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Sample records for prenatal diagnosis involves

  1. Prenatal Diagnosis

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    Ozge Ozalp Yuregir

    2012-02-01

    Full Text Available Prenatal diagnosis is the process of determining the health or disease status of the fetus or embryo before birth. The purpose is early detection of diseases and early intervention when required. Prenatal genetic tests comprise of cytogenetic (chromosome assessment and molecular (DNA mutation analysis tests. Prenatal testing enables the early diagnosis of many diseases in risky pregnancies. Furthermore, in the event of a disease, diagnosing prenatally will facilitate the planning of necessary precautions and treatments, both before and after birth. Upon prenatal diagnosis of some diseases, termination of the pregnancy could be possible according to the family's wishes and within the legal frameworks. [Archives Medical Review Journal 2012; 21(1.000: 80-94

  2. Quality aspects of prenatal cytogenetic diagnosis : Determining the effect of various factors involved in handling amniotic fluid and chorionic villus material for cytogenetic diagnosis

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    Sikkema-Raddatz, Birgit; Suijkerbuijk, Ron; Bouman, Katelijne; de Jong, Bauke; Buys, Charles H. C. M.; Meerman, Gerard J. te

    Objectives To investigate the effect of factors involved in cell culturing and slide preparation of amniotic fluid (AF) and chorionic villus biopsies (CVB) for prenatal cytogenetic diagnosis. Methods The effect on the outcome of our standard AF cell culture procedure of volume and appearance of the

  3. Quality aspects of prenatal cytogenetic diagnosis : Determining the effect of various factors involved in handling amniotic fluid and chorionic villus material for cytogenetic diagnosis

    NARCIS (Netherlands)

    Sikkema-Raddatz, Birgit; Suijkerbuijk, Ron; Bouman, Katelijne; de Jong, Bauke; Buys, Charles H. C. M.; Meerman, Gerard J. te

    2006-01-01

    Objectives To investigate the effect of factors involved in cell culturing and slide preparation of amniotic fluid (AF) and chorionic villus biopsies (CVB) for prenatal cytogenetic diagnosis. Methods The effect on the outcome of our standard AF cell culture procedure of volume and appearance of the

  4. Human prenatal diagnosis

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    Filkins, K.; Russo, R.J.

    1985-01-01

    The multiauthor text is written as a ''guide to rationalize and clarify certain aspects of diagnosis, general counseling and intervention'' for ''health professionals who provide care to pregnant women.'' The text is not aimed at the ultrasonographer but rather at the physicians who are clinically responsible for patient management. Chapters of relevance to radiologists include an overview of prenatal screening and counseling, diagnosis of neural tube defects, ultrasonographic (US) scanning of fetal disorders in the first and second trimesters of pregnancy, US scanning in the third trimester, multiple gestation and selective termination, fetal echo and Doppler studies, and fetal therapy. Also included are overviews of virtually all currently utilized prenatal diagnostic techniques including amniocentesis, fetal blood sampling, fetoscopy, recombinant DNA detection of hemoglobinopathies, chorionic villus sampling, embryoscopy, legal issues, and diagnosis of Mendelian disorders by DNA analysis.

  5. Prenatal diagnosis of hemimegalencephaly.

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    Lang, Shih-Shan; Goldberg, Ethan; Zarnow, Deborah; Johnson, Mark P; Storm, Phillip B; Heuer, Gregory G

    2014-01-01

    In recent literature, there have been case reports of prenatal diagnosis of hemimegalencephaly, an extremely rare entity characterized by enlargement of all or portions of 1 cerebral hemisphere and intractable seizures. A unique case is presented of hemimegalencephaly of a fetus diagnosed in utero. A 27-year-old woman presented at 32 weeks' gestation for fetal magnetic resonance imaging after an abnormal fetal ultrasound. Fetal magnetic resonance imaging showed hemimegalencephaly of the left cerebral hemisphere with abnormal gyration. The patient was born via cesarean section at 39 weeks' gestation. He had continuous infantile spasms and partial-onset seizures starting on day 1 of life, and electroencephalography showed burst suppression. The patient's seizures were initially managed with antiepileptics, prednisolone, and a ketogenic diet; however, he was hospitalized multiple times because of status epilepticus. At 6 months of age, he underwent a successful anatomic left hemispherectomy. In utero diagnosis of complex developmental brain anomalies allows a multidisciplinary approach to provide optimal prenatal patient treatment and parental counseling. Copyright © 2014 Elsevier Inc. All rights reserved.

  6. Prenatal diagnosis in multiple pregnancy.

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    Taylor, M J; Fisk, N M

    2000-08-01

    Fetal abnormality is more common in multiple than in singleton pregnancies. This, together with the requirement to consider the risks with at least two babies to sample correctly each fetus and to undertake accurately-targeted selective termination, amounts to a major challenge for obstetricians involved in prenatal diagnosis. Early determination of chorionicity should be routine, since this influences not only the genetic risks but also the invasive procedure chosen for karyotyping or genotyping. Assessment of nuchal translucency identifies individual fetuses at risk of trisomy. Contrary to expectation, invasive procedures in twins appear to have procedure-related miscarriage rates that are similar to those in singletons. Instead, contamination remains a concern at chorionic villus sampling. Elective late karyotyping of fetuses may have a role in some countries. Whereas management options for discordant fetal abnormality are relatively straightforward in dichorionic pregnancies, monochorionic pregnancies are at risk of co-twin sequelae after any single intrauterine death. Techniques have now been developed to occlude completely the cord vasculature by laser and/or ultrasound guided bipolar diathermy. Given the complexities associated with prenatal diagnosis, all invasive procedures in multiple pregnancies should be performed in tertiary referral centres. Copyright 2000 Harcourt Publishers Ltd.

  7. Hemimegalencephaly: prenatal diagnosis and outcome.

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    Alvarez, Rosa María; García-Díaz, Lutgardo; Márquez, Javier; Fajardo, Manuel; Rivas, Eloy; García-Lozano, Juan Carlos; Antiñolo, Guillermo

    2011-01-01

    Hemimegalencephaly (HME) is a developmental abnormality of the central nervous system (CNS) which may present as either a syndromic or isolated case. Here, we present two cases of early prenatal diagnosis of HME. Prenatal CNS ultrasound and MRI in the first case revealed ventricular asymmetry, midline shift with displacement of the occipital lobe across the midline, large dilatation mainly at the posterior horn of the left lateral ventricle, and a head circumference in the 90th percentile without involvement of the brain stem and cerebellum, as well as abdominal lymphangioma. Right hemispherectomy was performed at 3 months of age due to intractable seizures. The pathological specimen showed findings characteristic of HME, including a disorganized cytoarchitecture with lack of neuronal lamination, focal areas of polymicrogyria, and neuronal heterotopias with dysplastic cells. In the second case, 2D and 3D neurosonography demonstrated similar findings (asymmetry of cerebral hemispheres, midline shift, and dilation of the posterior horn of the left lateral cerebral ventricle). Posterior fossa structures were unremarkable. HME was diagnosed and the pregnancy was terminated. Autopsy findings confirmed the diagnosis of HME.

  8. PRENATAL DIAGNOSIS IN ORGANIC ACIDEMIA

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    Hedieh SANEIFARD

    2012-03-01

    Full Text Available Organic acidemias are the group of metabolic disorders which define by high anion gap metabolic acidosis, hypo or hyperglycemia & hyperammonemia.Because of the severity of disease in children and its fatality in severe form of disease and also need for life long treatment, prenatal diagnosis is an important diagnostic tool.Three approaches to prenatal diagnosis may be possible, including measurement of analytes in amniotic fluid or use of cells obtained by Choronic Villus sampling (CVS or amniocentesis to either assay enzyme activity or extract DNA for molecular genetic testing.Biochemical genetic testing: Prenatal diagnosis for pregnancies at increased risk for propionic acidemia, methylmalonic acidemia, biotin-unresponsive3-methylcrotonyl-CoA carboxylase deficiency, glutaric acidemia type 1, ketothiolase deficiency, methylmalonic aciduria and homocystinuria, cblC type, and isovaleric acidemia is possible by analysis of amniotic fluid if highly accurate quantitative methods are used to measure the appropriate analytes. Amniocentesis is usually performed at approximately 15 to 18 weeks gestation.Prenatal diagnosis for pregnancies at increased risk for MSUD is possible by measurement of enzyme activity in fetal cells obtained by chorionic villous sampling(CVS at approximately ten to 12 weeks gestation or amniocentesis usually performed at approximately 15 to 18 weeks gestation.(If cells from CVS are used, extreme care must be taken to assure that they are fetal rather than maternal cells.Molecular genetic testing:Prenatal diagnosis for pregnancies at increased risk for all disorders is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis usually performed at approximately 15 to 18 weeks of gestation or chorionic villous sampling (CVS at approximately ten to 12 weeks of gestation. Both disease-causing allels of an affected family member must be identified before prenatal testing.Preimplantation genetic diagnosis (PGD

  9. Prenatal diagnosis of congenital diseases

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    M.F. Niermeijer (Martinus)

    1975-01-01

    textabstractPrenatal diagnosis of a number of congenital diseases is possible by amniocentesis in the 14th - 16th week of pregnancy and subsequent analysis of cultured amniotic fluid cells or amniotic fluid supernatant. Parents at risk for a child with a chromosomal disorder, an X-linked disease, a

  10. Prenatal Diagnosis of Arachnoid Cysts

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    Chih-Ping Chen

    2007-09-01

    Full Text Available Arachnoid cysts are a rare central nervous system malformation, representing only 1% of all intracranial masses in newborns. Primary (congenital arachnoid cysts are benign accumulation of clear fluid between the dura and the brain substance throughout the cerebrospinal axis in relation to the arachnoid membrane and do not communicate with the subarachnoid space. Secondary (acquired arachnoid cysts result from hemorrhage, trauma, and infection and usually communicate with the subarachnoid space. The common locations of arachnoid cysts are the surface of the brain at the level of main brain fissures, such as sylvian, rolandic and interhemispheric fissures, sella turcica, the anterior cranial fossa, and the middle cranial fossa. Arachnoid cysts may be associated with ventriculomegaly and dysgenesis of corpus callosum. Prenatal ultrasound and magnetic resonance imaging have led to the increased diagnosis of fetal arachnoid cysts. This article provides a thorough review of fetal arachnoid cysts, including prenatal diagnosis, differential diagnosis and associated chromosomal abnormalities, as well as comprehensive illustrations of perinatal imaging findings of fetal arachnoid cysts. Prenatal diagnosis of intracranial hypoechoic lesions should include a differential diagnosis of arachnoid cysts and prompt genetic investigations.

  11. Prenatal diagnosis of cloacal malformation.

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    Peiro, Jose L; Scorletti, Federico; Sbragia, Lourenco

    2016-04-01

    Persistent cloaca malformation is the most severe type of anorectal and urogenital malformation. Decisions concerning the surgical treatment for this condition are taken during the first hours of life and may determine the quality of life of these patients. Thus, prenatal diagnosis becomes important for a prompt and efficient management of the fetus and newborn, and accurate counseling of the parents regarding its consequences and the future of the baby. Careful evaluation by ultrasonography, and further in-depth analysis with MRI, allow prenatal detection of characteristic findings, which can lead to diagnose or at least suspect this condition. We reviewed our experience and the literature in order to highlight the most important clues that can guide the physician in the differential diagnosis. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Prenatal Diagnosis of WAGR Syndrome

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    Berrin Tezcan

    2015-01-01

    Full Text Available Wilm’s tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genotypic defects in WAGR syndrome have been well established. However, antenatal ultrasonographic presentation of this syndrome has never been reported. Prenatal diagnosis of this condition is possible in some cases with careful ultrasound examination of classical and nonclassical manifestations of this syndrome. The key point for this rare diagnosis was the decision to perform chromosomal microarray analysis after antenatal diagnosis of absent corpus callosum and absent cavum septum pellucidum, as this finding mandates search for potentially associated genetic disorders. We report a case of WAGR syndrome diagnosed prenatally at 29-week gestation. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound as well as fetal MRI scan and microarray analysis. The ultrasonographic findings included borderline ventriculomegaly, absent corpus callosum, and absent cavum septum pellucidum. Cytogenetic results from the amniotic fluid confirmed WAGR syndrome. Parental karyotype was normal, with no evidence of copy number change, deletion, or rearrangement of this region of chromosome 11.

  13. Pai syndrome: challenging prenatal diagnosis and management

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    Blouet, Marie [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); University of Lower Normandie, Caen (France); Belloy, Frederique [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); Jeanne-Pasquier, Corinne [Centre Hospitalier Universitaire de Caen, Department of Pathology, Caen (France); Leporrier, Nathalie [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire de Caen, Department of Genetics, Caen (France); Benoist, Guillaume [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire, Pole Femmes-Enfants, Department of Obstetrics and Gynecology, Caen (France)

    2014-09-15

    Pai syndrome is a rare disorder that includes midline cleft lip, pericallosal lipoma and cutaneous polyp of the face. We report a case of prenatal diagnosis using sonography and MRI. We emphasize the importance of facial examination with prenatal association of midline cleft lip and pericallosal lipoma in making the diagnosis of Pai syndrome. (orig.)

  14. Prenatal Diagnosis of Congenital Dermal Sinus

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    Sharif Sakr

    2015-04-01

    Full Text Available Background - Congenital dermal sinus (CDS is an uncommon form of spinal dysraphism. Although postdelivery identification in the neonate is aided by several associated physical examination findings, establishing this diagnosis prenatally has proven to be elusive. Case Report - We present a case of CDS where the prenatal findings at 20 weeks gestation led to the diagnosis, which was confirmed postnatally. The associated protrusion of fibrotic membranes through the sinus tract helped in the identification of this lesion prenatally, but created confusion with a more common type of lesion, an open neural tube defect. This is the first case report in the literature describing prenatal diagnosis of fetal CDS. Conclusion - Prenatal diagnosis with postnatal confirmation of CDS leads to early intervention, better long-term outcomes, and lesser complications.

  15. Prenatal diagnosis of lissencephaly: A case report

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    Cerovac Nataša

    2016-01-01

    Full Text Available Introduction. Lissencephaly (“smooth brain” forms a major group of brain malformations due to abnormal neuronal migration. It can cause severe intellectual and motor disability and epilepsy in children. The prenatal diagnosis of this malformation is rare. Case report. We presented a case of the prenatal diagnosis of lissencephaly. A 30-year old pregnant woman was reffered to the hospital at the week 35 of gestation for magnetic resonance imaging (MRI after an ultrasound examination demonstrated fetal cerebral ventriculomegaly. Fetal MRI of the brain showed “smooth”, agyrya cortex. The female infant was born at term with birth weight of 2,500 g and Apgar score 8, showing global developmental delay. Postnatal ultrasound and MRI confirmed classical lissencephaly. She is now 8 years old and has spastic quadriparesis, mental retardation and epilepsy. Conclusion. Confirmation of the ultrasound diagnosis with MRI is desirable for the prenatal diagnosis of lissencephaly.

  16. Prenatal diagnosis of 45,X/46,XX

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    Hsu, L.Y.F. [New York Univ. School of Medicine, New York, NY (United States)

    1996-03-01

    I read with great interest the paper on {open_quotes}Prenatal Diagnosis of 45,X/46,XX mosaicism and 45,X: Implications for Postnatal Outcome{close_quotes} by Koeberl et al. They reported their experience with 12 prenatally diagnosed cases of 45,X/46,XX mosaicism and made a clinical comparison between those 12 cases and their own 41 postnatally diagnosed cases of 45,X/46,XX mosaicism. As expected, they found an overall milder phenotypic manifestation in the prenatal cases than in the postnatal ones. These authors report a lack of previous prognostic information on this type of prenatally diagnosis of mosaicism and offer their findings to fill this need. However, considerable information on this topic has been published. There have been >200 prenatally diagnosed cases of 45,X/46,XX. According to my data on 189 cases with a prenatal diagnosis of 45,X/46,XX mosaicism (Hsu 1992), there are 114 cases with available information on phenotypic outcome. Of these, 12 (10.5%) were reported to have some features of Turner syndrome, 4 had other anomalies probably not related to Turner syndrome, and 2 resulted in stillbirth. The overall rate for an abnormal phenotype in this category was thus 16/114 (14.03%). However, we must realize that, even in patients with a nonmosaic 45,X complement, the major features of Turner syndrome, such as short stature and sexual infantilism, are manifested only later in childhood or in adolescence. 3 refs.

  17. Prenatal screening and prenatal diagnosis: contemporary practices in light of the past.

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    Iltis, Ana S

    2016-06-01

    The 20th century eugenics movement in the USA and contemporary practices involving prenatal screening (PNS), prenatal diagnosis (PND), abortion and preimplantation genetic diagnosis (PGD) share important morally relevant similarities. I summarise some features of the 20th century eugenics movement; describe the contemporary standard of care in the USA regarding PNS, PND, abortion and PGD; and demonstrate that the 'old eugenics' the contemporary standard of care share the underlying view that social resources should be invested to prevent the birth of people with certain characteristics. This comparison makes evident the difficulty of crafting moral arguments that treat some uses of PNS, PND, abortion and PGD as licit and others as illicit.

  18. Prenatal diagnosis of 47,XXX.

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    Khoury-Collado, Fady; Wehbeh, Ammar N; Fisher, Allan J; Bombard, Allan T; Weiner, Zeev

    2005-05-01

    We report 2 cases of 47,XXX that were diagnosed prenatally and were screened positive for trisomy 21 by biochemical and ultrasound markers. These cases underline the importance of discussing the sex chromosome abnormalities during the genetic counseling after an abnormal triple screen test or ultrasound examination.

  19. Prenatal diagnosis of arachnoid cyst

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    Korkut Daglar

    2016-12-01

    Full Text Available Arachnoid cysts are rare, usually benign, space-occupying central nervous system lesion. They are the results of an accumulation of cerebrospinal-like fluid between the cerebral meninges and diagnosed prenatally as a unilocular, simple, echolucent area within the fetal head. They may be primary (congenital (maldevelopment of the meninges or secondary (acquired (result of infection trauma, or hemorrhage. The primary ones typically dont communicate with the subarachnoid space whereas acquired forms usually communicate. In recent years, with the development of radiological techniques, the clinical detectability of arachnoid cysts seems to have increased. We report a case of primary arachnoid cyst that were diagnosed prenatally by using ultrasonography and magnetic resonance imaging . [Cukurova Med J 2016; 41(4.000: 792-795

  20. Callosal agenesis followed postnatally after prenatal diagnosis.

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    Imataka, George; Nakagawa, Eiji; Kuwashima, Shigeko; Watanabe, Hiroshi; Yamanouchi, Hideo; Arisaka, Osamu

    2006-09-01

    Callosal agenesis is a congenital brain anomaly caused by embryonal hypogenesis of the corpus callosum. Concerning the neurological prognosis, epilepsy and motor disturbance are noted in some cases, while many cases are asymptomatic and the prognosis is good. We report a fetus tentatively diagnosed with hydrocephaly on prenatal echo-encephalography, which was performed without adequate explanation to and understanding of the parents. The parents had not expected an abnormality before the screening, and were subsequently not psychologically prepared for the discovery of the congenital brain anomaly on imaging. Moreover, they received no guidance on how to deal with any possible abnormalities. The pregnant mother was referred to our hospital. Prenatal MRI was performed after informed consent was obtained, and the fetus was diagnosed with callosal agenesis. The patient was followed for 5 years, and neurological development was normal. However, the parents have remained anxious while raising the child. Thus, the prenatal diagnosis of callosal agenesis in this case caused unnecessary mental burden to the parents. Here, we report the course of the case, and discuss the way prenatal ultrasonography should be used as a prenatal screening method, and the importance of counseling before the test.

  1. Prenatal diagnosis of hemoglobinopathies: from fetoscopy to coelocentesis

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    Gianfranca Damiani

    2014-09-01

    Full Text Available Prenatal diagnosis of hemoglobinopathies involves the study of fetal material from blood, amniocytes, trophoblast coelomatic cells and fetal DNA in maternal circulation. Its first application dates back to the 70s and it involves globin chain synthesis analysis on fetal blood. In the 1980s molecular analysis was introduced as well as amniocentesis and chorionic villi sampling under high-resolution ultrasound imaging. The application of direct sequencing and polymerase chain reactionbased methodologies improved the DNA analysis procedures and reduced the sampling age for invasive prenatal diagnosis from 18 to 16- 11 weeks allowing fetal genotyping within the first trimester of pregnancy. In the last years, fetal material obtained at 7-8 weeks of gestation by coelocentesis and isolation of fetal cells has provided new platforms on which to develop diagnostic capabilities while non-invasive technologies using fetal DNA in maternal circulation are starting to develop.

  2. Chromosomal microarray versus karyotyping for prenatal diagnosis.

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    Wapner, Ronald J; Martin, Christa Lese; Levy, Brynn; Ballif, Blake C; Eng, Christine M; Zachary, Julia M; Savage, Melissa; Platt, Lawrence D; Saltzman, Daniel; Grobman, William A; Klugman, Susan; Scholl, Thomas; Simpson, Joe Leigh; McCall, Kimberly; Aggarwal, Vimla S; Bunke, Brian; Nahum, Odelia; Patel, Ankita; Lamb, Allen N; Thom, Elizabeth A; Beaudet, Arthur L; Ledbetter, David H; Shaffer, Lisa G; Jackson, Laird

    2012-12-06

    Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis. Samples from women undergoing prenatal diagnosis at 29 centers were sent to a central karyotyping laboratory. Each sample was split in two; standard karyotyping was performed on one portion and the other was sent to one of four laboratories for chromosomal microarray. We enrolled a total of 4406 women. Indications for prenatal diagnosis were advanced maternal age (46.6%), abnormal result on Down's syndrome screening (18.8%), structural anomalies on ultrasonography (25.2%), and other indications (9.4%). In 4340 (98.8%) of the fetal samples, microarray analysis was successful; 87.9% of samples could be used without tissue culture. Microarray analysis of the 4282 nonmosaic samples identified all the aneuploidies and unbalanced rearrangements identified on karyotyping but did not identify balanced translocations and fetal triploidy. In samples with a normal karyotype, microarray analysis revealed clinically relevant deletions or duplications in 6.0% with a structural anomaly and in 1.7% of those whose indications were advanced maternal age or positive screening results. In the context of prenatal diagnostic testing, chromosomal microarray analysis identified additional, clinically significant cytogenetic information as compared with karyotyping and was equally efficacious in identifying aneuploidies and unbalanced rearrangements but did not identify balanced translocations and triploidies. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT01279733.).

  3. [Prenatal diagnosis. Review, personal and prospective studies].

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    Engel, E; Empson, J; DeLozier, D; McGee, B; da Costa Woodson, E; Engel-de Montmollin, M; Carter, T; Lorber, C; Cassidy, S B; Millis, J; Heller, R M; Boehm, F; Vanhooydonk, J

    1979-07-07

    1. In a review of methods developed for the identification of fetal malformations, the technique, risks and results of amniocentesis are presented. 2. Large series already published have demonstrated the relative simplicity and feasibility of the procedure as well as current indications for its utilization. These include the detection of chromosomal anomalies, the determination of sex (in certain sex-linked disorders), documentation of enzymatic and metabolic deficiencies, and the demonstration of open lesions of the neural tube by appropriate techniques. 3. Experience with over 500 cases personally tested by the authors entirely confirms the major indications for and benefits of this modern method for the detection and prevention of severe congenital anomalies during early pregnancy. 4. The identification of chromosomal alterations is currently the major objective of the method. Increased risks are associated with pregnancies involving a maternal age of 35 years or older (which account for 1-3% of aneuploidies), the birth of a previous infant with free trisomy 21 (1% recurrence risk) or secondary to a parental chromosome translocation (as much as 10% risk of aneuploidy). Fetal karyotyping for determination of sex, in cases where the mother is a carrier of an X-linked recessive gene (on average, 50% of male offspring will be affected), is an inadequate method of diagnosis to be utilized only until alternative techniques render possible specific diagnosis of the anomalies under consideration (hemophilias A and B, muscular dystrophy, etc). 5. Several of these techniques are now nearing development through the advent of fetoscopy and advanced ultrasound methodology, and have already been applied to the detection of certain sex-linked disorders and also for diagnosis of hemoglobinopathies (thalassemias, sickel cell anemia) and other conditions requiring the obtaining of fetal blood for diagnosis. Technology allowing direct examination of fetal parts by means of optical

  4. Confirmation of prenatal diagnosis of sex chromosome mosaicism.

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    McFadden, D E; Kalousek, D K

    1989-04-01

    Prenatal diagnosis of mosaicism causes problems in interpretation and in genetic counselling. Part of the difficulty with any prenatal diagnosis of mosaicism is interpretation of results without knowing the exact origin, embryonic or extraembryonic, of the abnormal cell line. To confuse the issue in cases of prenatal diagnosis of 45,X/46,XY mosaicism is the recent demonstration that a diagnosis of 45,X/46,XY made prenatally is not necessarily associated with the same phenotype as when diagnosed postnatally. We present two cases of prenatal diagnosis of sex chromosome mosaicism (45,X/46,XY and 45,X/47,XYY). Posttermination examination of the phenotypically normal male fetuses and their placentas established that the placenta was the most likely source of the 45,X cell line. An approach to confirming the prenatal diagnosis of sex chromosome mosaicism and establishing its origin utilizing detailed cytogenetic examination of both fetus and placenta is suggested.

  5. Dyssegmental dysplasia in siblings: Prenatal ultrasonic diagnosis

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    Andersen, P.E. Jr.; Hauge, M.; Bang, J.

    1988-01-01

    Two cases of dyssegmental dysplasia (type Silverman-Handmaker) in siblings are presented. The first-born died at the age of 3 months and the second fetus was followed during pregnancy with ultrasound examinations. In the 20th week of gestation marked shortening of the extremities was found; a female infant showing the same radiologic bony malformations as the firstborn was born by cesarean section. These cases support the autosomal recessive inheritance and demonstrate the possibility of prenatal diagnosis in this type of micromelic dwarfism. (orig.)

  6. Mesenchymal hamartoma: prenatal diagnosis by MRI

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    Chu, Leysia [The Hospital for Sick Children, Department of Diagnostic Imaging, Toronto (Canada); Seed, Mike [The Hospital for Sick Children, Division of Cardiology, Department of Paediatrics, Toronto (Canada); Howse, Erica; Ryan, Greg [University of Toronto, Fetal Medicine Unit, Mount Sinai Hospital, Toronto (Canada); Grosse-Wortmann, Lars [The Hospital for Sick Children, Department of Diagnostic Imaging, Toronto (Canada); The Hospital for Sick Children, Division of Cardiology, Department of Paediatrics, Toronto (Canada)

    2011-06-15

    The clinical presentation of thoracic mesenchymal hamartomas varies from an asymptomatic chest wall mass to severe respiratory distress resulting from compression of the airways and lungs. We present the findings on fetal US and MRI of a histologically confirmed case. Following surgical resection, pathological examination corresponded to the cross-sectional imaging features with haemorrhagic, cystic and calcified components. An awareness of the characteristic imaging findings will allow accurate diagnosis of this condition, even prenatally, and thus facilitate appropriate perinatal management and surgical planning. (orig.)

  7. Prenatal Diagnosis of Non-Syndromic Congenital Heart Defects

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    Ailes, Elizabeth C.; Gilboa, Suzanne M.; Riehle-Colarusso, Tiffany; Johnson, Candice Y.; Hobbs, Charlotte A.; Correa, Adolfo; Honein, Margaret A.

    2015-01-01

    Objectives Congenital heart defects (CHDs) occur in nearly 1% of live births. We sought to assess factors associated with prenatal CHD diagnosis in the National Birth Defects Prevention Study (NBDPS). Methods We analyzed data from mothers with CHD-affected pregnancies from 1998–2005. Prenatal CHD diagnosis was defined as affirmative responses to questions about abnormal prenatal ultrasounds and/or fetal echocardiography obtained during a structured telephone interview. Results Fifteen percent (1,097/7,299) of women with CHD-affected pregnancies (excluding recognized syndromes and single-gene disorders) reported receiving a prenatal CHD diagnosis. Prenatal CHD diagnosis was positively associated with advanced maternal age, family history of CHD, type 1 or type 2 diabetes, twin or higher order gestation, CHD complexity and presence of extracardiac defects. Prenatal CHD diagnosis was inversely associated with maternal Hispanic race/ethnicity, prepregnancy overweight or obesity, and pre-existing hypertension. Prenatal CHD diagnosis varied by time to NBDPS interview and NBDPS study site. Conclusions Further work is warranted to identify reasons for the observed variability in maternal reports of prenatal CHD diagnosis and the extent to which differences in health literacy or health system factors such as access to specialized prenatal care and/or fetal echocardiography may account for such variability. PMID:24222433

  8. Prenatal Sonographic Diagnosis of Acardiac Twins

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    Kim, Jeong Ah; Song, Mi Jin [Cheil General Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2006-09-15

    This study was performed to present the prenatal sonographic findings and the associated abnormalities of acardiac twins. Seven cases of acardiac twins were reviewed retrospectively. Prenatal ultrasonography was performed in all patients at a gestational age between 12 and 27 weeks (mean 17.6 weeks). Autopsy was performed in four cases. The sonographic and autopsy findings were reviewed to report the associated abnormalities of the acardiac and donor fetuses. The diagnosis of acardiac twins was made on the basis of ultrasonography (n=6) or autopsy (n=1). The associated abnormalities of the acardiac fetuses were single umbilical artery (SUA) (n=5), abdominal wall defect (n=4), club feet (n=4), scoliosis (n=1), cleft lip and palate (n=1), digital anomaly (n=1), and umbilical cord cyst (n=1). In four of the donor fetuses, sonographic abnormalities were found. Autopsy was performed in three of the four cases to reveal hydropic change (n=2), diaphragmatic hernia (n=1) and multiple structural abnormalities of interventricular septal defect, polydactyly, club feet and SUA (n=1). Intrauterine fetal death occurred in five donors and follow-up was lost in the remaining two. Meticulous sonography enables the diagnosis of acardiac twins at an early gestational age and can reveal the associated abnormalities of the donor fetus as well as the acardiac fetus

  9. Prenatal diagnosis of cyclopia associated to trisomy 13.

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    Harry Pachajoa

    2009-11-01

    Full Text Available A cyclopia case with prenatal diagnosis by two dimensional and three dimensional ecography is presented, chordocentesis was realized, the chariotype in fetal blood with G banding presented trisomy 13. Phenotypic characteristics prenatally found where confirmed with the physical examination of the newborn. A revision to the literature about cyclops associated with trisomy 13 was made, and important aspects in prenatal diagnosis were highlighted.

  10. Prenatal diagnosis in women of advanced maternal age

    NARCIS (Netherlands)

    H. Brandenburg (Helen)

    1992-01-01

    textabstractIn this thesis several aspects of prenatal diagnosis in women of advanced maternal age were studied. The effects of the increasing number of elderly gravidas. the lowering of the maternal age at which prenatal diagnosis became accessible and the introduction of chorionic villus sampling,

  11. Mosaicism and uniparental disomy in prenatal diagnosis.

    Science.gov (United States)

    Eggermann, Thomas; Soellner, Lukas; Buiting, Karin; Kotzot, Dieter

    2015-02-01

    Chromosomal mosaicism is the presence of numerous cell lines with different chromosomal complements in the same individual. Uniparental disomy (UPD) is the inheritance of two homologous chromosomes from the same parent. These genetic anomalies arise from errors in meiosis and/or mitosis and can occur independently or in combination. Due to the formation mechanisms of UPD, low-level or undetected mosaicisms are assumed for a significant number of UPD cases. The pre- and postnatal clinical consequences of mosaicism for chromosomal aberrations and/or UPD depend on the gene content of the involved chromosome. In prenatal evaluation of chromosomal mosaicism and UPD, genetic counseling should be offered before any laboratory testing.

  12. Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome.

    Science.gov (United States)

    Spaggiari, Emmanuel; Aboura, Azzedine; Sinico, Martine; Mabboux, Philippe; Dupont, Céline; Delezoide, Anne-Lise; Guimiot, Fabien

    2012-01-01

    Saethre-Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed prenatally. It is caused by cytogenetic deletions or mutations of the TWIST1 gene. We report here a de novo prenatal case with clinically and molecularly well defined Saethre-Chotzen syndrome due to a TWIST1 deletion. This is the first reported case of a deletion encompassing the TWIST1 gene to be diagnosed prenatally. We recommend screening for a deletion of the TWIST1 gene if signs of coronal craniosynostosis with no clear etiology are observed on ultrasound examination.

  13. [Huntington disease: presymptomatic testing, prenatal diagnosis, preimplantation genetic diagnosis experience].

    Science.gov (United States)

    Durr, A; Viville, S

    2007-10-01

    Presymptomatic testing for Huntington disease has been available for 15 years. The possibility of determining the genetic status of an at-risk person for the disorder which runs in his or her family raises questions because of the absence of preventive treatments. In addition, being carrier does not allow to determine when the disease starts and how it will evolve, impairing the possibilities of planning the future. A pluridisciplinary approach to predictive testing with care before, during and after the test taking into account the medical, social and psychological aspects of the disease is good practice. At the present time, only a minority of at-risk individuals request presymptomatic testing and almost 50% do not pursue until the results. The consequences of the test may be harmful, more frequently after an unfavorable than after a favorable result. Motivations and the outcome in terms of request for prenatal testing after a carrier result are known today and the number or prenatal testing remains very limited. Preimplantation genetic testing is an alternative for couples who knows or do not their own genetic status. We report our experience in two French centres: Paris for presymptomatic and prenatal testing and Strasbourg for preimplantation diagnosis.

  14. Prenatal diagnosis of common single gene disorders by DNA technology

    OpenAIRE

    1997-01-01

    Using the new DNA technology, it is now possible to offer prenatal diagnosis or presymptomatic testing for many genetic diseases. For prenatal diagnosis, foetal tissue is obtained y chorionic villus sampling at 9 to 11 weeks gestation or amniocentesis at 18 weeks. The programme in Hong Kong, which started in 1982, is reviewed here and now included alpha and beta thalassaemia, haemophilia A and B, Duchenne muscular dystrophy, Huntington's diseases, and spinal muscular atrophy. DNA diagnosis ca...

  15. [Toxoplasmosis in pregnancy: prevention, prenatal diagnosis and treatment].

    Science.gov (United States)

    Hohlfeld, P; Biedermann, K; Extermann, P; Gyr, T

    1995-01-01

    Maternal infection with Toxoplasma gondii acquired during pregnancy occurs in more than 500 women per year in Switzerland. Systematic screening at the beginning of pregnancy allows the introduction of health education programs. The screening during pregnancy is performed to diagnose primary maternal infections and to propose prenatal diagnosis and treatment. The administration of specific antibiotherapy during pregnancy (spiramycine or the association of pyrimethamine and sulfonamides) significantly reduces the risk of fetal infection. Prenatal diagnosis of congenital toxoplasmosis is possible and reliable. It avoids unnecessary termination of pregnancy when the fetus is not infected and specific therapy in case of infection (association of pyrimethamine and sulfonamides). Prenatal treatment may be proposed without prenatal diagnosis as of the 16th week of gestation. In any case, prenatal treatment seems to reduce the incidence of severe congenital toxoplasmosis.

  16. Prenatal sonographic diagnosis of Aarskog syndrome.

    Science.gov (United States)

    Sepulveda, W; Dezerega, V; Horvath, E; Aracena, M

    1999-10-01

    In 1970, Aarskog described a rare X-linked developmental disorder characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia (faciodigitogenital syndrome). The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak hair anomaly, and ocular and ear anomalies. Limb abnormalities consist of short broad hands, brachydactyly, interdigital webbing, hypoplasia of the middle phalanges, proximal interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints, and flat broad feet with bulbous toes. Genital anomalies are characteristics and include shawl scrotum, cryptorchidism, and inguinal hernia. Most affected patients have normal intelligence, but some authors have noted mild neurodevelopmental delay in up to 30% of the cases. We describe a case of Aarskog syndrome diagnosed prenatally by sonography at 28 weeks' gestation in a high-risk pregnancy for this disorder.

  17. Prenatal diagnosis and management in fetuses with cystic hygromata colli.

    Science.gov (United States)

    Gembruch, U; Hansmann, M; Bald, R; Zerres, K; Schwanitz, G; Födisch, H J

    1988-12-01

    We report on 45 fetuses with prenatally diagnosed bilateral cystic hygromata colli by ultrasound. Two of the 45 cases involved a twin pregnancy with only one fetus showing hygromata colli. In 2 cases there was only isolated hygromata colli. The other 43 cases showed the signs of non-immune hydrops fetalis. The cytogenetic findings were: 9 fetuses with Turner syndrome, 1 fetus with Turner mosaicism, 1 fetus with trisomy 18, 6 fetuses with trisomy 21, 12 fetuses with normal karyotype, and 16 fetuses with a failed chromosome culture. In fetuses with Turner syndrome and normal karyotype the sonographic findings were similar: massive bilateral hygromata colli, substantial fluid accumulations in skin and body cavities, oligohydramnios and intra-uterine growth retardation. In the cases with trisomy 21, the relative size of the hygromata colli was smaller. Intra-uterine growth retardation and oligohydramnios were not observed. The sole survivor of our group (elective pregnancy interruption: 30 cases; intra-uterine death: 14 cases) (karyotype: 46,XY) presented sonographically with massive ascites, a moderate cystic hygroma, and appropriate fetal development, and a normal amniotic fluid quantity. These findings are analysed in order to provide recommendations for prenatal diagnosis, prenatal management and genetic counselling of the couples concerned.

  18. Prenatal diagnosis of a fetus with anencephaly and thumb agenesis.

    Science.gov (United States)

    Barone, Chiara; Bartoloni, Giovanni; Cataliotti, Antonella; Indaco, Lara; Pappalardo, Elisa; Barrano, Barbara; Ettore, Giuseppe; Bianca, Sebastiano

    2012-03-01

    Severe anomalies of the forebrain together with reduction limb anomalies are a rare congenital anomalies association. We report a prenatal diagnosis of acalvaria, anencephaly and thumb agenesis in a voluntary terminated fetus and discuss the role of genetic counseling.

  19. Sirenomelia: Case Report and Discussion of its Prenatal Diagnosis

    African Journals Online (AJOL)

    KEY WORDS: Diabetes mellitus, dysmorphic lower limb, prenatal diagnosis, sirenomelia ... get any routine investigation done. ... study. In view of a congenitally anomalous fetus, tocolysis was not given and ... associated genetic predisposition.

  20. [Rare case of bilateral pulmonary agenesis and prenatal diagnosis].

    Science.gov (United States)

    Veluppillai, C; Jossic, F; Quéré, M-P; Philippe, H-J; Le Vaillant, C

    2014-01-01

    Bilateral pulmonary agenesis (BPA) is a rare congenital lung malformation. The prognosis is severe as it is incompatible with extra-uterine life. Although multiple prenatal imaging modalities are developed, the prenatal diagnosis of BPA remains problematic. We report a case of BPA observed in our unity and for which the diagnosis was not clearly identified during the evaluation. This report illustrates the need to consider all the imaging aspects and particularly during US examination suspecting BPA.

  1. Results and Pitfalls in Prenatal Cytogenetic Diagnosis

    Science.gov (United States)

    Hsu, Lillian Y. F.; Dubin, Elyse C.; Kerenyi, Thomas; Hirschhorn, Kurt

    1973-01-01

    Since 1969, we have cultured over 200 diagnostic amniotic fluids. Of these, 183 were for cytogenetic diagnosis. The chromosome analysis was successful in 168 cases. The indications and the results of the affected fetuses (followed by therapeutic abortion) are: (1) previous child with Down's syndrome: 62 cases (1:47,XX,+21); (2) advanced maternal age: 54 cases (1:47,XXY; 1:45,X/46,XY mosaicism; 1:47,+18); (3) previous child with multiple anomalies: 12 cases; (4) previous child with 47,XY,+18 or 47,+13: five cases; (5) translocation carrier: two cases; (6) parental mosaicism: three cases; (7) X-linked disorders: six cases (3:XY); (8) others: 24 cases. We have found firstly, that for prenatal sex determination, karyotype analysis of the cultured amniotic fluid cells is the only accurate means and that caution must be taken if sex chromatin and Y-fluorescent body determination from the uncultured amniotic fluid cells is used. Secondly, that diagnosis of chromosomal mosaicism can be problematic as exemplified by our case of 45,X/46,XY mosaicism, where only 45,X cells were recovered from the first culture. Thirdly, that in cases with enlarged satellites, cells of late prophase or early metaphase must be used to eliminate confusion with translocations. We encountered three cases of enlarged satellites—one in the D group and two in the G group—and all three resulted in normal infants. Fourthly, that the karyotype may be altered by contamination and/or treatment or other unknown factors. We have observed two such cases where each mother delivered a normal infant. Images PMID:4268389

  2. Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome

    Directory of Open Access Journals (Sweden)

    Lutgardo García-Díaz

    2013-01-01

    Full Text Available A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department at 37 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed biventricular hypertrophy and pericardial effusion, without additional abnormalities. Postnatal echocardiography confirmed prenatal diagnosis. Neonatal EKG showed biventricular hypertrophy and Wolff-Parkinson-White syndrome. Skeletal muscle biopsy was consistent with mitochondrial oxidative phosphorylation defect involving a combined defect of respiratory complexes I and IV. Echocardiographic followup during the first year of life showed progressive regression of hypertrophy and evolution to left ventricular myocardial noncompaction.

  3. Ultrasound prenatal diagnosis of congenital primary aphakia: case report

    Science.gov (United States)

    Di Meglio, Filippo; Vascone, Carmine; Di Meglio, Letizia; Turco, Luigi Carlo Lo; Vitale, Salvatore Giovanni; Cignini, Pietro; Valenti, Gaetano; Gulino, Ferdinando Antonio; Rapisarda, Agnese Maria Chiara; Cianci, Stefano

    2015-01-01

    Introduction the ultrasound prenatal diagnosis of aphakia is a difficult diagnosis and often requires a genetic study of the karyotype. Case report we present a rare case of prenatal bilateral aphakia, confirmed after bird. The patient was observed by ultrasound during the 23rd week of pregnancy. Through transabdominal ultrasound the lens could not be visualized bilaterally. The remaining anathomy, explorable by ultrasound, was still regular. When aphakia is suspected, genetic counseling is essential. Conclusion a differential diagnosis between aphakia and anophtalmia is necessary. A TORCH complex evaluation can be useful. Amniocentesis is always required. PMID:26918094

  4. Genetic Considerations in the Prenatal Diagnosis of Overgrowth Syndromes

    Science.gov (United States)

    Vora, Neeta; Bianchi, Diana W.

