnatal imaging, and clinical/operative reports were reviewed. Of the fetal MRIs reviewed, 95 fetuses were included in our analysis; 23.2% (22/95) were suspected of having subependymal gray matter heterotopias on fetal MR imaging prospectively. However, only 50% (11/22) of these cases were confirmed on postnatal brain MR imaging. On postnatal brain MR imaging, 28.4% (27/95) demonstrated imaging findings consistent with subependymal gray matter heterotopia. Only 40.7% (11/27) of these cases were prospectively diagnosed on fetal MR imaging. Fetal MR imaging is limited in its ability to identify subependymal gray matter heterotopias in fetuses with spinal dysraphism. It is believed that this limitation relates to a combination of factors, including artifacts from fetal motion, the very small size of fetal neuroanatomy, differences in imaging techniques, and, possibly, irregularity related to denudation of the ependyma/subependyma in the presence of spinal dysraphism and/or stretching of the germinal matrix in ventriculomegaly. © 2016 by American Journal of Neuroradiology.

  9. Improved Dielectric Properties and Energy Storage Density of Poly(vinylidene fluoride-co-hexafluoropropylene) Nanocomposite with Hydantoin Epoxy Resin Coated BaTiO3.

    Science.gov (United States)

    Luo, Hang; Zhang, Dou; Jiang, Chao; Yuan, Xi; Chen, Chao; Zhou, Kechao

    2015-04-22

    Energy storage materials are urgently demanded in modern electric power supply and renewable energy systems. The introduction of inorganic fillers to polymer matrix represents a promising avenue for the development of high energy density storage materials, which combines the high dielectric constant of inorganic fillers with supernal dielectric strength of polymer matrix. However, agglomeration and phase separation of inorganic fillers in the polymer matrix remain the key barriers to promoting the practical applications of the composites for energy storage. Here, we developed a low-cost and environmentally friendly route to modifying BaTiO3 (BT) nanoparticles by a kind of water-soluble hydantoin epoxy resin. The modified BT nanoparticles exhibited homogeneous dispersion in the ferroelectric polymer poly(vinylidene fluoride-co-hexafluoropropylene) (P(VDF-HFP)) matrix and strong interfacial adhesion with the polymer matrix. The dielectric constants of the nanocomposites increased significantly with the increase of the coated BT loading, while the dielectric loss of the nanocomposites was still as low as that of the pure P(VDF-HFP). The energy storage density of the nanocomposites was largely enhanced with the coated BT loading at the same electric field. The nanocomposite with 20 vol % BT exhibited an estimated maximum energy density of 8.13 J cm(-3), which was much higher than that of pure P(VDF-HFP) and other dielectric polymers. The findings of this research could provide a feasible approach to produce high energy density materials for practical application in energy storage.

  10. Intrauterine Growth Restriction and the Fetal Programming of the Hedonic Response to Sweet Taste in Newborn Infants

    Directory of Open Access Journals (Sweden)

    Caroline Ayres

    2012-01-01

    Full Text Available Intrauterine growth restriction is associated with increased risk for adult metabolic syndrome and cardiovascular disease, which seems to be related to altered food preferences in these individuals later in life. In this study, we sought to understand whether intrauterine growth leads to fetal programming of the hedonic responses to sweet. Sixteen 1-day-old preterm infants received 24% sucrose solution or water and the taste reactivity was filmed and analyzed. Spearman correlation demonstrated a positive correlation between fetal growth and the hedonic response to the sweet solution in the first 15 seconds after the offer (r=0.864, P=0.001, without correlation when the solution given is water (r=0.314, P=0.455. In fact, the more intense the intrauterine growth restriction, the lower the frequency of the hedonic response observed. IUGR is strongly correlated with the hedonic response to a sweet solution in the first day of life in preterm infants. This is the first evidence in humans to demonstrate that the hedonic response to sweet taste is programmed very early during the fetal life by the degree of intrauterine growth. The altered hedonic response at birth and subsequent differential food preference may contribute to the increased risk of obesity and related disorders in adulthood in intrauterine growth-restricted individuals.

  11. Histochemical and radioautographic studies of normal human fetal colon

    International Nuclear Information System (INIS)

    Lev, R.; Orlic, D.; New York Medical Coll., N.Y.

    1974-01-01

    Twenty fetal and infant colons ranging from 10 weeks in utero to 20 months postpartum, and 12 adult human colons were examined using histochemical techniques in conjunction with in vitro radioautography using Na 2 35 SO 4 as a sulfomucin precursor. Only the sulfated components of mucus in fetal goblet cells was found to differ significantly from adult colonic mucins. In the fetus sulfomucin staining was much weaker than in the adult, and was more intense in the left colon which is the reverse of the adult pattern. Sulfomucin was concentrated in the crypts throughout the fetal colon whereas in the adult right colon it predominated in the surface cells. As in the adult, saponification liberated carboxyl groups, possibly belonging to sialic acid, and vicinal hydroxyl groups from fetal mucins suggesting that this procedure hydrolyses an ester linkage between these 2 reactive groups. During the middle trimester of fetal life the colon possesses villi whose constituent cells display alkaline phosphatase in their surface coat. These and other morphological and histochemical similarities to fetal small intestine suggest that the fetal colon may have a limited capacity to absorb materials contained within swallowed amniotic fluid during this period. (orig.) [de

  12. Does the Use of Diagnostic Technology Reduce Fetal Mortality?

    Science.gov (United States)

    Grytten, Jostein; Skau, Irene; Sørensen, Rune; Eskild, Anne

    2018-01-19

    To examine the effect that the introduction of new diagnostic technology in obstetric care has had on fetal death. The Medical Birth Registry of Norway provided detailed medical information for approximately 1.2 million deliveries from 1967 to 1995. Information about diagnostic technology was collected directly from the maternity units, using a questionnaire. The data were analyzed using a hospital fixed-effects regression with fetal mortality as the outcome measure. The key independent variables were the introduction of ultrasound and electronic fetal monitoring at each maternity ward. Hospital-specific trends and risk factors of the mother were included as control variables. The richness of the data allowed us to perform several robustness tests. The introduction of ultrasound caused a significant drop in fetal mortality rate, while the introduction of electronic fetal monitoring had no effect on the rate. In the population as a whole, ultrasound contributed to a reduction in fetal deaths of nearly 20 percent. For post-term deliveries, the reduction was well over 50 percent. The introduction of ultrasound made a major contribution to the decline in fetal mortality at the end of the last century. © Health Research and Educational Trust.

  13. Fibromodulin Is Essential for Fetal-Type Scarless Cutaneous Wound Healing.

    Science.gov (United States)

    Zheng, Zhong; Zhang, Xinli; Dang, Catherine; Beanes, Steven; Chang, Grace X; Chen, Yao; Li, Chen-Shuang; Lee, Kevin S; Ting, Kang; Soo, Chia

    2016-11-01

    In contrast to adult and late-gestation fetal skin wounds, which heal with scar, early-gestation fetal skin wounds display a remarkable capacity to heal scarlessly. Although the underlying mechanism of this transition from fetal-type scarless healing to adult-type healing with scar has been actively investigated for decades, in utero restoration of scarless healing in late-gestation fetal wounds has not been reported. In this study, using loss- and gain-of-function rodent fetal wound models, we identified that fibromodulin (Fm) is essential for fetal-type scarless wound healing. In particular, we found that loss of Fm can eliminate the ability of early-gestation fetal rodents to heal without scar. Meanwhile, administration of fibromodulin protein (FM) alone was capable of restoring scarless healing in late-gestation rat fetal wounds, which naturally heal with scar, as characterized by dermal appendage restoration and organized collagen architectures that were virtually indistinguishable from those in age-matched unwounded skin. High Fm levels correlated with decreased transforming growth factor (TGF)-β1 expression and scarless repair, while low Fm levels correlated with increased TGF-β1 expression and scar formation. This study represents the first successful in utero attempt to induce scarless repair in late-gestation fetal wounds by using a single protein, Fm, and highlights the crucial role that the FM-TGF-β1 nexus plays in fetal-type scarless skin repair. Copyright © 2016 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

  14. Fetal movement detection based on QRS amplitude variations in abdominal ECG recordings.

    Science.gov (United States)

    Rooijakkers, M J; de Lau, H; Rabotti, C; Oei, S G; Bergmans, J W M; Mischi, M

    2014-01-01

    Evaluation of fetal motility can give insight in fetal health, as a strong decrease can be seen as a precursor to fetal death. Typically, the assessment of fetal health by fetal movement detection relies on the maternal perception of fetal activity. The percentage of detected movements is strongly subject dependent and with undivided attention of the mother varies between 37% to 88%. Various methods to assist in fetal movement detection exist based on a wide spectrum of measurement techniques. However, these are typically unsuitable for ambulatory or long-term observation. In this paper, a novel method for fetal motion detection is presented based on amplitude and shape changes in the abdominally recorded fetal ECG. The proposed method has a sensitivity and specificity of 0.67 and 0.90, respectively, outperforming alternative fetal ECG-based methods from the literature.