    2015-01-01

    Large (>90%) for gestational age (LGA) fetuses are usually identified incidentally. Detection of the LGA fetus should first prompt the provider to rule out incorrect dates and maternal diabetes. Once this is done, consideration should be given to certain overgrowth syndromes, especially if anomalies are present. The overgrowth syndromes have significant clinical and molecular overlap, and are associated with developmental delay, tumors, and other anomalies. Although genetic causes of overgrowth are considered postnatally, they are infrequently diagnosed prenatally. Here, we review prenatal sonographic findings in fetal overgrowth syndromes, including Pallister-Killian, Beckwith-Wiedemann, Sotos, Perlman, and Simpson-Golabi-Behmel. We also discuss prenatal diagnosis options and recurrence risks. PMID:19609940

  5. Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.

    Science.gov (United States)

    Victorine, Anna S; Weida, Jennifer; Hines, Karrie A; Robinson, Barrett; Torres-Martinez, Wilfredo; Weaver, David D

    2014-03-01

    Carpenter syndrome is an autosomal recessive disorder comprising craniosynostosis, polysyndactyly, and brachydactyly. It occurs in approximately 1 birth per million. We present a patient with Carpenter syndrome (confirmed by molecular diagnosis) who has several unique and previously unreported manifestations including a large ovarian cyst and heterotaxy with malrotation of stomach, intestine, and liver. These findings were first noted by prenatal ultrasound and may assist in prenatally diagnosing additional cases of Carpenter syndrome.

  6. review of chorionic villus sampling in prenatal diagnosis

    African Journals Online (AJOL)

    countries, chorionic villus sampling is the procedure of choice for prenatal diagnosis with the principal advantage over others, ... these technological advances and facilitated an easier diagnosis .... CVS is a surgical procedure with both surgical and laboratory ... easy by the combined effect of xylocaine infiltration and verbal.

  7. Structural chromosomal anomalies detected by prenatal genetic diagnosis: our experience.

    Science.gov (United States)

    Farcaş, Simona; Crişan, C D; Andreescu, Nicoleta; Stoian, Monica; Motoc, A G M

    2013-01-01

    The prenatal diagnosis is currently widely spread and facilitates the acquiring of important genetic information about the fetus by a rate extremely accelerate and considered without precedent. In this paper, we like to present our experience concerning the genetic diagnosis and counseling offered for pregnancies in which a structural chromosomal aberration was found. The study group is formed by 528 prenatal samples of amniotic fluid and chorionic villi, received by our laboratory from 2006 through October 2012 for cytogenetic diagnosis. The appropriate genetic investigation was selected based on the indications for prenatal diagnosis. The cases with structural chromosomal anomalies and polymorphic variants were analyzed as regard to the maternal age, gestational age, referral indications and type of chromosomal anomaly found. A total number of 21 structural chromosomal anomalies and polymorphic variants were identified in the study group. Out of 21 structural chromosomal anomalies and polymorphic variants, six deletions and microdeletions, four situations with abnormal long "p" arm of acrocentric chromosomes, two duplications, two reciprocal translocations, two inversions, two additions, one Robertsonian translocation associating trisomy 13, one 9q heteromorphism and one complex chromosome rearrangement were noticed. To the best of our knowledge, this is the first Romanian study in which the diagnostic strategies and the management of the prenatal cases with structural rearrangements are presented. The data provided about the diagnosis strategy and the management of the prenatal cases with structural chromosomal anomalies represents a useful tool in genetic counseling of pregnancies diagnosed with rare structural chromosomal anomalies.

  8. Prenatal Diagnosis, Fetal Surgery, Recurrence Risk and Differential Diagnosis of Neural Tube Defects

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2008-09-01

    Full Text Available Prenatal screening with α-fetoprotein (AFP and ultrasonography have allowed the prenatal diagnosis of neural tube defects (NTDs in current obstetric care, and open spina bifida has been considered a potential candidate for in utero treatment in modern pediatric surgery. This article provides an overview of maternal serum AFP screening, amniotic fluid AFP assays, amniotic fluid acetylcholinesterase immunoassays and level II ultrasound for NTDs, prenatal repair of fetal myelomeningocele, recurrence risk of NTDs, and differential diagnosis of NTDs on prenatal ultrasound.

  9. Prenatal diagnosis of cystic fibrosis: 10-years experience.

    Science.gov (United States)

    Hadj Fredj, S; Ouali, F; Siala, H; Bibi, A; Othmani, R; Dakhlaoui, B; Zouari, F; Messaoud, T

    2015-06-01

    We present in this study our 10years experience in prenatal diagnosis of cystic fibrosis performed in the Tunisian population. Based on family history, 40 Tunisian couples were selected for prenatal diagnosis. Fetal DNA was isolated from amniotic fluid collected by transabdominal amniocentesis or from chronic villi by transcervical chorionic villus sampling. The genetic analysis for cystic fibrosis mutations was performed by denaturant gradient gel electrophoresis and denaturing high-pressure liquid phase chromatography. We performed microsatellites analysis by capillary electrophoresis in order to verify the absence of maternal cell contamination. Thirteen fetuses were affected, 21 were heterozygous carriers and 15 were healthy with two normal alleles of CFTR gene. Ten couples opted for therapeutic abortion. The microsatellites genotyping showed the absence of contamination of the fetal DNA by maternal DNA in 93.75%. Our diagnostic strategy provides rapid and reliable prenatal diagnosis at risk families of cystic fibrosis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  10. Congenital anomalies: Impact of prenatal diagnosis on mode of delivery.

    LENUS (Irish Health Repository)

    Dempsey, M A

    2010-03-01

    An important aspect of prenatal diagnosis is the avoidance of emergency caesarean delivery (CD) where the abnormality is considered lethal and the infant will not survive. A consecutive cohort of 211,163 women delivered of infants weighing 500 grams or more in three tertiary referral centers from 01\\/95 to 12\\/04, was analyzed for perinatal death attributed to congenital malformations. In the group that died in the neonatal period, the emergency CD rate was significantly lower where anomaly was detected versus undetected (17.5% versus 31%). Further, in contrast to undiagnosed anomalies, the indication for emergency CD was more often maternal in the diagnosed group (42% versus 19%, p=0.019). When a diagnosis of lethal congenital anomaly has been made in the prenatal period, the reduction in the emergency CD rate by almost half in this study supports a pivotal role for prenatal diagnosis in optimizing maternal care.

  11. Prenatal screening for congenital malformations: diagnosis and ...

    African Journals Online (AJOL)

    care of the pregnancy in terms of antenatal care, and referral for birth as ... photographed and only represent a proportion of all the malformed ... KEY WORDS: foetal malformafion, newborn deaths, prenatal care, pregnancy terminafion. Figure 1. Case 1 ... multiple methods, including ultrasound, are combined to make a ...

  12. Difficulties with Prenatal Diagnosis of the Walker-Warburg Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Low, A.S.C.; Lee, S.L.; Tan, A.S.A.; Chan, D.K.L.; Chan, L.L. [Singapore General Hospital (Singapore). Depts. of Diagnostic Radiology, Obstetrics and Gynecology and Neonatology

    2005-10-01

    We describe a postnatally diagnosed case of Walker-Warburg syndrome - a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico-radiological diagnostic features and discuss the difficulties encountered with prenatal diagnosis, especially in cases with no positive family history. An increased awareness of this rare but lethal condition, and a high index of suspicion during routine antenatal ultrasound, could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling. Brain/brainstem, congenital, magnetic resonance imaging, obstetrics, pediatrics, ultrasound.

  13. Prenatal diagnosis of bilateral pulmonary agenesis: a case report.

    Science.gov (United States)

    Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Jieun; Seo, Jeong-Wook

    2010-01-01

    We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.

  14. Prenatal Diagnosis of Bilateral Pulmonary Agenesis: a Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Ji Eun; Seo, Jeong Wook [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    2010-02-15

    We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.

  15. Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Esther Perez-Carbajo

    2015-01-01

    Full Text Available Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been published in the literature, which were all diagnosed postnatally. We report the fifth case described of this uncommon association and its prenatal diagnosis. In cases of prenatal diagnosis of achondroplasia with additional suspicious morphological abnormalities, an invasive test such as amniocentesis must be carried out to assess the karyotype normality.

  16. Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma – Single Centre Experience

    Directory of Open Access Journals (Sweden)

    Ramush Bejiqi

    2017-03-01

    CONCLUSIONS: Cardiac rhabdomyoma are benign from the cardiovascular standpoint in most affected fetuses. An early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with the involvement of a multidisciplinary team. Large tumour size, the number of tumours and localisation may cause hydrops, and they are significantly associated with poor neonatal outcome.

  17. Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe

    DEFF Research Database (Denmark)

    Winding, Louise; Loane, Maria; Wellesley, Diana;

    2014-01-01

    OBJECTIVES: The aim of this study is to describe the prenatal diagnosis and epidemiology of multicystic kidney dysplasia (MCKD). METHODS: The study is based on routinely collected data from a European database of major congenital anomalies including 13 registries with cases born in 1997...

  18. Prenatal Depression: Best Practice Guidelines for Diagnosis and Treatment

    Science.gov (United States)

    Choate, Laura H.; Gintner, Gary G.

    2011-01-01

    The purpose of this article is to provide counselors with an overview of best practices for the treatment of women who experience prenatal depression (PND). The authors first discuss issues in the screening and diagnosis of PND. Next, the 2 most common treatments, antidepressants and psychotherapy, are reviewed and discussed in relation to current…

  19. FIRST-TRIMESTER PRENATAL-DIAGNOSIS IN TWIN PREGNANCIES

    NARCIS (Netherlands)

    CHRISTIAENS, GCML; Oosterwijk, JC; STIGTER, RH; DEUTZTERLOUW, PP; KNEPPERS, ALJ; BAKKER, E

    Two twin pregnancies at risk for a sex-linked disorder are described. Both pregnancies were dichorionic. Transabdominal sampling was chosen for prenatal diagnosis. Molecular genetic techniques raised suspicion with regard to the accuracy of the samples in one case. Second-trimester amniocentesis

  20. Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe

    NARCIS (Netherlands)

    Winding, Louise; Loane, Maria; Wellesley, Diana; Addor, Marie-Claude; Arriola, Larraitz; Bakker, Marian K.; Bianchi, Fabrizio; Calzolari, Elisa; Gatt, Miriam; Haeusler, Martin; Lelong, Nathalie; Mullaney, Carmel; Scarano, Gioacchino; Tucker, David; Wiesel, Awi; Garne, Ester

    2014-01-01

    ObjectivesThe aim of this study is to describe the prenatal diagnosis and epidemiology of multicystic kidney dysplasia (MCKD). MethodsThe study is based on routinely collected data from a European database of major congenital anomalies including 13 registries with cases born in 1997-2006 and

  1. FIRST-TRIMESTER PRENATAL-DIAGNOSIS IN TWIN PREGNANCIES

    NARCIS (Netherlands)

    CHRISTIAENS, GCML; Oosterwijk, JC; STIGTER, RH; DEUTZTERLOUW, PP; KNEPPERS, ALJ; BAKKER, E

    1994-01-01

    Two twin pregnancies at risk for a sex-linked disorder are described. Both pregnancies were dichorionic. Transabdominal sampling was chosen for prenatal diagnosis. Molecular genetic techniques raised suspicion with regard to the accuracy of the samples in one case. Second-trimester amniocentesis con

  2. Prenatal Depression: Best Practice Guidelines for Diagnosis and Treatment

    Science.gov (United States)

    Choate, Laura H.; Gintner, Gary G.

    2011-01-01

    The purpose of this article is to provide counselors with an overview of best practices for the treatment of women who experience prenatal depression (PND). The authors first discuss issues in the screening and diagnosis of PND. Next, the 2 most common treatments, antidepressants and psychotherapy, are reviewed and discussed in relation to current…

  3. Pallister-Killian syndrome: difficulties of prenatal diagnosis.

    Science.gov (United States)

    Doray, Bérénice; Girard-Lemaire, Françoise; Gasser, Bernard; Baldauf, Jean-Jacques; De Geeter, Bernard; Spizzo, Michèle; Zeidan, Charles; Flori, Elisabeth

    2002-06-01

    The first prenatal diagnosis of Pallister-Killian syndrome (PKS) was reported by Gilgenkrantz et al. in1985. Since this report, about 60 prenatal cases have been reported but both sonographic and cytogenetic diagnoses remain difficult. Although ultrasound anomalies such as congenital diaphragmatic hernia, polyhydramnios and rhizomelic micromelia in association with fetal overgrowth are very suggestive of the syndrome, they are inconstant and they may even be absent. The mosaic distribution of the supernumerary isochromosome 12p greatly increases these difficulties. No prenatal cytogenetic technique is sensitive enough to ensure prenatal diagnosis and false-negative results have been described on fetal blood, chorionic villi and amniocentesis. We report here two prenatal cases of PKS which illustrate the great variability of the fetal phenotype. In reviewing the 63 reported cases, we attempt to determine ultrasound indicators of the syndrome and to define a cytogenetic strategy. In cases where ultrasound indicators are present, our proposal is first to perform chorionic villus or placental sampling and then amniocentesis when the first cytogenetic result is normal. Fetal blood sampling is the least indicated method because of the low frequency of the isochromosome in lymphocytes. In this cytogenetic strategy, fluorescent in situ hybridization (FISH) and especially interphase FISH on non-cultured cells increases the probability or identifying the isochromosome. A misdiagnosis remains possible when ultrasound is not contributory; the identification of new discriminating ultrasound indicators would be very helpful in this context.

  4. The results of cytogenetic analyses in prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Jovanović-Privrodski Jadranka

    2007-01-01

    Full Text Available Introduction. G-banding and other classical cytogenetic methods are still in use, together with molecular cytogenetic techniques such as FISH (Fluorescence In Situ Hybridization and SKY (Spectral Karyotyping. Material and methods. This retrospective study evaluated clinical data on individuaols seeking genetic counseling over a 15-year period (1992 - 2007 at the Medical Genetic Center, Child and Youth Health Care Institute of Vojvodina in Novi Sad. The study included 37.191 genetic counselings, and 20.607 prenatal analyses (amniocentesis and cordocentesis. Results Over a 15-year period (1992 - 2007 17.937 amniotic fluid samples were analyzed and 274 abnormal karyotypes were found; out of 2.670 fetal blood samples, there were 78 abnormal karyotypes. During a 15-year period, prenatal diagnosis, using amniocentesis and/or cordocentesis, showed 352 fetuses with chromosomal aberrations. Discussion. On average, over the past 15-year period, 8% of pregnancies were controlled with invasive prenatal procedures. The percentage has changed; in fact, it is increasing from year to year. In 1992, only 0.82% (N=139/17000 of pregnant women in Vojvodina underwent invasive prenatal procedures, and in 2006 the rate increased to 15.65% (N=2660/17000. Conclusion. It is necessary to improve and promote the possibilities of genetic counseling and invasive prenatal diagnosis in order to prevent the occurrence of chromosomal aberrations and other genetic diseases.

  5. Cell-free fetal DNA in maternal plasma and noninvasive prenatal diagnosis

    OpenAIRE

    Ester Silveira Ramos

    2006-01-01

    The noninvasive nature of the detection of fetal DNA in the maternal circulation represents the greatest advantage over the conventional methods of prenatal diagnosis. The applications of this methodology involve the detection of the fetal sex, and diagnosis, intra-uterine treatment, and evaluation of the prognosis of many diseases. Fetal cells detected in the maternal circulation have also been shown to be implicated in autoimmune diseases and to represent a potential source of stem cells. O...

  6. Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

    Directory of Open Access Journals (Sweden)

    Ryszard Slezak

    2008-04-01

    Full Text Available The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during the first trimester of pregnancy. Thereafter, taking into account the severity of the disorders the decision should be taken in regard of subsequent course of the pregnancy taking into account a possibilities of treatment, parent's acceptation of a handicapped child but also, in some cases the possibility of termination of the pregnancy. In prenatal testing, both screening and diagnostic procedures are included. Screening procedures such as first and second trimester biochemical and/or ultrasound screening, first trimester combined ultrasound/biochemical screening and integrated screening should be widely offered to pregnant women. However, interpretation of screening results requires awareness of both sensitivity and predictive value of these procedures. In prenatal diagnosis ultrasound/MRI searching as well as genetic procedures are offered to pregnant women. A variety of approaches for genetic prenatal analyses are now available, including preimplantation diagnosis, chorion villi sampling, amniocentesis, fetal blood sampling as well as promising experimental procedures (e.g. fetal cell and DNA isolation from maternal blood. An incredible progress in genetic methods opened new possibilities for valuable genetic diagnosis. Although karyotyping is widely accepted as golden standard, the discussion is ongoing throughout Europe concerning shifting to new genetic techniques which allow obtaining rapid results in prenatal diagnosis of aneuploidy (e.g. RAPID-FISH, MLPA, quantitative PCR.

  7. Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Francesca Romana Grati

    2014-07-01

    Full Text Available Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In this review, the mechanisms underlying feto-placental chromosomal mosaicism are presented. Based on the substantial retrospective diagnostic experience with chorionic villi samples (CVS of a prenatal diagnosis laboratory the following items are discussed: (i The frequency of the different types of mosaicism (confined placental, CPM, and true fetal mosaicisms, TFM; (ii The risk of fetal confirmation after the detection of a mosaic in CVS stratified by chromosome abnormality and placental tissue involvement; (iii The frequency of uniparental disomy for imprinted chromosomes associated with CPM; (iv The incidence of false-positive and false-negative results in CVS samples analyzed by only (semi-direct preparation or long term culture; and (v The implications of the presence of a feto-placental mosaicism for microarray analysis of CVS and non-invasive prenatal screening (NIPS.

  8. NON-INVASIVE PRENATAL DIAGNOSIS: A REVIEW

    Directory of Open Access Journals (Sweden)

    Madhusudan Dey, Sumita Agarwal and Sumedha Sharma

    2013-04-01

    Full Text Available ABSTRACT: Aneuploidies are one of the important causes of perinatal morbidity and mortality. Initially screening for aneuploidies started with maternal age risk estimation. Later on, serum testing for biochemical markers and ultrasound markers were added. Women detected to be at high risk for aneuploidies were offered invasive testing. Recently, various methods including non-invasive prenatal testing (NIPT by analysis of cell-free fetal DNA (cffDNA in maternal blood has shown promise for highly accurate detection of common fetal autosomal trisomies. Incorporating these new non-invasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counselling plays an integral role. The advantage of the technique being elimination of risks such as miscarriage associated with invasive diagnostic procedures. But then this new technique has its own set of technical limitations and ethical issues at present and further research is required before implementation. Data was obtained through a literature search via Pubmed and Google as well as detailed search of our library database.

  9. [Cystic adenomatoid malformation of the lung. Importance of prenatal diagnosis].

    Science.gov (United States)

    Cabeza, Beatriz; Oñoro, Gonzalo; Cantarín Extremera, Verónica; Sanz Santiago, Verónica; Sequeiros, Adolfo

    2011-04-01

    Cystic adenomatoid malformation of the lung is a rare malformation of the lung airway which often performed diagnosed in the prenatal period by ultrasound. Ultrasound monitoring should be performed during pregnancy to assess lung development. We report the case of a 4-year-old patient with prenatal diagnosis of cystic adenomatoid malformation of the lung, not confirmed by chest radiograph at birth. The patient underwent surgery at 4 years of age after diagnosis was made for presenting recurrent pneumonia. A normal chest radiograph at birth does not exclude this malformation and a computerized tomography at 4 weeks of birth must be done to confirm or rule out this anomaly. Once the diagnosis is made, surgical treatment should be prompted to avoid complications.

  10. Prenatal diagnosis of Werdnig-Hoffmann disease in China

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    Objective To establish a means for prenatal prediction of spinal muscular atrophy (SMA) through survival motor neuron (SMN) gene deletion analysis and genetic counseling in families with a child affected with SMA. Methods Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8.Results The pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated.Conclusion This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.

  11. Prenatal diagnosis of horseshoe lung: contribution of MRI

    Energy Technology Data Exchange (ETDEWEB)

    Tilea, Bogdana; Garel, Catherine; Sebag, Guy [Hopital Robert Debre, Department of Paediatric Imaging, Paris (France); Delezoide, Anne-Lise [Hopital Robert Debre, Department of Developmental Biology, Paris (France); Vuillard, Edith; Oury, Jean-Francois [Hopital Robert Debre, Department of Obstetrics and Gynaecology, Paris (France); Azancot, Annabelle [Hopital Robert Debre, Department of Fetal Cardiology, Paris (France)

    2005-10-01

    Horseshoe lung is a very rare pulmonary anomaly that is characterized by an isthmus of lung parenchyma bridging the right and left lungs and extending through the mediastinum. We report on the prenatal diagnosis of such a malformation in a 33-week-gestation fetus. The diagnosis was initially suspected on antenatal ultrasonography performed at 33 weeks and confirmed by fetal MRI and subsequent pathological examination after termination of pregnancy. To our knowledge, this is the first reported case of antenatal diagnosis of horseshoe lung. (orig.)

  12. 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.

  13. Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.

    Science.gov (United States)

    Halley, D; Heukels-Dully, M J

    1977-01-01

    Autoradiographic demonstration of 3H-hypoxanthine incorporation in small numbers of amniotic fluid cells cultured on coverslips is a rapid and practical technique in the prenatal diagnosis of the Lesch-Nyhan mutation. An affected male fetus, a normal male fetus, and a heterozygous female fetus were identified within 14 days after amniocentesis in three pregancies at risk for the Lesch-Nyhan syndrome. Images PMID:856956

  14. Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2010-03-01

    Full Text Available Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while others have few dysmorphic features and prolonged survival. This article provides a comprehensive review of the prenatal diagnosis and genetic counseling for mosaic trisomy 13, including confined placental mosaicism 13, mosaic trisomy 13 diagnosed at amniocentesis, and phylloid hypomelanosis in association with mosaic trisomy 13.

  15. FUNCTIONALLY UNIVENTRICULAR HEARTS: IMPACT OF PRE-NATAL DIAGNOSIS

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    Antonio Francesco Corno

    2015-02-01

    Full Text Available Within the last few decades the pre-natal echocardiographic diagnosis of congenital heart defects has made substantial progresses, particularly for the identification of complex malformation. Functionally univentricular hearts categorize a huge variety of heart malformations. Since no one of the patients with these congenital heart defects can ever undergo a bi-ventricular type of repair, early recognition and decision-making from the neonatal period are required in order to allow for appropriate multiple-step diagnostic and treatment procedures, either of interventional cardiology and/or surgery, on the pathway of univentricular heart. In the literature strong disagreements exist about the potential impact of the pre-natal diagnosis on the early and late outcomes of complex congenital heart defects. This review of the recent reports has been undertaken to better understand the impact of pre-natal diagnosis in functionally univentricular hearts taking into consideration the following topics:•pre-natal screening•outcomes and survival•general morbidity•neurologic and developmental consequences•pregnancy management and delivery planning•resources utilization and costs/benefits issues•ethical implications, parents counseling, interruption of pregnancy versus treatment

  16. Sex differentiation disorders (SDD) prenatal sonographic diagnosis, genetic and hormonal work-up.

    Science.gov (United States)

    Katorza, Eldad; Pinhas-Hamiel, Orit; Mazkereth, Ram; Gilboa, Yinon; Achiron, Reuven

    2009-09-01

    Gender is determined by the genetic, gonadal and hormonal/ phenotypic sex. Genetic sex is determined at conception. The establishment of the gonadal sex (ovary/testis) and the phenotypic sex (external and internal genitalia) is a complicated multistep process which is determined during fetal life mainly during the first trimester. Recently more genes have been found to be involved in this process. Prenatal diagnosis of fetal gender can be made using ultrasound technology, genetic and hormonal examinations. Nowadays using a vaginal and abdominal transducer for US examination recognition of external and internal genitalia of both genders is possible. The determination of gender during fetal life is important not only as a matter of curiosity; in some cases of ambiguity (for example congenital adrenal hyperplasia) prenatal treatment can change the natural history of the disease. Prenatal diagnosis can also subtype the ambiguity, and its severity can be established. In this review we describe our experience in prenatal diagnosis and establishment of the fetal gender, the subtypes of ambiguity and our suggestion for the process of diagnostic work-up.

  17. Evaluation of Outcome- Prenatal Diagnosis Indication and Results Suitability in Families Referred to our Laboratory For Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Ayşegül Türkyılmaz

    2007-01-01

    Full Text Available Since our aim is to establish the importance, necessity and concept of prenatal diagnosis in our region and supply routine service at a stage which we admit as a transitional period for application, all of the materials of amniocentesis, cordocentesis and corion villi sample referred to laboratories were evaluated without refusal.When we examined prenatal diagnoses of these specimens, we found Down Risk (according to triple test result in 164 specimens (%34, fetal anomaly risk in 122 (%25, advanced age in 69 (%14 poor-obstetric anamnesis in 27(%5, Down Syndrome- infant history in 20 (%4, family request in 17, and habitual abortus (%3 etc. in specimens. Lymphocyte Culture prepared in duplicate for each specimen and chromosome were obtained from total of ten slides for each specimen. Slides were stained with Giemsa Banding Technic (GTG Banding. Total (10x481 4810 slides were evaluated for diagnosis.There were no false positive and false negative results.

  18. Experiences of prenatal diagnosis and decision-making about termination of pregnancy: A qualitative study.

    Science.gov (United States)

    Hodgson, Jan; Pitt, Penelope; Metcalfe, Sylvia; Halliday, Jane; Menezes, Melody; Fisher, Jane; Hickerton, Chriselle; Petersen, Kerry; McClaren, Belinda

    2016-12-01

    Advances in genetic technologies and ultrasound screening techniques have increased the ability to predict and diagnose congenital anomalies during pregnancy. As a result more prospective parents than ever before will receive a prenatal diagnosis of a fetal abnormality. Little is known about how Australian women and men experience receiving a prenatal diagnosis and how they make their decision about whether or not to continue the pregnancy. This qualitative study aims to describe parental experiences and examine how best to provide support after a prenatal diagnosis. Individual in-depth interviews were conducted with 102 women and men approximately six weeks post-diagnosis of fetal abnormality. Data were elicited using a narrative, chronological approach and women (n = 75) and a sample of male partners (n = 27) were separately interviewed. Thematic analysis, involving a rigorous process of qualitative coding, enabled iterative development and validation of emergent themes. Participants identified that the shock of the diagnosis can be lessened when good care is delivered, by provision of: clear, accurate and respectful communication; empathic, non-judgemental, professional support; timely access to further testing and appointments; seamless interactions with services and administration; appropriate choices about invasive testing; acknowledgment of the enormity and unexpected nature of the diagnosis, and of the subsequent decision-making challenges; and discussion of the myriad feelings likely to emerge throughout the process. This study has demonstrated the importance of providing timely access to accurate information and supportive, non-judgemental care for women and their partners following prenatal diagnosis of a fetal abnormality. © 2016 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  19. Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review.

    Science.gov (United States)

    Chen, Chih-Ping; Chen, Ming; Su, Yi-Ning; Huang, Jian-Pei; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chang, Shun-Ping; Chen, Yu-Ting; Lee, Chen-Chi; Chen, Li-Feng; Pan, Chen-Wen; Wang, Wayseen

    2013-10-15

    We present prenatal diagnosis and molecular cytogenetic analysis of mosaic small supernumerary marker chromosome 1 [sSMC(1)]. We review the literature of sSMC(1) at amniocentesis and chromosome 1p21.1-p12 duplication syndrome. We discuss the genotype-phenotype correlation of the involved genes of ALX3, RBM15, NTNG1, SLC25A24, GPSM2, TBX15 and NOTCH2 in this case.

  20. Prenatal diagnosis of hypophosphatasia congenita using ultrasonography

    Energy Technology Data Exchange (ETDEWEB)

    Guguloth, Ashwitha [Dept. of Radiology, Bangalore Medical College and Research Institute, Bangalore (India); Aswani, Yashant; Anandpara, Karan Manoj [Dept. of Radiology, Seth G S Medical College and KEM Hospital, Mumbai (India)

    2016-01-15

    Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a 25-year-old female who came for an anomaly scan in her second trimester of pregnancy. Additional findings of generalized demineralization and osteochondral spurs led to the diagnosis of hypophosphatasia congenita. The pregnancy was terminated, and the findings were confirmed on autopsy. Common differential diagnoses with clues to diagnose the above mentioned condition have been discussed here. Early and accurate detection of this medical condition is important as no treatment has been established for this condition. Therefore, antenatal ultrasonography helps in diagnosing and decision making with respect to the current pregnancy and lays the foundation for the genetic counseling of the couple.

  1. Natural history of fetal trisomy 13 after prenatal diagnosis.

    Science.gov (United States)

    Barry, Sinead C; Walsh, Colin A; Burke, Annette L; McParland, Peter; McAuliffe, Fionnuala M; Morrison, John J

    2015-01-01

    There are currently limited data describing the natural history and outcome for fetal trisomy 13 diagnosed prenatally. The aim of this study was to evaluate the fetal and neonatal outcome for pregnancies with an established prenatal diagnosis of fetal trisomy 13, and a parental decision for continuation of the pregnancy. To this end, the obstetric and neonatal outcome data for such pregnancies, diagnosed at two referral Fetal Medicine Centers, were retrospectively obtained and examined. During the study period, there were 45 cases of trisomy 13 diagnosed at both units, of which 26 (56%) continued with the pregnancy to its natural outcome. There were 12 intrauterine deaths in the cohort resulting in a rate of 46.2% of intrauterine lethality. Conversely, the live birth rate was 53.8%. For infants born alive, neonatal death on day 1 of life occurred in 78.6% of cases. The overall early neonatal mortality rate was 93%. There was one infant death at 6 weeks of age and no survival noted beyond this period. These data provide reliable information for parental counseling pertaining to risk of intrauterine death when trisomy 13 is diagnosed prenatally. These data also indicate that the survival outcome is worse than that previously accepted from studies of postnatal follow up of live born infants with this diagnosis.

  2. Diagnóstico prenatal del pie bot Prenatal diagnosis of clubfoot

    Directory of Open Access Journals (Sweden)

    Julio Javier Masquijo

    2011-12-01

    the method, the association with other diseases and the need to perform amniocentesis analysis of the karyotype. Objectives. To analyze the percentage of patients with prenatal diagnosis of clubfoot, evaluate mothers' opinion on this issue, and clarify some concepts by reviewing the literature available to date. Methods. We retrospectively analyzed a group of 54 consecutive patients diagnosed with clubfoot treated from January 2008 to June 2010. We documented the number of ultrasounds performed during pregnancy, type of ultrasound (2D, 3D or 4D and the gestational week at diagnosis. Mothers were surveyed to ascertain their opinion with regard to prenatal diagnosis. Results. An average of 3.2 ultrasounds was performed during pregnancy (r, 1-7. Prenatal diagnosis was performed in 25% of cases (13/52 patients. Diagnosis was performed in 7 cases with 2-D ultrasound in 4 with 3-D and in 2 with 4-D. Diagnosis was performed on average at week 22 (r, 20- 28. No patient was diagnosed early, 12 were diagnosed late and 1 very late. Conclusion. Prenatal diagnosis gives parents the opportunity for psychological preparation and counseling regarding clubfoot. In our series, 90.4% supported prenatal diagnosis.

  3. Prenatal diagnosis of chorionicity in twins.

    LENUS (Irish Health Repository)

    Hassan, T

    2012-02-01

    The aim of this audit was to assess the accuracy of transabdominal ultrasound scan in predicting chorionicity in twin pregnancies in our unit. The presence or absence of lambda sign, T-sign, dividing membrane thickness and number of placentae were used to determine chorionicity. We retrospectively analysed these antenatal markers in 268 sets of twins delivered over a 5 year period and compared it with the postpartum placental histology and neonatal gender. Of 268 twin deliveries, 204 (76%) had both chorionicity and placental histology to compare. 67 of 84 (80%) were correctly diagnosed antenatally as monochorionic and 137 of 151 (91%) as dichorionic. In 31 cases (15%) the ultrasound diagnosis of chorionicity didn\\'t match placental histology. Seventeen were thought to be monochorionic antenatally but were confirmed dichorionic on placental histology. Overall chorionicity was correctly diagnosed in 171\\/204 (84%) using transabdominal ultrasound scan (USS) in all trimesters. However the sensitivity and specificity of USS was much higher for dichorionic twins when carried out before 14 weeks of gestation.

  4. Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

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    Halit Akbas

    2013-01-01

    Full Text Available Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0 referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH. However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb and 4q35.2 (2.449 Mb. In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

  5. Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome.

    Science.gov (United States)

    Dave, Usha; Shetty, Dhanlaxmi

    2014-02-01

    Phenotypic variability and the lack of a diagnostic marker have complicated the rapid diagnosis and genetic counseling for Cornelia de Lange syndrome (CdLS). The clinical features of CdLS are striking and easily recognizable by characteristic facial dysmorphism, upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities with severe mental retardation. The molecular diagnosis is essential for predicting prognosis and genetic counseling in the affected family, especially while planning the next pregnancy. We report here from India six cases of CdLS and how precise mutational screening in two cases helped in prenatal diagnosis and proved significant in prevention of recurrence in the affected family.

  6. Prenatal diagnosis of neonatal hemochromatosis: it is possible?

    Directory of Open Access Journals (Sweden)

    Helena Isabel Lopes

    2015-06-01

    Full Text Available Introduction: Neonatal Hemochromatosis is a rare liver disease of intrauterine onset, defined by neonatal liver failure associated with extrahepatic siderosis. Gestational alloimmune liver disease has been established as the cause of fetal liver injury. At present, there is no effective approach to prenatal diagnosis. Case Report: A 23-year-old pregnant woman presented at 32 weeks of gestation with oligohydramnios and hyperechogenic liver focus on ultrasound. The premature newborn developed multisystem organ failure and died at the second day of life despite aggressive support care. The autopsy allowed the diagnosis of Neonatal Hemochromatosis. Conclusion: The ultrasound identification of hyperechogenic nodular focus on fetal liver may be suggestive of Neonatal Hemochromatosis. Further investigations are needed to identify the specific alloimmune complex in maternal blood. Establishment of the diagnosis in an affected fetus or newborn may have a major impact for the prognosis of disease and for the outcome of future pregnancies.

  7. Clinical application of fluorescence in situ hybridization for prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Shu-fang JIANG

    2012-07-01

    Full Text Available Objective To establish and optimize the procedures of fluorescence in situ hybridization(FISH), and evaluate its clinical value in rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. Methods Amniotic fluid or fetal blood was sampled by routine invasive procedures. After the amniotic fluid cells or fetal blood cells were separated and sequentially processed with hypotonic solution, fixation solution, smear and high temperature, they were hybridized in situ with two panels of specific fluorescence probes to detect numerical abnormality of chromosomes 21, 18, 13, X, Y. All the samples were also cultured and analyzed for their karyotype by conventional methods. Results When it was used as a diagnostic criterion of chromosomal number that the fluorescence signals were observed in ≥90% cells, GLP 13/GLP 21 probe panel showed 2 green/2 red fluorescence signals and CSP18/CSP X/CSP Y probe panel showed 2 blue/2 yellow (female or 2 blue/1 yellow/1 red fluorescence signals (male under normal condition. The test reports of all 196 cases were sent out in 72-96 hours, and 7 cases of Down syndrome, 2 cases of trisomy 18 and 1 case of sex chromosomal numerical abnormality were detected, which were accordant with karyotype analysis results reported one month later. Conclusions FISH has potential for clinical application, and is applicable to rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. The rapid FISH, together with conventional karyotyping, offer a valuable means for prenatal diagnosis of fetal aneuploidies.

  8. Prenatal Diagnosis of Dextrotransposition of the Great Arteries

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    Jeng-Hsiu Hung

    2008-10-01

    Full Text Available Dextrotransposition of the great arteries (DTGA is a common cardiac cause of cyanosis in newborn infants that can cause acidosis and death within a short period of time unless there is a large atrial-level shunt or a patent ductus arteriosus. Here, we report a case of prenatal diagnosis of DTGA at 24+1 gestational weeks. In a tilted 4-chamber view, the pulmonary trunk branched to the left and the right pulmonary, with its root connected to the left ventricle outflow tract. In the short-axis view, the pulmonary trunk was shown to be parallel with the ascending aortic root. Cesarean section was performed due to the nonreassuring fetal status at 38+5 gestational weeks. The male neonate appeared to have mild cyanotic symptoms and weighed 3,108 g. Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. Neonatal echocardiography was performed immediately after birth and the findings confirmed DTGA associated with atrial septal defect secundum. Postnatally, angiography confirmed the echocardiographic diagnosis of DTGA with a large atrial septal defect secundum and a large patent ductus arteriosus. Jatene arterial switch operation and atrial septal defect closure with Gore-Tex patch were performed. The neonate withstood the operation well and was discharged 27 days after birth weighing 2,950 g and in a stable condition. Prenatal diagnosis of DTGA can greatly aid to prepare the patient's family and the surgeon and significantly improve the outcome of complex heart disease in the neonatal period.

  9. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

    Science.gov (United States)

    Suzumori, Nobuhiro; Kaname, Tadashi; Muramatsu, Yukako; Yanagi, Kumiko; Kumagai, Kyoko; Mizuno, Seiji; Naritomi, Kenji; Saitoh, Shinji; Sugiura-Ogasawara, Mayumi

    2013-11-01

    Lenz microphthalmia syndrome comprises microphthalmia-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern. In 2004, it was reported that the missense mutation (BCL-6 co-repressor gene [BCOR] c.254C>T, p.P85L) in a single family with Lenz microphthalmia syndrome co-segregated with the disease phenotype. We report a case of prenatal diagnosis for X-linked recessive Lenz microphthalmia syndrome with the mutation. A 32-year-old gravida 5, para 2 Japanese woman was referred to Nagoya City University Hospital at 15 weeks of gestation. After genetic counseling and informed consent, amniocentesis was performed for fetal karyotyping, which was 46,XY. Using the extracted DNA from cultured amniotic cells, fetal search for BCOR c.254C>T mutation was undertaken. The couple requested medical termination of pregnancy, and the postabortion examination confirmed the diagnosis. This is the third report of a BCOR mutation, associated with X-linked syndromic microphthalmia, and most importantly, it is always the same mutation. The prenatal genetic diagnosis of the Lenz microphthalmia syndrome allowed time for parental counseling and delivery planning.

  10. Discordance between prenatal cytogenetic diagnosis and outcome of pregnancy.

    Science.gov (United States)

    Loft, A; Tabor, A

    1984-01-01

    From 1.3.73 to 30.9.80 5580 women had an amniocentesis performed here or elsewhere; fetal chromosome analyses were carried out in this laboratory. We found 112 abnormal karyotypes (2 per cent) out of 5591 chromosome analyses. In 40 women (0.7 per cent) no cytogenetic diagnosis was obtained. Follow-up was successful in 99.5 per cent. Nine cases are reported in detail: Three cases had discrepancy between the karyotype in amniotic fluid and peripheral blood after delivery, two of these cases turned out to be 46,XX (male) while the third was prenatally determined as trisomy 21, but had a 46,XX karyotype at birth. Six cases had discrepancy between the karyotype in amniotic fluid and the phenotypic outcome at birth/abortion. One case was a prenatally undetected 45,X/46,XY mosaicism; one case was an unexplained 45,X male fetus; two cases were prenatally determined as trisomy 21, but at abortion a normal karyotype was determined and in two cases maternal cells were probably examined. The incidence of cytogenetic errors in this study was very low.

  11. Spontaneous pregnancy outcome after prenatal diagnosis of anencephaly.

    Science.gov (United States)

    Jaquier, M; Klein, A; Boltshauser, E

    2006-08-01

    Parents are usually told that many anencephalic offspring die in utero or soon after delivery, and many obstetricians offer elective termination of the pregnancy. Following the personal experience of the first author, a personal website was created with the intention of providing information and exchanging views with other parents confronted with a prenatal diagnosis of anencephaly. Data were collected from 211 pregnancies where the parents opted not to terminate pregnancy. These data revealed that polyhydramnios was a feature in 56 (26%) pregnancies, death in utero in 15 (7%) pregnancies, 72 (34%) babies were born prematurely (anencephaly is medically safe and should be considered as an option.

  12. Improving prenatal health: setting the agenda for increased male involvement.

    Science.gov (United States)

    Guadagno, Marie; Mackert, Michael; Rochlen, Aaron

    2013-11-01

    The U.S. infant mortality rate is among the highest in the developed world, with recent vital statistics reports estimating 6.14 infant deaths per 1,000 live births. Traditional health education and promotion to improve maternal, infant, and child health in the United States has focused only on women, leaving men out of important health messages that may affect pregnancy outcomes as well as family well-being. Recently, public health scholars have suggested that men be included in prenatal health education in an effort to improve birth outcomes and reduce infant mortality. Incorporating men in prenatal health promotion and education has been found to improve overall birth preparedness, reduce the risk of maternal-infant HIV transmission, and reduce perinatal mortality in less-developed nations. Although these results are positive, research on paternal impact in pregnancy outcomes in the United States to date is lacking. This article proposes a U.S.-specific research agenda to understand the current role of men in pregnancy health, as well as actual involvement, barriers, and the influence men can have in prenatal health. A discussion of culture, individual motivations, health care providers, and social marketing is also considered.

  13. Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX.

    Science.gov (United States)

    Ben Hamouda, H; Mkacher, N; Elghezal, H; Bannour, H; Kamoun, M; Soua, H; Saad, A; Souissi, M M; Sfar, M T

    2009-11-01

    Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.

  14. Prenatal toxoplasmosis diagnosis from amniotic fluid by PCR

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    Vidigal Paula Vieira Teixeira

    2002-01-01

    Full Text Available Toxoplasmosis is one of the most common infections all over the world. Most cases are asymptomatic, except in immunosuppressed individuals and fetuses, which can be seriously damaged. Prenatal diagnosis should be made as soon as possible since treatment of the mother can minimize fetal sequelae. Our aim in this study was to test the polymerase chain reaction technique (PCR in 86 samples of amniotic fluid from women who seroconverted during pregnancy. DNA was amplified using external primers and, in a second step, internal primers, in a nested PCR system. Samples were also inoculated into mice and the newborn were evaluated by T. gondii serology, skull x-ray, transfontanel ultrasound, fundoscopic examination, lumbar puncture and clinical examination. PCR was positive in seven cases and negative in 79. Among PCR-positive cases, two were negative by inoculation into mice and by clinical evaluation; among PCR-negative ones, three had clinical evidence of toxoplasmosis and one was positive after inoculation into mice. PCR showed values of sensitivity = 62.5% and specificity = 97.4%; the values of inoculation into mice where 42.9% and 100%, respectively. Although PCR should not be used alone for prenatal diagnosis of congenital toxoplasmosis, it is a promising method and deserves more studies to improve its efficacy.

  15. [Prenatal diagnosis. I: Prenatal diagnosis program at the Medical Genetics Unit of the Universidad de Zulia, Maracaibo, Venezuela].

    Science.gov (United States)

    Prieto-Carrasquero, M; Molero, A; Carrasquero, N; Paz, V; González, S; Pineda-Del Villar, L; Del Villar, A; Rojas-Atencio, A; Quintero, M; Fulcado, W; Mena, R; Morales-Machin, A

    1998-06-01

    The Prenatal Diagnosis Program of the Medical Genetic Unit of University of Zulia has the following objectives: Identification of Genetic Risk Factors (GRF) in those couples who attend to the Prenatal Genetic Clinic, application of different prenatal diagnostic procedures (PDP), and providing adequate genetic counseling. The goal of this paper is to show preliminary results obtained between January 1993 and December 1996. Three hundred and twenty one pregnant women were analyzed by determining the GRF and taking into account the genetic clinical history. The GRF analyzed were: Advanced maternal age (AMA), congenital malformation history (CMH), previous child with chromosomic anomalies (PCCA), defects of neural tube history (DNTH), congenital heart disease history (CHDH), any parent carrier of chromosomic anomaly (PCA), habitual abortion (HA), abnormal fetal echography (AFE), altered maternal serum levels of alpha-feto-protein (AMSAFP) and OTHERS: exposure to teratogenic agents, history of Mendelian diseases, maternal systemic diseases and anxiety in the mother or in her partner. The PDP was designed according to the GRF, which included fetal echography (FE), fetal echocardiography (FEc), amniocentesis (AMN), chordocentesis (CCT) and AMSAFP. Results showed that 58.4% of the expectant mothers asked for counseling during the 2nd trimester, 70% of the total showed only one GRF, and AMA was the most frequent GRF found (40.3%), followed by PCCA, AFE, CHDH, HA, DNTH, PCA, and OTHERS in that order. The specific PDP applied to the identified GRF allowed a health evaluation of the fetus. The GRF identification gave the opportunity of establishing a Prenatal Diagnostic Program producing a response to the couple's needs and showed the utility of an integral and multidisciplinary management directed to any expecting mother in order to identify any high GRF.

  16. Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Senocak, Efsun Urger; Oguz, Kader Karli; Akata, Deniz [Hacettepe University Faculty of Medicine, Department of Radiology, Sihhiye, Ankara (Turkey); Haliloglu, Goknur [Hacettepe University Faculty of Medicine, Department of Pediatric Neurology, Ankara (Turkey); Karcaaltincaba, Deniz; Kandemir, Omer [Etlik Zubeyde Hanim Woman' s Hospital, Department of Obstetrics and Gynaecology, Ankara (Turkey)

    2009-04-15

    Pena-Shokeir syndrome phenotype is characterized by neurogenic arthrogryposis, facial anomalies, polyhydramnios and lung hypoplasia. Prenatal US is crucial in showing Pena-Shokeir syndrome phenotype in addition to demonstrating reduced fetal movements or akinesia as an underlying aetiological factor as early as the 14th week of gestation. Several reports of prenatal diagnosis of Pena-Shokeir syndrome phenotype by US have been published. In this report, MRI findings providing prenatal diagnosis are presented. (orig.)

  17. Prenatal diagnosis of congenital fetal heart abnormalities and clinical analysis

    Institute of Scientific and Technical Information of China (English)

    LI Hui; WEI Jun; MA Ying; SHANG Tao

    2005-01-01

    Objective: To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Methods: Nine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close follow-up was given for normal fetal heart pregnancies and neconatal echocardiography was performed to check the accuracy of prenatal diagnosis. Results: (1) Forty-six cases(4.68%) were found to have fetal heart abnormalities in this study, 69.56% of them were diagnosed by single four-chamber view, another 30.43% fetal CHD were found by combining other views; (2) Fotry-one parents of prenatal fetuses with CHD chose to terminate pregnancy, thirty-two of them gave consent to conduct autopsy, 93.75% of which yielded unanimous conclusion between prenatal fetal echocardiography and autopsy; (3) Thirty-two of 46 cases underwent fetal chromosome analysis, 8 cases (25%) were found to have abnormal chromosome; (4) Five cases were found to have right ventricle and atrium a little bigger than those on the left side, with the unequal condition being the same after birth, but there were no clinical manifestations and they are healthy for the time being; (5) Nine hundred and thirty-six cases were not found with abnormality in this study, but one case was diagnosed with ventricular septal defect after birth, one case was diagnosed with patent ductus arteriosus, one case had atrial septal defect after birth. Conclusions: (1) The detected CHD rate was 4.68% by screening fetal heart with five transverse planes according to Yagel's description of high risk population basis for CHD. The coinciding rate of prenatal diagnosis and autopsy was 93.75%; (2) The sensitivity of detecting fetal heart

  18. Prenatal diagnosis of fetal skeletal dysplasia with 3D CT

    Energy Technology Data Exchange (ETDEWEB)

    Miyazaki, Osamu; Horiuchi, Tetsuya [National Center for Child Health and Development, Department of Radiology, Seatagaya-ku, Tokyo (Japan); Nishimura, Gen [Tokyo Metropolitan Children' s Medical Center, Department of Pediatric Imaging, Fuchu-shi, Tokyo (Japan); Sago, Haruhiko; Hayashi, Satoshi [National Center for Child Health and Development, Department of Perinatal Medicine and Maternal Care, Seatagaya-ku, Tokyo (Japan); Kosaki, Rika [National Center for Child Health and Development, Department of Strategic Medicine, Division of Clinical Genetics and Molecular Medicine, Seatagaya-ku, Tokyo (Japan)

    2012-07-15

    Clinical use of 3D CT for fetal skeletal malformations is controversial. The purpose of this study was to evaluate the efficacy of fetal 3D CT using three protocols with different radiation doses and through comparing findings between fetal CT and conventional postnatal radiographic skeletal survey. Seventeen fetuses underwent CT for suspected skeletal dysplasia. A relay of three CT protocols with stepwise dose-reduction were used over the study period. The concordance between the CT diagnosis and the final diagnosis was assessed. Ninety-three radiological findings identifiable on radiographs were compared with CT. Fetal CT provided the correct diagnosis in all 17 fetuses, the detectability rate of cardinal findings was 93.5 %. In 59 % of the fetuses an US-based diagnosis was changed prenatally due to CT findings. The estimated fetal radiation dose in the final protocol was 3.4 mSv (50 %) of the initial protocol, and this dose reduction did not result in degraded image quality. The capability of fetal CT to delineate the skeleton was almost the same as that of postnatal skeletal survey. The perinatal management was altered due to these more specific CT findings, which aided in counseling and in the management of the pregnancy. (orig.)

  19. Meckel-Gruber syndrome. Importance of prenatal diagnosis.

    Science.gov (United States)

    Nyberg, D A; Hallesy, D; Mahony, B S; Hirsch, J H; Luthy, D A; Hickok, D

    1990-12-01

    Prenatal sonographic findings are reported in six fetuses with the Meckel-Gruber syndrome to illustrate the variety of sonographic findings associated with this disorder and to emphasize the importance of prenatal sonography in helping to establish the correct diagnosis. All six fetuses demonstrated evidence of renal cystic dysplasia. In five cases the kidneys were large and echogenic, demonstrating small discrete cysts in the range of 2 to 5 mm. The remaining fetus demonstrated unilateral renal cystic dysplasia and contralateral renal agenesis. Oligohydramnios was noted in all cases and was evident as early as 14 weeks. An occipital cephalocele was demonstrated on sonography in each case although the size and contents of the cephalocele varied significantly. Two fetuses, both in the same family, also demonstrated a cystic mass in the posterior fossa and partial absence of the cerebellum consistent with a Dandy-Walker variant or cerebellar hypoplasia. The concurrence of marked oligohydramnios and bilateral severe renal anomalies should initiate a search for anomalies of the central nervous system indicative of the Meckel-Gruber syndrome. Recurrence of Meckel-Gruber syndrome may be evaluated as soon as 14 weeks, but it may not be reliably excluded until 20 weeks.

  20. Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family Presentation

    Directory of Open Access Journals (Sweden)

    Humberto Perera Navarro

    2007-05-01

    Full Text Available The Duchenne muscular dystrophy is one of the most frequent hereditary myopathies that exist. It is characterized by degeneration of the muscle skeletal fibers which produce handicap in the first decade of life bringing about death due to cardiac or respiratory failure. The responsible gene of the disease is known as DMD and it is located in the X chromosome shorter arm. A family history is presented in which the pregnant woman who is the sick patient’s sister asks for a prenatal diagnosis. An indirect molecular study was performed with the STR-50 polymorphic marker. After the analysis of the results in which the lab methodology was applied, the fetus was found to be sick and the family decided to interrupt the pregnancy.

  1. Prenatal diagnosis of an autosomal translocation with regular trisomy 21.

    Science.gov (United States)

    Tunca, Yusuf; Deveci, M Salih; Koc, Altug; Kaya, Halide; Alanbay, Ibrahim; Coksuer, Hakan; Dede, Murat

    2013-06-01

    The coincidence of trisomy 21 and a structural rearrangement is very rare, and even it has not been reported as a prenatal diagnosis yet. In this article, we present an autosomal translocation carrier fetus with trisomy 21: 47,XX,+21, t(3;8)(p21;q24). Although the coincidence of reciprocal translocation and trisomy may be seen in reciprocal translocation carrier families, de novo cases are extremely rare. The presented case is diagnosed by amniocentesis, which was performed because of abnormal fetal ultrasonographic findings and increased trisomy 21 risk at maternal serum screening test. The postmortem pathologic examination of the fetus revealed that the findings of hypertelorism and right lung with two lobes are interesting novel findings of our cases associated with the breakpoints 3p21 and 8q24.

  2. Epsilon Haemoglobin Specific Antibodies with Applications in Noninvasive Prenatal Diagnosis

    Science.gov (United States)

    Sørensen, Morten Dræby; Gonzalez Dosal, Regina; Jensen, Kim Bak; Christensen, Britta; Kølvraa, Steen; Jensen, Uffe Birk; Kristensen, Peter

    2009-01-01

    Invasive procedures for prenatal diagnosis are associated with increased risk of abortion; thus, development of noninvasive procedures would be beneficial. Based on the observation that embryonic nucleated red blood cell (NRBC) crosses the placenta and enters the circulation of pregnant women, the ability to identify such cell would allow development of such procedures. Identification of NRBCs in blood samples would be possible provided that specific antibodies are available. Here we have isolated recombinant antibodies using phage display. From the panel of antibody fragments specifically recognising ε-Hb, one was chosen for further characterization, DAb1. DAb1 binds to ε-Hb both in Western blots and immunocytochemistry. Several ε-Hb positive cells were detected in a blood sample taken as postchorionic villus sampling (CVS). To evaluate the sensitivity of the method, K562 cells (which express ε-Hb) were spiked in a blood sample followed by staining in solution and FACS analysis. PMID:19636421

  3. Epsilon Haemoglobin Specific Antibodies with Applications in Noninvasive Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Morten Dræby Sørensen

    2009-01-01

    Full Text Available Invasive procedures for prenatal diagnosis are associated with increased risk of abortion; thus, development of noninvasive procedures would be beneficial. Based on the observation that embryonic nucleated red blood cell (NRBC crosses the placenta and enters the circulation of pregnant women, the ability to identify such cell would allow development of such procedures. Identification of NRBCs in blood samples would be possible provided that specific antibodies are available. Here we have isolated recombinant antibodies using phage display. From the panel of antibody fragments specifically recognising ε-Hb, one was chosen for further characterization, DAb1. DAb1 binds to ε-Hb both in Western blots and immunocytochemistry. Several ε-Hb positive cells were detected in a blood sample taken as postchorionic villus sampling (CVS. To evaluate the sensitivity of the method, K562 cells (which express ε-Hb were spiked in a blood sample followed by staining in solution and FACS analysis.

  4. Posterior fossa malformations: main features and limits in prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Garel, Catherine [Hopital d' Enfants Armand-Trousseau, Department of Radiology, Paris (France)

    2010-06-15

    Posterior fossa (PF) malformations are commonly observed during prenatal screening. Their understanding requires knowledge of the main steps of PF development and knowledge of normal patterns in US and MR imaging. The vast majority of PF malformations can be strongly suspected by acquiring a midline sagittal slice and a transverse slice and by systematically scrutinizing the elements of the PF: cerebellar vermis, hemispheres, brainstem, fourth ventricle, PF fluid spaces and tentorium. Analysis of cerebellar echogenicity and biometry is also useful. This review explains how to approach the diagnosis of the main PF malformations by performing these two slices and answering six key questions about the elements of the PF. The main imaging characteristics of PF malformations are also reviewed. (orig.)

  5. Screening of potential biomarkers for prenatal diagnosis of trisomy 21.

    Science.gov (United States)

    Ma, Ke; Li, Feng; Yu, Yang; Li, Haibo

    2017-05-01

    We aimed to identify key genes located on chromosome 21 as potential biomarkers for prenatal diagnosis of trisomy 21 (Ts21). The microarray data of GSE48051, including 10 cultivated amniocyte samples with Ts21 and 9 controls with normal euploid constitution, was obtained from Gene Expression Omnibus database. The differentially expressed genes (DEGs) in cultivated amniocyte samples with Ts21 compared to normal controls were screened using limma package. Then, we performed GO enrichment analysis using DAVID and chromosomal location of DEGs based on the information of the University of California Santa Cruz (UCSC) Genome Browser Database. Finally, protein-protein interaction (PPI) network analysis was performed using STRING. Total 155 DEGs in cultivated amniocyte samples with Ts21 were identified, including 89 up- and 66 down-regulated DEGs. The over-represented GO terms of DEGs were mainly related with apoptosis, programmed cell death and cell death. In total, 13 DEGs were located on chromosome 21, thereinto, only 6 DEGs were included into the PPI network, including superoxide dismutase 1 (SOD1), phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), downstream neighbour of SON (DONSON), ATP synthase, H + transporting, mitochondrial F1 complex, O subunit (ATP5O), chromatin assembly factor 1, subunit B (p60) (CHAF1B) and proteasome (prosome, macropain) assembly chaperone 1 (PSMG1). Our results suggest that SOD1, GART, DONSON, ATP5O, CHAF1B and PSMG1 may play important roles in the pathogenesis of Down syndrome and may serve as potential biomarkers for prenatal diagnosis of Ts21.

  6. [The role of fetal echocardiography in the prenatal diagnosis of aneuploidy based upon prenatally diagnosed patau syndrome fetuses (case analysis)].

    Science.gov (United States)

    Janiak, Katarzyna; Kaczmarek, Piotr; Krasoń, Aneta; Nowicki, Grzegorz; Piotrowicz, Małgorzata; Respondek-Liberska, Maria

    2002-07-01

    Assessment of usefulness of the fetal echocardiography and genetic sonography in prenatal diagnosis trisomy 13 (retrospective analysis). Between 1994-1999 at the Department for Diagnosis of Congenital Malformation at the Institute of PPMH in 11 fetuses with Patau Syndrome ultrasound and echocardiography examination were performed. In our study the most of cases come from low risk of pregnant women. Fetal heart defect was the most common anomaly diagnosed prenatally in fetuses with Patau Syndrome (7/11), the second one were central nervous system anomalies (6/11) and genitourinary system anomalies (6/11).

  7. [Cocaine and trisomy 8 associated with prenatal diagnosis of corpus callosum agenesis].

    Science.gov (United States)

    Gonzales, E; Caeymaex, L; Aboura, A; Vial, M; De Laveaucoupet, J; Labrune, P; Tachdjian, G

    2005-12-01

    We report the case of a newborn presenting an agenesis of corpus callosum (ACC) discovered in the prenatal period and initially related to cocaine exposure during the first trimester of gestation. The cytogenetic analysis revealed a trisomy 8 mosaicism. The putative role of prenatal cocaine exposure and mosaicism for chromosome 8 in ACC are discussed. This report emphasizes the specific analysis of chromosome 8 by using fluorescence in situ hybridization as a complement to routine cytogenetic analysis for prenatal diagnosis of ACC.

  8. Prenatal Diagnosis of Cloacal Exstrophy: A Case Report and Differential Diagnosis with a Simple Omphalocele

    Directory of Open Access Journals (Sweden)

    Ching-Yu Chou

    2015-03-01

    Full Text Available Cloacal exstrophy is a rare congenital disorder that may lead to mortality and morbidity. Although the prenatal diagnosis of cloacal exstrophy can be made by a midtrimester ultrasound, it is difficult to differentiate it from a simple omphalocele that can be corrected completely by surgery without morbidity. We reported a case with cloacal exstrophy and reviewed previous literature on differentiating it from an omphalocele. A 33-year-old, pregnant female visited our outpatient center for prenatal care at the 22nd gestational week. The midtrimester ultrasound showed fetal anomalies including a protruding mass from umbilicus, absence of bladder, ambiguous genitalia, and bilateral renal hydronephrosis. The parents received prenatal genetic counseling and decided to continue the pregnancy. A female baby was delivered at the 37th gestational week via vaginal delivery, and cloacal exstrophy without omphalocele was diagnosed. Cloacal exstrophy is a complicated congenital disorder that should be differentiated from a simple omphalocele. Prenatal counseling and postnatal care in a tertiary medical center are important for parents and the fetus, respectively.

  9. Is a prenatal diagnosis detrimental to the survival of a fetus with trisomy 18?

    Science.gov (United States)

    Morris, Joan K

    2016-04-01

    As trisomy 18 is so rare any individual study is unlikely to have a sufficient number of cases to examine whether a prenatal diagnosis is advantageous or detrimental to the survival of these infants. Estimates of survival in prenatally diagnosed live births have been obtained by combining data from individual hospitals, whereas estimates of survival in postnatally diagnosed live births have been obtained from large population studies linking cytogenetic registers to national mortality registers. The estimates of survival are often lower in the prenatally diagnosed series. However, comparing estimates from these two different sources is not valid; both sources are subject to different biases. At present, there is insufficient information available to indicate that receiving a prenatal diagnosis of trisomy 18 is detrimental to the survival of a foetus with trisomy 18. A prenatal diagnosis does enable the parents and clinicians time to reach a consensus on how best to care for the baby.

  10. Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

    Directory of Open Access Journals (Sweden)

    Javier Sánchez

    2012-01-01

    Full Text Available Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases have been reported of prenatal diagnosis of mosaicism monosomy/ring chromosome 14. We describe the prenatal diagnosis of a case of chromosomal mosaicism, a cell line with ring chromosome 14, r(14, and a second cell line with monosomy 14, in a fetus with aortic coarctation and chamber asymmetry. This is the first case of a prenatal diagnosis associating mosaicism with ring chromosome 14, monosomy 14, and fetal cardiopathy. We identified the exact breakpoint in ring chromosome 14 in IGH locus, which may provide further insight into the mode of ring formation as well as prenatal findings.

  11. Prenatal diagnosis of isolated right pulmonary agenesis using sonography alone: case study and systematic literature review.

    Science.gov (United States)

    Meller, Cesar H; Morris, R Katie; Desai, Tarak; Kilby, Mark D

    2012-12-01

    Pulmonary agenesis is a rare congenital anomaly, estimated to complicate around 1 per 15,000 pregnancies, in which there is complete absence or severe hypoplasia of one or both lungs, frequently associated with other abnormalities. A prospective prenatal diagnosis is a challenge, and a substantial proportion of cases are diagnosed by fetal magnetic resonance imaging, postnatal computed tomography, or postmortem. Thus, there are only a few reported cases of prenatal diagnosis in the literature. We report the prenatal diagnosis of isolated right lung agenesis diagnosed with sonography alone at a relatively early gestational age. We also present a systematic review of the literature for this condition to accompany this case study.

  12. Chromosomal mosaicism of extraembryonic cells detected by prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Zolotukhina, T.V.; Shilova, N.V. [Institute of Clinical Genetics, Moscow (Russian Federation)

    1995-09-01

    Data on detection of chromosomal mosaicism in amniotic cells and chorionic villi obtained by prenatal cytogenetic diagnosis are presented. The frequency of chromosomal mosaicism in preparations of amniotic fluid cell culture was 2.6% (6 out of 226), and that in {open_quotes}direct{close_quotes} villus preparations was 1.6% (13 out of 774). The necessity to perform an additional analysis of other fetal cells or neonatal lymphocytes to specify the diagnosis was shown. The analysis of the outcome of pregnancies during which chromosomal mosaicism in the extraembryonic cells was detected indicates that these women form a high-risk group, both genetically and obstetrically; in only 8 out of 19 cases did pregnancies end in normal deliveries at term; in three cases, spontaneous abortions occurred at 16-31 weeks of gestation; in three cases, the pregnancies were terminated due to fetal chromosomal aberrations in nonmosaic form; the outcome of pregnancy in five cases was preterm delivery of an underweight newborn. 26 refs., 1 tab.

  13. Pre-natal counselling and diagnosis in Down's syndrome.

    Science.gov (United States)

    Papp, Z

    1973-01-01

    Today Down's syndrome is recognizable on the basis of its clinical c haracteristics in infants. According to present knowledge, Down's syndr ome can be classified cytogenetically into 4 groups: regular trisomy, translocational trisomy, mosaic forms and double trisomies. Knowledge of the karyotype is used in genetic counselling for further prevention of Down's syndrome in unborn fetuses. Prenatal chromosome analyses, a form of intrauterine diagnosis, has been used in Hungary since 1968. The average incidence of Down's syndrome has been estimated at 1.5:1000 among newborns. The mother's age and genetic deviations are determinant s in whether or not the syndrome will occur. The risk of Down's syndrome increases from 1 per 1000 in mothers under 30 to 10-20 per 1000 in mothers over 45. Since risk increases with the mother's age amniocen tesis should be routinely performed in pregnancies of older mothers. In the case of trisomy verified by intrauterine diagnosis, termination of pregnancy is advised. If population cytogenetic investigations are practiced, the carriers of the balanced translocation will be revealed and within a few years there will be only 3 indications for amniocentesis: 1) in cases of mother's advanced age, 2) in cases of bala nced translocation carrier and 3) in cases of a previously affected chil d disregarding the parental karyotypes. The expected risk of Down's syn drome predictable from available data if higher than 1-5% justifies intr auterine chromosome analysis.

  14. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing.

    NARCIS (Netherlands)

    Chen, E.Z.; Chiu, R.W.; Sun, H.; Akolekar, R.; Chan, K.C.; Leung, T.Y.; Jiang, P.; Zheng, Y.W.; Lun, F.M.; Chan, L.Y.; Jin, Y.; Go, A.T.; Lau, E.T; To, W.W.; Leung, W.C.; Tang, R.Y.; Au-Yeung, S.K.; Lam, H.; Kung, Y.Y.; Zhang, X.; Vugt, J.M.G. van; Minekawa, R.; Tang, M.H.; Wang, J.; Oudejans, C.B.; Lau, T.K.; Nicolaides, K.H.; Lo, Y.M.

    2011-01-01

    Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due t

  15. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing.

    NARCIS (Netherlands)

    Chen, E.Z.; Chiu, R.W.; Sun, H.; Akolekar, R.; Chan, K.C.; Leung, T.Y.; Jiang, P.; Zheng, Y.W.; Lun, F.M.; Chan, L.Y.; Jin, Y.; Go, A.T.; Lau, E.T; To, W.W.; Leung, W.C.; Tang, R.Y.; Au-Yeung, S.K.; Lam, H.; Kung, Y.Y.; Zhang, X.; Vugt, J.M.G. van; Minekawa, R.; Tang, M.H.; Wang, J.; Oudejans, C.B.; Lau, T.K.; Nicolaides, K.H.; Lo, Y.M.

    2011-01-01

    Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due t

  16. Resident Fathers' Pregnancy Intentions, Prenatal Behaviors, and Links to Involvement with Infants

    Science.gov (United States)

    Bronte-Tinkew, Jacinta; Ryan, Suzanne; Carrano, Jennifer; Moore, Kristen A.

    2007-01-01

    Using data from the Early Childhood Longitudinal Study-Birth Cohort, 9-month resident father surveys (N= 6,816), this paper examines the association between male pregnancy intentions, prenatal behaviors, and postbirth father involvement. Findings indicate that prenatal behaviors are associated with five domains of father involvement. Men who did…

  17. Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies.

    Science.gov (United States)

    Hou, Wen-Chien; Chen, Chih-Ping; Hwang, Kwei-Shuai; Chen, Ying-Chieh; Lai, Yu-Ju; Tien, Chau-Yang; Su, Her-Young

    2014-12-01

    We describe a prenatal ultrasonography diagnosis of omphalocele and symbrachydactyly in a fetus and review the literature on prenatal diagnosis of 9p terminal chromosomal deletions. A 31-year-old woman (gravida 3, para 1) was referred for genetic counseling because a fetal omphalocele had been detected. Prenatal ultrasonography at 17+ weeks of gestational age revealed a singleton female fetus with biometry equivalent to 18 weeks with an omphalocele. In addition, symbrachydactyly was also noted in the right arm; the wrist bones as well as the metacarpals were missing. A chromosomal study was arranged for a congenital anomaly involving omphalocele. We obtained Giemsa-banded chromosomes from fetal tissue cells, and an abnormal male karyotype with a terminal deletion of the short arm of chromosome 9 at band 9p13 was noted. After delivery, the fetus showed omphalocele, symbrachydactyly, trigonocephaly, sex reversal, a long philtrum, low-set ears, telecanthus, and a frontal prominence. Prenatal diagnosis of abnormal ultrasound findings with omphalocele and symbrachydactyly should include the differential diagnosis of a chromosome 9p deletion. Copyright © 2014. Published by Elsevier B.V.

  18. Nonuse of Prenatal Care: Implications for Social Work Involvement.

    Science.gov (United States)

    Bedics, Bonnie C.

    1994-01-01

    Interviewed 44 women who did not obtain prenatal care. Identified four categories of reasons for nonuse: women's lifestyles differed from mainstream; stressful events took priority over prenatal care; women attempted to receive care but were discouraged, turned away, or given poor information by service delivery system personnel; and women did not…

  19. [From diagnosis to decision--decision processes of women in the context of prenatal diagnosis].

    Science.gov (United States)

    Baldus, M

    2001-01-01

    Prenatal diagnosis is a growth industry. The constant introduction of new prenatal tests poses great challenges to prospective parents. In Germany, guidelines for prenatal care include an early nuchal-translucency-sonogram as a routine screening for down syndrome. Developer of this screening predict a 90% discovery rate. This rate can be achieved through the combination of early maternal serum examinations, computer assisted risk calculation and the nuchal-translucency measurement. The extensive use of diverse new technologies is driven by two forces; first, the parents' fear of giving birth to a child with a disability, and second, the offensive marketing strategies by the test-making industry. The information that these tests can yield is vast, yet parents' range of choices in response to these test results remain very limited. After a battery of diagnostic tests, parents confronted with the diagnosis of down syndrome can choose only between continuing or terminating the pregnancy. In the future, more and more women and their partners will be confronted with such a difficult decision. Adequate professional counseling is needed to help parents cope with the critical life event of being told a positive test result. Solutions have to be developed on an individual basis and need to be grounded on the parents' needs. Informing parents of a positive diagnosis can be a challenging moment in professional life. The professional needs to act with sensitivity and competence. The informations he or she provides have to been well balanced. It is necessary to develop quality assurance standards for counseling, diagnosis and crisis intervention.

  20. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing.

    Directory of Open Access Journals (Sweden)

    Eric Z Chen

    Full Text Available Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due to the lack of data from a large sample set. We studied 392 pregnancies, among which 25 involved a trisomy 13 fetus and 37 involved a trisomy 18 fetus, by massively parallel sequencing. By using our previously reported standard z-score approach, we demonstrated that this approach could identify 36.0% and 73.0% of trisomy 13 and 18 at specificities of 92.4% and 97.2%, respectively. We aimed to improve the detection of trisomy 13 and 18 by using a non-repeat-masked reference human genome instead of a repeat-masked one to increase the number of aligned sequence reads for each sample. We then applied a bioinformatics approach to correct GC content bias in the sequencing data. With these measures, we detected all (25 out of 25 trisomy 13 fetuses at a specificity of 98.9% (261 out of 264 non-trisomy 13 cases, and 91.9% (34 out of 37 of the trisomy 18 fetuses at 98.0% specificity (247 out of 252 non-trisomy 18 cases. These data indicate that with appropriate bioinformatics analysis, noninvasive prenatal diagnosis of trisomy 13 and trisomy 18 by maternal plasma DNA sequencing is achievable.

  1. Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers.

    OpenAIRE

    1989-01-01

    The close genetic linkage between the loci for apolipoprotein CII (ApoCII) and myotonic dystrophy makes presymptomatic detection and prenatal diagnosis feasible. We report three years' service experience of providing presymptomatic detection and prenatal diagnosis for myotonic dystrophy in 99 families. Careful clinical study of older family members remains important. The introduction of new probes (CKMM and BCL4) has helped to solve the problem of uninformativeness owing to unhelpful genotype...

  2. Prenatal diagnosis of open spina bifida in Emilia-Romagna.

    Science.gov (United States)

    Ghi, Tullio; Cocchi, Guido; Conti, Letizia; Pacella, Giuseppina; Youssef, Aly; Rizzo, Nicola; Pilu, Gianluigi

    2015-01-01

    To report recent data on the epidemiology of pregnancies affected by open spina bifida in the Emilia-Romagna region of Italy. All cases of open spina bifida diagnosed in the Emilia-Romagna region between 2001 and 2011 and reported to the IMER regional registry were included in the study group. The pregnancy outcome was retrospectively assessed. In the study period out of 390,978 babies born in Emilia-Romagna 126 cases of open spina bifida were reported to the IMER registry, resulting in a global prevalence of 3.2 per 10,000 births. Prenatal diagnosis was achieved in the vast majority of these cases (105/126; 83.3%) and in a great proportion of those women (85/105; 80.9%) who opted for termination of pregnancy. In a wide region of northern Italy where ultrasound anomaly scan is routinely offered to the general population, the vast majority of cases of open spina bifida are diagnosed antenatally and terminated electively. © 2015 S. Karger AG, Basel.

  3. Prenatal diagnosis of fetal lung maturity by magnetic resonance imaging

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    Itoh, Hitoshi; Kakizaki, Dai; Nagai, Atsushi; Akutagawa, Osamu; Itokazu, Isao; Iso, Kazuo; Abe, Kimihiko; Takayama, Masaomi [Tokyo Medical Coll. (Japan); Nohira, Tomoyoshi [Tokyo Medical Coll. (Japan). Hachioji Medical Center

    2003-04-01

    The objective of this study was to evaluate the usefulness of magnetic resonance imaging (MRI) for prenatal diagnosis of fetal lung maturity. The subjects comprised 28 singleton fetuses, and underwent MRI in the third trimester (32.71{+-}3.00 wks). After obtaining axial and coronal scout images of the whole pelvis, we obtained a transverse image, a coronal image and a sagittal image of fetuses with a half-Fourier acquisition single-shot turbo-spin-echo (HASTE) sequence, determined the intensity level of the fetal lung (right lung intensity level: RL, left lung intensity level: LL). The intensity level of background outside of the maternal body was obtained as the control intensity level (CL). The contrast value (CV) of each fetal lung was calculated by the numerical formula; CV=(RL or LL-CL)/CL. We evaluated the changes of CV during the third trimester and relationship between CV and gestational weeks. There was no significant correlation between gestational weeks and RL (P=.3887), LL (P=.2367). There was a significant increase in both right and left CV (RCV=(RL-CL)/CL: P=.0108, LCV=(LL-CL)/CL: P=.0165) with gestational age. It was suggested that the fetal lung maturation could be diagnosed with HASTE using the CV formula. (author)

  4. Prenatal Diagnosis and Pathology of Laryngeal Atresia in Congenital High Airway Obstruction Syndrome

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    Piya Chaemsaithong

    2012-01-01

    Full Text Available Congenital high airway obstruction syndrome is a rare but life-threatening condition. Therefore, prenatal diagnosis is important. The obstruction can be due to laryngeal/tracheal atresia or external compression. While a differential diagnosis with congenital cystic adenomatoid malformation (CCAM type III may be difficult, it is still possible with ultrasonography. In this study, we report a case of bilateral echogenic lungs with hydrops fetalis. After the prenatal diagnosis of laryngeal atresia, the couple opted to have an elective termination of pregnancy performed at 20 weeks of gestation. The diagnosis was confirmed by a complete pathological examination.

  5. Pregnancy outcome and prenatal diagnosis of sex chromosome abnormalities in Hawaii, 1986-1999.

    Science.gov (United States)

    Forrester, Mathias B; Merz, Ruth D

    2003-06-15

    Sex chromosome abnormalities such as Turner syndrome, Klinefelter syndrome, triple X syndrome, and 47,XYY can be prenatally diagnosed and electively terminated. This investigation examined the pattern of pregnancy outcome of prenatally and postnatally diagnosed sex chromosome abnormalities in Hawaii during 1986-1999 and calculated prenatal diagnosis and subsequent elective termination rates for various factors. Data were obtained from a statewide population-based birth defects registry. The study included 205 detected sex chromosome abnormality cases of which 93 (45%) were live births, 18 (9%) late fetal deaths, 37 (18%) early fetal deaths, and 57 (28%) elective terminations. Pregnancy outcome distribution varied by type of sex chromosome abnormality. Prenatal diagnosis was reported for 132 (64%) of the cases, of which 46 (35%) were subsequently electively terminated. Eleven cases were elective terminations where the sex chromosome abnormality was diagnosed after delivery. Elective termination rates subsequent to prenatal diagnosis differed by sex chromosome abnormality, being highest for 45,X (54%), followed by 47,XXY (46%), 47,XYY (29%), and 47,XXX (17%). Although prenatal diagnosis rates increased significantly over the time period (P = 0.006), the subsequent elective termination rate declined slightly, albeit the trend was not statistically significant (P = 0.440). The prenatal diagnosis rate was highest for the 35-39-year maternal age group, although this age group did not have subsequent elective termination rates higher than other maternal age groups. Pregnancy outcome distribution and prenatal diagnosis and subsequent elective termination of sex chromosome abnormalities appeared to depend on the type of sex chromosome abnormality, year of delivery, and maternal age.

  6. Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.

    Science.gov (United States)

    Wigby, Kristen; D'Epagnier, Cheryl; Howell, Susan; Reicks, Amy; Wilson, Rebecca; Cordeiro, Lisa; Tartaglia, Nicole

    2016-11-01

    Triple X syndrome (47, XXX) occurs in approximately 1:1,000 female births and has a variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47, XXX are increasing due to non-invasive prenatal genetic testing. Previous studies suggest that prenatal diagnosed females have better neurodevelopmental outcomes. This cross-sectional study describes diagnosis, physical features, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Evaluation included review of medical and developmental history, physical exam, cognitive, and adaptive testing. Medical and developmental features were compared between the prenatal and postnatal diagnosis groups using rate calculations and Fisher's exact test. Cognitive and adaptive tests scores were compared using t-tests. Seventy-four females age 6 months-24 years (mean 8.3 years) participated. Forty-four (59.5%) females were in the prenatal diagnosis group. Mean age of postnatal diagnosis was 5.9 years; developmental delay was the most common indication for postnatal genetic testing. Common physical features included hypertelorism, epicanthal folds, clinodactyly, and hypotonia. Medical problems included dental disorders (44.4%), seizure disorders (16.2%), genitourinary malformations (12.2%). The prenatal diagnosis group had higher verbal (P < 0.001), general ability index (P = 0.004), and adaptive functioning scores (P < 0.001). Rates of ADHD (52.2% vs. 45.5%, P = 0.77) and learning disabilities (39.1% vs. 36.3%, P = 1.00) were similar between the two groups. These findings expand on the phenotypic features in females with Triple X syndrome and support that prenatally ascertained females have better cognitive and functional outcomes. However, prenatally diagnosed females are still at risk for neurodevelopmental disorders. Genetic counseling and treatment recommendations are summarized. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  7. BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

    Science.gov (United States)

    Martínez-Conejero, José Antonio; Serra, Vicente; Olmo, Inés; Lara, Coral; Simón, Carlos

    2014-01-01

    The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF) or chorionic villus (CV) samples based on BACs-on-Beads (BoBs) technology and to compare the results with classical karyotyping by Giemsa banding (G-banding) of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH) was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples. PMID:24795887

  8. BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Sandra García-Herrero

    2014-01-01

    Full Text Available The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF or chorionic villus (CV samples based on BACs-on-Beads (BoBs technology and to compare the results with classical karyotyping by Giemsa banding (G-banding of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples.

  9. BACs-on-Beads technology: a reliable test for rapid detection of aneuploidies and microdeletions in prenatal diagnosis.

    Science.gov (United States)

    García-Herrero, Sandra; Campos-Galindo, Inmaculada; Martínez-Conejero, José Antonio; Serra, Vicente; Olmo, Inés; Lara, Coral; Simón, Carlos; Rubio, Carmen

    2014-01-01

    The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF) or chorionic villus (CV) samples based on BACs-on-Beads (BoBs) technology and to compare the results with classical karyotyping by Giemsa banding (G-banding) of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH) was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples.

  10. Fetal MRI in Prenatal Diagnosis of CNS Abnormalities

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2009-02-01

    Full Text Available The value of fetal MRI (fMRI compared to ultrasound in the prenatal detection of CNS abnormalities and impact on counseling were determined in 25 pregnant women examined at University of Dusseldorf, Germany.

  11. Time of HIV Diagnosis and Engagement in Prenatal Care Impact Virologic Outcomes of Pregnant Women with HIV.

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    Florence M Momplaisir

    Full Text Available HIV suppression at parturition is beneficial for maternal, fetal and public health. To eliminate mother-to-child transmission of HIV, an understanding of missed opportunities for antiretroviral therapy (ART use during pregnancy and HIV suppression at delivery is required.We performed a retrospective analysis of 836 mother-to-child pairs involving 656 HIV-infected women in Philadelphia, 2005-2013. Multivariable regression examined associations between patient (age, race/ethnicity, insurance status, drug use and clinical factors such as adequacy of prenatal care measured by the Kessner index which classifies prenatal care as inadequate, intermediate, or adequate prenatal care; timing of HIV diagnosis; and the outcomes: receipt of ART during pregnancy and viral suppression at delivery.Overall, 25% of the sample was diagnosed with HIV during pregnancy; 39%, 38%, and 23% were adequately, intermediately, and inadequately engaged in prenatal care. Eight-five percent of mother-to-child pairs received ART during pregnancy but only 52% achieved suppression at delivery. Adjusting for patient factors, pairs diagnosed with HIV during pregnancy were less likely to receive ART (AOR 0.39, 95% CI 0.25-0.61 and achieve viral suppression (AOR 0.70, 95% CI 0.49-1.00 than those diagnosed before pregnancy. Similarly, women with inadequate prenatal care were less likely to receive ART (AOR 0.06, 95% CI 0.03-0.11 and achieve viral suppression (AOR 0.31, 95% CI 0.20-0.47 than those with adequate prenatal care.Targeted interventions to diagnose HIV prior to pregnancy and engage HIV-infected women in prenatal care have the potential to improve HIV related outcomes in the perinatal period.

  12. Time of HIV Diagnosis and Engagement in Prenatal Care Impact Virologic Outcomes of Pregnant Women with HIV.

    Science.gov (United States)

    Momplaisir, Florence M; Brady, Kathleen A; Fekete, Thomas; Thompson, Dana R; Diez Roux, Ana; Yehia, Baligh R

    2015-01-01

    HIV suppression at parturition is beneficial for maternal, fetal and public health. To eliminate mother-to-child transmission of HIV, an understanding of missed opportunities for antiretroviral therapy (ART) use during pregnancy and HIV suppression at delivery is required. We performed a retrospective analysis of 836 mother-to-child pairs involving 656 HIV-infected women in Philadelphia, 2005-2013. Multivariable regression examined associations between patient (age, race/ethnicity, insurance status, drug use) and clinical factors such as adequacy of prenatal care measured by the Kessner index which classifies prenatal care as inadequate, intermediate, or adequate prenatal care; timing of HIV diagnosis; and the outcomes: receipt of ART during pregnancy and viral suppression at delivery. Overall, 25% of the sample was diagnosed with HIV during pregnancy; 39%, 38%, and 23% were adequately, intermediately, and inadequately engaged in prenatal care. Eight-five percent of mother-to-child pairs received ART during pregnancy but only 52% achieved suppression at delivery. Adjusting for patient factors, pairs diagnosed with HIV during pregnancy were less likely to receive ART (AOR 0.39, 95% CI 0.25-0.61) and achieve viral suppression (AOR 0.70, 95% CI 0.49-1.00) than those diagnosed before pregnancy. Similarly, women with inadequate prenatal care were less likely to receive ART (AOR 0.06, 95% CI 0.03-0.11) and achieve viral suppression (AOR 0.31, 95% CI 0.20-0.47) than those with adequate prenatal care. Targeted interventions to diagnose HIV prior to pregnancy and engage HIV-infected women in prenatal care have the potential to improve HIV related outcomes in the perinatal period.

  13. Dacryocystocele on prenatal ultrasonography: diagnosis and postnatal outcomes

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Young Hwa; Lee, Yu Jin; Song, Mi Jin; Han, Byoung Hee; Lee, Young Ho; Lee, Kyung Sang [Dept. of Radiology, Cheil General Hospital and Women' s Healthcare Center, Catholic Kwandong University College of Medicine, Seoul (Korea, Republic of)

    2015-01-15

    To report the incidence of dacryocystoceles detected by prenatal ultrasonography (US) and their postnatal outcomes and to determine the factors associated with the postnatal persistence of dacryocystoceles at birth. We retrospectively reviewed the prenatal US database at our institution for the period between January 2012 and December 2013. The medical records of women who had fetuses diagnosed with dacryocystocel larger than 5 mm were reviewed for maternal age, gestational age (GA) at detection, size and side of the dacryocystoceles, delivery, and postnatal information, such as GA at delivery, delivery mode, and gender of the neonate. A total of 49 singletons were diagnosed with a dacryocystocele on prenatal US, yielding an overall incidence of 0.43%. The incidence of dacryocystoceles was the highest at the GA of 27 weeks and decreased toward term. Of the 49 fetuses including three of undeter mined gender, 25 (54%) were female. The mean GA at first detection was 31.2 weeks. The dacryocystocele was unilateral in 29 cases, with a mean maximum diameter of 7 mm. Spontaneous resolution at birth was documented in 35 out of 46 neonates (76%), including six with prenatal resolution. Multivariate analysis demonstrated that GA at delivery was a significant predictor of the postnatal persistence of dacryocystoceles (P=0.045). The overall incidence of prenatal dacryocystoceles was 0.43%; the incidence was higher in the early third trimester and decreased thereafter. Prenatal dacryocystoceles resolved in 76% of the patients at birth, and the GA at delivery was a significant predictor of postnatal persistence.