  15. Inter-observer variability in fetal biometric measurements.

    Science.gov (United States)

    Kilani, Rami; Aleyadeh, Wesam; Atieleh, Luay Abu; Al Suleimat, Abdul Mane; Khadra, Maysa; Hawamdeh, Hassan M

    2018-02-01

    To evaluate inter-observer variability and reproducibility of ultrasound measurements for fetal biometric parameters. A prospective cohort study was implemented in two tertiary care hospitals in Amman, Jordan; Prince Hamza Hospital and Albashir Hospital. 192 women with a singleton pregnancy at a gestational age of 18-36 weeks were the participants in the study. Transabdominal scans for fetal biometric parameter measurement were performed on study participants from the period of November 2014 to March 2015. Women who agreed to participate in the study were administered two ultrasound scans for head circumference, abdominal circumference and femur length. The correlation coefficient was calculated. Bland-Altman plots were used to analyze the degree of measurement agreement between observers. Limits of agreement ± 2 SD for the differences in fetal biometry measurements in proportions of the mean of the measurements were derived. Main outcome measures examine the reproducibility of fetal biometric measurements by different observers. High inter-observer inter-class correlation coefficient (ICC) was found for femur length (0.990) and abdominal circumference (0.996) where Bland-Altman plots showed high degrees of agreement. The highest degrees of agreement were noted in the measurement of abdominal circumference followed by head circumference. The lowest degree of agreement was found for femur length measurement. We used a paired-sample t-test and found that the mean difference between duplicate measurements was not significant (P > 0.05). Biometric fetal parameter measurements may be reproducible by different operators in the clinical setting with similar results. Fetal head circumference, abdominal circumference and femur length were highly reproducible. Large organized studies are needed to ensure accurate fetal measurements due to the important clinical implications of inaccurate measurements. Copyright © 2018. Published by Elsevier B.V.

  16. Anti-inflammatory Elafin in human fetal membranes.

    Science.gov (United States)

    Stalberg, Cecilia; Noda, Nathalia; Polettini, Jossimara; Jacobsson, Bo; Menon, Ramkumar

    2017-02-01

    Elafin is a low molecular weight protein with antileukoproteinase, anti-inflammatory, antibacterial and immunomodulating properties. The profile of Elafin in fetal membranes is not well characterized. This study determined the changes in Elafin expression and concentration in human fetal membrane from patients with preterm prelabor rupture of membranes (PPROM) and in vitro in response to intra-amniotic polymicrobial pathogens. Elafin messenger RNA (mRNA) expressions were studied in fetal membranes from PPROM, normal term as well as in normal term not in labor membranes in an organ explant system treated (24 h) with lipopolysaccharide (LPS), using quantitative reverse transcription-polymerase chain reaction (RT-PCR). Enzyme-linked immunosorbent assay (ELISA) measured Elafin concentrations in culture supernatants from tissues treated with LPS and polybacterial combinations of heat-inactivated Mycoplasma hominis (MH), Ureaplasma urealyticum (UU) and Gardnerella vaginalis (GV). Elafin mRNA expression in fetal membranes from women with PPROM was significantly higher compared to women who delivered at term after normal pregnancy (5.09±3.50 vs. 11.71±2.21; Pmembranes showed a significantly increased Elafin m-RNA expression (Pmembranes also showed no changes in Elafin protein concentrations compared to untreated controls. Higher Elafin expression in PPROM fetal membranes suggests a host response to an inflammatory pathology. However, lack of Elafin response to LPS and polymicrobial treatment is indicative of the minimal anti-inflammatory impact of this molecule in fetal membranes.