  14. Prenatal Diagnosis of 17p13.1p13.3 Duplication

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    Kirsi Kiiski

    2012-01-01

    Full Text Available We present here the first prenatal diagnosis of 17p13.1p13.3 duplication. 17p13.3 duplication has recently been defined as a new distinctive syndrome with several diagnosed patients. In the current case prenatal chromosome analysis (G-banding performed on cultured amniocytes revealed additional material in chromosome 19p. This was further defined as a chromosome 17p13.1p13.3 duplication by FISH and genomic microarray analysis (GMA. In addition Prenatal BACs-on-Beads (PN_BoBs assay was performed, which detected the duplication clearly. This enables rapid prenatal diagnosis of the duplication for this family in the future.

  15. Prenatal and Early Postnatal Diagnosis of Congenital Toxoplasmosis in a Setting With No Systematic Screening in Pregnancy.

    Science.gov (United States)

    Stajner, Tijana; Bobic, Branko; Klun, Ivana; Nikolic, Aleksandra; Srbljanovic, Jelena; Uzelac, Aleksandra; Rajnpreht, Irena; Djurkovic-Djakovic, Olgica

    2016-03-01

    To determine the risk of congenital toxoplasmosis (CT) and provide early (pre- or postnatal) identification of cases of CT in the absence of systematic screening in pregnancy.I n the presented cross-sectional study, serological criteria were used to date Toxoplasma gondii infection versus conception in 80 pregnant women with fetal abnormalities or referred to as suspected of acute infection, and in 16 women after delivery of symptomatic neonates. A combination of serological, molecular (qPCR), and biological (bioassay) methods was used for prenatal and/or postnatal diagnosis of CT. Most (77.5%) pregnant women were examined in advanced pregnancy. Of all the examined seropositive women (n = 90), infection could not be ruled out to have occurred during pregnancy in 93.3%, of which the majority (69%) was dated to the periconceptual period. CT was diagnosed in 25 cases, of which 17 prenatally and 8 postnatally. Molecular diagnosis proved superior, but the diagnosis of CT based on bioassay in 7 instances and by Western blot in 2 neonates shows that other methods remain indispensable. In the absence of systematic screening in pregnancy, maternal infection is often diagnosed late, or even only when fetal/neonatal infection is suspected. In such situations, use of a complex algorithm involving a combination of serological, biological, and molecular methods allows for prenatal and/or early postnatal diagnosis of CT, but lacks the preventive capacity provided by early maternal treatment.

  16. Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities: a case report

    Institute of Scientific and Technical Information of China (English)

    CHEN Lian; ZHAO Yang-yu; WEI Yuan; WANG Yan; ZHANG Yan; WANG Yong-qing; LIU Jian-ying; YANG Yong; TAN Yan-hong

    2012-01-01

    Anhidrotic ectodermal dysplasia (EDA) is a relatively rare congenital hereditary disease.Because of a reduced number of sweat glands,patients are unable to perspire and consequently suffer from hyperthermia and infection.This is a potential cause of death in childhood.Domestic prenatal diagnosis methods focus on genetic diagnosis.But for some conditions,because of the uncertain molecular pathology,we need other methods to assist to in prenatal diagnosis.Here,we report one case of a new mutation locus which may be associated with EDA and the prenatal diagnosis of EDA by fetal skin bioosv under fetoscopy in mid pregnancy,combined with a review of the literature.

  17. Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Roberts, R.G.; Cole, C.G.; Hart, K.A.; Bobrow, M.; Bentley, D.R. (Guy' s Hospital, London (England))

    1989-01-25

    Carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD and BMD) by DNA methods uses Southern blotting to detect either the informative segregation of restriction fragment length polymorphisms (RFLPs) or the absence of restriction fragments in affected males. Recently, the use of the polymerase chain reaction (PCR) for rapid detection of deletions in some affected males was reported eliminating the need for Southern blotting of 37% of all samples. This approach is not applicable, however, to non-deletion cases or for carrier diagnosis. The authors have used PCR for rapid analysis of intragenic RFLPs to permit both carrier and prenatal diagnosis in the majority of familial cases.

  18. First-trimester prenatal diagnosis of Ellis–van Creveld syndrome

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    Chih-Ping Chen

    2012-12-01

    Conclusion: Prenatal diagnosis of an endocardial cushion defect with postaxial polydactyly should include a differential diagnosis of EvC syndrome in addition to short rib–polydactyly syndrome, Bardet–Biedl syndrome, orofaciodigital syndrome, Smith–Lemli–Opitz syndrome, and hydrolethalus syndrome.

  19. Prenatal diagnosis as a tool and support for eugenics: myth or reality in contemporary French society?

    Science.gov (United States)

    Gaille, Marie; Viot, Géraldine

    2013-02-01

    Today, French public debate and bioethics research reflect an ongoing controversy about eugenics. The field of reproductive medicine is often targeted as pre-implantation genetic diagnosis (PGD), prenatal diagnosis, and prenatal detection are accused of drifting towards eugenics or being driven by eugenics considerations. This article aims at understanding why the charge against eugenics came at the forefront of the ethical debate. Above all, it aims at showing that the charge against prenatal diagnosis is groundless. The point of view presented in this article has been elaborated jointly by a geneticist and a philosopher. Besides a survey of the medical, bioethical, philosophical and social sciences literature on the topic, the methodology is founded on a joint analysis of geneticist's various consults. Evidence from office visits demonstrated that prenatal diagnosis leads to case-by-case decisions. As we have suggested, this conclusion does not mean that prenatal diagnosis is devoid of ethical issues, and we have identified at least two. The first is related to the evaluation of a decision to abort. The second line of ethical questions arises from the fact that the claim for "normality" hardly hides normative and ambiguous views about disability. As a conclusion, ethical dilemmas keep being noticeable in the field of reproductive medicine and genetic counselling, but an enquiry about eugenic tendencies probably does not allow us to understand them in the proper way.

  20. A Non-invasive Prenatal Diagnosis Method: Free Fetal DNA in Maternal Plasma

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    Ebru Dundar Yenilmez

    2013-06-01

    Full Text Available Prenatal diagnosis for genetic diseases nowadays is still carried out by invasive procedures such as chorionic villus sampling, amniocentesis or cordocentesis. These techniques, however, accompanied with risk of fetal losses. Non-invasive prenatal diagnosis tests based on the analysis of fetal DNA in maternal plasma have potential to be a safer alternative to invasive methods. Non-invasive prenatal diagnosis has been a long-standing research theme in prenatal medicine. The discovery of cell-free fetal nucleic acids in maternal plasma in 1997 has opened new possibilities for noninvasive prenatal diagnosis. The measurement and detection of fetal DNA in maternal plasma and serum has led to clinical applications for the identification of fetal aneuploidies, pre-eclamptic pregnancies, noninvasive diagnosis of fetal Rhesus D genotype and some single gene disorders. The detection of fetal DNA sequences is a reality and could reduce the risk of invasive techniques for certain fetal disorders in the near future. [Archives Medical Review Journal 2013; 22(3.000: 317-334

  1. Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes.

    Science.gov (United States)

    Palacios-Marqués, Ana; Oliver, Cecilia; Martín-Bayón, Tina; Martinez-Escoriza, Juan Carlos

    2013-06-03

    Caudal regression or caudal dysplasia sequence (CDS) is a rare congenital malformation, which includes a wide spectrum of musculoskeletal abnormalities involving the lumbosacral spine, pelvis and lower limbs. It can be associated to visceral defects in various degrees. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Women with diabetes who are dependent on insulin are 200-400 times more likely to have a child with caudal regression, making CDS the most characteristic fetal abnormality of diabetic embryopathy. Prenatal diagnosis is possible by ultrasonographic examination. The sonographic findings include abrupt interruption of the lumbar spine and 'Buddha or frog position' of the lower limbs. MRI has demonstrated the level of the vertebral anomalies as well as the associated abnormalities and this is crucial because the prognosis of this condition depends on the severity of the lesion and the presence of associated disorders.

  2. Prenatal Ultrasound Diagnosis of Congenital Talipes Equinovarus in Bogota (Colombia) Between 2003 and 2012.

    Science.gov (United States)

    Rosselli, Pablo; Nossa, Sergio; Huérfano, Elina; Betancur, Germán; Guzmán, Yuli; Castellanos, Cristal; Morcuende, Jose

    2015-01-01

    Congenital Talipes Equinovarus (CTEV) or clubfoot is one of the most common congenital abnormalities(1,2). Early diagnosis by means of ultrasonography allows an opportune intervention and improves the deformity's correction prognosis. To describe patients diagnosed with CTEV by means of prenatal sonographies between 2003 and 2012 in Bogotá (Colombia) at both the Institute de Ortopedia Infantil Roosevelt (IOIR) and one of the authors' private office. A descriptive, retrospective study on the focus population was made. The equality of the data of the quantitative variables in distance measure was analysed by the Kolmogorov-Smirnov test. For the variables "prenatal diagnoses" and "days from the start of the treatment" the Mann-Whitney U test was used. Finally, an analysis was made by means of the SPSS Statistics software package, version 18.0. 178 patients met the selection criteria. 34.3% of the patients had a prenatal diagnosis by ultrasonography (n=61). Regarding the number of prenatal ultrasounds performed, there were statistically significant differences between the patients with a CTEV prenatal diagnoses and those whose diagnoses came after birth, being higher in the first group (p<0.001). The number of days before the treatment started once the pre or postnatal diagnosis was done was also a subject of study. Significant differences were found in the treatment start between patients with a prenatal diagnosis (mean of 9.9 days) and those diagnosed after birth (mean of 30 days) (p<0.001). prenatal diagnosis by foetal ultrasonography contributes to an early detection of musculoskeletal abnormalities such as CTEV and promotes an early intervention of the patient.

  3. Prenatal 2-dimensional and 3-dimensional ultrasonography diagnosis and autoptic findings of isolated ectopia cordis.

    Science.gov (United States)

    Bianca, S; Bartoloni, G; Auditore, S; Reale, A; Tetto, C; Ingegnosi, C; Pirruccello, B; Ettore, G

    2006-01-01

    Ectopia cordis is a very rare congenital malformation, commonly associated with intracardiac anomalies. It is due to a defect in fusion of the anterior chest wall resulting in an extrathoracic location of the heart. We report prenatal 2-dimensional (2D) and 3D ultrasonography diagnosis and postnatal autoptic findings of an isolated ectopia cordis with tricuspid atresia. Ectopia cordis prenatal diagnosis is easily made with ultrasound by visualizing the heart outside the thoracic cavity. 3D ultrasonography may add more detailed visualization of the heart anomaly even if the 2D ultrasonography alone permits the prenatal diagnosis. Obstetrical management should include a careful search for associated anomalies, especially cardiac, and the assessment of fetal karyotype. As this is considered a sporadic anomaly, the recurrence risk is low and no genetic origin is known.

  4. Prenatal diagnosis of spinal muscular atrophy in Chinese by genetic analysis of fetal cells

    Institute of Scientific and Technical Information of China (English)

    WU Ting; DING Xin-sheng; LI Wen-lei; YAO Juan; DENG Xiao-xuan

    2005-01-01

    Background Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of anterior horn cells of the spinal cord.The survival motor neuron gene is SMA-determining gene deleted in approximately 95% of SMA patients.This study was undertaken to predict prenatal SMA efficiently and rapidly in families with previously affected child.Methods Prenatal diagnosis was made in 8 fetuses with a family history of SMA.Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used for the detection of the survival motor neuron gene.Results The survival motor neuron gene was not found in 6 fetuses, ruling out the diagnosis of SMA.Two fetuses were detected positive and the pregnancies were terminated.Conclusion Our method is effective and convenient in prenatal diagnosis of SMA.

  5. Prenatal Diagnosis of Congenital Cystic Adenomatoid Malformations: Evolution and Outcome

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    Wei-Shiu Chen

    2009-09-01

    Conclusion: The outcomes of the prenatally detected CCAMs were good in our cases. If the CCAM is not complicated by hydrops fetalis, maintaining the pregnancy with continuing management seems to be a reasonable recommendation. Despite antenatal resolution of CCAM on ultrasound, postnatal examination with chest radiography and computed tomography scan is necessary.

  6. Prenatal diagnosis of congenital malformations in 500 pregnancies

    NARCIS (Netherlands)

    Leschot, N.J.; Treffers, P.E.; Verjaal, M.; Weduwen, J.J. der; Bennebroek Gravenhorst, J.; Coelingh Bennink, H.J.T.

    1979-01-01

    The organization, techniques used and diagnostic findings of 500 prenatal diagnoses are reported in detail. In 15 cases the pregnancy was terminated because of abnormal laboratory findings. Follow-up of the remaining pregnancies revealed a perinatal mortality of 1.7%, and the risk of an abortion ind

  7. Prenatal molecular diagnosis of beta-thalassemia: report on the first two cases in Romania.

    Science.gov (United States)

    Talmaci, R; Coriu, D; Dan, L; Cherry, L; Gavrila, L; Barbarii, L; Dogaru, M; Vladareanu, F; Vladareanu, R; Peltecu, G; Colita, D

    2008-01-01

    Thalassaemia major is a classical example of a disease that can be prevented by prenatal diagnosis. In Romania there are currently 300 patients with thalassaemia major under the management of specialized institutions. Prenatal diagnoses of thalassemia have offered a new dimension to the prevention of this disease, but in order to implement prenatal diagnosis, knowledge of mutations and of their incidence is essential. Molecular testing using Denaturing Gradient Gel Electrophoresis (DGGE) scanning and direct mutation detection with Amplificaton Refractory Mutation System-PCR (ARMS-PCR) and Restriction endonuclease Analysis of PCR fragments (PCR-RFLP) was performed by using amplified DNA from amniotic cells samples, while mutations in the parents were determined in advance. Using our experience in molecular diagnosis, we were able to perform the first prenatal diagnosis for two young couples at risk for thalassaemia major. Foetal samplings were collected by amniocentesis and chorionic villus sampling in the second trimester of the pregnancies. Maternal contamination of the foetal DNA was ruled out by STR genotyping. The prenatal diagnosis revealed affected foetuses with homozygous status of beta-thalassemia major. The IVSI-110 (G-A)/IVS II-745 (C-G) genotype in the first case foetus and ed 8 (-AA)/cd 8 (-AA) in the second case foetus were reported. The results of this study point to a successful future prenatal diagnosis of beta-thalassnemia in Romania, using a rapid and accurate molecular method. Together with the implementation of proper preventive health measures and the education of parents regarding their carrier status, we are hoping that this method will be used as the common application approach to decrease the incidence of thalassacmia major.

  8. Prenatal diagnosis of 45,X/46,XY mosaicism--a review and update.

    Science.gov (United States)

    Hsu, L Y

    1989-01-01

    A total of 54 cases with prenatal diagnosis of 45,X/46,XY mosaicism was reviewed. Of 47 cases with information on phenotypic outcome, 42 cases (89.4 per cent) were reported to be associated with a grossly normal male phenotype. Three cases (6.4 per cent) were diagnosed as having mixed gonadal dysgenesis with internal asymmetrical gonads. Two other cases were questionably abnormal. In 40 cases with successful cytogenetic confirmatory studies, the overall rate of cytogenetic confirmation of 45,X/46,XY from tissues derived from fetus/liveborn/placenta was 70.0 per cent. This review shows a major difference in the phenotypic outcome between postnatal diagnosis and prenatal diagnosis. Due to the ascertainment bias, almost all known patients with postnatal diagnosis of 45,X/46,XY mosaicism are phenotypically abnormal. Therefore, caution must be used in translating information derived from postnatal diagnosis to prenatal diagnosis. This review calls for collection of more data on 45,X/46,XY mosaicism diagnosed prenatally, more long-term follow-up of liveborn infants, and pathological studies of all abortuses. Emphasis is placed also on the importance of genetic counselling, ultrasound examination, and cytogenetic confirmation.

  9. Prenatal diagnosis of choledochal cyst using magnetic resonance imaging: A case report

    Institute of Scientific and Technical Information of China (English)

    Alex Mun-Ching Wong; Yun-Chung Cheung; Yu-Hung Liu; Koon-Kwan Ng; Siu-Cheung Chan; Shu-Hang Ng

    2005-01-01

    Choledochal cysts are congenital anomalies of the biliary ducts, characterized by cystic dilatation of the ducts.Prenatal diagnosis of this anomaly using ultrasonography (US) has been well documented. Magnetic resonance imaging (MRI) has recently become an important complement to US in prenatal diagnosis of fetal anomalies. We herein report a patient in whom at 24 wk' gestation US suggested a right upper quadrant abdominal cyst and in whom at 26 wk' gestation MRI more clearly delineated the cyst and its surrounding structures and suggested a choledochal cyst, which was confirmed at postnatal surgery and histopathology.

  10. Fetal cells in maternal blood: state of the art for non-invasive prenatal diagnosis.

    Science.gov (United States)

    Ho, S S; O'Donoghue, K; Choolani, M

    2003-09-01

    In Singapore, 1 in 5 pregnancies occur in mothers > 35 years old and genetic diseases, such as thalassaemia, are common. Current methods for the diagnosis of aneuploidy and monogenic disorders require invasive testing by amniocentesis, chorion villus biopsy or fetal blood sampling. These tests carry a procedure-related risk of miscarriage that is unacceptable to many couples. Development of non-invasive methods for obtaining intact fetal cells would allow accurate prenatal diagnosis for aneuploidy and single gene disorders, without the attendant risks associated with invasive testing, and would increase the uptake of prenatal diagnosis by women at risk. Isolation of fetal erythroblasts from maternal blood should allow accurate non-invasive prenatal diagnosis of both aneuploidies and monogenic disorders. Expression of gamma-globin in maternal erythroblasts and the inability to locate fetal erythroblasts reliably in all pregnancies have prevented its clinical application. In the absence of a highly specific fetal cell marker, enrichment, identification and diagnosis--the 3 components of non-invasive prenatal diagnosis--have clearly defined objectives. Since fetal cells are rare in maternal blood, the sole purpose of enrichment is yield--to recover as many fetal cells as possible--even if purity is compromised at this stage. In contrast, the primary goal of identification is specificity; absolute certainty of fetal origin is required at this stage if the ultimate objective of diagnosis, accuracy, is to be achieved. This review summarises the current state of the art of non-invasive prenatal diagnosis using fetal erythroblasts enriched from maternal blood.

  11. DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency

    DEFF Research Database (Denmark)

    Olsen, Rikke K J; Andresen, Brage S; Christensen, Ernst;

    2005-01-01

    , prenatal diagnosis of MADD has relied mostly on second-trimester biochemical analyses of amniotic fluid or cultured amniocytes. We report here on an alternative DNA-based approach for prenatal diagnosis in pregnancies at risk of MADD. METHODS: We used our knowledge of the mutational status in three...

  12. Genetic counseling and prenatal diagnosis: a multicultural perspective.

    Science.gov (United States)

    Puñales-Morejon, D

    1997-01-01

    More and more women are using prenatal tests to obtain specific information on the health of the developing fetus. The objective of genetic counseling is not to decrease the occurrence of genetic disease, it is to help individuals and families adjust to their genetic risks and make their own decisions in line with their reproductive goals and world views. Choices made by parent(s) will reflect their own intrapsychic processes as well as their own cultural and social understanding of genetic risk and disease. As prenatal testing continues to diagnose an ever growing number of genetic disorders, genetic counseling faces greater and greater challenges. Now more than ever before, genetic counseling must incorporate both psychological counseling and multiculturalism in order to serve diverse individuals and families at risk for genetic disease.

  13. Update on procedure-related risks for prenatal diagnosis techniques

    DEFF Research Database (Denmark)

    Tabor, Ann; Alfirevic, Zarko

    2010-01-01

    Introduction: As a consequence of the introduction of effective screening methods, the number of invasive prenatal diagnostic procedures is steadily declining. The aim of this review is to summarize the risks related to these procedures. Material and Methods: Review of the literature. Results: Data...... from randomised controlled trials as well as from systematic reviews and a large national registry study are consistent with a procedure-related miscarriage rate of 0.5-1.0% for amniocentesis as well as for chorionic villus sampling (CVS). In single-center studies performance may be remarkably good due...... not be performed before 15 + 0 weeks' gestation. CVS on the other hand should not be performed before 10 weeks' gestation due to a possible increase in risk of limb reduction defects. Discussion: Experienced operators have a higher success rate and a lower complication rate. The decreasing number of prenatal...

  14. Prenatal diagnosis based on HPRT1 gene mutation in a Lesch-Nyhan family.

    Science.gov (United States)

    Liu, N; Zhuo, Z-H; Wang, H-L; Kong, X-D; Shi, H-R; Wu, Q-H; Jiang, M

    2015-01-01

    We explored the feasibility of applying gene diagnosis in prenatal diagnosis by analysis of hypoxanthine-guanine phosphoribosyltransferase-1 (HPRT1) gene mutation in a Chinese Lesch-Nyhan family. A homozygous mutation of p.R170X (c.508C>T) in HPRT1 gene was detected in the proband, and a heterozygous mutation of p.R170X was detected in his mother. This mutation failed to be found in the 50 unrelated healthy individuals. Prenatal diagnosis indicated that the foetus was male and also carried p.R170X (c.508C>T) mutation, same as the proband. Parents of the foetus decided termination of pregnancy, and the result of gene analysis for the aborted tissue was consistent with that of prenatal diagnosis. We can see that Lesch-Nyhan syndrome (LNS) is caused by non-sense mutation p.R170X(c.508C>T)in HPRT1 gene in this family. Prenatal gene diagnosis is a valid strategy to prevent LNS because it can avoid the birth of LNS foetuses.

  15. Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid.

    Science.gov (United States)

    Zhang, Yao; Yang, Yan-ling; Hasegawa, Yuki; Yamaguchi, Seiji; Shi, Chun-yan; Song, Jin-qing; Sayami, Sujan; Liu, Ping; Yan, Rong; Dong, Jin-hua; Qin, Jiong

    2008-02-05

    Methylmalonic aciduria (MMA) is the most frequent disease of organic aciduria in China. Various biochemical strategies are followed for the prenatal diagnosis of MMA. However, since fetuses affected by MMA have decreased excretion of methylmalonic acid, the difficulties of prenatal biochemical diagnosis are obvious. Gas chromatography mass spectrometry (GC/MS) and tandem mass spectrometry (ESI/MS/MS) have allowed us to identify the disease in affected fetuses. The aim of this study was to determine the value of analysis of organic acids and total homocysteine in amniotic fluid in prenatal diagnosis of MMA. The clinical diagnoses and outcomes of nine probands with MMA and the prenatal diagnoses based on biochemical analysis of nine fetuses at risk for MMA were investigated. Amniotic fluid samples from pregnancies at risk for MMA and metabolically normal pregnancies were obtained at 16 - 24 weeks of gestation. Methylmalonic acid and methylcitric acid were measured by GC/MS, propionylcarnitine was analyzed by ESI/MS/MS, and total homocysteine was determined by fluorescence polarization immunoassay. In two pregnancies, high levels of methylmalonic acid, methylcitric acid, propionylcarnitine, and total homocysteine indicated combined MMA and homocysteinemia in the fetuses. One of the mothers continued pregnancy and received cobalamin supplement as prenatal treatment, and the other terminated her pregnancy. In one pregnancy, significantly elevated levels of methylmalonic acid, methylcitric acid, and propionylcarnitine, and normal level of total homocysteine was found indicating isolated MMA in the fetus; abortion was performed on this case. In the other six pregnancies, all the levels of the above mentioned metabolites were normal suggesting that the fetuses were not affected by MMA. The diagnoses were confirmed after delivery by testing urinary organic acids and plasma total homocysteine. The metabolic abnormalities of MMA occur early in gestation. The level of total

  16. Prenatal diagnosis of six major cardiac malformations in Europe - A population based study

    NARCIS (Netherlands)

    Garne, E

    Aim. To present data on prenatal diagnosis of six major cardiac malformations in low-risk European populations. Methods. Data from 12 Eurocat registries on congenital malformations. All registries have multiple sources of information and use the same methods of data collection and coding. The six

  17. Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis

    DEFF Research Database (Denmark)

    László, Aranka; Endreffy, Emoke; Tümer, Zeynep

    2010-01-01

    from MD and prenatal diagnosis was done in this MD loaded family. METHOD: The 12th exon of ATP7A gene has been analyzed by dideoxy-finger printing (DDF), polymerase chain reaction (PCR), direct sequencing of exon 12. The specific mutation was screened from chorionic villi of the maternal aunt at the 14...

  18. Influence of the 20-week anomaly scan on prenatal diagnosis and management of fetal facial clefts

    NARCIS (Netherlands)

    Ensing, S.; Kleinrouweler, C. E.; Maas, S. M.; Bilardo, C. M.; Van der Horst, C. M. A. M.; Pajkrt, E.

    2014-01-01

    Objective To investigate trends in prenatal diagnosis and termination of pregnancy rates in cases of fetal cleft lip with or without cleft palate (CL +/- P), before and after the introduction in The Netherlands of the 20-week anomaly scan in 2007, and to assess the accuracy of this scan for the diag

  19. Correlation between prenatal diagnosis by ultrasound and fetal autopsy findings in second-trimester abortions

    DEFF Research Database (Denmark)

    Hauerberg, Laura; Skibsted, Lillian; Graem, Niels;

    2012-01-01

    We evaluated the correlation between prenatal diagnosis by ultrasound and autopsy findings, based on 52 second-trimester pregnancies terminated due to fetal malformations or chromosome aberrations diagnosed at a gestational age of 12-25 weeks. In 24 pregnancies, there was full agreement between u...

  20. Counseling needs and attitudes toward prenatal diagnosis and abortion in fragile-X families.

    Science.gov (United States)

    Meryash, D L; Abuelo, D

    1988-05-01

    The genetic counseling need of 32 women of normal intelligence at-risk for having children with the fragile-X syndrome (FXS) were determined by a questionnaire study which included assessment of their attitudes toward prenatal diagnosis and the option of pregnancy termination. Eighteen (56%) of the women had one or more children with the FXS and 14 (44%) had no affected children. Twenty-six (81%) of the subjects stated that they would choose to have prenatal diagnosis and 9 (28%) indicated they would terminate an affected pregnancy. There was no significant difference between women who had affected children and those who did not have affected children, nor between Catholics and non-Catholics regarding acceptance of prenatal diagnosis. Catholic women were less likely to consider pregnancy termination than non-Catholics, but the majority of subjects (56%) were unsure what they would do if a fetus they were carrying was found to be affected. Issues the subjects considered most important for discussion with a genetic counselor included: 1) availability of treatment, 2) risk for having an affected grand child, 3) expectations for future functioning of affected children, and 4) availability of prenatal diagnosis.

  1. [Prenatal diagnosis and postpartal therapy of a rare sequela of gastroschisis: short bowel syndrome].

    Science.gov (United States)

    Wunsch, M; Pompino, H J

    1991-01-01

    Report about a rare complication of gastroschisis by early volvalus. Following this occasionally the prenatal diagnosis there was a very ultrasonogram of a mostly solid tumour before the abdominal wall. The postpartal operative therapy with resection and later doubling according to Bianchi B described.

  2. Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection

    DEFF Research Database (Denmark)

    Nielsen, Jørgen E; Koefoed, Pernille; Kjaergaard, Susanne

    2004-01-01

    OBJECTIVE: To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP). METHODS: Genetic linkage and haplotype analysis were previously carried out with chromosome 2p markers. DNA was obtained from affected...

  3. Prenatal diagnosis of Meckel-Gruber syndrome in a pregnancy obtained with ICSI.

    Science.gov (United States)

    Celentano, Claudio; Prefumo, Federico; Liberati, Marco; Gallo, Giuseppina; Di Nisio, Quirino; Rotmensch, Sigfried

    2006-06-01

    The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel-Gruber syndrome (MGS). Nowadays, the diagnosis of MGS is usually performed prenatally by ultrasound findings. MGS was previously described following in vitro fertilization. We report a case of MGS diagnosed at 17 weeks in a pregnancy obtained with intra-cytoplasmic sperm injection (ICSI).

  4. WOMENS OPINIONS ON THE OFFER AND USE OF PRENATAL-DIAGNOSIS

    NARCIS (Netherlands)

    TYMSTRA, T; BAJEMA, C; BEEKHUIS, [No Value; MANTINGH, A

    1991-01-01

    We have studied the opinions and attitudes of women towards prenatal diagnosis (amniocentesis/chorionic villus sampling/ultrasound/serum AFP testing). A questionnaire was sent to 185 women who had had their first baby a few months before. The respondents have a strong positive attitude towards the d

  5. Ectopia cordis with endocardial cushion defect: Prenatal ultrasonographic diagnosis with autopsy correlation.

    Science.gov (United States)

    Balakumar, K; Misha, K

    2010-07-01

    The prenatal ultrasonographic diagnosis of ectopia cordis associated with a complex intra-cardiac defect (common atrium, common atrioventricular valve with single ventricle) is illustrated in a 32-week gestation fetus. The fetus showed associated features of amniotic band disruption sequence. The cardiac autopsy findings correlated with the antenatal diagnosis. The association of ectopia cordis with amniotic band disruption is rare and infrequently reported in literature.

  6. Ectopia cordis with endocardial cushion defect: Prenatal ultrasonographic diagnosis with autopsy correlation

    OpenAIRE

    Balakumar K; Misha K

    2010-01-01

    The prenatal ultrasonographic diagnosis of ectopia cordis associated with a complex intra-cardiac defect (common atrium, common atrioventricular valve with single ventricle) is illustrated in a 32-week gestation fetus. The fetus showed associated features of amniotic band disruption sequence. The cardiac autopsy findings correlated with the antenatal diagnosis. The association of ectopia cordis with amniotic band disruption is rare and infrequently reported in literature.

  7. Ectopia cordis with endocardial cushion defect: Prenatal ultrasonographic diagnosis with autopsy correlation

    Directory of Open Access Journals (Sweden)

    Balakumar K

    2010-01-01

    Full Text Available The prenatal ultrasonographic diagnosis of ectopia cordis associated with a complex intra-cardiac defect (common atrium, common atrioventricular valve with single ventricle is illustrated in a 32-week gestation fetus. The fetus showed associated features of amniotic band disruption sequence. The cardiac autopsy findings correlated with the antenatal diagnosis. The association of ectopia cordis with amniotic band disruption is rare and infrequently reported in literature.

  8. A 11.7-Mb Paracentric Inversion in Chromosome 1q Detected in Prenatal Diagnosis Associated with Familial Intellectual Disability.

    Science.gov (United States)

    Rigola, Maria A; Baena, Neus; Català, Vicenç; Lozano, Iris; Gabau, Elisabet; Guitart, Miriam; Fuster, Carmen

    2015-01-01

    Most apparent balanced chromosomal inversions are usually clinically asymptomatic; however, infertility, miscarriages, and mental retardation have been reported in inversion carriers. We present a small family with a paracentric inversion 1q42.13q43 detected in routine prenatal diagnosis. Molecular cytogenetic methods defined the size of the inversion as 11.7 Mb and excluded other unbalanced chromosomal alterations in the patients. Our findings suggest that intellectual disability is caused by dysfunction, disruption, or position effects of genes located at or near the breakpoints involved in this inversion.

  9. Detection of human aneuploidies in prenatal and postnatal diagnosis using molecular cytogenetics

    Directory of Open Access Journals (Sweden)

    Kucheria Kiran

    2002-01-01

    Full Text Available Chromosomal aneuploidies especially trisomies 13, 18, 21, monosomy X and 47, XXY account for up to 95% of live born cytogenetic abnormalities. The diagnosis of aneuploidies usually done by conventional cytogenetic analysis (CCA is associated with technical difficulties and requires about 1-3 weeks for providing a result, especially in prenatal diagnosis. In the present study, Fluorescence In Situ Hybridization (FISH was used on interphase cells for rapid prenatal and postnatal detection of aneuploidies. The frequent indications of high pregnancies included for prenatal diagnosis were previous child with chromosomal abnormalities, abnormal ultrasound scan and advanced maternal age (> 35 years. Interphase FISH was done using probes specific for chromosomes 13, 18, 21, X and Y on uncultured chorionic villi and amniotic fluid samples. All samples were analyzed subsequently using conventional cytogenetics. The analysis of aneuploidies for chromosomes 13, 15, 16, 18, 21, 22, X and Y using FISH was extended to abortuses from spontaneous abortion cases. In cases where cytogenetics was not informative, a diagnosis could be made using interphase FISH. For postnatal diagnosis, interphase FISH was done to confirm low-level mosaicism in patients with primary amenorrhea, suspected cases of Klinefelter syndrome, and mental retardation using probes specific for various autosomes, X and Y chromosomes. FISH was also done using probe specific for the sex-determining region (SRY on the Y chromosome in cases with ambiguous genitalia. The SRY region could be identified in cases that lacked the Y chromosome on conventional cytogenetic analysis thereby emphasizing on the high resolution of FISH technique in detecting sub-microscopic rearrangements. To conclude, interphase FISH decreases the time interval between sampling and diagnosis. This is of tremendous value in prenatal diagnosis of urgent high-risk pregnancies, management of ambiguous genitalia and low

  10. Current status of prenatal diagnosis in Cuba: causes of low prevalence of Down syndrome.

    Science.gov (United States)

    Méndez-Rosado, L A; Hechavarría-Estenoz, D; de la Torre, M E; Pimentel-Benitez, H; Hernández-Gil, J; Perez, B; Barrios-Martínez, A; Morales-Rodriguez, E; Soriano-Torres, M; Garcia, M; Suarez-Mayedo, U; Cedeño-Aparicio, N; Blanco, I; Díaz-Véliz, P; Vidal-Hernández, B; Mitjans-Torres, M; Miñoso, S; Alvarez-Espinosa, D; Reyes-Hernández, E; Angulo-Cebada, E; Torres-Palacios, M; Lozano-Lezcano, L; Lima-Rodriguez, U; Mayeta, M; Noblet, M; Benítez, Y; Lardoeyt-Ferrer, R; Yosela-Martin, S; Carbonell, P; Pérez-Ramos, M; de León, N; Perez, M; Carbonell, J

    2014-11-01

    To analyze trends in cytogenetic prenatal diagnosis in Cuba and to analyze possible causes leading to a low Down syndrome prevalence in a country where the triple test is not available. An analysis of the Cuban program in prenatal cytogenetic diagnosis from 1984 to 2012 was conducted. Results are described, with particular emphasis on indications, abnormal results, types of invasive procedures, and terminations of pregnancy. Cytogenetic prenatal diagnostic analyses (n = 75,095) were conducted; maternal age was the indication for 77.9% of the amniocenteses and chorionic villus samplings. The detection rate of chromosomally abnormal pregnancies was 2.3% for maternal age and increased to 8-9% for other indications. When a chromosomal abnormality was identified, 88.5% terminated the pregnancy. In 2002, the live birth prevalence of Down syndrome was 8.4 per 10,000 live births, and in 2012, 7 per 10,000. Prenatal diagnosis in Cuba has contributed to a significant reduction in chromosomal aberrations. The impact increased because of the demographic trends of the population, the high index of terminations of pregnancy, and the establishment of a network of cytogenetic laboratories throughout Cuba. © 2014 John Wiley & Sons, Ltd.

  11. Update on Urological Management of Spina Bifida from Prenatal Diagnosis to Adulthood.

    Science.gov (United States)

    Snow-Lisy, Devon C; Yerkes, Elizabeth B; Cheng, Earl Y

    2015-08-01

    We review the current literature regarding urological management of spina bifida from prenatal diagnosis to adulthood. We searched MEDLINE(®), EMBASE(®) and PubMed(®) for English articles published through December 2014 using search terms "spina bifida," "spinal dysraphism" and "bladder." Based on review of titles and abstracts, 437 of 1,869 articles were identified as addressing topics related to open spina bifida in pediatric patients, or long-term or quality of life outcomes in adults with spina bifida. We summarize this literature to inform clinical guidelines and create a framework for disease management. The birth prevalence of spina bifida in the United States has recently plateaued at approximately 30 per 100,000. With improved management more individuals are surviving to adulthood, with an economic impact of $319,000 during the lifetime of an individual with spina bifida. Recent advances in prenatal surgery have demonstrated that prenatal closure of spina bifida is possible. To assess safety and efficacy, the National Institutes of Health sponsored Management of Myelomeningocele Study was undertaken, in which subjects were randomized to prenatal or postnatal closure. Until the urological results of this trial are published, the impact of prenatal intervention on future bladder function remains unclear. Controversy continues regarding the optimal use and timing of urodynamic studies, and the indications for initiation of clean intermittent catheterization and anticholinergics in infants and children. Many favor expectant management, while others argue for a more proactive approach. Based on the current literature, both approaches appear to protect the child from renal injury, although delayed intervention may increase rates of bladder augmentation. The current literature regarding this topic is difficult to interpret and compare due to heterogeneity of patient populations, variable outcome measures and lack of reporting of quality of life outcomes

  12. Prenatal diagnosis of Meckel-Gruber syndrome case reports.

    Science.gov (United States)

    Su, S L; Liu, C M; Lee, J N

    1995-02-01

    Two cases of Meckel-Gruber syndrome are presented. In the first case, abdominal tumor and decreased amniotic fluid were initially suspected. In the second case, Omphalocele was diagnosed by local practitioners. Thorough obstetric sonographic studies revealed encephalocele, bilateral renal cystic dysplasia, polydactyly, microcephalus, intrauterine growth retardation (IUGR) and oligohydramnios. Chromosomal analysis by percutaneous umbilical cord blood sampling (PUBS) was normal with 46,XY in Case 1 and 46,XX in Case 2. The prenatal diagnoses were confirmed by autopsy. The pathologic reports revealed type I polycystic kidney, bile duct proliferation, fibrosis of the portal area, encephalocele and polydactyly. It is interesting to note that the two cases came from two different families without any family history of inherited disease.

  13. Congenital cystic adenomatoid malformation: impact of prenatal diagnosis and changing strategies in the treatment of the asymptomatic patient.

    Science.gov (United States)

    Marshall, K W; Blane, C E; Teitelbaum, D H; van Leeuwen, K

    2000-12-01

    This study was designed to assess the effect of prenatal sonographic diagnosis on the treatment of congenital cystic adenomatoid malformation of the lung. The medical records of 27 patients with pathologically proven congenital cystic adenomatoid malformations were retrospectively reviewed. Patients were divided into four groups based on mode of presentation: with or without abnormal findings on prenatal sonography and with or without symptoms at birth. Age at diagnosis, age at surgical intervention, complications, and length of hospital stay were recorded for each group. Twenty-seven patients with 31 proven congenital cystic adenomatoid malformations were included. Eleven patients underwent prenatal sonography establishing the diagnosis (6 asymptomatic at birth, 5 symptomatic), and 16 did not have a prenatal diagnosis (10 asymptomatic at birth, 6 symptomatic). In the symptomatic populations, prenatal diagnosis had no impact on age at surgery, length of stay, or surgical complication rate (p = 0.78-0.83). In the asymptomatic population, prenatal diagnosis allowed early diagnosis (p < 0.001) and resection in the asymptomatic period. It was also associated with a shorter length of stay at the time of surgical resection (mean time, 4.2 days for patients with prenatal diagnosis versus 12.9 days for those without it;p < 0.001) and with a trend toward lower serious complication rate (3 patients without prenatal diagnosis versus 1 patient with it). Prenatal sonography provides the radiologist a means to identify congenital cystic adenomatoid malformations in a population of infants who are asymptomatic at birth. Surgical intervention in the asymptomatic infant is associated with a shorter length of stay, a trend toward fewer complications, and decreased medical cost compared with intervening after symptoms develop.

  14. Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign

    Energy Technology Data Exchange (ETDEWEB)

    Garel, Catherine [Trousseau Hospital, University Hospitals of the East of Paris, Department of Radiology, Paris (France); Hopital d' Enfants Armand-Trousseau, Department of Radiology, Paris (France); Dhouib, Amira; Sileo, Chiara; Ducou le Pointe, Hubert [Trousseau Hospital, University Hospitals of the East of Paris, Department of Radiology, Paris (France); Cormier-Daire, Valerie [Paris Descartes University, Sorbonne Paris Cite, Necker-Enfants-Malades Hospital, Department of Genetics, Paris (France)

    2014-03-15

    Metatropic dysplasia is a very rare form of osteochondrodysplasia with only one case of prenatal diagnosis described in the literature. It is characterized by marked shortening of the long bones with severe platyspondyly and dumbbell-shape metaphyses. We report a case of metatropic dysplasia that was diagnosed prenatally and describe the findings on US and CT. The pregnancy was terminated and the post-mortem radiographs are shown. The woman had been referred for short and bowed long bones. Severe metaphyseal enlargement was a misleading finding because it had been misinterpreted as limb bowing. Thus when abnormal curvature of the long bones is observed at prenatal US, attention should be drawn not only to the diaphyses but also to the metaphyses because severe metaphyseal enlargement might be responsible for pseudo-bowing. (orig.)

  15. Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP).

    Science.gov (United States)

    Francoual, Jeanne; Trioche, Pascale; Mokrani, Chahnez; Seboui, Hassen; Khrouf, Naïma; Chalas, Jacqueline; Clement, Marina; Capel, Liliane; Tachdjian, Gérard; Labrune, Philippe

    2002-10-01

    Crigler-Najjar syndrome type I (CN-I) is a rare and severe inherited disorder of bilirubin metabolism, caused by the total deficiency of bilirubin-UDP-glucuronosyltransferase (UGT) activity. Enzymatic diagnosis cannot be performed in chorionic villi or amniocytes as UGT is not active in these tissues. The cloning of the UGT1 gene and the identification of disease-causing mutations have led to the possibility of performing DNA-based diagnosis. Here we report DNA-based prenatal diagnosis of CN-I in two Tunisian families in whom CN-I patients were diagnosed. As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis. In both cases, SSCP analysis of fetal DNA showed that the fetus was heterozygous for the Q357R mutation. In one family, the pregnancy was carried to term and a healthy baby was born, whereas, in the other family, the pregnancy is still continuing. Thus the prenatal diagnosis of CN-I is possible, provided disease-causing mutations have been identified. SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis.