  17. Ultrasonographic Findings of Fetal Congenital Intracranial Teratoma

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Hak Jong [Seoul National University College of Medicine, Seoul (Korea, Republic of); Lee, Young Ho; Song, Mi Jin; Cho, Jeong Yeon; Min, Jee Yeon; Moon, Min Hwan; Kim, Jeong Ah [Seoul National University Bundang Hospital, Seongnam (Korea, Republic of)

    2005-06-15

    To evaluate the sonographic findings of fetal congenital intracranial teratoma. From 1994 to 2002, of the 11 fetuses which had been diagnosed with fetal intracranial tumors after second level fetal ultrasonography, the six that were confirmed after autopsy as congenital intracranial teratomas were included in our study. The sonographic findings, including size, homogeneity, echogenicity compared with surrounding normal brain tissues, cystic components, and tumor related calcification, were retrospectively evaluated. The incidence of fetal congenital intracranial teratoma out of all fetal intracranial tumors was 54.5% (6 of 11 cases) during the 8-year period. The mean mass size was 7.4 cm (3.0-15.0 cm). Two thirds of (4/6) of the teratoma cases showed high echogenicity compared with normal brain tissues, and two thirds (4/6) showed heterogeneous echogenicity. Four teratoma cases (67%) showed cysts in the mass with a mean size of 1.9cm. One third (2/6) showed calcifications within the tumor. Out of the six cases, two had oropharyngeal teratoma with extension into the intracranial portion (so called epignathus) and showed homogenous mass without any cysts or calcifications. The typical sonographic appearance of intracranial teratoma was a heterogeneous, hyperechoic mass with cysts. In the epignathus cases, the sonographic appearances differed somewhat from the others. An understanding of the sonographic findings of fetal intracranial teratoma will help in the timely counseling of the parents and in obstetric decision making

  18. Agonist mediated fetal muscle-type nicotinic acetylcholine receptor desensitization

    Science.gov (United States)

    The exposure of a developing embryo or fetus to teratogenic alkaloids from plants has the potential to cause developmental defects in livestock due to the inhibition of fetal movement by alkaloids. The mechanism behind the inhibition of fetal movement is the desensitization of fetal muscle-type nico...

  19. Lipopolysaccharide-binding protein as marker of fetal inflammatory response syndrome after preterm premature rupture of membranes.

    Science.gov (United States)

    Pavcnik-Arnol, Maja; Lucovnik, Miha; Kornhauser-Cerar, Lilijana; Premru-Srsen, Tanja; Hojker, Sergej; Derganc, Metka

    2014-01-01

    Intra-amniotic inflammation with preterm premature rupture of membranes (PPROM) is a risk factor for fetal inflammatory response syndrome (FIRS) and adverse neonatal outcome. To evaluate the diagnostic accuracy of lipopolysaccharide-binding protein (LBP) for detecting FIRS in preterm neonates born after PPROM. This was a prospective study in the level III neonatal intensive care unit (42 neonates; 23 + 6 to 31 + 6 weeks' gestation) of mothers with PPROM. Umbilical cord blood concentrations of LBP, C-reactive protein (CRP), interleukin (IL)-6 and white blood cell count with differential were measured at delivery and 24 h after birth. Neonates were classified into FIRS (n = 22) and no FIRS (n = 20) groups according to clinical criteria and IL-6 level (≥17.5 pg/ml). Histological examination of the placenta and umbilical cord was performed. Neurological examination at 12 months' corrected age was performed. Umbilical cord blood concentration of LBP was significantly higher in the FIRS group than in the no FIRS group at delivery (median 21.6 mg/l vs. median 2.3 mg/l; p < 0.0001) and 24 h after birth (median 17.2 mg/l vs. median 20.0 mg/l; p < 0.001). The area under the ROC curve for FIRS at delivery was 0.98 (95% CI 0.88-1.0) for LBP, 0.92 (95% CI 0.80-0.99) for CRP and 0.82 (95% CI 0.64-0.94) for immature to total neutrophil ratio. Similar results were obtained if FIRS was defined by funisitis. Umbilical cord blood concentration of LBP at delivery was significantly higher in neonates with abnormal neurological exam at 12 months than in those with normal exam (median 19.5 mg/l vs. median 3.75 mg/l; p < 0.015). In preterm neonates born to asymptomatic women with PPROM, LBP in cord blood at delivery is an excellent diagnostic biomarker of FIRS/funisitis with prognostic potential. © 2013 S. Karger AG, Basel.

  20. Developmental Programming: Impact of Excess Prenatal Testosterone on Intrauterine Fetal