  16. Diagnóstico pré-natal das genodermatoses Prenatal diagnosis of genodermatoses

    Directory of Open Access Journals (Sweden)

    Maria Carolina de Abreu Sampaio

    2007-08-01

    Full Text Available O diagnóstico pré-natal está indicado para algumas genodermatoses graves, como a epidermólise bolhosa distrófica recessiva e a epidermólise bolhosa juncional. A biópsia de pele fetal foi introduzida em 1980, mas não pode ser realizada antes da 15a semana de gestação. A análise do DNA fetal é método preciso e pode ser realizado mais precocemente na gestação. No entanto, deve-se conhecer a base molecular da genodermatose, e é essencial determinar a mutação e/ou marcadores informativos nas famílias com criança previamente afetada. O DNA fetal pode ser obtido pela biópsia da vilosidade coriônica ou amniocentese. O diagnóstico genético pré-implantação tem surgido como alternativa que dispensa a interrupção da gestação. Essa técnica, que envolve fertilização in vitro e teste genético do embrião. vem sendo realizada para genodermatoses em poucos centros de referência. A ultra-sonografia é exame não invasivo, mas tem uso limitado no diagnóstico pré-natal de genodermatoses. A ultrasonografia tridimensional geralmente estabelece o diagnóstico tardiamente na gestação, e há apenas relatos anedóticos de diagnóstico pré-natal de genodermatoses usando esse método.Prenatal diagnostic testing is indicated for some severe genodermatoses, such as recessive dystrophic epidermolysis bullosa and junctional epidermolysis bullosa. Fetal skin biopsy was introduced in 1980, but it cannot be performed before 15th gestational week. Fetal DNA analysis is a precise method and can be performed earlier in pregnancy. However, the molecular basis of the genodermatoses must be known and it is essential to determine the gene mutations and/or informative markers in the families with a previously affected child. Fetal DNA can be obtained by chorionic villus sampling or amniocentesis. Preimplantation genetic diagnosis is an alternative approach obviating the need for termination of pregnancy. It involves in vitro fertilization and

  17. Cell-free fetal DNA in amniotic fluid supernatant for prenatal diagnosis.

    Science.gov (United States)

    Soltani, M; Nemati, M; Maralani, M; Estiar, M A; Andalib, S; Fardiazar, Z; Sakhinia, E

    2016-04-30

    In widespread conviction, amniotic fluid is utilized for prenatal diagnosis. Amniotic fluid supernatant is usually discarded, notwithstanding being a good source of fetal DNA. The aim of the present study was to assess cell-free fetal DNA extracted from amniotic fluid supernatant for application in prenatal diagnosis such as gender determination and early diagnosis of β-thalassemia. Samples of amniotic fluid of 70 pregnant women were collected and went through routine tests along with tests for cell-free fetal DNA from amniotic fluid supernatant. The DNA in the amniotic fluid supernatant was extracted and analyzed for gender determination by PCR and Real-time PCR. ARMS-PCR was applied to test early diagnosis of IVS II-I mutation (common β-thalassemia mutation) and E7V mutation for sickle cell anemia using DNA extracted from the amniotic fluid supernatant. Using the cell-free fetal DNA extracted from the amniotic fluid supernatant, the sensitivity of PCR and Real-time PCR for gender detection was compared with the routine cytogenetic method. The fetus tested for sickle cell anemia and β-thalassemia was observed to be healthy but heterozygous for IVS II-I mutation. The findings indicated that cell-free fetal DNA from amniotic fluid supernatant can be a good source of fetal DNA and be used in early prenatal diagnosis since because of its fast and accurate application. Therefore, it would be suggested that the amniotic fluid supernatant's disposal is prevented because if the tests needs to be repeated, cell-free fetal DNA extracted from the amniotic fluid supernatant can be used as an alternative source for prenatal diagnosis.

  18. Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.

    Science.gov (United States)

    Fu, Fang; Liu, Huan-ling; Li, Ru; Han, Jin; Yang, Xin; Min, Pan; Zhen, Li; Zhang, Yong-ling; Xie, Gui-e; Lei, Ting-ying; Li, Yan; Li, Jian; Li, Dong-zhi; Liao, Can

    2014-08-10

    MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal clinical presentation. In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities. Using high-resolution chromosome microarray analysis (CMA) to screen 108 foetuses with congenital structural abnormalities, we identified additional three foetuses with the MECP2 duplication. Our study indicates that ventriculomegaly, hydrocephalus, agenesis of the corpus callosum, choroid plexus cysts, foetal growth restriction and hydronephrosis might be common ultrasound findings in prenatal foetuses with the MECP2 duplication and provides the first set of prenatal cases with MECP2 duplication, the ultrasonographic phenotype described in these patients will help to recognise the foetuses with possible MECP2 duplication and prompt the appropriate molecular testing.

  19. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe

    NARCIS (Netherlands)

    Boyd, PA; Wellesley, DG; De Walle, HEK; Tenconi, R; Garcia-Minaur, S; Zandwijken, GRJ; Stoll, C; Clementi, M

    2000-01-01

    Objective-Evaluation of prenatal diagnosis of neural tube defects by ultrasound examination in unselected populations across Europe. Setting-Prenatal ultrasound units in areas that report to contributing congenital malformation registers. Methods-All cases with a suspected or confirmed neural tube d

  20. Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report

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    Neerja Gupta

    2013-01-01

    Full Text Available Peters’ plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. We report the first case of fetal Peters’ plus syndrome from India, where fetal ultrasound and the family history were helpful in providing a clue to the diagnosis that was confirmed later on by the DNA analysis.

  1. Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations

    Science.gov (United States)

    Zeevi, David A.; Altarescu, Gheona; Weinberg-Shukron, Ariella; Zahdeh, Fouad; Dinur, Tama; Chicco, Gaya; Herskovitz, Yair; Renbaum, Paul; Elstein, Deborah; Levy-Lahad, Ephrat; Rolfs, Arndt; Zimran, Ari

    2015-01-01

    BACKGROUND. Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assembly is essential for accurate diagnosis of minuscule amounts of circulating cell-free fetal DNA; however, current haplotyping techniques are too time-consuming and laborious to be carried out within the limited time constraints of prenatal testing, hampering practical application of NIPD in the clinic. Here, we have addressed this pitfall and devised a universal strategy for rapid NIPD of a prevalent mutation in the Ashkenazi Jewish (AJ) population. METHODS. Pregnant AJ couples, carrying mutation(s) in GBA, which encodes acid β-glucosidase, were recruited at the SZMC Gaucher Clinic. Targeted next-generation sequencing of GBA-flanking SNPs was performed on peripheral blood samples from each couple, relevant mutation carrier family members, and unrelated individuals who are homozygotes for an AJ founder mutation. Allele-specific haplotypes were constructed based on linkage, and a consensus Gaucher disease–associated founder mutation–flanking haplotype was fine mapped. Together, these haplotypes were used for NIPD. All test results were validated by conventional prenatal or postnatal diagnostic methods. RESULTS. Ten parental alleles in eight unrelated fetuses were diagnosed successfully based on the noninvasive method developed in this study. The consensus mutation–flanking haplotype aided diagnosis for 6 of 9 founder mutation alleles. CONCLUSIONS. The founder NIPD method developed and described here is rapid, economical, and readily adaptable for prenatal testing of prevalent autosomal recessive disease-causing mutations in an assortment of worldwide populations. FUNDING. SZMC, Protalix Biotherapeutics Inc., and Centogene AG. PMID:26426075

  2. 45,X/46,XY mosaicism: contrast of prenatal and postnatal diagnosis.

    Science.gov (United States)

    Wheeler, M; Peakman, D; Robinson, A; Henry, G

    1988-03-01

    The process of prenatal diagnosis is unique in that the diagnosis and prognosis are made without seeing the patient. 45,X/46,XY mosaicism presents a special problem in this regard. The phenotype of 45,X/46,XY postnatally diagnosed children (pediatric group) was compared to that of 6 fetuses who were diagnosed from 7,000 amniocenteses (prenatal group). These amniocenteses were performed primarily because of an increased risk of chromosome abnormality. The pediatric group (age birth-18 yr) were all phenotypically abnormal, although none were mentally retarded. Seven patients presented with ambiguous genitalia, while 2 had primary amenorrhea. Sexual assignment was changed in 2. Abnormalities included rudimentary phallus, urogenital sinus, hypospadias, undescended testes, and short stature. All 9 patients required at least one surgical procedure. In contrast, the prenatally diagnosed fetuses (ages 3 months to 3 1/2 yr) were all phenotypically normal males. Four were noted to have male genitalia on ultrasonography. Thus, the phenotype of 45,X/46,XY mosaicism in prenatally diagnosed fetuses can be markedly different from that of individuals diagnosed postnatally. This must be considered when counseling patients.

  3. Use of amniocytes for prenatal diagnosis of 22q11.2 microdeletion syndrome: a feasibility study

    Institute of Scientific and Technical Information of China (English)

    LIU Tao; LIU Qing; WANG Yi-xin; YANG Dong; XIN Yi; FANG Zhen; DING Shu-fang; YANG Jie-fu

    2010-01-01

    Background A study of prenatal genetic diagnosis for 22q11.2 mierodeletion, which has a wide phenotypic spectrum that involves almost all organs, is rarely reported in China. This study aimed to explore the prevalence of 22q11.2 microdeletion in congenitally malformed fetuses via the fluorescent in situ hybridization (FISH) technique and to investigate the feasibility of use of amniocytes to diagnose 22q11.2 microdeletion syndrome prenatally.Methods The study enrolled 23 cases of fetal cardiac malformation, as indicated by ultrasound in Beijing Anzhen Hospital and 14 cases of non-cardiac malformation, as determined by type-B ultrasound in Beijing Anzhen Hospital and other hospitals. Amniotic fluid was obtained by amniocentesis before odinopoeia, and the stillborn fetuses of the induced labor were preceded to autopsy. The amniotic fluid of 20 cesarean deliveries during the same period of time was used as a control. The TUPLE1 gene in the amniotic fluid of malformed and normal fetuses was assessed by the FISH method.Results The prevalence rates of the TUPLE1 gene deletion in the amniotic fluid cells from fetuses with cardiac deformations and fetuses without such malformations were 43.5% and 57.1%, respectively. The deletion of TUPLE1 was significantly associated with fetal malformation.Conclusion Chromosome 22q11.2 microdeletion is one of the major factors leading to fetal congenital malformations, and prenatal FISH screening for 22q11.2 microdeletion syndrome is technically feasible using amniocytes.

  4. Prenatal Diagnosis of Chronic Granulomatous Disease in a Male Fetus

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    Yavuz Köker m

    2009-03-01

    Full Text Available Mutations in any of four known NADPH-oxidase components lead to CGD. X-linked CGD (X-CGD is caused by defects in CYBB, the gene that encodes gp91-phox. Autosomal recessive (AR CGD is caused by defects in the genes for p47 phox, p22-phox or p67-phox. The aim of this study was to screen the molecular defect in the fetus of an X-CGD carrier mother and postnatal confirmation of the results. In a family whose first-born child died from X-CGD, fetal DNA was obtained from an ongoing pregnancy by chorionic villus sampling (CVS. Direct sequencing was used to detect the previously identified CYBB gene mutation. The NADPH oxidase activity in the neutrophils from the carrier mother and from the newborn was analyzed by the DHR assay. Our studies predicted that the fetus in question was not affected by chronic granulomatous disease, which was demonstrated to be correct at birth. For prenatal screening in a pregnant X-CGD carrier, direct sequencing is a good method for detecting the mutation in the fetal DNA. Postnatal confirmation of results with the DHR assay is more practical than mutation screening to show whether the newborn have normal NADPH oxidase activity or does not.

  5. Prenatal diagnosis of gonosomal anomalies: limitations of the FISH method and genetic counseling difficulties in 15 cases.

    Science.gov (United States)

    Braha, Elena; Martiniuc, Violeta; Panzaru, Monica; Caba, Lavinia; Butnariu, Lăcrămioara; Onofriescu, M; Socolov, Demetra; Grigore, Mihaela; Nemescu, D; Mihălceanu, Elena; Iliev, G; Gorduza, E V

    2013-01-01

    Prenatal diagnosis (PD) by FISH or cell culture is today an important tool for the prevention of chromosomal anomalies. A difficult issue is prenatal detection of gonosomal anomalies. Most gonosomal anomalies neither affect life expectancy nor cause psychomotor retardation, but sexualization disorders and the lack of reproductive potential are a constant finding. This study aimed at identifying the medical problems the specialists and the parental couple are faced with at the time of the diagnosis of fetal gonosomal anomalies. This retrospective study (2004-2012) was conducted in the Prenatal Genetic Diagnosis Department of "CuzaVoda" Maternity by FISH technique in 1685 pregnancies. The AneuVysion probes were used for identifying and enumerating chromosomes 13, 18, 21, X, and Y via fluorescence in situ hybridization (FISH) in interphase nuclei obtained from amniotic fluid. Fifteen fetuses were selected in which we were faced with difficulties interpreting the number of gonosomes: monosomy X (5 cases), pseudomosaicism XX/XY (3), trisomy XXY (3 cases), trisomy XYY (1 case), 45,X/46.XX mosaicism (1 case) and triploidy XXX (2 cases). Later, by repeating the analysis, 2 cases with pseudomosaicism XX/XY were excluded. A case highlighting the limitations of the FISH test was that of a fetus in which the FISH test revealed trisomy XXY, while postnatal karyotyping showed a six cell line mosaicism (marker and ring X chromosomes). All parental couples received nondirective genetic counseling, respecting the individuals' dignity and rights of self-determination. Parents received information on the natural course of the disease, treatment options, and psychological support and were involved in their child's recovery.

  6. Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent.

    Science.gov (United States)

    Dondorp, Wybo; Sikkema-Raddatz, Birgit; de Die-Smulders, Christine; de Wert, Guido

    2012-06-01

    The introduction of genome-wide arrays in postnatal and prenatal diagnosis raises challenging ethical issues. Here, we explore questions with regard to the ethics of consent. One important issue is whether informed consent for genome-wide array-based testing is in fact feasible, given the wide range of possible outcomes and related options. The proposed alternative of "generic consent" will have to be studied in practice. From an ethical point of view, the question is whether consent would still be sufficiently "informed" in a generic approach. Another issue that has not yet been given much attention is how far parents, or pregnant women and their partners, should be allowed to determine the range of possible outcomes that will or will not be reported back to them. The scope and limits of parents' and prospective parents' right to know or not to know are far from clear. The complex normative issues on the content and weight of these rights can only be answered by taking full account of the rights and interests of all the parties involved: prospective and actual parents, children, and relatives. This paper is the result of a working group meeting preceding the European Society of Human Genetics 2011 Conference, where these issues were addressed.

  7. Evaluating the culture of fetal erythroblasts from maternal blood for non-invasive prenatal diagnosis.

    Science.gov (United States)

    Chen, H; Griffin, D K; Jestice, K; Hackett, G; Cooper, J; Ferguson-Smith, M A

    1998-09-01

    Fetal erythroblasts circulating in maternal blood are important candidate cells for non-invasive prenatal diagnosis. We have cultured erythroblasts from 16 maternal blood samples, both with and without prior enrichment by magnetic activated cell sorting (MACS), in a semi-solid medium containing growth factors. Individual colonies were examined by PCR with sex chromosome-specific primers and microsatellite marker primers. No conclusive Y-chromosome specific amplification could be demonstrated in any of the 16 cases, even when the mother was confirmed to be carrying a male fetus. All colonies tested by microsatellite marker PCR were of maternal origin. Our results suggest that the probability of obtaining fetal colonies from fetal erythroblasts circulating in maternal blood is very low and that approaches for culturing fetal erythroblasts in vitro cannot yet be used reliably for prenatal diagnosis using current methods for fetal cell enrichment.

  8. [Prenatal diagnosis at 25 weeks gestation and neonatal management of a vallecular cyst].

    Science.gov (United States)

    Cuillier, F; Testud, R; Samperiz, S; Fossati, P

    2002-11-01

    Due to the anatomical location, vallecular cyst is a rare but well-recognized cause of upper airway obstruction and death in newborn. This cyst can be accurately diagnosed by echography in utero and by MR imaging. Prenatal diagnosis allows for early consultation with surgical specialist, so that the time and place of the delivery can be addressed for neonatal preoperative planning. We report the first prenatal diagnosis of a vallecular cyst at 25 weeks of gestation. At birth, the cyst was drained and then marsupialized. We believed that, in cases of oropharyngeal tumors discovered in utero, elective delivery should be realised in a tertiary referral center in which emergency ventilation and tracheostomy are possible.

  9. Noninvasive Prenatal Diagnosis of Fetal Sex by Single-cell PEP-PCR Method

    Institute of Scientific and Technical Information of China (English)

    王陶然; 陈汉平; 马庭元

    2004-01-01

    Summary: A new method for noninvasive prenatal diagnosis of fetal sex was developed by using single-cell PEP-PCR techniques. Micromamipulation techniques were used to obtain single fetal cells from 273 maternal blood samples. The genome of single cells was preamplified by PEP and SRY genes were analyzed by PCR method. The SRY genes of 149 samples were detected by the new method among 153 samples carrying male fetus, while 119 out of 120 samples carrying female fetus were proved negative for SRY genes. The sensitivity and specificity of the new method were 97.39% and 99.17 % respectively and the correct rate was 98.17 %. The new method has the advantage of high sensitivity and specificity in noninvasive prenatal diagnosis of fetal sex and provides the basis of other researches such as sex-linked inherited diseases.

  10. Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases.

    Science.gov (United States)

    Yapar, E G; Ekici, E; Dogan, M; Gökmen, O

    1996-10-01

    Meckel-Gruber syndrome is an autosomal recessive disorder which comprises a characteristic triad of major abnormalities: renal cystic dysplasia, occipital encephalocele, and postaxial polydactyly. Because of the recessive inheritance, prenatal sonographic diagnosis is paramount for informed genetic counselling of affected pregnancies. However, Meckel-Gruber syndrome may demonstrate variation in phenotypic expression when some malformations are different from those traditionally accepted and cases may be evaluated as a different syndrome. The aim of this paper is to emphasise the phenotypic variability in Meckel-Gruber syndrome, and the importance of the prenatal sonography in the diagnosis. We also suggest that Dandy-Walker malformation or Dandy-Walker variant be accepted as one of the malformations which occur in the central nervous system as a part of the syndrome.

  11. Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India.

    Science.gov (United States)

    Tamhankar, Parag M; Agarwal, Sarita; Arya, Vandana; Kumar, Ravindra; Gupta, U R; Agarwal, S S

    2009-01-01

    To determine the feasibility and acceptability of premarital screening for beta thalassemia/related hemoglobinopathies followed by prenatal diagnosis in India. Premarital testing for thalassemia carrier state was carried out in (1) extended family members (EFM) of diagnosed cases of thalassemia/hemoglobinopathies, (2) unmarried adult cases of anemia attending the hospitals' outpatient department (OPD) and (3) adult college students (CG). Hemoglobin, red cell indices were measured by a cell counter and hemoglobin fractionation was carried out by high performance liquid chromatography (HPLC). In cases with HbA2>3.5%, or with variant hemoglobin, mutation screen was done by amplification refractory mutation system polymerase chain reaction (ARMS-PCR). In high-risk prospective couples, premarital genetic counseling was done and prenatal diagnosis possibilities were explained. The yield of carriers from EFM, OPD and CG groups was 78.17% (308/394), 19.51% (263/1348) and 4.04% (38/939), respectively. The number of prospective high-risk couples detected were 154, 48 and 2 from EFM, OPD and CG, respectively. As much as 99% of prospective carrier couples married even after knowing their high-risk status and opted for prenatal diagnosis. The program averted the birth of 33 thalassemic children; 28 in EFM group (by screening of 394 individuals), 4 in the OPD group (by screening 1348 anemic patients), and 1 in CG group (by screening of 939 students). Premarital screening in extended family members, followed by prenatal diagnosis is acceptable and the most effective strategy for control of thalassemia in developing countries like India. Copyright (c) 2008 John Wiley & Sons, Ltd.

  12. [References for prenatal diagnosis of morphological defects including the central nervous system].

    Science.gov (United States)

    Blohmer, J U; Caemmerer, C D; Bollmann, R; Bartho, S

    1993-02-01

    Clinical and autopsy records of 209 stillborn and 81 miscarried infants with 484 congenital defects of the central nervous system were analysed. Sets of more than one defect were retrospectively classified by pathogenetic criteria as syndrome, sequence, association and midline defects. Pathogenetic thinking makes the prenatal diagnosis of further defects easier if one has already been diagnosed. Statements regarding the most probable localisation of neural tube defects have been made.

  13. Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Background Methylmalonic aciduria (MMA )is the most frequent disease of organic aciduria in China.Various biochemical strategies are followed for the prenatal diagnosis of MMA.However,since fetuses affected by MMA have decreased excretion of methylmalonic acid,the difficulties of prenatal biochemical diagnosis are obvious.Gas chromatography mass spectrometry (GC/MS) and tandem mass spectrometry (ESI/MS/MS) have allowed us to identify the disease in affected fetuses.The aim of this study was to determine the value of analysis of organic acids and total homocysteine in amniotic fluid in prenatal diagnosis of MMA.Methods The clinical diagnoses and outcomes of nine probands with MMA and the prenatal diagnoses based on biochemical analysis of nine fetuses at risk for MMA were investigated.Amniotic fluid samples from pregnancies at risk for MMA and metabolically normal pregnancies were obtained at 16-24 weeks of gestation.Methylmalonic acid and methylcitric acid were measured by GC/MS,propionylcarnitine was analyzed by ESI/MS/MS,and total homocysteine was determined by fluorescence polarization immunoassay.Results In two pregnancies,high levels of methylmalonic acid,methylcitric acid,propionylcarnitine,and total homocysteine indicated combined MMA and homocysteinemia in the fetuses.One of the mothers continued pregnancy and received cobalamin supplement as prenatal treatment,and the other terminated her pregnancy.In one pregnancy,significantly elevated levels of methylmalonic acid,methylcitric acid,and propionylcarnitine,and normal level of total homocysteine was found indicating isolated MMA in the fetus;abortion was performed on this case.In the other six pregnancies,all the levels of the above mentioned metabolites were normal suggesting that the fetuses were not affected by MMA. The diagnoses were confirmed after delivery by testing urinary organic acids and plasma total homocysteine.Conclusions The metabolic abnormalities of MMA occur early in gestation.The level of

  14. Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy.

    Science.gov (United States)

    Goossens, M; Dumez, Y; Kaplan, L; Lupker, M; Chabret, C; Henrion, R; Rosa, J

    1983-10-06

    To investigate the usefulness of chorionic biopsy for prenatal diagnosis of sickle-cell anemia by restriction-endonuclease analysis of fetal DNA, we studied 30 pregnancies before elective abortion. When the reproducibility of the technique for obtaining adequate DNA samples was established, we successfully applied the test to five pregnancies at risk for sickle-cell anemia. In two cases, sickle-cell disease of the fetus led to a decision to terminate the pregnancy. In three other cases, a normal or AS genotype was demonstrated. One normal infant has been born, and one other pregnancy is continuing normally. In one case in which fetal death was observed three weeks after sampling, placental abnormalities found on histologic examination were compatible with a chromosomal aberration. Our study shows that chorionic biopsy is feasible for the prenatal diagnosis of sickle-cell disease before the 10th gestational week. If subsequent experience demonstrates this technique to be safe enough for mother and fetus, the ability to test in early pregnancy may make prenatal diagnosis acceptable to more couples at risk for serious genetic disorders.

  15. Application of Molecular Cytogenetic Technique for Rapid Prenatal Diagnosis of Aneuploidies in Iranian Population

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    Habib Nasiri

    2009-06-01

    Full Text Available Objective: Classic cell culture and karyotyping is routinely used for prenatal detection of different chromosomal abnormalities. Molecular cytogenetic techniques have also recently been developed and used for this purpose. Quantitative florescence PCR using short tandem repeat (STR markers has more potential for high throughput diagnosis. Marker heterozygosity in short tandem repeats (STR is of critical importance in the clinical applicablity of this method. Materials and Methods: Different STR markers on chromosomes 13, 18, 21, X and Y  were analysed from  amniotic samples to detect related disorders such as Down, Edward, Patau,  Klinefelter sundromes , as well as sex chromosomes numerical abnormalities . Results: In our population some markers (D18S976, DXS6854, D21S11, and D21S1411 showed alleles with sizes out of expected ranges. But others occupied narrower range of predicted distribution. Most markers have enough heterozygosity (66.3-94.7 to be used for prenatal diagnosis. Furthermore, results obtained from full karyotype for all samples were in concordance with results of molecular cytogenetic testing. Conclusion: It is concluded that, in urgent situations, if proper markers used, molecular cytogenetic testing (QF-PCR could be a useful method for rapid prenatal diagnosis (PND in populations with high rate of consanguinity such as Iran.  

  16. Investigation of QF-PCR Application for Rapid Prenatal Diagnosis of Chromosomal Aneuploidies in Iranian Population

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    Jila Dastan

    2011-03-01

    Full Text Available Objective:G-Banding followed by standard chromosome analysis is routinely used for prenatal detection of chromosomal abnormalities. In recent years, molecular cytogenetic techniques have been developed for rapid diagnosis of chromosomal abnormalities. Among these methods Quantitative Florescence Polymerase Chain Reaction (QF-PCR has been widely used for this purpose. HHeterozygosity of short tandem repeat (STR markers which leads to informativity is the most critical requirement for feasibility of QF-PCR. Methods:In this study we analyzed several short tandem repeats on chromosomes 13, 18, 21, X and Y on amniotic fluid samples obtained from PND candidates to diagnose conditions such as Down, Edward and Patau syndromes and also numerical sex chromosome abnormalities such as Klinefelter and Turner syndromes. Findings:Most of the analyzed STRs had acceptable heterozygosity (66.3-94.7 to be used in QF-PCR based prenatal diagnosis. Moreover, results obtained from both methods (standard karyotype and QF-PCR for all samples were in accordance with each other. Conclusion:In case of using appropriate STR markers, and in certain clinical indications, QF-PCR could be used as useful technique for prenatal diagnosis even in consanguine populations such as Iranians.

  17. Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes

    Directory of Open Access Journals (Sweden)

    Matthew J. Garabedian

    2012-01-01

    Full Text Available We report the prenatal diagnosis of cystic hygroma that was subsequently identified to have haploinsufficiency of the FOXF1 and FOXC2 genes via array comparative genomic hybridization (aCGH. Deletion o f these genes has previously neither been associated with cystic hygroma nor prenatally diagnosed. The FOX gene cluster is involved in cardiopulmonary development. This case expands the phenotypic spectrum o f abnormalities of the FOXF1 and FOXC2 genes, as it seems within the spectrum of function that disruption of the FOX gene cluster would lead to include abnormalities of prenatal onset. Identification of this association would not be possible with conventional karyotype or targeted aCGH. This case highlights the power of whole genomic aCGH to further delineate the etiology of birth defects.

  18. Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes.

    Science.gov (United States)

    Garabedian, Matthew J; Wallerstein, Donna; Medina, Nubia; Byrne, James; Wallerstein, Robert J

    2012-01-01

    We report the prenatal diagnosis of cystic hygroma that was subsequently identified to have haploinsufficiency of the FOXF1 and FOXC2 genes via array comparative genomic hybridization (aCGH). Deletion o f these genes has previously neither been associated with cystic hygroma nor prenatally diagnosed. The FOX gene cluster is involved in cardiopulmonary development. This case expands the phenotypic spectrum o f abnormalities of the FOXF1 and FOXC2 genes, as it seems within the spectrum of function that disruption of the FOX gene cluster would lead to include abnormalities of prenatal onset. Identification of this association would not be possible with conventional karyotype or targeted aCGH. This case highlights the power of whole genomic aCGH to further delineate the etiology of birth defects.

  19. [Eugenics' extension in the Spanish health care system through the prenatal diagnosis].

    Science.gov (United States)

    Rodríguez Martín, Esteban

    2012-01-01

    The wide implantation of strategies of sifted or prenatal selection close to laws that protect the destruction of the human life before the childbirth in the whole world, they are giving place to an increasing number of eugenic abortions. In Spain, the law 2/2010 of the sexual and reproductive health and voluntary interruption of pregnancy there has supposed the liberalization of the eugenic abortion without term limit. In we make concrete, the sanitary national and international policies of prenatal selection of Down's Syndrome, which they chase to facilitate the total or partial destruction before the childbirth of this human group, submitting it to a few particular conditions of existence during his prenatal life in those who will be an object of a series of technologies of selection, they might be qualified of genocidal policies if we consider the definition of genocide given by United Nations. In consequence, the sanitary agent who takes part without objection in the above mentioned programs promoted by the principal agents, meets turned into a necessary cooperator of the abortion who justifies itself in the supposition of "foetal risk". We can conclude that we are present at an eugenic drift of the prenatal diagnosis that is opposite to the ethical beginning of the medical profession.

  20. Karyotype analysis with amniotic fluid in 12365 pregnant women with indications for genetic amniocentesis and strategies of prenatal diagnosis.

    Science.gov (United States)

    Xiao, H; Yang, Y L; Zhang, C Y; Liao, E J; Zhao, H R; Liao, S X

    2016-01-01

    We explored the strategies of prenatal diagnosis by foetal karyotype analysis in pregnant women with indications for genetic amniocentesis. Karyotype analysis of amniotic fluid was performed on 12365 pregnant women with indications for genetic amniocentesis. The detection rates and distributions of abnormal karyotypes were observed in a variety of indications for genetic amniocentesis. The detection rates of abnormal karyotype were 57.4% in either a mother or father with chromosomal abnormality, 8.5% in the pregnant women with pathological ultrasound finding (PUF), 2.79% in the pregnant women with advanced age (35 years and over) and 2.23% in the women with abnormal maternal serum screening (MSS) tests. Foetal abnormal karyotype was found in 86 pregnant women with PUF; of the 86 pregnant women, 42 had trisomy 13, 18 or 21. Of the 12365 pregnant women, foetal abnormal karyotype was found in 428 (3.46%); of the 428 foetuses, only 154 had trisomy 13, 18 or 21. In the pregnant women with abnormal MSS, 111 foetuses had abnormal karyotype, but only 36 foetuses had trisomy 13, 18 or 21. We conclude that (1) ultrasound is an important approach to prevent the birth of foetuses with chromosomal disease. (2) Non-invasive prenatal DNA detection cannot completely replace invasive prenatal diagnosis and MSS. (3) The strategies of prenatal diagnosis: Genetic amniocentesis is strongly recommended for the pregnant women with indications for genetic amniocentesis. For pregnant women who refuse invasive prenatal diagnosis, non-invasive prenatal DNA detection is first performed. If the results of non-invasive prenatal DNA detection are negative, the pregnant women are followed up by ultrasound; if the results of non-invasive prenatal DNA detection are positive, the pregnant women should undergo invasive prenatal diagnosis.

  1. Prenatal diagnosis of lethal osteogenesis imperfecta in twin pregnancy.

    Science.gov (United States)

    Morin, L R; Herlicoviez, M; Loisel, J C; Jacob, B; Feuilly, C; Stanescu, V

    1991-06-01

    Lethal osteogenesis imperfecta was diagnosed at 27 weeks amenorrea in one fetus of a bichorial twin pregnancy. Sonographic findings included: short-limb dwarfism, hypotrophy and hypoechoic bones. The affected fetus was so translucent that only the normal fetus could be seen on plain in utero radiography. The affected fetus died immediately after birth. Postmortem radiography and histology were typical of lethal osteogenesis imperfecta of type IIA. Aids to the etiological diagnosis of in utero dwarfism are presented. Sonographic features correlated with neonatal death are described.

  2. Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

    Science.gov (United States)

    Tong, Yu K.; Yuen, Tony; Jiang, Peiyong; Pina, Christian; Chan, K. C. Allen; Khattab, Ahmed; Liao, Gary J. W.; Yau, Mabel; Kim, Se-Min; Chiu, Rossa W. K.; Sun, Li; Zaidi, Mone

    2014-01-01

    Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition that arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. To prevent genital ambiguity in affected female fetuses, prenatal treatment with dexamethasone must begin on or before gestational week 9. Currently used chorionic villus sampling and amniocentesis provide genetic results at approximately 14 weeks of gestation at the earliest. This means that mothers who want to undergo prenatal dexamethasone treatment will be unnecessarily treating seven of eight fetuses (males and three of four unaffected females), emphasizing the desirability of earlier genetic diagnosis in utero. Objective: The objective of the study was to develop a noninvasive method for early prenatal diagnosis of fetuses at risk for CAH. Patients: Fourteen families, each with a proband affected by phenotypically classical CAH, were recruited. Design: Cell-free fetal DNA was obtained from 3.6 mL of maternal plasma. Using hybridization probes designed to capture a 6-Mb region flanking CYP21A2, targeted massively parallel sequencing (MPS) was performed to analyze genomic DNA samples from parents and proband to determine parental haplotypes. Plasma DNA from pregnant mothers also underwent targeted MPS to deduce fetal inheritance of parental haplotypes. Results: In all 14 families, the fetal CAH status was correctly deduced by targeted MPS of DNA in maternal plasma, as early as 5 weeks 6 days of gestation. Conclusions: MPS on 3.6 mL plasma from pregnant mothers could potentially provide the diagnosis of CAH, noninvasively, before the ninth week of gestation. Only affected female fetuses will thus be treated. Our strategy represents a generic approach for noninvasive prenatal testing for an array of autosomal recessive disorders. PMID:24606108

  3. Prenatal diagnosis of chondrodysplasia punctata tibia-metacarpal type using multidetector CT and three-dimensional reconstruction

    Energy Technology Data Exchange (ETDEWEB)

    Miyazaki, Osamu [National Centre for Child Health and Development, Department of Radiology, Tokyo (Japan); Nishimura, Gen [Tokyo Metropolitan Kiyose Children' s Hospital, Department of Radiology, Tokyo (Japan); Sago, Haruhiko; Watanabe, Noriyoshi; Ebina, Shunsuke [National Centre for Child Health and Development, Department of Perinatal Medicine and Maternal Care, Tokyo (Japan)

    2007-11-15

    We report a case of chondrodysplasia punctata tibia-metacarpal type (CDP-TM) that was diagnosed prenatally using multidetector CT (MDCT) with three-dimensional (3-D) CT reconstructions. Prenatal US had shown severe thoracic hypoplasia and rhizomelic shortening of the limbs, raising the suspicion of thanatophoric dysplasia. However, MDCT showed punctate calcifications in the epiphyseal cartilage of the humeri and femora, carpal bones, and paravertebral region. On 3-D CT, the tibiae were much shorter than the fibulae, the humeri were very short and bowed, and severe platyspondyly was evident. These findings led to the diagnosis of CDP-TM. The diagnosis was confirmed on postnatal radiographs. Prenatal MDCT with 3-D images may make a useful contribution to prenatal diagnosis in selected fetuses with severe skeletal dysplasia. (orig.)

  4. Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

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    Nahar, Risha; Puri, Ratna D; Saxena, Renu; Verma, Ishwar C

    2013-01-01

    Surveys of attitudes of individuals with deafness and their families towards genetic testing or prenatal diagnosis have mostly been carried out in the West. It is expected that the perceptions and attitudes would vary amongst persons of different cultures and economic background. There is little information on the prevailing attitudes for genetic testing and prenatal diagnosis for deafness in developing countries. Therefore, this study evaluates the motivations of Indian people with inherited hearing loss towards such testing. Twenty-eight families with history of congenital hearing loss (23 hearing parents with child/family member with deafness, 4 couples with both partners having deafness and 1 parent and child with deafness) participated in a semi-structured survey investigating their interest, attitudes, and intentions for using genetic and prenatal testing for deafness. Participants opinioned that proper management and care of individuals with deafness were handicapped by limited rehabilitation facilities with significant financial and social burden. Nineteen (68%) opted for genetic testing. Twenty-six (93%) expressed high interest in prenatal diagnosis, while 19 (73%) would consider termination of an affected fetus. Three hearing couples, in whom the causative mutations were identified, opted for prenatal diagnosis. On testing, all the three fetuses were affected and the hearing parents elected to terminate the pregnancies. This study provides an insight into the contrasting perceptions towards hearing disability in India and its influence on the desirability of genetic testing and prenatal diagnosis.

  5. Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma.

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    Shan Dan

    Full Text Available Since the discovery of cell-free foetal DNA in the plasma of pregnant women, many non-invasive prenatal testing assays have been developed. In the area of skeletal dysplasia diagnosis, some PCR-based non-invasive prenatal testing assays have been developed to facilitate the ultrasound diagnosis of skeletal dysplasias that are caused by de novo mutations. However, skeletal dysplasias are a group of heterogeneous genetic diseases, the PCR-based method is hard to detect multiple gene or loci simultaneously, and the diagnosis rate is highly dependent on the accuracy of the ultrasound diagnosis. In this study, we investigated the feasibility of using targeted capture sequencing to detect foetal de novo pathogenic mutations responsible for skeletal dysplasia.Three families whose foetuses were affected by skeletal dysplasia and two control families whose foetuses were affected by other single gene diseases were included in this study. Sixteen genes related to some common lethal skeletal dysplasias were selected for analysis, and probes were designed to capture the coding regions of these genes. Targeted capture sequencing was performed on the maternal plasma DNA, the maternal genomic DNA, and the paternal genomic DNA. The de novo pathogenic variants in the plasma DNA data were identified using a bioinformatical process developed for low frequency mutation detection and a strict variant interpretation strategy. The causal variants could be specifically identified in the plasma, and the results were identical to those obtained by sequencing amniotic fluid samples. Furthermore, a mean of 97% foetal specific alleles, which are alleles that are not shared by maternal genomic DNA and amniotic fluid DNA, were identified successfully in plasma samples.Our study shows that capture sequencing of maternal plasma DNA can be used to non-invasive detection of de novo pathogenic variants. This method has the potential to be used to facilitate the prenatal diagnosis

  6. Challenges in the prenatal and post-natal diagnosis of mediastinal cystic hygroma: a case report

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    Nazir Sarfraz

    2008-08-01

    Full Text Available Abstract Introduction Cystic hygroma is a benign congenital neoplasm that mostly presents as a soft-tissue mass in the posterior triangle of the neck. Pure mediastinal lesions are uncommon; the vast majority are asymptomatic and are an incidental finding in adulthood. The diagnosis is often made intra- or postoperatively. Prenatal identification is exceptional and post-natal diagnosis also proves challenging. Case presentation We report one such case that was mistaken for other entities in both the prenatal and immediate post-natal period. Initial and follow-up antenatal ultrasound scans demonstrated a multicystic lesion in the left chest, and the mother was counselled about the possibility of her baby having a congenital diaphragmatic hernia. Initial post-natal chest radiographs were reported as normal. An echocardiogram and thoracic computed tomography scan confirmed a complex multiloculated cystic mediastinal mass. The working diagnoses were of a mediastinal teratoma or congenital cystic adenomatous malformation. At operation, the lesion was compressed by the left lung and was found to be close to the left phrenic nerve, which was carefully identified and preserved. After excision, histopathological examination of the mass confirmed the diagnosis of cystic hygroma. Postoperative dyspnoea was observed secondary to paradoxical movement of the left hemidiaphragm and probable left phrenic neuropraxia. This settled conservatively with excellent recovery. Conclusion Despite the fact that isolated intrathoracic cystic hygroma is a rare entity, it needs to be considered in the differential diagnosis of foetal and neonatal mediastinal masses, particularly for juxtadiaphragmatic lesions. The phrenic nerve is not identifiable on prenatal ultrasound imaging, and it is therefore understandable that a mass close to the diaphragm may be mistaken for a congenital diaphragmatic hernia because of the location, morphology and potential phrenic nerve compression

  7. Cytogenetic Prenatal Diagnosis in the Province of Cienfuegos between 2007 and 2010

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    Pedro Alí Díaz-Véliz Jiménez

    2012-11-01

    Full Text Available Background: cytogenetic prenatal diagnosis is nowadays part of the care provided in developed countries to high-risk pregnant women and is an indispensable component of preventive genetic programs driven by the World Health Organization. Objective: To present the results of cytogenetic prenatal diagnosis in the province of Cienfuegos. Methods: A chronological series study was developed at the Provincial Center of Medical Genetics of Cienfuegos on all cytogenetic prenatal diagnoses that were performed between 2007 and 2010. We analyzed causes of study, number of diagnoses and types of anomalies detected. Results: during the period analyzed, 1172 amniocentesis of pregnant patients were processed and 1076 of them were diagnosed for 91, 81 % efficiency. 85,5 % of the cases studied were women over 37 years old. 32 chromosomal abnormalities were detected. The order of frequency of chromosomal abnormalities among the positive cases was: numerical aberrations (65, 63 %, structural aberrations (18, 75 % and mosaics (15,63 %. The most common chromosomal abnormality was Down syndrome with 46,88 % of total aberrations detected. Conclusions: the indicators analyzed behave similarly to those reported in literature both from our country or international.

  8. Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis.

    Science.gov (United States)

    Lalatta, Faustina; Quagliarini, Donatella; Folliero, Emanuela; Cavallari, Ugo; Gentilin, Barbara; Castorina, Pierangela; Forzano, Francesca; Forzano, Serena; Grosso, Enrico; Viassolo, Valeria; Naretto, Valeria Giorgia; Gattone, Stefania; Ceriani, Florinda; Faravelli, Francesca; Gargantini, Luigi

    2010-10-01

    We report clinical and behavioural evaluation data in 42 Italian girls with triple X syndrome whose diagnosis was made prenatally between 1998 and 2006 in three Italian centres. At initial evaluation, reproductive and medical histories were collected. Clinical assessment of the child was performed by a clinical geneticist and included a detailed personal history, physical evaluation and auxological measurements. To analyse how parents coped with specific events in the prenatal and postnatal periods, we conducted an interview that included 35 specific questions designed to elicit retrospective judgements on prenatal communication, present and future worries, needs and expectations. In a subset of probands, we also administered the formal Italian Temperament Questionnaire assessment test that investigates adaptation, general environment and socialisation. This test also assesses the emotional component of temperament. Clinical results in the affected children are similar to those previously reported with evidence of increased growth in the pre-puberal age and an average incidence of congenital malformation and health needs. Median age for the time first words were pronounced was 12 months, showing a slight delay in language skills, which tended to improve by the time they reached school age. Parental responses to the interview demonstrated residual anxiety but with a satisfactory adaptation to and a positive recall of the prenatal counselling session. Parental adaptation of the 47,XXX girls require indeed a proper educational support. This support seems to be available in Italy. An integrated approach to prenatal counselling is the best way to manage the anxiety and falsely imagined consequences that parents feel after being told that their foetus bears such a genetic abnormality.

  9. EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.

    Science.gov (United States)

    Traeger-Synodinos, Joanne; Harteveld, Cornelis L; Old, John M; Petrou, Mary; Galanello, Renzo; Giordano, Piero; Angastioniotis, Michael; De la Salle, Barbara; Henderson, Shirley; May, Alison

    2015-04-01

    Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that identify couples at risk for having affected children, so that they can be offered options to have healthy offspring. Molecular diagnosis facilitates prenatal diagnosis and definitive diagnosis of carriers and patients (especially 'atypical' cases who often have complex genotype interactions). However, the haemoglobin disorders are unique among all genetic diseases in that identification of carriers is preferable by haematological (biochemical) tests rather than DNA analysis. These Best Practice guidelines offer an overview of recommended strategies and methods for carrier identification and prenatal diagnosis of haemoglobinopathies, and emphasize the importance of appropriately applying and interpreting haematological tests in supporting the optimum application and evaluation of globin gene DNA analysis.

  10. Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism

    OpenAIRE

    Huijsdens-van Amsterdam Karin; Barge-Schaapveld Daniela QCM; Mathijssen Inge B; Alders Mariëlle; Pajkrt Eva; Knegt Alida C

    2012-01-01

    Abstract Double aneuploidy mosaicism of two different aneuploidy cell lines is rare. We describe for the first time a double trisomy mosaicism, involving chromosomes 7 and 13 in a fetus presenting with multiple congenital anomalies. No evidence for chimerism was found by DNA genotyping. The origin of both trisomies are consistent with isodisomy of maternal origin. Therefore, it is most likely that the double trisomy mosaicism arose from two independent events very early in embryonic developme...

  11. PRENATAL DIAGNOSIS AND SCREENING OF GENETIC ABNORMALITIES IN EARLY PREGNANCY

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    Jyothi Kiran Kohli

    2016-11-01

    Full Text Available BACKGROUND Genetic diseases are one of the major causes of hospital admissions due to disability and mortality particularly among children (1:5 children of hospital admission either partially/completely as distribution of genetic diseases is not related to socioeconomic background, which implies that developing world has a large number of genetic diseases largely left uncared for, i.e. overall incidence of foetal/neonatal loss due to genetic/genetic environmental causes are as follows: 1:50 newborns have major congenital abnormality, 1:100 have a unifactorial disorder, 1:200 have a major chromosomal abnormality before birth. Diagnosis of chromosomal anomalies in foetus is one of the most important challenges in modern perinatology as invasive or noninvasive methods. The aim of the study is to review on cytogenetic evaluation of CVS obtained (transcervically during first trimester of pregnancy by direct karyotyping of tissue. MATERIALS AND METHODS This study was conducted in 2001 in Department of Anatomy along with Obstetrics and Gynaecology Department, LNJP Hospital. 37 healthy cases with 6-12 weeks of gestational age coming for medical termination of pregnancy were included in the study. After written informed consent for procedure, ultrasound-guided transcervical chorionic villus sampling was done (Brambati’s method. Tissue procured was then processed for direct karyotyping and studied. Metaphase spreads were photographed and karyotypes prepared and studied. RESULTS Out of 37 pregnant females, 30 samples were successfully prepared and processed by Direct method out of which 23 were normal female (46, XX and 7 were normal male (46, XY. No normal anomaly was detected. Best biopsies were obtained with 8-12 weeks gestation. G Banding could not be performed as chromosome obtained were found to be resistant to banding. CONCLUSIONS To summarise chromosome preparations obtained from CVS by Direct method has advantage of providing sufficient number

  12. Prenatal diagnosis of heterokaryotypic mosaic twins discordant for fetal sex.

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    Schmid, O; Trautmann, U; Ashour, H; Ulmer, R; Pfeiffer, R A; Beinder, E

    2000-12-01

    The presence of a monozygotic twin gestation with discordant sex of the twins is a very rare constellation, which is referred to as heterokaryotypic monozygotic pregnancy. This constellation can develop either due to a chromosomal aberration after twinning or is - as in the following case - due to a mitotic error before twinning and an unequal distribution of mosaicism in both embryos. So far the diagnosis of heterokaryotypic monozygotic pregnancy has always been made postnatally, with only one exception (Gonsoulin et al., 1990). In this case we suspected the presence of monozygotic twins ultrasonically because of the chorionic and amniotic membrane characteristics. Surprisingly the sex of the fetuses was discrepant. As one of them had hydrops and a structural heart defect, we carried out an amniocentesis, which revealed mosaicism [45,X/46,X,i(Y)(p10)] of both fetuses. The female fetus with a predominant 45,X set of chromosomes and the typical intrauterine signs of the Ullrich-Turner syndrome (massive hygroma colli, hydrops fetalis and multiple cardiac defects) died during the 25th week of gestation due to cardiac decompensation. The other fetus appeared to be male with a predominance of a 46,X,i(Y)(p10) set of chromosomes and was born a few days after the intrauterine death of the hydropic fetus. In conclusion, our observation shows that ultrasonic evidence of discordant fetal sex in twins does not necessarily exclude monozygosity. Copyright 2000 John Wiley & Sons, Ltd.

  13. Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound.

    Science.gov (United States)

    Castiñeyra, G; Panal, M; Lopez Presas, H; Goldschmidt, E; Sánchez, J M

    1992-01-01

    A girl with Wiedemann-Rautenstrauch syndrome was born to a non-consanguineous couple. During the pregnancy, growth retardation particularly in the biparietal and abdominal diameters but not the femoral length was detected through serial ultrasound scans. When the woman became pregnant again, in spite of having been assessed as having a 25% risk of recurrence, the prenatal findings seen in her previous pregnancy led us to suggest sequential echography and a similar pattern of growth retardation was shown. After termination, the male fetus was found to be affected by Wiedemann-Rautenstrauch syndrome. This case shows that ultrasound examination can be a useful tool in the prenatal diagnosis of this rare, autosomal recessive syndrome. Images PMID:1619643

  14. Prenatal diagnosis of a de novo inversion of chromosome (2)(p21q11).

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    Hengstschläger, M; Mittermayer, C; Prusa, A R; Drahonsky, R; Repa, C; Deutinger, J; Bernaschek, G

    2003-08-01

    Prenatal diagnosis of "apparently balanced" chromosomal rearrangements, if not inherited from a parent, are problematic for genetic counsellors and families. Although the parents need to be informed about the increased risk of multiple congenital anomalies, the anomalies that the fetus is at risk can not be discussed unless a similar breakpoint and accompanying phenotype have been reported in the literature. In the reported case prenatal ultrasound examination revealed a massive hydrocephalus internus and IUGR. The karyotype of the fetus was inv(2)(p21q11) de novo. Postmortem examination revealed short palpebral fissures, hypertelorism, atypical nasiolabial configuration, microgenia, extended position of the fingers, atypical proximal inserted first toe, hydrocephalus internus, hypoplasia of the cerebellum and bulbi olfactorii, bilateral hypoplastic lungs, atrial septal defect II, small right ventricle, dysplasia of the pulmonary valve, hypoplastic pulmonary artery, right proximal ureterostenosis, hypoplastic gall bladder. This is the first description of a de novo inversion (2)(p21q11) in a fetus with multiple malformations.

  15. Prenatal diagnosis of fetal hemivertebra at 20 weeks’ gestation with literature review

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    Michail Varras

    2010-07-01

    Full Text Available Michail Varras1, Christodoulos Akrivis21Obstetrics and Gynecology Department, “Elena Venizelou” General Maternity Hospital, Athens; 2Obstetrics and Gynecology Department, “G Chatzikosta” General State Hospital, Ioannina, GreeceAbstract: Hemivertebra is a rare congenital spinal malformation, where only one side of the vertebral body develops, resulting in deformation of the spine, such as scoliosis, lordosis, or kyphosis. We present the ultrasonographic features of a fetus with hemivertebra at 20 weeks’ gestation confirmed by post mortem radiography and pathological examination. The prenatal literature on this disorder is also reviewed. Useful background information is provided for both clinicians and other health professionals who are not familiar with this condition.Keywords: hemivertebra, congenital scoliosis, prenatal diagnosis, ultrasonography

  16. Prenatal diagnosis of the acute meconium peritonitis secondary to ileum volvulus perforation: a case report.

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    Keskin, Uğur; Karasahin, Kazım Emre; Ozturk, Mustafa; Atabek, Cüneyt; Demirbağ, Suzi; Ergün, Ali

    2015-02-01

    This is an unusual case in comparison to other sonographically described prenatal cases due to very early diagnosis and surgical intervention following prompt delivery. A 40-year-old pregnant, ultrasonography showed presence of cystic structure in the fetal abdomen that was consistent with intestinal dilatation. At 32 weeks' of gestation, repeat ultrasound showed collapse of the bowel dilatation along with the presence of hyperechogenic fluid in the fetal abdominal cavity. Cesarean section was performed. The clinical utility of this report is the recognition that meconium peritonitis (MP) may be diagnosed in the acute phase with typical ultrasound features, and should be considered in the differential diagnoses of cases presented with reduced fetal movements. Although it appears that morbidity and mortality in MP cases depend upon gestational age, this case report may help to manage similar cases for defining the appropriate delivery time and treatment modality after prenatal identification of the problem.

  17. The value of fast MR imaging as an adjunct to ultrasound in prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Breysem, L.; Bosmans, H.; Dymarkowski, S.; Demaerel, P.; Vanbeckevoort, D.; Smet, M. [Department of Radiology, University Hospitals, Herestraat 49, 3000, Leuven (Belgium); Schoubroeck, D.Van; Witters, I.; Deprest, J. [Department of Obstetrics and Gynecology, University Hospitals, Herestraat 49, 3000, Leuven (Belgium); Vanhole, C.; Casaer, P. [Department of Pediatrics, University Hospitals, Herestraat 49, 3000, Leuven (Belgium)

    2003-07-01

    The aim of this study was to evaluate the role of MR imaging of the fetus to improve sonographic prenatal diagnosis of congenital anomalies. In 40 fetuses (not consecutive cases) with an abnormality diagnosed with ultrasound, additional MR imaging was performed. The basic sequence was a T2-weighted single-shot half Fourier (HASTE) technique. Head, neck, spinal, thoracic, urogenital, and abdominal fetal pathologies were found. This retrospective, observational study compared MR imaging findings with ultrasonographic findings regarding detection, topography, and etiology of the pathology. The MR findings were evaluated as superior, equal to, or inferior compared with US, in consent with the referring gynecologists. The role of these findings in relation to pregnancy management was studied and compared with postnatal follow-up in 30 of 40 babies. Fetal MRI technique was successful in 36 of 39 examinations and provided additional information in 21 of 40 fetuses (one twin pregnancy with two members to evaluate). More precise anatomy and location of fetal pathology (20 of 40 cases) and additional etiologic information (8 of 40 cases) were substantial advantages in cerebrospinal abnormalities [ventriculomegaly, encephalocele, vein of Galen malformation, callosal malformations, meningo(myelo)cele], in retroperitoneal abnormalities (lymphangioma, renal agenesis, multicystic renal dysplasia), and in neck/thoracic pathology [cervical cystic teratoma, congenital hernia diaphragmatica, congenital cystic adenomatoid lung malformation (CCAM)]. This improved parental counseling and pregnancy management in 15 pregnancies. In 3 cases, prenatal MRI findings did not correlate with prenatal ultrasonographic findings or neonatal diagnosis. The MRI provided a more detailed description and insight into fetal anatomy, pathology, and etiology in the vast majority of these selected cases. This improved prenatal parental counseling and postnatal therapeutic planning. (orig.)

  18. Prenatal diagnosis of thalassemia and hemoglobinopathies in Thailand: experience from 100 pregnancies.

    Science.gov (United States)

    Fucharoen, S; Winichagoon, P; Thonglairoam, V; Siriboon, W; Siritanaratkul, N; Kanokpongsakdi, S; Vantanasiri, C

    1991-03-01

    In this review, we describe a simple strategy to detect the three severe thalassemic diseases commonly found in Thailand. Hb Bart's hydrops fetalis can be detected unambiguously by ultrasonography at 18-20 weeks of gestation or detected early in the first trimester by the gene amplification technique. Prenatal diagnosis for homozygous beta-thalassemia is better performed in the second trimester by in vitro protein synthesis. This is because the molecular defects of some beta-thalassemias are still unknown and homozygosity of the same mutation is low. In contrast, beta-thalassemia/Hb E is easily detected, in the first trimester, by direct visualization on electrophoresis or by dot blot analysis of enzymatically amplified DNA with a set of nonradioactively labeled oligonucleotide probes complementary to the most common mutations. We also found that the beta/gamma synthesis ratio in homozygous Hb E is similar to that of beta-thalassemia/Hb E and DNA analysis is the only method to distinguish these two conditions in the couple at risk of having either beta-thalassemia/Hb E or asymptomatic homozygous Hb E. In 100 pregnancies studied, the diagnoses were achieved in 96 pregnancies. Complications leading to fetal loss were found in 3 pregnancies: one woman developed amnionitis after fetal blood sampling; one had amniotic fluid leakage after the biopsy, and the third, carrying a normal fetus, aborted 10 days after fetal blood sampling with urinary tract infection and high fever. However, these figures are compatible with other reports and the risks are significantly lower than that of thalassemic disease the fetus is facing. One case of beta-thalassemia/Hb E was incorrectly diagnosed prenatally as being Hb E trait. In twenty-five pregnancies (25%) prenatally diagnosed to carry affected fetuses it was decided to have abortion. This study shows the feasibility of prenatal diagnosis for thalassemic diseases in Thailand which, in addition to screening and genetic counseling

  19. Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes

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    Rubio, Eva I.; Blask, Anna; Bulas, Dorothy I. [Children' s National Health System, Department of Radiology, Washington, DC (United States)

    2016-05-15

    Craniosynostosis syndromes are uncommonly encountered in the prenatal period. Identification is challenging but important for family counseling and perinatal management. This series examines prenatal findings in craniosynostosis syndromes, comparing the complementary roles of US and MRI and emphasizing clues easily missed in the second trimester. Six prenatal cases evaluated from 2002 through 2011 were retrospectively reviewed. Referral history, gestational age, and sonographic and MRI findings were reviewed by three pediatric radiologists. Abnormalities of the calvarium, hands, feet, face, airway and central nervous system were compared between modalities. The diagnosis was Apert syndrome in three, Pfeiffer syndrome in two and Carpenter syndrome in one. The gestational age at evaluation ranged from 21 to 33 weeks. All six were evaluated by MRI and US, with two undergoing repeat evaluation in the third trimester, yielding a total of eight MRIs and US exams. The referral history suggested cloverleaf skull in two cases but did not suggest craniosynostosis syndrome in any case. In four, the referral suggested central nervous system (CNS) findings that were not confirmed by MRI; additional CNS findings were discovered in the remaining two. In four cases, developing turricephaly resulted in a characteristic ''lampshade'' contour of the fetal head. Hypertelorism and proptosis were present in five, with proptosis better appreciated by MRI. Digit abnormalities were present in all, seen equally well by MRI and US. Lung abnormalities in the second trimester in one fetus resolved by the third trimester. Prenatal diagnosis of craniosynostosis syndromes is difficult prior to the third trimester. MRI and US have complementary roles in evaluation of these patients. (orig.)

  20. Detection of fetal mutations causing hemoglobinopathies by non-invasive prenatal diagnosis from maternal plasma

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    E D′Souza

    2013-01-01

    Full Text Available Background: Prenatal diagnosis of hemoglobinopathies enables couples at risk to have a healthy child. Currently used fetal sampling procedures are invasive with some risk of miscarriage. A non-invasive approach to obtain fetal deoxyribonucleic acid (DNA for diagnosis would eliminate this risk. Aim: To develop and evaluate a non-invasive prenatal diagnostic approach for hemoglobinopathies using cell-free fetal DNA circulating in the maternal plasma. Settings and Design: Couples referred to us for prenatal diagnosis of hemoglobinopathies where the maternal and paternal mutations were different were included in the study. Materials and Methods: Maternal peripheral blood was collected at different periods of gestation before the invasive fetal sampling procedure was done. The blood was centrifuged to isolate the plasma and prepare DNA. A size separation approach was used to isolate fetal DNA. Nested polymerase chain reaction (PCR-based protocols were developed for detection of the presence or absence of the paternal mutation. Results and Conclusions: There were 30 couples where the parental mutations were different. Of these, in 14 cases the paternal mutation was absent and in 16 cases it was present in the fetus. Using cell-free fetal DNA from maternal plasma, the absence of the paternal mutation was accurately determined in 12 of the 14 cases and the presence of the paternal mutation was correctly identified in 12 of the 16 cases. Thus, this non-invasive approach gave comparable results to those obtained by the conventional invasive fetal sampling methods in 24 cases giving an accuracy of 80.0%. Although the nested PCR approach enabled amplification of small quantities of cell-free DNA from maternal plasma at different periods of gestation after size separation to eliminate the more abundant maternal DNA, an accurate diagnosis of the presence or absence of the paternal mutation in the fetus was not possible in all cases to make it clinically

  1. Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes

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    Daniela Cardoso Pereira

    2013-01-01

    Full Text Available Treacher-Collins syndrome (TCS is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis.

  2. Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes.

    Science.gov (United States)

    Pereira, Daniela Cardoso; Bussamra, Luiz Claudio Silva; Araujo Júnior, Edward; Drummond, Carolina Leite; Nardozza, Luciano Marcondes Machado; Moron, Antonio Fernandes; Aldrighi, José Mendes

    2013-01-01

    Treacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS) is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS) has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis.

  3. Prenatal Diagnosis of Fetal Encephalomalacia after Maternal Diabetic Ketoacidosis

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    Rozalyn Love

    2014-11-01

    Full Text Available Introduction - Encephalomalacia in a developing fetus is a rare and devastating neurological finding on radiologic imaging. Maternal diabetic ketoacidosis (DKA can lead to metabolic and vascular derangements which can cause fetal encephalomalacia. Case - We report the case of a 27-year-old pregnant woman with White's Class C diabetes mellitus who presented in the 25th week of gestation with DKA. Four weeks after her discharge, marked fetal cerebral ventriculomegaly was noted on ultrasound. A subsequent fetal magnetic resonance imaging (MRI demonstrated extensive, symmetric cystic encephalomalacia, primarily involving both cerebral hemispheres. The pregnancy was continued with close fetal and maternal surveillance. The patient underwent a repeat cesarean delivery in her 37th week. The infant had a 1 month neonatal intensive care unit stay with care rendered by a multiple disciplinary team of pediatric subspecialists. The postnatal course was complicated by global hypotonia, poor feeding, delayed development and ultimately required anticonvulsants for recurrent seizures. He died at the age of 9 months from aspiration during a seizure. Discussion - Although the maternal mortality from DKA has declined, DKA still confers significant neurological fetal morbidity to its survivors.

  4. Male Partners’ Involvement Towards Prenatal Screening And Diagnostic Testing For Down Syndrome

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    Niken Kusumaningrum

    2015-03-01

    Full Text Available Introduction: Now, male partners’ involvement in prenatal screening and diagnostic testing for Down syndrome is becoming increasingly recognized as well to ensure that parents are well informed of the risks and benefits of screening. The aim of study was to understand the degree of male partners’ involvement during pregnancy in Singapore population. Methods: A cross-sectional survey of male partners’ attending prenatal counseling was performed. The instrument used to measure the level of involvement is a self-assessment questionnaire that identifies the role of male partners with a Likert scale. Descriptive statistics was used to analyze data gained. Result: A total of 107 participants completed the questionnaire. Sixty-seven percent of male partners were found to have a highlevel of involvement while 32.7% was found to have a medium level of involvement. Most of them stated that women can pursue prenatal testing without their permission. Male partners found it more important for them to accompany their spouse to amniocentesis or CVS than to the Down syndrome screening test. When participants were asked about how much information about Down syndrome they sought prior to the appointment, how much discussion they had with their spouse about Down syndrome testing, and about whether they or their spouse should be the first person to receive test results, most stated that they were undecided. Conclusion: These results revealed that male partners were very well involved in the Down syndrome testing during pregnancy and future studies should assess possible underlying factors that influence male partners’ involvement.

  5. Utility of ultrasound and magnetic resonance imaging in prenatal diagnosis of placenta accreta: A prospective study

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    Bhawna Satija

    2015-01-01

    Full Text Available Context: Placenta accreta is the abnormal adherence of the placenta to the uterine wall and the most common cause for emergency postpartum hysterectomy. Accurate prenatal diagnosis of affected pregnancies allows optimal obstetric management. Aims: To summarize our experience in the antenatal diagnosis of placenta accreta on imaging in a tertiary care setup. To compare the accuracy of ultrasound (USG with color Doppler (CDUS and magnetic resonance imaging (MRI in prenatal diagnosis of placenta accreta. Settings and Design: Prospective study in a tertiary care setup. Materials and Methods: A prospective study was conducted on pregnant females with high clinical risk of placenta accreta. Antenatal diagnosis was established based on CDUS and MRI. The imaging findings were compared with final diagnosis at the time of delivery and/or pathologic examination. Statistical Analysis Used: The sensitivity, specificity, positive predictive value (PPV, and negative predictive value (NPV were calculated for both CDUS and MRI. The sensitivity and specificity values of USG and MRI were compared by the McNemar test. Results: Thirty patients at risk of placenta accreta underwent both CDUS and MRI. Eight cases of placenta accreta were identified (3 vera, 4 increta, and 1 percreta. All patients had history of previous cesarean section. Placenta previa was present in seven out of eight patients. USG correctly identified the presence of placenta accreta in seven out of eight patients (87.5% sensitivity and the absence of placenta accreta in 19 out of 22 patients (86.4% specificity. MRI correctly identified the presence of placenta accreta in 6 out of 8 patients (75.0% sensitivity and absence of placenta accreta in 17 out of 22 patients (77.3% specificity. There were no statistical differences in sensitivity (P = 1.00 and specificity (P = 0.687 between USG and MRI. Conclusions: Both USG and MRI have fairly good sensitivity for prenatal diagnosis of placenta accreta

  6. Utility of ultrasound and magnetic resonance imaging in prenatal diagnosis of placenta accreta: A prospective study

    Science.gov (United States)

    Satija, Bhawna; Kumar, Sanyal; Wadhwa, Leena; Gupta, Taru; Kohli, Supreethi; Chandoke, Rajkumar; Gupta, Pratibha

    2015-01-01

    Context: Placenta accreta is the abnormal adherence of the placenta to the uterine wall and the most common cause for emergency postpartum hysterectomy. Accurate prenatal diagnosis of affected pregnancies allows optimal obstetric management. Aims: To summarize our experience in the antenatal diagnosis of placenta accreta on imaging in a tertiary care setup. To compare the accuracy of ultrasound (USG) with color Doppler (CDUS) and magnetic resonance imaging (MRI) in prenatal diagnosis of placenta accreta. Settings and Design: Prospective study in a tertiary care setup. Materials and Methods: A prospective study was conducted on pregnant females with high clinical risk of placenta accreta. Antenatal diagnosis was established based on CDUS and MRI. The imaging findings were compared with final diagnosis at the time of delivery and/or pathologic examination. Statistical Analysis Used: The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated for both CDUS and MRI. The sensitivity and specificity values of USG and MRI were compared by the McNemar test. Results: Thirty patients at risk of placenta accreta underwent both CDUS and MRI. Eight cases of placenta accreta were identified (3 vera, 4 increta, and 1 percreta). All patients had history of previous cesarean section. Placenta previa was present in seven out of eight patients. USG correctly identified the presence of placenta accreta in seven out of eight patients (87.5% sensitivity) and the absence of placenta accreta in 19 out of 22 patients (86.4% specificity). MRI correctly identified the presence of placenta accreta in 6 out of 8 patients (75.0% sensitivity) and absence of placenta accreta in 17 out of 22 patients (77.3% specificity). There were no statistical differences in sensitivity (P = 1.00) and specificity (P = 0.687) between USG and MRI. Conclusions: Both USG and MRI have fairly good sensitivity for prenatal diagnosis of placenta accreta; however

  7. Prenatal diagnosis of Chiari malformation with syringomyelia in the second trimester.

    Science.gov (United States)

    Iruretagoyena, Jesus Igor; Trampe, Barbara; Shah, Dinesh

    2010-02-01

    Routine anatomic ultrasound performed in the second trimester has a detection rate of approximately 70-90% for fetal congenital abnormalities (Nyberg and Souter, J Ultrasound Med 2001;6:655-674). The central nervous system abnormalities are one of the most common ones detected. Chiari malformation is among the CNS abnormalities diagnosed in the fetal period (Bianchi et al., Fetology - diagnosis and management of the fetal patient, McGraw-Hill, 2000). The Arnold-Chiari malformation was first described in 1883 by Cleland (Romero et al., Prenatal diagnosis of congenital anomalies, Appleton and Lange, 1988). It is characterised by the prolapse of the hindbrain structures below the level of the foramen magnum. It can be associated with skeletal abnormalities and neurological dysfunction. In type I, a lip of cerebellum is downwardly displaced with the tonsils, but the fourth ventricle remains in the posterior fossa. This condition may coexist with syringomyelia, which is a cyst formation on the cervical portion of the spinal cord (Creasy et al., Maternal fetal medicine principles and practice, 2004). We present a case where Chiari type 1 and syringomyelia detected at 18 weeks of gestation. The reason for referral to our center was an abnormal inward posturing of both upper and lower extremities (minimal gross movement and almost inexistent range of motion on fetal joints). On further fetal evaluation, an abnormal brain ultrasound was identified. Prenatal diagnosis of Chiari type 1 malformation and syringomyelia is almost nonexistent when reviewing the literature is the reason why this case is presented.

  8. [Non invasive prenatal diagnosis. Fetal nucleic acid analysis in maternal blood].

    Science.gov (United States)

    Sesarini, Carla; Argibay, Pablo; Otaño, Lucas

    2010-01-01

    Current prenatal diagnosis of monogeneic and chromosomal diseases, includes invasive procedures which carry a small but significant risk. For many years, analysis of fetal cells in maternal circulation has been studied, however it has failed its clinical use due to the scarcity of these cells and their persistance after delivery. For more than a decade, the presence of cell-free fetal DNA in maternal blood has been identified. These fetal DNA fragments would derive from the placenta and are not detected after delivery, making them a source of fetal material for carrying out diagnosis techniques using maternal blood. However, the vast majority of cell free DNA in maternal circulation is of maternal origin, with the fetal component contributing from 3% to 6% and rising towards term. Available methodologies do not allow separation of fetal from maternal cell free DNA, so current applications have been focused on the analysis of genes not present in the mother, such as Y chromosome sequences, or RHD gene in RhD-negative women, or paternal or de novo mutations. Also, the detection of cell-free fetal RNA in maternal blood offers the possibility of obtaining information regarding genetic expression profiles of embrionic tissues, and using genes expressed only at the feto-placental unit, controls for the presence of fetal material could be established, regardless of maternal genetic tissue. The present article describes the evidences regarding the passage of fetal nucleic acids to maternal circulation, its current prenatal diagnosis application and possible future perspectives.

  9. Prenatal diagnosis of a fetus with ring chromosomal 15 by two- and three-dimensional ultrasonography.

    Science.gov (United States)

    Britto, Ingrid Schwach Werneck; Regina Silva Herbest, Sandra; Tedesco, Giselle Darahem; Drummond, Carolina Leite; Bussamra, Luiz Claudio Silva; Araujo Júnior, Edward; Ruano, Rodrigo; Ruano, Simone Hernandez; Aldrighi, José Mendes

    2014-01-01

    We report on a prenatal diagnosis of ring chromosome 15 in a fetus with left congenital diaphragmatic hernia (CDH) and severe intrauterine growth restriction (IUGR). A 31-year-old woman, gravida 2 para 1, was referred because of increased nuchal translucency at gestational age of 13 weeks. Comprehensive fetal ultrasound examination was performed at 19 weeks revealing an early onset IUGR, left CDH with liver herniation, and hypoplastic nasal bone. Three-dimensional ultrasound (rendering mode) showed low set ears and depressed nasal bridge. Amniocentesis was performed with a result of a 46,XX,r(15) fetus after a cytogenetic study. A 1,430 g infant (less than third percentile) was born at 36 weeks. The infant presented with respiratory failure and died at 2 h of life. Postnatal karyotype from the umbilical cord confirmed the diagnosis of 15-ring chromosome. We described the main prenatal 2D- and 3D-ultrasound findings associated with ring chromosome 15. The interest in reporting the present case is that CDH can be associated with the diagnosis of 15-ring chromosome because the critical location of the normal diaphragm development is at chromosome 15q26.1-q26.2.

  10. Prenatal diagnosis of trisomy 21, 18 and 13 by quantitative pyrosequencing of segmental duplications.

    Science.gov (United States)

    Tong, H; Jin, Y; Xu, Y; Zou, B; Ye, H; Wu, H; Kumar, S; Pitman, J L; Zhou, G; Song, Q

    2016-11-01

    Chromosomal aberration mostly occurs in chromosomes 21, 18 and 13, with an incidence approximately 1 out of 160 live births in humans, therefore making prenatal diagnosis necessary in clinics. Current methods have drawbacks such as time consuming, high cost, complicated operations and low sensitivity. In this paper, a novel method for rapid and accurate prenatal diagnosis of aneuploidy is proposed based on pyrosequencing, which quantitatively detects the peak height ratio (PHR) of different bases of segmental duplication. A direct polymerase chain reaction (PCR) approach was undertaken, where a small volume of amniotic fluid was used as the starting material without DNA extraction. Single-stranded DNA was prepared from PCR products and subsequently analyzed using pyrosequencing. The PHR between target and reference chromosome of 2.2 for euploid and 3:2 for a trisomy fetus were used as reference. The reference intervals and z scores were calculated for discrimination of aneuploidy. A total of 132 samples were collected, within trisomy 21 (n = 11), trisomy 18 (n = 3), trisomy 13 (n = 2), and unaffected controls (n = 116). A set of six segmental duplications were chosen for analysis. This method had consistent results with karyotyping analysis, a correct diagnosis with 100% sensitivity and 99.9% specificity. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  11. Amniocentesis increases level of anxiety in women with invasive prenatal diagnosis of Down syndrome

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    Yanuarita Tursinawati

    2015-08-01

    Full Text Available Backgound Invasive prenatal diagnosis (PND through amniocentesis and chorionic villus sampling (CVS can detect Down syndrome. Pregnant women usually experience a variety of psychological responses associated with invasive PND. This study is intended to assess depression, anxiety and stress levels and the factors related to their psychological responses in pregnant women with invasive prenatal diagnosis of Down syndrome. Methods A cross sectional study was conducted at Kandang Kerbau Women’s and Children’s Hospital, Singapore. The psychological responses of 70 women undergoing PND were assessed by Depression Anxiety Stress Scale 21 (DASS 21 questionnaire. A multiple linear regression analysis was used to analyze association between knowledge and perceived risk with psychological responses (CI 95% and significance value p13 weeks who had pursued amniocentesis. Women with no previous children had higher levels of depression and stress. Women who pursued amniocentesis had significantly higher anxiety scores compared to women undergoing CVS (p=0.015. Conclusions Women’s psychological responses are associated with gestational age, type of procedure and parity. The level of anxiety increased in women who underwent amniocentesis for diagnosis of Down syndrome. Knowledge and perceived risk of having a baby with Down syndrome do not seem to have psychological effects to women.

  12. Amniocentesis increases level of anxiety in women with invasive prenatal diagnosis of Down syndrome

    Directory of Open Access Journals (Sweden)

    Yanuarita Tursinawati

    2015-12-01

    Full Text Available Backgound Invasive prenatal diagnosis (PND through amniocentesis and chorionic villus sampling (CVS can detect Down syndrome. Pregnant women usually experience a variety of psychological responses associated with invasive PND. This study is intended to assess depression, anxiety and stress levels and the factors related to their psychological responses in pregnant women with invasive prenatal diagnosis of Down syndrome. Methods A cross sectional study was conducted at Kandang Kerbau Women’s and Children’s Hospital, Singapore. The psychological responses of 70 women undergoing PND were assessed by Depression Anxiety Stress Scale 21 (DASS 21 questionnaire. A multiple linear regression analysis was used to analyze association between knowledge and perceived risk with psychological responses (CI 95% and significance value p13 weeks who had pursued amniocentesis. Women with no previous children had higher levels of depression and stress. Women who pursued amniocentesis had significantly higher anxiety scores compared to women undergoing CVS (p=0.015. Conclusions Women’s psychological responses are associated with gestational age, type of procedure and parity. The level of anxiety increased in women who underwent amniocentesis for diagnosis of Down syndrome. Knowledge and perceived risk of having a baby with Down syndrome do not seem to have psychological effects to women.

  13. Prenatal cytogenic and ultrasonographic diagnosis of Patau´s Syndrome. Case report

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    Pedro Alí Díaz-Véliz Jiménez

    2016-10-01

    Full Text Available The cytogenetic diagnosis of trisomy 13th is infrequent. It may present as a free trisomy, translocation or in combination of both. Due to the need of counting on reports of this genetic disturbance, a case Patau´s syndrome is presented, detected by prenatal cytogenic and ultrasonographic diagnosis, in a 19 year-old pregnant woman with positive findings in ultrasound (increased nuchal translucency, prominence of facial mass and asymmetry of the four cardiac cavities. It was confirmed by specialists of the Provincial Center of medical genetic of Cienfuegos. It was proposed to perform a cytogenetic prenatal diagnosis which resulted in a female fetus with free trisomy of chromosome 13 (47, XX, +13. The woman was informed and it was decided to interrupt her pregnancy. The report of Pathologic anatomy informed of an orifice in the upper lip which continued to the upper part of the mouth due to the absence of hard palate (Cleft lip accompanied by cleft palate, polydactyly in the left hand (six fingers Congenital cardiopathy due to reduced aortic diameter and dextroposed, hypoplasia in the left cavities, basal media Intraventicular communicación with wide ductus and permeable, so as prominence in the facial mass.

  14. Attitudes of families affected by adrenoleukodystrophy toward prenatal diagnosis, presymptomatic and carrier testing, and newborn screening.

    Science.gov (United States)

    Schaller, Jean; Moser, Hugo; Begleiter, Michael L; Edwards, Janice

    2007-01-01

    Families affected by adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) were surveyed to elicit attitudes toward prenatal, presymptomatic and carrier testing, and newborn screening in order to determine the level of support that these families have for current and future genetic testing protocols. Identifying attitudes toward genetic testing, including newborn screening, is especially important because of new data regarding therapeutic options and the possible addition of ALD to newborn screening regimens. The Kennedy Krieger Institute (KKI) database identified 327 prospective participants. Families that were willing to participate in the study received an anonymous questionnaire for completion. Frequencies were generated using SPSS software for Windows. Questionnaires were returned from 128 families for a response rate of 39%. Sons who were at risk for inheriting the ALD gene would be tested by 93% of respondents, and 89.3% would ideally have this testing performed prenatally or in the newborn period. Eighty-nine percent would test an at-risk daughter and 51.2% would ideally have this testing performed prenatally or shortly after birth. ALD newborn screening for males and females was supported by 90% of respondents. If newborn screening for ALD/AMN commences, or there is a new diagnosis of ALD, genetic professionals need to be prepared to have extensive conversations with families regarding the benefits and limitations of current therapeutic and genetic testing options.

  15. Globalization of DNA-based prenatal diagnosis for recessive dystrophic epidermolysis bullosa.

    Science.gov (United States)

    Wessagowit, V; Chunharas, A; Wattanasirichaigoon, D; McGrath, J A

    2007-11-01

    Globalization of economies and improvements in international telecommunications has led to increased demand for better access to the latest developments in healthcare, wherever they may be available. In this report, we describe the first case from Thailand of DNA-based prenatal testing of a mother at risk for recurrence of severe recessive dystrophic epidermolysis bullosa (RDEB), whose affected child had died in early childhood. In the absence of previous access to prenatal diagnostic tests, the mother had undergone several terminations for fear of having another affected child. To prevent this happening again, DNA from the mother and her consanguineous partner was sent from Bangkok to a specialist laboratory at St John's Institute of Dermatology in London and screened for pathogenic mutations in the COL7A1 gene: both individuals were shown to be heterozygous carriers of a splice-site mutation, c.2440G --> C. In a subsequent pregnancy, amniocentesis was performed at 18 weeks' gestation in Bangkok, and fetal DNA was extracted and sent to London for analysis. Restriction endonuclease digestion of the amplified fetal DNA revealed the wild-type COL7A1 sequence only, and 5 months later, a clinically unaffected boy was born. This case represents the first example of DNA-based prenatal diagnosis for RDEB in Thailand and illustrates the benefits for patients in establishing international links with diagnostic centres with technological expertise that is not widely available in certain countries.

  16. Prenatal Diagnosis and Outcome of Fetuses with Double-Inlet Left Ventricle

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    Monisha Gidvani

    2011-12-01

    Full Text Available The aim of this study is to characterize the in utero presentation of the subtype of double-inlet left ventricle (DILV, a rare congenital heart disease, and assess the postnatal outcome. We retrospectively studied fetuses diagnosed prenatally with DILV between 2007 and 2011. We reviewed the prenatal and postnatal echocardiograms, clinical presentations, karyotypes, and the postnatal outcomes. There were eight fetuses diagnosed with DILV with L-transposition of the great vessels (S, L, L. Mean gestational age at diagnosis was 24.7 weeks. Of these, four fetuses (50% had pulmonary atresia. One fetus (12.5% also had tricuspid atresia and coarctation of the aorta and died at 17 months of age. Complete heart block and long QT syndrome was present in one fetus (12.5%, who died shortly after birth. There were no extracardiac or karyotypic abnormalities. Six (75% infants are alive and doing well. Double-inlet left ventricle with varied presentation can be accurately diagnosed prenatally. The outcome of fetuses is good in the absence of associated rhythm abnormalities with surgically staged procedures leading to a Fontan circulation.

  17. Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

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    Srebniak Malgorzata I

    2012-03-01

    Full Text Available Abstract Background We have investigated whether replacing conventional karyotyping by SNP array analysis in cases of foetal ultrasound abnormalities would increase the diagnostic yield and speed of prenatal diagnosis in clinical practice. Findings/results From May 2009 till June 2011 we performed HumanCytoSNP-12 array (HCS (http://www.Illumina.com analysis in 207 cases of foetal structural abnormalities. HCS allows detecting unbalanced genomic abnormalities with a resolution of about 150/200 kb. All cases were selected by a clinical geneticist after excluding the most common aneuploidies by RAD (rapid aneuploidy detection. Pre-test genetic counselling was offered in all cases. In 24/207 (11,6% foetuses a clinically relevant genetic abnormality was detected. Only 8/24 abnormalities would have been detected if only routine karyotyping was performed. Submicroscopic abnormalities were found in 16/207 (7,7% cases. The array results were achieved within 1-2 weeks after amniocentesis. Conclusions Prenatal SNP array testing is faster than karyotyping and allows detecting much smaller aberrations (~0.15 Mb in addition to the microscopic unbalanced chromosome abnormalities detectable with karyotyping (~ > 5 Mb. Since karyotyping would have missed 66% (16/24 of genomic abnormalities in our cohort, we propose to perform genomic high resolution array testing assisted by pre-test counselling as a primary prenatal diagnostic test in cases of foetal ultrasound abnormalities.

  18. Prenatal Diagnosis of a Congenital Postaxial Longitudinal Limb Defect: A Case Report

    Science.gov (United States)

    Pauleta, Joana; Melo, Maria Antonieta; Graça, Luís Mendes

    2010-01-01

    Introduction. Although congenital longitudinal fibular deficiency is one of the most common long bone deficiencies, there are few published cases of its prenatal diagnosis. Case report. A right longitudinal deficiency of the fibula associated with tibial shortening, foot equinovalgus, and absence of the fourth and fifth foot rays diagnosed at 22 weeks gestation is described. Sequential ultrasonographic surveillance was performed without obstetric complications. The anomaly was confirmed after birth, and conservative orthopaedic management was decided. Conclusion. Though rarely seen, postaxial longitudinal limb defect may be detected by ultrasound. The correct approach can only be decided after birth, when the functional impact of the anomaly can be fully evaluated. PMID:20592750

  19. Prenatal diagnosis of fetal aortopulmonary septal defect with ventricular septal defect by two-dimension echocardiography

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    @@ Fetal aortopulmonary septal defect (APSD) is an extremely rare condition, accounting for 0.1%-0.2% of all cardiac defects in live births world wide.1 Hospital mortality is 13% and 33% for simple and complex APSD, respectively.2 This rare cardiac defect refers to a congenital malformation in the development of the arteriosus truncus septum, and is usually associated with a wide variety of other structural cardiac anomalies such as ventricular septal defect (VSD), pulmonary valve stegnosis and so on.3 Prenatal diagnosis of an APSD is possible by echocardiography.

  20. Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

    DEFF Research Database (Denmark)

    Therkelsen, A J; Jensen, P K; Hertz, Jens Michael;

    1988-01-01

    First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after transabdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99.1 per cent and in all...... of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic...

  1. Prenatal diagnosis of Langer-Giedion Syndrome confirmed by BACs-on-Beads technique.

    Science.gov (United States)

    Piotrowski, Krzysztof; Halec, Wojciech; Wegrzynowski, Jerzy; Pietrzyk, Aleksandra; Henkelman, Małgorzata; Zajaczek, Stanisław

    2014-01-01

    Langer-Giedion Syndrome (LGS), with characteristic phenotypic features including craniofacial dysmorphic signs, postnatal growth retardation and skeletal abnormalities, mental impairment, urogenital malformations and heart defects, is caused by partial deletions of the long arm of chromosome 8. We present a case of a female fetus with LGS. The diagnosis was molecularly proven with the BACs on Beads method at 32 weeks of gestation. To the best of our knowledge, prenatal recognition of that genetic defect had previously been made in only one case. Also, it has never been described before.

  2. Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics

    Energy Technology Data Exchange (ETDEWEB)

    Toth-Fejel, S.; Magenis, R.E.; Leff, S. [Oregon Health Sciences Univ., Portland, OR (United States)] [and others

    1995-02-13

    With improvements in culturing and banding techniques, amniotic fluid studies now achieve a level of resolution at which the Prader-Willi syndrome (PWS) and Angelman syndrome (AS) region may be questioned. Chromosome 15 heteromorphisms, detected with Q- and R-banding and used in conjunction with PWS/AS region-specific probes, can confirm a chromosome deletion and establish origin to predict the clinical outcome. We report four de novo cases of an abnormal-appearing chromosome 15 in amniotic fluid samples referred for advanced maternal age or a history of a previous chromosomally abnormal child. The chromosomes were characterized using G-, Q-, and R-banding, as well as isotopic and fluorescent in situ hybridization of DNA probes specific for the proximal chromosome 15 long arm. In two cases, one chromosome 15 homolog showed a consistent deletion of the ONCOR PWS/AS region A and B. In the other two cases, one of which involved an inversion with one breakpoint in the PWS/AS region, all of the proximal chromosome 15 long arm DNA probes used in the in situ hybridization were present on both homologs. Clinical follow-up was not available on these samples, as in all cases the parents chose to terminate the pregnancies. These cases demonstrate the ability to prenatally diagnose chromosome 15 abnormalities associated with PWS/AS. In addition, they highlight the need for a better understanding of this region for accurate prenatal diagnosis. 41 refs., 5 figs.

  3. Awareness among parents of β-thalassemia major patients, regarding prenatal diagnosis and premarital screening.

    Science.gov (United States)

    Ishaq, Fouzia; Abid, Hasnain; Kokab, Farkhanda; Akhtar, Adil; Mahmood, Shahid

    2012-04-01

    To assess the knowledge among parents of thalassemia major patients about prenatal diagnosis, premarital screening for carrier detection and impact of consanguineous marriage on disease transmission. Descriptive study. The Thalassemia Centre, Sir Ganga Ram Hospital, Lahore, from July to September 2009. One hundred and fifteen parents of β-thalassemia major patients were enrolled in this study. A questionnaire was developed and parents were interviewed to assess their knowledge about preventive measures against thalassemia major. Parents of patients with all other types of blood disorder were excluded from the study. There were 74 male (64.3%) and 41 female (35.7) patients with mean age of 9.5 ± 5.1 years. Eighty-eight patients (76.5%) were accompanied by mothers and the rest by their fathers. Seventy-four parents (32.1%) were illiterate; among the literates only 7 were highly educated (3%). Ninety-four couples (81.7%) had consanguineous marriage. Fiftytwo parents (44.6%) knew that thalassemia is an inherited disorder. Thirty-eight (33%) had heard about the test for detecting thalassemia carrier. Premarital screening and prenatal diagnosis was known to 97 (84.3%) and 88 (76.5%) parents respectively. Ninety-nine parents (86.1%) knew about the termination of pregnancy on positive prenatal test but only 69 considered it acceptable religiously (60%). Major source of information to the parents were doctors. Parental knowledge about thalassemia and its preventive measures was inadequate; this requires intervention in the form of public health education programs concentrating on high risk/targeted population.

  4. Sacrococcygeal teratoma: Case report, from prenatal diagnosis to resection and primary reconstruction

    Directory of Open Access Journals (Sweden)

    Paulina Menchaca S.

    2013-04-01

    Full Text Available INTRODUCTION: Sacrococcygeal teratoma (SCT is an uncommon pediatric condition (1 case per 27,000 live births, nevertheless, it is the most frequent neoplasia diagnosed at fetal age. Higher access to obstetric ultrasound allows prenatal diagnosis, appropriate planning, study and multidisciplinary treatment of these patients. CASE REPORT: In a routine obstetric evaluation, patient presented a heterogeneous, cystic mass in the sacrococcygeal region. A SCT was suspected, and an elective cesarean delivery was planned to term gestational age. The patient was delivered without complications, with a 15 cm sacrococcygeal mass. Imaging revealed an Altman II SCT, and serum tumor markers were measured. By the ninth day of life, surgery was performed with tumor and coccyx complete resection, pelvic floor reconstruction and primary closure. Postoperatively, the patient made a good recovery without digestive or neurological complications. The biopsy revealed a mature teratoma with minor immature neuroepithelial foci, without atypical cells. DISCUSSION: The prenatal diagnosis in SCT allows appropriate counseling of parents, derivation to specialized centers, and could identify high-risk patients for early interruption of gestation, taking into account a mortality rate as high as 16%. Preoperative classification is important for both treatment and prognosis. There is not enough evidence to recommend chemotherapy for the treatment of mature or immature benign teratomas. In this case, close long-term follow-up will be important to rule out recurrence, and urinary and fecal incontinence.

  5. Prenatal diagnosis for beta-thalassemia major in the Iranian Province of Hormozgan.

    Science.gov (United States)

    Nikuei, Pooneh; Hadavi, Valeh; Rajaei, Minoo; Saberi, Mozhgan; Hajizade, Fozieh; Najmabadi, Hossein

    2008-01-01

    beta-Thalassemias are a group of heterogenous recessive disorders common in many parts of the world. Despite the great advances in the treatment of thalassemia, there is so far no cure, but perhaps bone marrow transplantation (BMT) is a possibility. Prevention, using prenatal diagnosis and selective abortion in the cases where the fetus is found to be affected, should be considered as a sensible alternative. During the past 5 years, 112 couples have been referred to our Center for detection of their beta-thalassemia (beta-thal) carrier status. In this group, common and rare mutations were detected. Of these, 106 couples (94.6%) came for counseling during pregnancy and six (5.4%) came before becoming pregnant. Prenatal diagnosis was performed for the 106 couples at risk. Fetal DNA was obtained from both chorionic villus sampling (CVS) (99) and amniotic fluid (7). Using reverse hybridization, 64 (60.4%) were found to be heterozygous for a beta-thal mutation and 24 (22.6%) were normal. Eighteen (17.0%) were found to carry an affected fetus and these pregnancies were terminated.

  6. Prenatal diagnosis by chorionic villus sampling in multiple pregnancies prior to fetal reduction.

    Science.gov (United States)

    De Catte, L; Camus, M; Bonduelle, M; Liebaers, I; Foulon, W

    1998-05-01

    Ovulation induction and assisted-reproduction techniques have dramatically increased the incidence of high-risk multiple pregnancies over the past 10 years. Perinatal outcome may be improved by the use of multifetal reduction. The fetus to be reduced used to be selected only on technical grounds. We report on the results of prenatal diagnosis by chorionic villus sampling (CVS) during the first trimester in 32 multifetal pregnancies in which fetal reduction was requested. The mean gestational age at CVS was 10.5 weeks. Chromosomal analyses were available for all sampled fetuses, three of which were chromosomally abnormal. In 24 couples, fetal reduction to twin pregnancies was successfully carried out within 1 week after the CVS. In seven cases, the couples elected not to proceed with fetal reduction after receiving information that the chromosomal analysis was normal in all fetuses. Mean gestational ages at delivery were, respectively, 34.6 and 31.8 weeks in the reduced and the nonreduced groups (p = 0.04). No fetal losses occurred in either group; one neonatal death was observed after a preterm delivery because of preeclampsia in a twin pregnancy. Prenatal cytogenetic diagnosis during the first trimester in multiple pregnancies prior to fetal reduction appears to be feasible, accurate, and safe. Abnormal chromosomal results indicate the fetus(es) to be reduced. The parents' decisions not to proceed with the fetal reduction procedure, where chromosomal results in all the fetuses were normal, were unexpected.

  7. Application of Fetal DNA in Maternal Plasma in Noninvasive Prenatal Diagnosis

    Institute of Scientific and Technical Information of China (English)

    赵茵; 邹丽

    2004-01-01

    Summary: To explore the application of fetal DNA in maternal plasma for noninvasive prenatal diagnosis, the DNA template was extracted by hydroxybenzene-chloroform from 44 maternal (7-41weeks) plasma. The Fetus-derived Y sequence DYZ-1 gene (149bp) was chosen to be amplified by PCR. The fragment was identified in all the plasma of male bearing pregnant women with the diagnostic accordance rate being 100.00 %. Two of the 22 female bearing pregnant women had false positive results. Among the 44 pregnant women, the diagnostic accordance rate was 88. 89 % at early pregnant stage, 100.00 % at medium pregnant stage, and 96.55 % at late stage respectively.The final accuracy of 95. 45 % was obtained in all cases. It was concluded that by means of hydroxybenzene-chloroform extraction the authors of this article promoted the concentration and purity of the DNA template, and diagnosed more accurately. The results showed that free fetal DNA in the maternal plasma could be regarded as the gene resource for noninvasive prenatal diagnosis.

  8. Early and rapid prenatal diagnosis of monosomy 2q36.1 in trophoblast cells.

    Science.gov (United States)

    Tachdjian, Gérard; Aboura, Azzedine; Brisset, Sophie; Dommergues, Marc; Gajdos, Vincent; Labrune, Philippe

    2006-01-01

    CVS is the earliest procedure for cytogenetic analysis but the quality of metaphases obtained does not allow the characterization of subtle chromosomal anomalies. We report the application interphase fluorescence in situ hybridization for the rapid prenatal diagnosis of a subtle structural chromosome anomaly in trophoblast cells. The foetus was karyotyped because of a paternal complex chromosomal anomaly 46,XY,inv(2)(q14.3q35),ins(10;2)(q25;q36.1q36.1). Fluorescence in situ hybridization analyses were performed on interphase nuclei and metaphase chromosomes from uncultured chorionic villi using bacterial artificial chromosomes specific for the 2q chromosomal region. Direct conventional cytogenetics showed an apparently normal male karyotype, whereas fluorescence in situ hybridization analysis showed a deletion of the chromosomal region 2q36.1 and a paracentric inversion of the chromosome 2q leading to a partial monosomy 2q36.1. This strategy allowed us to offer an early and rapid chromosomal analysis for this couple leading to a better management of the pregnancy. This report demonstrates that interphase fluorescence in situ hybridization can be used in direct CVS for a rapid and early prenatal diagnosis of complex chromosomal rearrangements. 2006 S. Karger AG, Basel

  9. Dynamic mutation analysis of a SCA3 Chinese Han family and prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    LI Jing

    2012-06-01

    Full Text Available Objective To explore the clinical features, genetic characters and the importance of prenatal diagnosis in spinocerebellar ataxia 3 (SCA3 patients. Methods SCA3/ATXN3 gene was determined by using PCR and segmental analysis techniques in 2 patients among a SCA3 Chinese Han family which included 9 patients in four generations. One patient was the proband's fetus. The clinical characters were also documented and analyzed in this family. Results There were 9 patients in this family with autosomal dominant inheritance feature. The initial symptoms in all affected members except the fetus were the gait disorders accompanied by dysphasia. Inability of upward gaze and bilateral Barbinski's signs were noted in proband. The onset age became earlier from generation to generation in this family which was around 50 year-old, 40 to 45 year-old, 28 year-old in generation Ⅰ, Ⅱ and Ⅲ, respectively. CAG repeats in SCA3/ATXN3 allele were 77 in proband, as well as in the fetus, while the normal SCA3/ATXN3 allele CAG repeats were less than 44. Conclusion SCA3 is the most frequent subtype of SCA in Asian. Unsteadiness of gait are first noted in most patients accompanied by other different symptoms and signs. Genetic anticipation was found in SCA3. But gene analysis revealed less dynamic mutation frequence in this family. Since there was no effective treatment in SCA3, hereditary consultation and prenatal diagnosis play an important role in disease prevention and hereditary.

  10. Prenatal diagnosis of abnormal umbilical cord insertion: a rare case of furcate insertion.

    Science.gov (United States)

    Fujita, Yasuyuki; Yumoto, Yasuo; Kato, Kiyoko

    2017-04-01

    Furcate insertion (FI) is an extremely rare abnormality of umbilical cord insertion. One of the complications associated with FI is hemorrhage from the umbilical vein at the site of FI of the umbilical cord, which can cause sudden intrauterine fetal death. Because of its rarity, no prenatal diagnosis of FI has been reported. A 31-year-old woman at 34 weeks' gestation was referred to us for suspected abnormal cord insertion. Ultrasonography showed normal fetal growth and amniotic fluid volume, with no fetal anomalies. Although the umbilical cord contained three vessels inserted at the center of the placenta, the umbilical vessels separated from the cord substance before their insertion to the placenta. Based on these findings, the patient was diagnosed with FI. During labor at 37 weeks' gestation, fetal heart rate was normal and a healthy neonate was delivered. At macroscopic examination, the umbilical cord was inserted in the middle of the placenta, and the placental parenchymal tissue just under the cord insertion was deficient and had been changed to white, elastic hard tissue. Pathological examination of the white tissue revealed fibrin deposition and focal infarction. Although FI is a very rare condition, prenatal diagnosis can be achieved through detailed color Doppler ultrasound studies. Therefore, taking precautions and keeping in mind the poor fetal outcome associated with FI are preferred.

  11. Prenatal diagnosis and outcome of right aortic arch without significant intracardiac anomaly.

    Science.gov (United States)

    Razon, Yaron; Berant, Michael; Fogelman, Rami; Amir, Gabriel; Birk, Einat

    2014-12-01

    Right aortic arch (RAA) is usually associated with the presence of a significant congenital heart disease, usually a conotruncal defect, which determines the postnatal outcome. In the absence of such cardiac defects, the significance of RAA has not been determined. The aims of this study were to evaluate the significance of recognizing RAA in fetuses with normal or near normal intracardiac anatomy and to determine which associations may be present. A retrospective study was completed of all fetuses diagnosed with RAA with normal or near normal intracardiac anatomy between 1999 and 2011. The aim was to evaluate the presence of RAA with complete ultrasonic evaluation using two-dimensional imaging complemented by the Doppler color flow technique, paying particular attention to the three-vessel and tracheal view. We compared the prenatal findings with the postnatal outcomes and management of this cohort of fetuses. Among 16,450 fetal echocardiograms, 58 fetuses (0.35%) were diagnosed with RAA with normal or near normal intracardiac anatomy. Gestational age at diagnosis ranged from 19 to 34 weeks (mean, 23 weeks). Isolated RAAs were found in 50 fetuses, and double aortic arches (DAAs) were recognized in eight other cases. The postnatal cohort consisted of 44 newborns with RAAs and eight with DAAs (two were lost to follow-up, and four pregnancies were terminated). Postnatal echocardiography confirmed the prenatal diagnosis of RAA in 41 of 45 children, and four were found to have DAAs. Three of seven fetuses diagnosed prenatally as having DAAs were found to have only RAAs. Fourteen fetuses underwent karyotyping; two had 22q11 deletion and two had 47xxy. Eleven infants (21%) had respiratory symptoms, eight with DAAs, one with RAA, mirror-image head and neck vessels, and two with RAAs and aberrant left subclavian arteries. Surgery was indicated in all symptomatic patients except one, whose symptoms resolved. One asymptomatic patient underwent operation for significant

  12. Health behaviour modelling for prenatal diagnosis in Australia: a geodemographic framework for health service utilisation and policy development

    Directory of Open Access Journals (Sweden)

    Halliday Jane L

    2006-09-01

    Full Text Available Abstract Background Despite the wide availability of prenatal screening and diagnosis, a number of studies have reported no decrease in the rate of babies born with Down syndrome. The objective of this study was to investigate the geodemographic characteristics of women who have prenatal diagnosis in Victoria, Australia, by applying a novel consumer behaviour modelling technique in the analysis of health data. Methods A descriptive analysis of data on all prenatal diagnostic tests, births (1998 and 2002 and births of babies with Down syndrome (1998 to 2002 was undertaken using a Geographic Information System and socioeconomic lifestyle segmentation classifications. Results Most metropolitan women in Victoria have average or above State average levels of uptake of prenatal diagnosis. Inner city women residing in high socioeconomic lifestyle segments who have high rates of prenatal diagnosis spend 20% more on specialist physician's fees when compared to those whose rates are average. Rates of prenatal diagnosis are generally low amongst women in rural Victoria, with the lowest rates observed in farming districts. Reasons for this are likely to be a combination of lack of access to services (remoteness and individual opportunity (lack of transportation, low levels of support and income. However, there are additional reasons for low uptake rates in farming areas that could not be explained by the behaviour modelling. These may relate to women's attitudes and choices. Conclusion A lack of statewide geodemographic consistency in uptake of prenatal diagnosis implies that there is a need to target health professionals and pregnant women in specific areas to ensure there is increased equity of access to services and that all pregnant women can make informed choices that are best for them. Equally as important is appropriate health service provision for families of children with Down syndrome. Our findings show that these potential interventions are

  13. Prenatal diagnosis of congenital toxoplasmosis: comparative value of fetal blood and amniotic fluid using serological techniques and cultures.

    Science.gov (United States)

    Fricker-Hidalgo, H; Pelloux, H; Muet, F; Racinet, C; Bost, M; Goullier-Fleuret, A; Ambroise-Thomas, P

    1997-09-01

    The prenatal diagnosis of congenital toxoplasmosis is mainly based on biological tests performed on fetal blood and amniotic fluid. We studied the performance of neonatal diagnosis procedures and the results of fetal blood and amniotic fluid analysis. Of 127 women who contracted toxoplasmosis and underwent prenatal diagnosis, the postnatal serological follow-up was long enough to definitively diagnose congenital toxoplasmosis in 19 cases and to exclude it in 27 cases. Prenatal diagnosis allowed the detection of 94.7 per cent (18/19) of the infected fetuses. The sensitivities of tests in amniotic fluid and fetal blood were equivalent, 88.2 per cent (15/17) and 87.5 per cent (14/16), respectively. In fetal blood, biological techniques were positive in 12/16 cases and in 2/16 cases, serological tests were the only positive sign. The specificities of tests in amniotic fluid and fetal blood were respectively 100 per cent (23/23) and 86.3 per cent (19/22) (three false-positive serological results). These results, added to the lower morbidity of amniocentesis compared with cordocentesis, might lead to cordocentesis being abandoned in the prenatal diagnosis of congenital toxoplasmosis.

  14. KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.

    Science.gov (United States)

    Ke, Hai-Ping; Jiang, Hu-Ling; Lv, Ya-Su; Huang, Yi-Zhou; Liu, Rong-Rong; Chen, Xiao-Ling; Du, Zhen-Fang; Luo, Yu-Qin; Xu, Chen-Ming; Fan, Qi-Hui; Zhang, Xian-Ning

    2014-08-01

    Epidermolytic palmoplantar keratoderma (EPPK) is the most frequent form of such keratodermas. It is inherited in an autosomal dominant pattern and is clinically characterized by diffuse yellowish thickening of the skin on the palms and soles with erythematous borders during the first weeks or months after birth. EPPK is generally caused by mutations of the KRT9 gene. More than 26 KRT9 gene mutations responsible for EPPK have been described (Human Intermediate Filament Database, www.interfil.org), and many of these variants are located within the highly-conserved coil 1A region of the α-helical rod domain of keratin 9. Unfortunately, there is no satisfactory treatment for EPPK. Thus, prenatal molecular diagnosis or pre-pregnancy diagnosis is crucial and benefits those affected who seek healthy descendants. In the present study, we performed amniotic fluid-DNA-based prenatal testing for three at-risk pregnant EPPK women from three unrelated southern Chinese families who carried the KRT9 missense mutations p.Arg163Trp and p.Arg163Gln, and successfully helped two families to bear normal daughters. We suggest that before the successful application of preimplantation genetic diagnosis (PGD), and noninvasive prenatal diagnosis of EPPK that analyzes fetal cells or cell-free DNA in maternal blood, prenatal genetic diagnosis by amniocentesis or chorionic villus sampling (CVS) offers a quite acceptable option for EPPK couples-at-risk to avoid the birth of affected offspring, especially in low- and middle-income countries.

  15. 产前MRI诊断胎盘植入%Prenatal MRI diagnosis of placental invasion

    Institute of Scientific and Technical Information of China (English)

    陈春梅; 张军

    2011-01-01

    Objective To investigate the characteristics and diagnostic value of MRI for placental invasion. Methods Fourteen consecutive patients with placental invasion were analyzed retrospectively. MRI characteristics were reviewed and the diagnostic value was observed. Results All of 14 patients were confirmed with placental invasion at delivery. The presence of placental invasion was identified 11 patients (11/14, 78.57%) with MRI, but missed in 3 patients (3/14, 21.43%). MRI showed irregular and heterogeneous placenta, thinner and discontinuous of uterine walls, and if bladder was involved, irregular appearance of the bladder wall. The uterine cervical orifices were completely or partly covered by placenta, sometimes there were bleeding or hematoma signs with hyperintensity on T1WI and hypointensity on T2WI. Con-clnsion MRI is valuable for prenatal diagnosis of placental invasion.%目的 探讨胎盘植入的MRI表现特点及产前诊断价值.方法 回顾性分析胎盘植入患者14例,总结其MRI图像特点及诊断价值.结果 14例证实为胎盘植入的患者,产前MRI疑诊11例(11/14,78.57%)胎盘植入,表现为胎盘不均匀增厚,部分或完全覆盖子宫颈口;胎盘植入部子宫壁明显变薄,局部胎盘与子宫壁分界不清,可穿透子宫壁,侵袭邻近器官(如膀胱);可见T1WI高信号、T2WI低信号出血或血肿影;3例(3/14,21.43%)MRI未见确切胎盘植入征象.结论 产前MRI对于诊断胎盘植入具有重要价值.

  16. The prospect and current situation of prenatal diagnosis in mainland China%中国大陆产前诊断的现状和前景

    Institute of Scientific and Technical Information of China (English)

    王斌

    2006-01-01

    @@ 1 The history and main problems in prenatal diagnosis and clinical diagnosis of inherited diseases Prenatal diagnosis is to diagnose the fetal congenital defects and inherited diseases. In the earlier 1970s, the group of prenatal diagnosis in Peking Union Hospital was founded by Dr. Qiao-zhi LIN.Meanwhile, under the leadership of Dr. LIN, the group successfully completed the culture of amniotic fluid cells and began to diagnose fetal chromosomal diseases in the second trimester of pregnancy. In 1988, they succeeded in diagnosing chromosomal diseases by taking the chorionic villus in the early pregnancy. Since then, the genetic and prenatal counseling to those women who previously had children with severe defects were gradually developed. The work of the Peking Union Hospital developed prenatal diagnosis in our country.

  17. Fetal blood sampling in twin pregnancies. Prenatal diagnosis and management of 19 cases.

    Science.gov (United States)

    Cox, W L; Forestier, F; Capella-Pavlovsky, M; Daffos, F

    1987-01-01

    Twin pregnancies pose particular problems in both prenatal diagnosis and obstetric management. We present 19 twin pregnancies that underwent fetal blood sampling (FBS). The indications were mostly similar to those for singleton pregnancies, with both fetuses being sampled. There was one indication specific to twin pregnancies; disseminated intravascular coagulation in the retained twin after the death-in-utero (DIU) of the other. In 5 cases, only 1 twin was sampled; in 2 because the second twin was female in the diagnosis of an X-linked disorder; in 1 because of technical failure, and in 2 the other twin had predeceased. Eight pregnancies continued after the FBS delivering 2 live, healthy infants, though 5 were delivered before 37 weeks of gestation. In 7 cases there was a discordance in the diagnosis between the twins. In 3 of these cases the affected fetus underwent selective termination by air embolism; in 2 cases the pregnancies were continued and the affected twin not resuscitated; 1 pregnancy is still in progress, and 1 patient had a non-medically supervised termination of both twins in another country. Two patients miscarried within a week of the FBS. Two patients had only 1 living twin at the time of FBS; 1 had a second DIU a month after the FBS and the other a neonatal death at 11 days of age in an infant with severe porencephaly. FBS is technically feasible for similar indications as for singleton pregnancies though discordance in diagnosis raises specific management problems.

  18. Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential

    Directory of Open Access Journals (Sweden)

    Harvey J. Stern

    2014-03-01

    Full Text Available Preimplantation genetic diagnosis was developed nearly a quarter-century ago as an alternative form of prenatal diagnosis that is carried out on embryos. Initially offered for diagnosis in couples at-risk for single gene genetic disorders, such as cystic fibrosis, spinal muscular atrophy and Huntington disease, preimplantation genetic diagnosis (PGD has most frequently been employed in assisted reproduction for detection of chromosome aneuploidy from advancing maternal age or structural chromosome rearrangements. Major improvements have been seen in PGD analysis with movement away from older, less effective technologies, such as fluorescence in situ hybridization (FISH, to newer molecular tools, such as DNA microarrays and next generation sequencing. Improved results have also started to be seen with decreasing use of Day 3 blastomere biopsy in favor of polar body or Day 5 trophectoderm biopsy. Discussions regarding the scientific, ethical, legal and social issues surrounding the use of sequence data from embryo biopsy have begun and must continue to avoid concern regarding eugenic or inappropriate use of this technology.

  19. Primary prevention of hemoglobinopathies by prenatal diagnosis and selective pregnancy termination in a Muslim country: Oman

    Directory of Open Access Journals (Sweden)

    Suha Mustafa Hassan

    2014-11-01

    Full Text Available Hemoglobinopathies (HBP are the most common genetic disorder in Oman and are in need of prevention programs due to the high incidence of β-thalassemia major and sickle cell disease. Prenatal diagnosis (PD and selective pregnancy termination is shown to be the most effective prevention tool for the control of HBP. However, PD is not available in Oman thus far because abortion is subject to religious, cultural and ethical issues. We have examined the attitude of a number of Omani HBP carrier couples towards prenatal diagnosis and selective abortion. We have interviewed 35 couples at risk visiting the main premarital clinic in Muscat between Jan 2011 and Jan 2012. Couples were interviewed using a pre-structured questionnaire. The majority would have accepted prenatal diagnosis (94% if the service would be available in the country but pregnancy termination was greatly influenced by religious values. 血红蛋白病(HBP)是一种在阿曼最常见的遗传性疾病,由于其高发的B型地中海贫血症及镰状细胞症,相关的预防措施对于这一国家来说,相当重要。产前诊断(PD)和选择性终止妊娠被证实是针对管控血红蛋白病(HBP)的最有效方法。然而,由于受到宗教、文化和伦理抵制堕胎的影响,产前诊断(PD)并不能在该国得以应用。我们对该国一部分血红蛋白病患夫妇做了一项关于产前诊断的意向调查。2011年一月至2012年一月,我们在马斯喀特(阿曼首都)的一家婚前诊所对35对夫妇做了相关的采访调查。调查的问卷是事先设置好的。大部分(94%)夫妇表示接受产前诊断如果相应的措施能得到广泛的普及,但是他们对于选择性终止妊娠的态度受到了其宗教价值观的极大影响。

  20. Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations.

    Science.gov (United States)

    Wallerstein, Robert; Misra, Sonya; Dugar, R Bryce; Alem, Monika; Mazzoni, Ronit; Garabedian, Matthew J

    2015-09-01

    Genetic counseling for prenatal diagnosis of autosomal trisomy is complex because of the uncertainty of outcome, which is important for management decisions. Compilation of cases of prenatally diagnosed autosomal trisomies in amniocytes has been done previously in an attempt to elucidate the clinical phenotype of these pregnancies. It has been greater than a decade since these studies were completed. To update this work, we reviewed cases reported in the literature since that time. These cases are correlated with the prior reports to increase knowledge about outcomes and to hopefully improve the data available for genetic counseling. The risk of abnormal outcome can be summarized as: very high risk (>60%) for 47,+2/46; 47,+9/46; 47,+16/46; 47,+20/46; and 47,+22/46; high risk (40-59%) for 47,+5/46; 47,+14/46; and 47,+15/46; moderately high risk (20-39%) for 47,+7/46 47,+12/46; and 47,+17/46; moderate risk (up to 19%) for 47,+6/46 and 47,+8/46, and none were low risk. 47,+6/46 was originally indeterminate, 47,+7/46 was originally moderate risk, 47,+9/46 was originally high risk, and 47,+17/46 was originally low risk. © 2015 John Wiley & Sons, Ltd.

  1. Prenatal diagnosis of spina bifida: from intracranial translucency to intrauterine surgery.

    Science.gov (United States)

    Sepulveda, Waldo; Wong, Amy E; Sepulveda, Francisco; Alcalde, Juan L; Devoto, Juan C; Otayza, Felipe

    2017-07-01

    Accurate and timely prenatal diagnosis of spina bifida (SB) is a major goal of modern antenatal care. Prenatal screening for open SB should be first performed at the time of routine first-trimester ultrasound by examining the posterior fossa for obliteration or non-visualization of the fourth ventricle ("intracranial translucency") and cisterna magna. The second step of screening is the second-trimester anatomy scan, at which time the features of the Chiari type II malformation should be looked for, including ventriculomegaly, scalloping of the frontal bones ("lemon" sign), and backward and caudal displacement of the cerebellar vermis with obliteration of the cisterna magna ("banana" sign). In cases with positive findings, evaluation must include a focused examination of the spine for defects. In cases of closed SB and SB occulta, the cranial and posterior fossa features will not be present as they are not associated with leaking of spinal fluid and resultant hindbrain herniation, highlighting the fact that the spine should be examined thoroughly whenever possible during the second-trimester scan. In tertiary fetal medicine centers, two-dimensional and three-dimensional ultrasound allows an accurate determination of the location, type, extent, and upper level of the spinal defect as well as the presence of associated anomalies. Fetal magnetic resonance imaging should be restricted to candidates for intrauterine surgery as part of the preoperative protocol.

  2. [Prenatal diagnosis with fetal cells in maternal blood: report of experiences in Basal].

    Science.gov (United States)

    Holzgreve, W; Troeger, C; Schatt, S; Vial, Y; Louwen, F; Gloning, K; Hahn, S

    1998-10-24

    Currently prenatal diagnosis relies on invasive procedures such as chorion villus sampling (CVS) or amniocentesis (AC). Many parents are reluctant to expose themselves and their child to the small, but significant risk posed by these procedures to mother and child. There is, hence, a great need for a risk-free non-invasive alternative. To achieve this goal most research has been focussed on enriching fetal cells from the blood of pregnant women. The erythroblast has emerged as the target cell of choice, since it is abundant in the early fetus, rare in normal adult blood, and since it has a very short half life, there is no risk of obtaining cells from previous pregnancies. Most enrichment protocols rely either on magnetic- or fluorescent activated cell sorting (MACS and FACS) using fetal specific antibodies. These enriched cells can be examined by FISH (fluorescence in-situ hybridisation) for the presence of the most common fetal chromosomal aneuploidies (13, 18, 21, X and Y) or by polymerase chain reaction (PCR) on singly manipulated cells for genetic disorders. The efficacy in detecting fetal aneuploidies is currently being evaluated in a phase II clinical trial under the auspices of the NIH-NICHD, the so-called NIFTY Trial, in which our group is a participant. By modifying our enrichment protocols we have recently been able to obtain detection sensitivities of almost 80%, thereby renewing our optimism that this methodology provides a solid basis for an effective non-invasive prenatal diagnostic test.

  3. Same-day prenatal diagnosis of common chromosomal aneuploidies using microfluidics-fluorescence in situ hybridization.

    Science.gov (United States)

    Ho, Sherry S Y; Chua, Cuiwen; Gole, Leena; Biswas, Arijit; Koay, Evelyn; Choolani, Mahesh

    2012-04-01

    Rapid molecular prenatal diagnostic methods, such as fluorescence in situ hybridization (FISH), quantitative fluorescence-PCR, and multiplex ligation-dependent probe amplification, can detect common fetal aneuploidies within 24 to 48 h. However, specific diagnosis or aneuploidy exclusion should be ideally available within the same day as fetal sampling to alleviate parental anxiety. Microfluidic technologies integrate different steps into a microchip, saving time and costs. We have developed a cost-effective, same-day prenatal diagnostic FISH assay using microfluidics. Amniotic fluids (1-4 mL from 40 pregnant women at 15-22 weeks of gestation) were fixed with Carnoy's before loading into the microchannels of a microfluidic FISH-integrated nanostructured device. The glass slides were coated with nanostructured titanium dioxide to facilitate cell adhesion. Pretreatment and hybridization were performed within the microchannels. Fifty nuclei were counted by two independent analysts, and all results were validated with their respective karyotypes. Of the 40 samples, we found three cases of fetal aneuploidies (trisomies 13, 18, and 21), whereas the remaining 37 cases were normal. Results were concordant with their karyotypes and ready to be released within 3 h of sample receipt. Microfluidic FISH, using 20-fold less than the recommended amount of probe, is a cost-effective method to diagnose common fetal aneuploidies within the same day of fetal sampling.

  4. FISH of uncultured amniocytes for prenatal diagnosis: Experience in 24 cases using commercially available probes

    Energy Technology Data Exchange (ETDEWEB)

    Weremowicz, S.; Sandstrom, M.McH.; Walsh, K.A. [Harvard Medical School, Boston, MA (United States)] [and others

    1994-09-01

    Rapid prenatal diagnosis of chromosomal aneuploidies is being requested increasingly by physicians at our institution. We report our experience in providing rapid diagnoses in prenatal samples referred following an abnormal ultrasound examination (n=22) and for confirmation of trisomy 21 prior to selective termination in a twin gestation (n=22). Uncultured amniocytes (46,XY) and cultured lymphocytes (46,SY) were used as control cells and a DXZ1 probe was hybridized separately from the test probes as a control probe. In 23 cases our FISH interpretation was concordant with the cytogenetic analysis. In one case referred to rule out trisomy 21 in which cystic hygroma was detected on ultrasound exam in a 35 y.o. G2 P1, a FISH interpretation of disomy 21 was based on 18% of cells with 1 signal, 65% with 2, 15% with 3, and 2% with 4; the large percentage of 3 signals was also reported. Cytogenetic analysis was 47,XX,+21 in 63 metaphases. Subsequent FISH analysis of metaphases revealed a large number of chromosomes 21 with only one site of hybridization that might have contributed to the discordant interpretation. Whether this result reflects population polymorphism in hybridization of this cosmid remains to be elucidated. Our findings confirm use of FISH as an invaluable adjunct to conventional cytogenetics; however, results must be interpreted cautiously until larger numbers of cases have been analyzed to detect potentially rare events.

  5. Potential biomarkers for Turner in maternal plasma: possibility for noninvasive prenatal diagnosis.

    Science.gov (United States)

    Kolialexi, Aggeliki; Anagnostopoulos, Athanasios K; Papantoniou, Nikos; Vougas, Konstantinos; Antsaklis, Aris; Fountoulakis, Michael; Mavrou, Ariadni; Tsangaris, George Th

    2010-10-01

    Turner syndrome (TS) is the most common sex chromosome abnormality in females, caused by the complete or partial absence of one X chromosome. To identify biomarkers for TS, we compared the protein composition of maternal plasma samples from pregnant women with normal and TS fetuses, using a proteomic approach consisting of 2D-E separation and MS analysis for the identification of the differentially expressed proteins. Samples were routinely obtained in the second trimester of pregnancy, stored, and used after prenatal determination of the fetal karyotype. Nine proteins (C1S, CO3, CLUS, AFAM, HABP2, IGHA1, HPT, SHBG, and CD5L) were significantly increased in the plasma of women carrying TS fetuses, whereas KNG1, IGJ, and TTHY were decreased. Identified proteins were further evaluated by immunoblot analysis while functional network association was carried out to asses significance. The identification of specific biomarkers may facilitate the development of noninvasive prenatal diagnosis and improve our understanding of the pathology of TS. Nevertheless, testing a larger cohort of pregnant women is necessary to evaluate the relevance of the reported findings.

  6. Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma

    NARCIS (Netherlands)

    Oever, J.M. van den; Bijlsma, E.K.; Feenstra, I.; Muntjewerff, N.; Mathijssen, I.B.; Bakker, E. de; Belzen, M.J. van; Boon, E.M.

    2015-01-01

    OBJECTIVE: With a shift towards noninvasive testing, we have explored and validated the use of noninvasive prenatal diagnosis (NIPD) for Huntington disease (HD). METHODS: Fifteen couples have been included, assessing a total of n = 20 pregnancies. Fetal paternally inherited CAG repeat length was det

  7. Down Syndrome Due to Unbalanced Homologous Acrocentric Rearrangements and its Recurrence in Subsequent Pregnancies: Prenatal Diagnosis by Amniocentesis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2009-12-01

    Conclusion: We found a frequency of 0.019% for rea(21q21q Down syndrome in patients undergoing amniocentesis. Down syndrome caused by the homologous rearrangement rea(21q21q can be associated with recurrence. Prenatal diagnosis of rea(21q21q Down syndrome should include extensive cytogenetic and molecular analyses of the parents and probands.

  8. Prevalence, timing of diagnosis and pregnancy outcome of abdominal wall defects after the introduction of a national prenatal screening program

    NARCIS (Netherlands)

    Fleurke-Rozema, Hanneke; van de Kamp, Karline; Bakker, Marian; Pajkrt, Eva; Bilardo, Caterina; Snijders, Rosalinde

    ObjectiveTo examine prevalence, time of diagnosis and outcome of fetuses with an exomphalos or gastroschisis, diagnosed since the introduction of a national prenatal screening program in 2007. MethodsA prospective cohort study was undertaken in two fetal medicine units in the Netherlands. Cases were

  9. Cell-free fetal DNA in maternal plasma and noninvasive prenatal diagnosis DNA fetal libre en el plasma materno y diagnóstico prenatal no invasivo DNA livre fetal em plasma materno e diagnóstico pré-natal não invasivo

    OpenAIRE

    Ester Silveira Ramos

    2006-01-01

    The noninvasive nature of the detection of fetal DNA in the maternal circulation represents the greatest advantage over the conventional methods of prenatal diagnosis. The applications of this methodology involve the detection of the fetal sex, and diagnosis, intra-uterine treatment, and evaluation of the prognosis of many diseases. Fetal cells detected in the maternal circulation have also been shown to be implicated in autoimmune diseases and to represent a potential source of stem cells. O...

  10. Prenatal diagnosis of Pallister-Killian syndrome associated with pulmonary stenosis and right ventricular dilatation.

    Science.gov (United States)

    Park, In Yang; Shin, Jong Chul; Kwon, Ji Young; Koo, Bo Kyung; Kim, Myungshin; Lim, Jihyang; Kim, Yonggoo; Han, Kyungja

    2009-08-01

    Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic villous sampling, genetic amniocentesis, and cordocentesis, or by chromosomal analysis of skin fibroblasts, but is not usually detected by chromosomal analysis of peripheral blood cells. Herein, we report a case of a gravida at 23 weeks gestation with pulmonary stenosis and right ventricular dilation of the heart which were detected by sonography. Fluorescence in situ hybridization and a multicolor banding technique were performed to verify the diagnosis as 47,XX, +mar.ish i(12)(p10)(TEL++)[16]/46,XX[4], and an autopsy confirmed the cardiac anomalies detected on antenatal sonography.

  11. Carrier detection and prenatal diagnosis of hemophilia B with more advanced techniques.

    Science.gov (United States)

    Caprino, D; Acquila, M; Mori, P G

    1993-12-01

    We used the PCR to amplify three polymorphic regions of Factor IX gene on 35 Italian families: DdeI intron 1, Mn1I exon f, and the polymorphism HhaI located 8 kb at the 3' end of FIX gene. We analyzed the Mn1I and HhaI markers on DGGE and DdeI polymorphism on agarose gel. We reached an informativity of 78% and we found one mutation at codon 145 (exon f) during the screening for Mn1I polymorphism. Furthermore, we performed 16 prenatal diagnoses on chorionic villus samples; five were female and 11 male. Four were uninformative three healthy and one affected male fetus were recognized by PCR techniques, two healthy and one affected fetus by Southern analysis. In three pregnant women examined for the first time during pregnancy, the PCR technique allowed us to perform a rapid diagnosis of noncarrier status, avoiding the fetal sampling procedures.

  12. Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure (ND-PAE): Proposed DSM-5 Diagnosis.

    Science.gov (United States)

    Kable, Julie A; O'Connor, Mary J; Olson, Heather Carmichael; Paley, Blair; Mattson, Sarah N; Anderson, Sally M; Riley, Edward P

    2016-04-01

    Over the past 40 years, a significant body of animal and human research has documented the teratogenic effects of prenatal alcohol exposure (PAE). Neurobehavioral Disorder associated with PAE is proposed as a new clarifying term, intended to encompass the neurodevelopmental and mental health symptoms associated with PAE. Defining this disorder is a necessary step to adequately characterize these symptoms and allow clinical assessment not possible using existing physically-based diagnostic schemes. Without appropriate diagnostic guidelines, affected individuals are frequently misdiagnosed and treated inappropriately (often to their considerable detriment) by mental health, educational, and criminal justice systems. Three core areas of deficits identified from the available research, including neurocognitive, self-regulation, and adaptive functioning impairments, are discussed and information regarding associated features and disorders, prevalence, course, familial patterns, differential diagnosis, and treatment of the proposed disorder are also provided.

  13. [Lowe syndrome revealed by prenatal diagnosis of congenital cataract with brain abnormalities].

    Science.gov (United States)

    Zéphir, P; Decramer, S; Sartor, A; Vayssière, C

    2014-05-01

    Congenital cataract is a rare disease whose incidence is estimated to 0.5% of birth in France. A study of the literature shows that congenital cataract is idiopathic in 50% of cases, hereditary forms representing 25% of cases. Other causes of congenital cataract are represented by viral embryofoetopathies acquired during pregnancy, metabolic disorders and chromosomal aberrations within the scope of malformative syndromes. The authors report the case of a neonatal diagnosis of Lowe syndrome suspected by the discovery of bilateral cataract initially isolated. The morphological exploration was completed by secondary brain abnormalities (periventricular lesions). The etiological prenatal exploration was negative. Lowe syndrome is a rare cause of antenatal cataract, which so far only one case has been reported.

  14. Prenatal diagnosis and abortion for congenital abnormalities: is it ethical to provide one without the other?

    Science.gov (United States)

    Ballantyne, Angela; Newson, Ainsley; Luna, Florencia; Ashcroft, Richard

    2009-08-01

    This target article considers the ethical implications of providing prenatal diagnosis (PND) and antenatal screening services to detect fetal abnormalities in jurisdictions that prohibit abortion for these conditions. This unusual health policy context is common in the Latin American region. Congenital conditions are often untreated or under-treated in developing countries due to limited health resources, leading many women/couples to prefer termination of affected pregnancies. Three potential harms derive from the provision of PND in the absence of legal and safe abortion for these conditions: psychological distress, unjust distribution of burdens between socio-economic classes, and financial burdens for families and society. We present Iran as a comparative case study where recognition of these ethical issues has led to the liberalization of abortion laws for fetuses with thalassemia. We argue that physicians, geneticists and policymakers have an ethical and professional duty of care to advocate for change in order to ameliorate these harms.

  15. Congenital hydrocephalus - prevalence, prenatal diagnosis and outcome of pregnancy in four European regions

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Addor, Marie-Claude

    2009-01-01

    OBJECTIVE: To describe prevalence, prenatal diagnosis and outcome for fetuses and infants with congenital hydrocephalus. METHODS: Data were taken from four European registries of congenital malformations (EUROCAT). The registries included are based on multiple sources of information and include...... information about livebirths, fetal deaths with GA>/=20weeks and terminations of pregnancy for fetal anomaly (TOPFA). All cases from the four registries diagnosed with congenital hydrocephalus and born in the period 1996-2003 were included in the study. Cases with hydrocephalus associated with neural tube...... defects were not included in the study. RESULTS: Eighty-seven cases with congenital hydrocephalus were identified during the study period giving an overall prevalence of 4.65 per 10,000 births. There were 41 livebirths (47%), four fetal deaths (5%) and 42 TOPFA (48%). Nine percent of all cases were from...

  16. Prenatal Diagnosis and Postnatal Findings of Cephalothoracopagus Janiceps Disymmetros: A Case Report

    Directory of Open Access Journals (Sweden)

    Lívia Teresa Moreira Rios

    2012-01-01

    Full Text Available Conjoined twins are rare variants of monozygotic twins, which result from an incomplete division of the embryonic disk. Cephalothoracopagus is a rare twin pregnancy described as imperfect fusion of the head and chest, but separated columns, limbs, and pelvis. They occur with incidence rates that range from 1 per 50,000 to 1 per 100,000 births; however, the incidence of the cephalothoracopagus variety is 1 per 58 conjoined twins. In the case of identical and symmetric faces caused by the orientations of the 2 notochordal axes that are perfectly ventroventral, they are called janiceps disymmetros. We present a prenatal diagnosis of a typical case of cephalothoracopagus janiceps disymmetros and the diagnostic confirmation by image and pathology exams.

  17. Circulating nucleic acids in plasma and serum: applications in diagnostic techniques for noninvasive prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Gahan PB

    2013-04-01

    Full Text Available Peter B Gahan Anatomy and Human Sciences Department, King's College London, London Bridge, London, UK Abstract: The analysis of fetal nucleic acids in maternal blood 13 years ago has led to the initiation of noninvasive methods for the early determination of fetal gender, rhesus D status, and a number of aneuploid disorders and hemoglobinopathies. Subsequently, a comparatively large quantity of fetal DNA and RNA has been demonstrated in amniotic fluid as well as small amounts in premature infant saliva. The DNA and RNA in amniotic fluid has permitted an analysis of core transcriptomes, whilst the DNA and RNA in saliva allows the early detection and treatment monitoring of fetal developmental problems. These aspects are discussed together with the methodology and limits of analysis for noninvasive prenatal diagnosis in predictive, preventive, and personalized medicine. Keywords: fetal circulating DNA/RNA, amniotic fluid, saliva, aneuploidy, thalassemias

  18. Prenatal diagnosis of a giant foetal lymphangioma and haemangiolymphoma in the second trimester using 2D and 3D ultrasound.

    Science.gov (United States)

    Mittermayer, C; Blaicher, W; Deutinger, J; Bernaschek, G; Lee, A

    2003-12-01

    Lymphangiomas are benign tumours of the lymphatic system. Early prenatal diagnosis is important to permit a planned delivery and provide adequate postnatal care. It thereby improves prognosis and allows the option of terminating the pregnancy if poor outcome is predicted. We report two cases, a giant haemangiolymphoma and a lymphangioma. 2D and 3D US findings are presented and differential diagnosis, therapeutic options and prognosis are discussed.

  19. The prognostic factors in the prenatal diagnosis of the echogenic fetal lung.

    Science.gov (United States)

    Barret, J; Chitayat, D; Sermer, M; Amankwah, K; Morrow, R; Toi, A; Ryan, G

    1995-09-01

    The prenatal diagnosis of an echogenic fetal lung (EFL) is now often made in the early second trimester using high-resolution ultrasound. This ultrasound appearance is usually caused by a congenital cystic adenomatoid lung malformation (CCAM), an intrapulmonary lung sequestration or obstruction of a major airway. In order to provide prognostic guidelines to parents who may be considering termination of a fetus with these findings, we have analysed a series of 11 cases diagnosed in our centre over the past 2 years in conjunction with 60 cases from major published series. The data suggest that in the absence of non-immune hydrops fetalis (NIHF) or other anomalies, the outcome for the fetuses is excellent, with over 90 per cent survival. Neither early diagnosis (24 weeks) nor the presence of mediastinal shift is a poor prognostic indicator. In addition, it appears that if NIHF is absent at diagnosis, the chance that it will develop as the pregnancy continues is small (6 per cent). Furthermore, there is a significant (up to 30 per cent) chance that this ultrasound finding will resolve in utero. The development of in utero fetal surgical techniques may be the only hope for those hydropic fetuses who appear to have a dismal prognosis.

  20. Rapid genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography

    Institute of Scientific and Technical Information of China (English)

    ZHU Hai-yan; WU Ling-qian; PAN Qian; TANG Bei-sha; LIANG De-sheng; LONG Zhi-gao; DAI He-ping; XIA Kun; XIA Jia-hui

    2006-01-01

    @@ Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder1 (1in 6000 to 10 000 births) caused by mutations in the SMN1 gene at 5q13. More than 90%-98% of SMA patients show homozygous deletion of SMN1,2which has proved to be useful in the diagnosis of SMA. But it is hampered because of the existence of a highly homologous gene, SMN2.3 Based on nucleotide mismatches between SMN1 and SMN2,the following two DNA tests are usually performed:single-strand conformational polymorphism (SSCP)3and polymerase chain reaction (PCR) followed by a restriction enzyme digestion.4,5 In this study we developed a new method for rapid genetic diagnosis of SMA by denaturing high-performance liquid chromatography (DHPLC), which is based on different retention of homoduplexes and heteroduplexes in detecting the homozygous deletion of SMN1. Both genetic and prenatal diagnoses were performed successfully for a SMA family by DHPLC, which was confirmed as a rapid and effective technique for detecting the deletion of SMN1.

  1. Prenatal diagnosis of ectopia cordis at 10 weeks of gestation using two-dimensional and three-dimensional ultrasonography.

    Science.gov (United States)

    Liang, R I; Huang, S E; Chang, F M

    1997-08-01

    We report here the earliest prenatal diagnosis to date of a case of ectopia cordis using both two-dimensional and three-dimensional ultrasound at 10 weeks of gestation. Both two-dimensional and three-dimensional ultrasound clearly revealed a thoracoabdominal ectopia cordis and an omphalocele. Histopathological examination confirmed the prenatal ultrasonic findings. In addition to an ectopia cordis, a supraumbilical hepato-omphalocele, absence of a pericardium and an anterior diaphragmatic defect were seen, although there was a normal sternum. These pathological findings, suggested that our case was a variant of pentalogy of Cantrell.

  2. Prenatal diagnosis of Down syndrome using cell-free fetal DNA in amniotic fluid by quantitative fluorescent polymersase chain reaction

    Institute of Scientific and Technical Information of China (English)

    Wu Dan; Chi Hongbin; Shao Minjie; Wu Yao; Jin Hongyan; Wu Baiyan; Qiao Jie

    2014-01-01

    Backgroud Amniotic fluid (AF) supernatant contains cell-free fetal DNA (cffDNA) fragments.This study attempted to take advantage of cffDNA as a new material for prenatal diagnosis,which could be combined with simple quantitative fluorescent polymerase chain reaction (QF-PCR) to provide an ancillary method for the prenatal diagnosis of trisomy 21 syndrome.Methods AF supernatant samples were obtained from 27 women carrying euploid fetuses and 28 women carrying aneuploid fetuses with known cytogenetic karyotypes.Peripheral blood samples of the parents were collected at the same time.Short tandem repeat (STR) fragments on chromosome 21 were amplified by QF-PCR.Fetal condition and the parental source of the extra chromosome could be determined by the STR peaks.Results The sensitivity of the assay for the aneuploid was 93% (26/28; confidence interval,CI:77%-98%) and the specificity was 100% (26/26; CI:88%-100%).The determination rate of the origin of the extra chromosome was 69%.The sensitivity and the specificity of the assay in the euploid were 100% (27/27).Conclusions Trisomy 21 can be prenatally diagnosed by the QF-PCR method in AF supernatant.This karyotype analysis method greatly reduces the requirement for the specimen size.It will be a benefit for early amniocentesis and could avoid pregnancy complications.The method may become an ancillary method for prenatal diagnosis of trisomy 21.

  3. Application of trans-abdominal chorionic villus sampling in prenatal diagnosis of chromosomal diseases in first trimester of gestation

    Institute of Scientific and Technical Information of China (English)

    Qi Qing-wei; Xiang Yang; Hao Na; Zhou Jing; Lu Ke; Tan Li; Sun Nian-hu

    2008-01-01

    Objective:To evaluate the feasibility and safety of prenatal diagnosis by traneabdominal chorionic villus sam-pling(TA-CVS)via the guidance of B-mode ultrasound in the first trimester of gestation.To explore the technique of long time culture and chromosome preparation of villi in early pregnancy.To evaluate the feasibility of the above techniques in the application of the prenatal cytogenetic diagnosis.Methods:One hundred and thirty-five singleton pregnancies at risk were referred from January 2001 to Decem-ber 2007.Results:The average maternal age was 35.2 years.TA-CVS was performed in the 10~13th weeks of gestation and the average gestational age was 10.89 weeks.All attempts at sampling were successful.The rate of operation-associated fetal loss was 0.74%.The failure rate of prenatal diagnosis because of inadequate amount of specimen was 0.The average culture time was 5-7 days.The success rate of the cell culture was 98.5%.No maternal con-temination and bacterial contamination happened.Fifteen cases of abnormal karyotype and one case of confined pla-cantel mosaiciem were diagnosed.Conclusion:TA-CVS appears to be safe and feasible and might to be offered in the prenatal diagnosis in the first trimester of gestation.The technique of long time culture and chromosome preparation of villi is stable and reliable.It is feasible to apply these techniques in the clinical practice of prenatal cytogenetic diagnose in the early pregnancy.

  4. Research and analysis of Foshan prenatal screening and prenatal diagnosis%佛山地区产前筛查与产前诊断分析研究

    Institute of Scientific and Technical Information of China (English)

    邓璐莎; 郭晓玲; 钟进; 陈志华; 邓秀珍

    2012-01-01

    Objective: Research and analysis of Foshan prenatal screening and prenatal diagnosis. Methods; Since Jun. 2006 -Dec. 2008 to our hospital for prenatal care of pregnant women a total of 41 656 cases, of which 29, 101 cases of voluntary line sero-logical screening, gestational age 15 -25 weeks, age 21 -42 Years, mean age was 25. 73 years. Routine ultrasound screening has 41 333,gestational age 11 -36 weeks. Down's screening and B - ultrasound screening results for the high - risk pregnant women for genetic counseling, prenatal diagnosis confirmed the recommendations. Method of prenatal diagnosis by amniocentesis or transabdomi-nal amniotic fluid cells cultured umbilical vein cord blood cell culture, chromosome with G band staining. Results: The screening of 29 101 cases in the serum of pregnant women in high - risk screening 3227 cases, the positive rate was 11. 1%. High risk of trisomy 21 in which 1287 cases, accounting for 4.4% ; high risk of trisomy 18 423 cases, accounting for 1.45%. Serum screening in the 3227 cases of high - risk pregnant women receive prenatal diagnosis were 1065 cases, accounting for 33% (1065/3227). Abnormal karyotypes of 100 patients, accounting for 12.49% , accounting for 4.12% of high - risk pregnant women (100/3227 ). There are 19 cases of trisomy 21, 2 cases of trisomy 18 detection rate was 1.97% (21/1065) , a total of 21 cases of chromosome abnormalities 21% (21/100). With 41 333 routine ultrasound screening, ultrasound screening for high risk of 851 cases, the positive rate was 2.06%. 206 cases of prenatal diagnosis, chromosomal abnormalities in 45 cases, accounting for 21. 84% (45/206), Check out of 5 cases of trisomy 21, trisomy 18 in 8 cases, 1 case of trisomy 13, accounting for 31.11% of chromosomal abnormalities (14/45). Conclusion: The maternal age, serology testing and prenatal ultrasound screening for Down syndrome screening methods significantly improve the positive rate of screening, through prenatal screening, the screening

  5. Expression signature as a biomarker for prenatal diagnosis of trisomy 21.

    Directory of Open Access Journals (Sweden)

    Marija Volk

    Full Text Available A universal biomarker panel with the potential to predict high-risk pregnancies or adverse pregnancy outcome does not exist. Transcriptome analysis is a powerful tool to capture differentially expressed genes (DEG, which can be used as biomarker-diagnostic-predictive tool for various conditions in prenatal setting. In search of biomarker set for predicting high-risk pregnancies, we performed global expression profiling to find DEG in Ts21. Subsequently, we performed targeted validation and diagnostic performance evaluation on a larger group of case and control samples. Initially, transcriptomic profiles of 10 cultivated amniocyte samples with Ts21 and 9 with normal euploid constitution were determined using expression microarrays. Datasets from Ts21 transcriptomic studies from GEO repository were incorporated. DEG were discovered using linear regression modelling and validated using RT-PCR quantification on an independent sample of 16 cases with Ts21 and 32 controls. The classification performance of Ts21 status based on expression profiling was performed using supervised machine learning algorithm and evaluated using a leave-one-out cross validation approach. Global gene expression profiling has revealed significant expression changes between normal and Ts21 samples, which in combination with data from previously performed Ts21 transcriptomic studies, were used to generate a multi-gene biomarker for Ts21, comprising of 9 gene expression profiles. In addition to biomarker's high performance in discriminating samples from global expression profiling, we were also able to show its discriminatory performance on a larger sample set 2, validated using RT-PCR experiment (AUC=0.97, while its performance on data from previously published studies reached discriminatory AUC values of 1.00. Our results show that transcriptomic changes might potentially be used to discriminate trisomy of chromosome 21 in the prenatal setting. As expressional alterations

  6. β-Thalassemia mutations in Western India: outcome of prenatal diagnosis in a hemoglobinopathies project.

    Science.gov (United States)

    Patel, Ashwin P; Patel, Rupesh B; Patel, Saumyaa A; Vaniawala, Salil N; Patel, Dipika S; Shrivastava, Naina S; Sharma, Narmadeshwar P; Zala, Jayendrasinh V; Parmar, Prakash H; Naik, Madhuben R

    2014-01-01

    Prenatal diagnosis (PND) is one of the most cost effective preventive methods, but it is available only in the large cities of India. Therefore, we initiated a program that offers PND and allows us to determine the prevalence of various mutations. Pregnant females (n = 111,426) were screened for hemoglobinopathies using complete blood count (CBC) and high performance liquid chromatography (HPLC). If the female had a hemoglobinopathy, her husband was then tested. If hemoglobinopathies were seen in both partners, a genetic mutation study was performed on the couple. Fetal samples were obtained by either chorionic villus sampling (CVS) in 70.6% or amniocentesis in 29.4%. The study included 282 couples. IVS-I-5 (G > C) was the most common mutation in all castes except in the Sindhis and Lohanas, where the 619 bp deletion was the most common. Prenatal testing was informative in 97.9% of the couples. A significant number of couples (41.0%) underwent PND during their first pregnancy. Seven patients with β-thalassemia (β-thal) trait had normal Hb A2 levels. The Hb A2 and Hb F values varied significantly (p  T or G > A), were present in 81.0% of the couples tested. β-Thalassemia mutation frequency varied among the different castes, underlining the need for evolving a testing strategy that considers the caste system. Targeting antenatal clinics could also prove to be a most cost effective way of preventing hemoglobinopathies.

  7. Social impacts of technological diffusion: prenatal diagnosis and induced abortion in Brazil.

    Science.gov (United States)

    Novaes, H M

    2000-01-01

    Scientific and technological development plays an essential part in shaping contemporary societies, and medicine and health care are considered to be particularly receptive to the incorporation of new concepts, techniques and products, producing impacts not only on the health problems for which they were originally intended, but also varied 'side-effects', less frequently recognised and studied. In this study the point of departure was the hypothesis that the intensive diffusion in Brazil of prenatal ultrasound would create new problems for individuals (pregnant women, their families and health professionals) and society in coping with foetal malformations, due to the existence of a very restrictive induced abortion legislation. The objective of the research was to study the social visibility of these problems, in the written mass media. The period under analysis went from 1991 to 1996. The four most important daily newspapers and two medical council journals were studied, with a criteria oriented selection of articles, and their macrotextual thematic analysis. The results indicate that the basic elements in the relationships between medical technology, prenatal diagnosis, foetal malformations and induced abortions stayed the same along the period - a restrictive Penal Code, the public recognition of the disseminated and usually tolerated practice of induced abortion, done in risky conditions for the majority of women, with very evident consequences on maternal health, a divided Congress, a divided 'public opinion', religious opposition and new scientific and technological practices in health care. Nevertheless, tension between these 'contradictory' factors increases, so much so, that new elements are introduced which make an accommodation possible, without implying in major changes of position. This is achieved through the development of new alliances between Science, the judiciary and obstetrical leaders, which benefit individual initiatives, instead of leading

  8. [Prenatal diagnosis of Meckel-Gruber syndrome. Case report and literature review].

    Science.gov (United States)

    Audifred-Salomón, J; Barrita-Domínguez I J; Ortiz, de Zárate-Alarcón; Sánchez-Hernández, H; Camacho-Cervantes, A

    2016-02-01

    Meckel-Gruber syndrome is a ciliopathy, a lethal autosomal recessive disorder that occurs in all races and ethnicities; it is characterized by central nervous system abnormalities, resulting in mental retardation, bilateral renal cystic dysplasia and malformations of hands and feet. To date there have been only about 200 cases reported worldwide. It is a disease with a recurrence rate of 25% whose most reliable method for diagnosis is prenatal ultrasound. The mortality rate is 100% and in view of the high index of recurrence, subsequent pregnancies should be investigated appropriately with genetic counseling. We present the case of a 15 years-old mother with 30.2 weeks pregnancy resulting from rape by consanguinity (grandfather), without prenatal care. On admission HD ultrasound study is performed finding fetus fetometria average 26.2 weeks (for discordant fetometria head circumference 187.5 mm to 21.0 weeks gestation -3DE-) lost in the skull shape of the shell line is observed winding mean; not cut down, cavum septum pellucidum or herniated sac cerebellum and occipital level (encephalocele) are evident. It starts cervical ripening with prostaglandins for 24 hours to conduct further labor with oxytocic and delivery care where a fetus death, female, 1516 g is obtained. Fetal autopsy family is authorized; however, it not has done because it is legal and only medical geneticist obtains medical case assessment. The Meckel-Gruber syndrome is a very rare condition that occurs in cases of consanguinity occasions. Mortality occurs in 100% of cases, so you should talk to parents and explain the best maternal prognosis, with abortion in the early stages and subsequent genetic counseling.

  9. Counseling parents before prenatal diagnosis: do we need to say more about the sex chromosome aneuploidies?

    Science.gov (United States)

    Lalatta, Faustina; Tint, G Stephen

    2013-11-01

    Sex chromosome trisomies (SCT), an extra X chromosome in females (triple X, XXX), males with an extra X chromosome (Klinefelter syndrome, XXY) or an extra Y chromosome (XYY) occur because of errors during meiosis and are relatively frequent in humans. Their identification has never been the goal of prenatal diagnosis (PD) but they almost never escape detection by any of the methods commonly in use. Despite recommendations and guide-lines which emphasize the importance of structured counseling before and after PD, most women remain unaware that testing for serious genetic abnormalities is more likely to uncover these trisomies. With the increasing use of PD more and more prospective parents receive a diagnosis of sex chromosome trisomies and are faced with the dilemma of whether to terminate the pregnancy or to carry it to term. Despite the dramatic and emotionally devastating consequences of having to make such a decision, they have little opportunity to consider in advance the possible outcomes of such a pregnancy and, rather than relying on their own feelings and judgements, are forced to depend on the advice of counseling professionals who may or may not themselves be fully aware of what having an extra sex chromosome can mean to the development of a child. We address here the principles of reproductive autonomy together with an analysis of the major issues that ought to be discussed with the parents before a PD is carried out in order to minimize detrimental effects caused by this unexpected finding.

  10. Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome.

    Science.gov (United States)

    Turchetti, Daniela; Razzaboni, Elisabetta; Zomer, Hila; Rossi, Cesare; Ferrari, Simona; Greco, Donatella; Graziano, Claudio; Romeo, Giovanni; Seri, Marco

    2006-12-01

    Angelman Syndrome (AS), characterized by mental retardation, absence of speech, seizures and motor dysfunction, is caused by genetic defects leading to loss of expression of the maternal copy of the chromosome 15q11-13 imprinted region. Most cases are sporadic, being caused by de novo deletion of maternal chromosome 15q11-13 (75%) or by paternal uniparental disomy (3-4%). Familial cases can occur, due to mutations in the UBE3A gene or in the imprinting center. We describe the case of a pregnant woman having two nephews with AS caused by a UBE3A mutation; lack of communication within the family led the woman to be completely unaware of the risk of disease recurrence until 15 weeks of gestation. UBE3A genetic testing revealed she carried the familial mutation 892-893delCT. Prenatal diagnosis was performed on amniotic fluid and demonstrated that the fetus had inherited the mutation. The unexpected diagnosis and the subsequent termination of the pregnancy caused the woman to undergo acute psychological distress showing relevant psychopathological symptoms. Nevertheless, at 2-year follow-up, adverse consequences were minimized, and the couple was planning a new pregnancy. Factors affecting the psychological outcome of abortion and the role of psychological support in reducing the risk of long-term unfavorable consequences are discussed.

  11. Three-dimensional sonography in prenatal diagnosis: a luxury or a necessity?

    Science.gov (United States)

    Kurjak, A; Hafner, T; Kos, M; Kupesic, S; Stanojevic, M

    2000-01-01

    Three-dimensional sonography revolutionized ultrasound imaging with its capacity to depict an unlimited number of planes in which the object of interest can be displayed. The addition of numerous modalities of image rendering promotes three-dimensional sonography to the top of the spectrum of diagnostic imaging in obstetrics and gynecology. The aim of this article is to present our experience in 3-D sonography during the second and third trimester of pregnancy and to give a comparative review of literature. 247 patients in gestational age ranging from 12 to 40 weeks of gestation were examined over a three year period. The majority of patients entered the study because fetal anomaly was suspected at two-dimensional sonography. Some patients were sent on to three-dimensional sonography because it was not possible to depict clearly normal fetal anatomy by two dimensional sonography. Out of 170 fetal anomalies three-dimensional sonographic analysis failed in only three cases. In all three anomaly was accompanied with severe oligohydramnios. Main advantages of three-dimensional ultrasound in perinatal medicine and antenatal diagnosis include scanning in the coronal plane, improved assessment of complex anatomic structures, surface analysis of minor defects, volumetric measuring of organs, "plastic" transparent imaging of fetal skeleton, spatial presentation of blood flow arborization and, finally, storage of scanned volumes and images. It is our decided opinion that three-dimensional sonography has gained a valuable place in prenatal diagnosis, becoming a necessity for every modern perinatal unit.

  12. Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands.

    Science.gov (United States)

    van Rij, M C; de Die-Smulders, C E M; Bijlsma, E K; de Wert, G M W R; Geraedts, J P; Roos, R A C; Tibben, A

    2013-02-01

    Individuals at 50% risk of Huntington's disease (HD) who prefer not to know their carrier status, might opt for exclusion prenatal diagnosis (ePND) or exclusion preimplantation genetic diagnosis (ePGD). This study aims to provide a better understanding of couples' motives for choosing ePND or ePND, and surveys couples' experiences in order to make recommendations for the improvement of counselling for exclusion testing. This qualitative retrospective interview study focussed on couples who underwent ePND or ePGD for HD in the period 1996-2010. Seventeen couples were included of which 13 had experienced ePND and 6 ePGD. Mean time-interval since exclusion-testing was 3.9 years. Couples' moral reservations regarding termination of pregnancy (TOP) or discarding healthy embryos were counterbalanced by the wish to protect their future child against HD. Seven couples had terminated a total of 11 pregnancies with a 50% HD risk, none showed regret. ePGD was used by couples who wanted to avoid (another) TOP. ePND and ePGD are acceptable reproductive options for a specific group of counsellees. To guarantee sound standards of care, it is imperative that candidate couples be given in-depth non-directive counselling about all possible scenarios, and adequate professional and psychological support prior to, during and after ePND/ePGD.

  13. Diagnosis and management of congenital adrenal hyperplasia: clinical, molecular and prenatal aspects.

    Science.gov (United States)

    Mathur, R; Kabra, M; Menon, P S

    2001-01-01

    Congenital adrenal hyperplasia (CAH) is the most common cause of female pseudohermaphroditism in Indian children. It is caused by enzymatic defects in the steroidogenic pathway of the adrenal glands and is characterized by impaired cortisol and aldosterone synthesis and overproduction of androgens. The disease usually presents with life-threatening problems and virilization, with long term physical and psychological effects. The clinical and laboratory diagnoses play an important role in deciding the course of treatment, which continues lifelong. To ensure proper growth and development of the patient, optimized disease management and treatment with steroids is required. Often the patient also requires surgical correction. Recent developments in molecular genetics have greatly helped in understanding the pathogenesis of the disease. The gene encoding for steroid 21-hydroxylase, CYP21, is located on the short arm of chromosome 6 in the HLA region and is amplified for genetic diagnosis. Rapid characterization of point mutations is possible using the allele-specific polymerase chain reaction technique in affected children. Counselling, prenatal diagnosis and treatment are recommended in all pregnant women with a positive family history to reduce or eliminate the effects in affected foetuses. This spares the female newborn the consequences of genital ambiguity and problems of gender identity.

  14. BACs-on-beads: a new robust and rapid detection method for prenatal diagnosis.

    Science.gov (United States)

    Choy, Richard Kwong Wai; Chen, Ying; Sun, Xiao-Fang; Kwok, Yvonne Ka Yin; Leung, Tak Yeung

    2014-04-01

    Karyotyping, the gold standard used for diagnosis of chromosomal abnormalities, is being progressively replaced by rapid aneuploidy testing (RAT) techniques such as quantitative fluorescence-PCR, FISH and multiplex ligation-dependent probe amplification for diagnosing the common aneuploidies or chromosomal microarray analysis for comprehensive genome-wide testing. However, due to technical limitations, current RATs are confined to the detection of common aneuploidies 13, 18, 21 and sex chromosomes. To overcome the limitations of RATs, a bacterial artificial chromosomes-on-beads (BoBs™) assay technology has been introduced for the detection of the common aneuploidies as well as specific microdeletion syndromes. The BoBs assay is a bead-based multiplex assay using polystyrene beads impregnated with two spectrally distinct infrared fluorochromes to create a liquid array of up to 100 unique spectral signatures that supports the analysis of that scale of simultaneous hybridization assays on a minute DNA sample. This review gives an overview on the collective experiences of BoBs applications in prenatal diagnosis.

  15. Pregnancy outcome after genetic counselling for prenatal diagnosis of unexpected chromosomal anomaly.

    Science.gov (United States)

    Clementi, Maurizio; Di Gianantonio, Elena; Ponchia, Rossella; Petrella, Marilena; Andrisani, Alessandra; Tenconi, Romano

    2006-01-01

    Couples undergoing invasive prenatal diagnosis (PD) are informed and concerned mainly about autosomal trisomies. However, unexpected chromosomal abnormalities (UCA) are a frequent finding at PD. We have analysed the psychological and practical consequences in the couples counselled in our centre because of the identification of foetal UCA at PD. The study was carried out on a sample of 52 couples referred for genetic counselling in the period 1997-2000. The couples underwent a structured interview and two self-report instruments to measure anxiety and psychological characteristics. The couples have been divided into three groups: (1) low risk - without or with negligible risk, (2) mild risk - with mild risk or mild clinical phenotype and (3) sex chromosome anomaly. All couples received the diagnosis of chromosomal anomaly from the obstetrician without any other comments and were referred to our service for genetic counselling. Most couples felt fear (11/17 in the LR group, 5/7 in the MR group and 12/21 in the SCA group), while sadness was lower frequently felt by those parents-to-be in the LR group. Our study suggests that a specific counselling that mentions the possibility of UCA is mandatory before PD, and the cost-benefit estimate of PD should take into account the psychological implications of UCA detection.

  16. Diagnóstico prenatal de artrogriposis múltiple congénita Prenatal diagnosis of arthrogryposis multiplex congenita

    Directory of Open Access Journals (Sweden)

    Ivonne Martínez Vidal

    2013-03-01

    Full Text Available La artrogriposis múltiple congénita puede definirse como una displasia articular sistémica, caracterizada por rigidez articular en múltiples localizaciones de forma congénita. Se presenta un caso en el que se diagnosticó prenatalmente este signo clínico, que puede tener múltiples causas subyacentes.Arthrogryposis multiplex congenita may be defined as a systemic articular dysplasia characterized by articular rigidity in a many locations of congenital origin. A case was presented in which this clinical sign was diagnosed at prenatal phase and it may have many underlying causes.

  17. Public Relations Manager Involvement in Strategic Issue Diagnosis.

    Science.gov (United States)

    Lauzen, Martha M.

    1995-01-01

    Reports on an exploratory study that seeks to build theoretical understanding of how public relations practitioner involvement in one type of strategic organizational decision making--strategic issue diagnosis--is related to shared values with top management, diagnosis accuracy, strategy pursued, and the power of the public relations function. (TB)

  18. Termination of pregnancy after prenatal diagnosis of spina bifida: a German perspective.

    Science.gov (United States)

    Domröse, Christian M; Bremer, Sandra; Buczek, Caroline; Geipel, Annegret; Berg, Christoph; Gembruch, Ulrich; Willruth, Arne

    2016-10-01

    To analyze fetal cases with spina bifida undergoing termination of pregnancy according to chromosomal analysis and further diagnosed sonographic findings. Retrospective analysis of cases with spina bifida leading to termination of pregnancy in a tertiary referral center from 2002 to 2011. In the study period, 246 cases of spina bifida were diagnosed in our center and 157 parents chose termination of pregnancy. The time of diagnosis was on average 2 days before the first presentation at our department (22 + 3, range: 12 + 3 - 33 + 3 weeks of gestation). Among 157 pregnancies with spina bifida and termination of pregnancy, further malformations could be detected in 46 (29.3 %) cases. An abnormal karyotype could be found in 13 (18.1 %). Severe ventriculomegaly or mild/moderate ventriculomegaly was present in 109 (69.4 %) and 29 (18.5 %) of the cases, respectively, while banana sign was detectable in 153 cases (97.5 %). In the majority, the upper lesion level was lumbar (71.3 %). In 67 cases (42.7 %), termination of pregnancy took place in or after the 24th week of gestation. Direct and indirect signs of spina bifida were detectable in nearly all cases independent of the gestational age. Therefore, the diagnosis could have been made in all cases with late termination. Implementation of a uniform prenatal care including first-trimester scan with potential signs for open spina bifida and second-trimester anomaly scan with indirect intracranial findings and direct detection of spinal lesion could lead to an earlier diagnosis and help to reduce late termination of pregnancy in neural tube defects.

  19. Frecuencia de los defectos del tubo neural en Asturias: impacto del diagnóstico prenatal Prevalence of neural tube defects in Asturias (Spain: impact of prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Enrique García López

    2009-12-01

    Full Text Available Objetivo Describir la frecuencia de defectos del tubo neural (DTN -anencefalia, espina bífida y encefalocele-en Asturias, su evolución temporal y el impacto del diagnóstico prenatal. Métodos: Se estudiaron los casos de DTN en nacidos y abortos inducidos durante el período 1990-2004, utilizando la base de datos del Registro de Defectos Congénitos de Asturias, de base poblacional. Se calcularon las tasas de prevalencia total y al nacimiento. Resultados: La prevalencia total de DTN fue de 12,2 casos por 10.000 nacidos (5,9 anencefalias, 5,0 espinas bífidas y 1,3 encefaloceles y mostró una tendencia ligeramente descendente, con un descenso significativo de la espina bífida, mientras que las cifras de anencefalia y encefalocele se mantuvieron estables. Finalizaron en aborto inducido tras el diagnóstico prenatal el 88% de los casos (anencefalia 96,7%; espina bífida 80%; encefalocele 84,6%, lo que determinó una prevalencia al nacimiento muy baja (1,4 DTN por 10.000 nacidos. Conclusiones: En Asturias, en los últimos 15 años se ha producido un descenso selectivo en la prevalencia total de espina bífida de causa no aclarada. La prevención secundaria, mediante los programas de diagnóstico prenatal y la consiguiente interrupción del embarazo, fue el motivo del marcado descenso de la frecuencia en los nacidos; la simple recomendación de suplementación periconcepcional con ácido fólico no parece haber logrado el efecto buscado.Objective: To describe the frequency and prevalence trend for neural tube defects (NTD (anencephaly, spina bifida and encephalocele in Asturias (Spain, as well as the impact of prenatal diagnosis programs. Methods: All cases of NTD in births and induced abortions were studied, using data from the Registry of Congenital Defects of Asturias for 1990-2004. Total and birth prevalence rates were calculated. Results: The prevalence of NTD for 1990-2004 was 12.2 per 10,000 births (5.9 anencephaly, 5.0 spina bifida and 1

  20. Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18

    Directory of Open Access Journals (Sweden)

    R. Hochstenbach

    2015-01-01

    Full Text Available Noninvasive prenatal testing (NIPT validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. False negative cases have rarely been reported. We describe a false negative case of trisomy 13 and another of trisomy 18 in which NIPT was commercially marketed directly to the clinician. Both cases came to our attention because a fetal anatomy scan at 20 weeks of gestation revealed multiple anomalies. Karyotyping of cultured amniocytes showed nonmosaic trisomies 13 and 18, respectively. Cytogenetic investigation of cytotrophoblast cells from multiple placental biopsies showed a low proportion of nontrisomic cells in each case, but this was considered too small for explaining the false negative NIPT result. The discordant results also could not be explained by early gestational age, elevated maternal weight, a vanishing twin, or suboptimal storage or transport of samples. The root cause of the discrepancies could, therefore, not be identified. The couples involved experienced difficulties in accepting the unexpected and late-adverse outcome of their pregnancy. We recommend that all parties involved in caring for couples who choose NIPT should collaborate to clarify false negative results in order to unravel possible biological causes and to improve the process of patient care from initial counseling to communication of the result.

  1. Molecular Basis and prenatal diagnosis of B- Thalassemia in Southeast if Iran

    Directory of Open Access Journals (Sweden)

    E. Miri Moghadam

    2005-01-01

    Full Text Available Background and purpose : bata thlassemia is the most common monogenic disorders in Iran. The gene frequency varies the country. Sistan and Baluchistan province, located in the southeast of iran with more than 1200 affected individuals, represents one of the regions where thalassemia id not only an important public health problem but also a socioeconomic problem. As a matter of fact high frequency of ß- thalassemia gene inter- family marriages, evasion of couples to carry out pre- marriage blood test, avoidance of counseling before wedding and eagerness for more children in spite of having ß - thalassemia kids collectively prompted us to eatablish prenatal diagnostic center in khordad 1381(May 2002 in this province.Materials and methods : 140 minor thalassemia couples were referred to our center from May 2002 to Feb. 2004. After admission of the couples to the center their demographic data were collected. 10 ml of blood sample was then collected from couples added with anti- coaqulant(0.5 M EDTA. DNA was subsequently extracted before being amplified by Refractory Mutation System(ARMS techniques vs the common primers of B- gene mutations in Iran. Within the 10 to 12th weeks of pregnancy, chorionic villi samples were taken and subjected onto two techniques namely direct and indirect. We afterwards evaluated the inheritance of mutation in the fetus from any of his/ her parents.Results : We carried out preliminary diagnosis for 56 couples, as well as first round and further step of prenatal diagnostic procedures for another 84 couples(n= 140. 79. 3% of the total number resided in cities, whereas 87.9% were born in Sistan and Baluchistan province. Out of which 30% and 70% had sistany and Baluchi ethnicity respectively. Furthermore, 60.7% had at least one affected child, while 85.7% had consanguineous marriages. Out of the totalnumber, 57.9% were from Sunni minority. 88.05% of the couples demonstrated one of the common mutations identified in Iran

  2. Assessing Health-Related Quality-of-Life in Prenatal Diagnosis Comparing Chorionic Villi Sampling and Amniocentesis: A Technical Report

    OpenAIRE

    David Feeny; Marie Townsend; William Furlong; Darrell Tomkins; Gail Robinson; George Torrance; Patrick Mohide; Qinan Wang

    2000-01-01

    Objectives. To assess the health-related quality-of-life (HRQL) effects of chorionic villi sampling (CVS) and genetic amniocentesis (GA) prenatal diagnosis, including factors related to both the processes and the outcomes. Study Design. The HRQL of one hundred twenty six women participating in a randomized controlled clinical trial of CVS versus GA in Toronto and Hamilton, Ontario was assessed in four interviews at weeks 8, 13, 18, and 22 of pregnancy. Statistical analyses included analysis o...

  3. Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia.

    OpenAIRE

    Camaschella, C.; Serra, A.; Saglio, G; Bertero, M T; Mazza, U; Terzoli, S; Brambati, B; Cremonesi, L.; Travi, M; Ferrari, M

    1988-01-01

    In the course of a prenatal diagnosis for beta thalassaemia by linkage analysis of restriction fragment length polymorphisms, a homozygous beta thalassaemia fetus was misdiagnosed as beta thalassaemia trait. Extensive studies of the polymorphic sites within the beta globin gene cluster in all the members of the family resulted in the conclusion that the paternal chromosome 11 of the newborn was different from that expected. Paternity was confirmed by HLA typing and blood group studies. The an...

  4. Periodic health examination, 1996 update: 1. Prenatal screening for and diagnosis of Down syndrome. Canadian Task Force on the Periodic Health Examination.

    OpenAIRE

    Dick, P. T.

    1996-01-01

    OBJECTIVE: To make recommendations to physicians providing prenatal care on (1) whether prenatal screening for and diagnosis of Down syndrome (DS) is advisable and (2) alternative screening and diagnosis manoeuvres. OPTIONS: "Triple-marker" screening of maternal serum levels of alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol; fetal ultrasonographic examination; amniocentesis; and chorionic villus sampling (CVS). OUTCOMES: Accuracy of detection of DS in fetuses, and ri...

  5. Chromosomal microarray analysis in prenatal diagnosis%基于染色体芯片分析的产前诊断

    Institute of Scientific and Technical Information of China (English)

    傅启华; 郑昭璟

    2013-01-01

    Prenatal diagnosis is an effective approach for preventing birth defects and improving population health.Chromosomal karyotyping,sonography,serum screening,fluorescence in situ hybridization,and PCR-based techniques are examples of current prenatal diagnostic technologies.In recent years,the clinical utility of chromosomal microarray analysis (CMA) have been well demonstrated in postnatal genetic diagnosis and it has been recommended as the first tier test for global developmental delay,mental retardation,congenital multiple anomaly,and autism spectrum disorders.CMA is now also being applied to prenatal testing.However,there are still many unresolved issues regarding the proper use of CMA in prenatal testing.The issues include but not limit to the clinical indications for prenatal CMA,interpretation for copy number variations of unknown significance,selection of array platforms,and genetic counseling.These issues should be addressed in order to properly use CMA in prenatal diagnosis.We believe close collaboration from professionals of different disciplines involved in patient care is necessary to help establish the clinical guideline and best practice recommendation for application of CMA in prenatal diagnosis.%产前诊断是预防出生缺陷、提高人口素质的重要举措.目前染色体核型分析、超声检查、血清学筛查、荧光原位杂交及PCR技术等已广泛用于临床产前诊断.近几年来,随着高通量芯片技术在产后诊断中的临床有效性得到广泛证实,染色体芯片分析技术在产前诊断中的应用也得到了普遍关注并已取得良好的效果.但是,染色体芯片分析在产前诊断中的应用还存在许多没有解决的问题,如临床意义未明的拷贝数变异的解释和报告、基因芯片平台的选择、产前诊断遗传咨询等.这些问题的解决需要临床医生、实验室专家以及遗传咨询专家等的共同努力,达成共识并建立具有中国特色的应用指南

  6. [Large-scale population-based genetic screening and prenatal diagnosis for thalassemias in Zhuhai City of Guangdong Province].

    Science.gov (United States)

    Zhou, Yu-qiu; Shang, Xuan; Yin, Bao-min; Xiong, Fu; Xiao, Qi-zhi; Zhou, Wan-jun; Zhang, Yong-liang; Xu, Xiang-min

    2012-02-01

    To report the results of preventive control program of severe thalassemias in Zhuhai City of Guangdong Province from 1998 to 2010. As the guide centre of marriage and childbearing and the greatest maternity hospital in Zhuhai City of Guangdong Province, Zhuhai Municipal Maternity and Child Healthcare Hospital constructed the genetic screening network for thalassemias testing and referred for follow-up and for genetic counseling. The couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled to this preventive control program. A conventional strategy of screening for heterozygote was used to identify the α- and β-thalassemia traits in women and their spouses according to the standard procedures of hematological phenotype analysis which was recommended by Thalassemia International Federation (TIF). Then those suspected couples at risk were diagnosed for α- and β-thalassemia by PCR-based DNA assays. The couples at risk for severe thalassemias were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus in the rights of consent and of option voluntarily. From January 1998 to December 2010, 85 522 brides and grooms-to-be for premarital screening and 41 503 pregnant women in addition to 14 141 partners for prenatal screening were recorded, the covering rates of premarital screening and prenatal screening in the city were 92.698% (from 1998 to 2003) and 27.667% (from 2004 to 2010), respectively. Totally 10 726 cases were found to be the carriers of thalassemias, with 7393 for α-thalassemia (5.237%, 7 393/141 166) and 3333 for β-thalassemia (2.361%, 3 333/141 166). A total of 257 couples at-risk for severe thalassemias were detected including 190 for α-thalassemia and 67 for β-thalassemia. Among them, 251 (97.7%, 251/257) couples were performed prenatal diagnosis. During the preventive control program, a total of 72 fetuses with severe thalassemias including hemoglobin H disease

  7. Application of chromosomal microdissection, polymerase chain reaction (PCR), and reverse chromosome painting in prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Wang, N.; Xu, J.; Cedrone, E. [Univ. of Rochester School of Medicine, Rochester, NY (United States)

    1994-09-01

    De novo marker chromosomes have been found in about 0.04% of amniotic fluid cultures. The origin of these marker chromosomes is difficult to identify by routine chromosome banding analysis. In the present study, we applied microdissection, PCR, and reverse chromosome painting to two amniotic fluid cases with a karyotype of 47,XX,+mar, and 47,XX,+?i(9p), respectively. Fluorescence in situ hybridization of the biotin-labeled DNA probe generated from 5 copies of the dissected marker chromosomes was applied to the normal metaphase spreads and revealed that the marker originated from the p arm of chromosomes 14 and 22, while the ?i(9p) was actually i(4p). Reverse painting of the same probe to the metaphase spreads of the patients completely painted the marker chromosomes in question, which confirms the accuracy of the analysis. Our study provides an example of the application of chromosome microdissection and molecular cytogenetics in prenatal diagnosis for the identification of marker chromosomes unidentifiable by routine analysis.

  8. Effectiveness of β-thalassemia prenatal diagnosis in Southern Iran: a cohort study.

    Science.gov (United States)

    Moghadam, Mohamad; Karimi, Mehran; Dehghani, Seyed Javad; Dehbozorgian, Javad; Montazeri, Somaye; Javanmardi, Elham; Asadzade, Rahimeh; Amiri, Azizollah; Saghatoleslam, Zahra; Sotodegan, Fatemosadat; Morshedi, Nazila; Imanifard, Jaber; Afrasiabi, Abdolreza

    2015-12-01

    The aim of this study was to evaluate the effectiveness of prenatal diagnosis (PND) for the prevention of thalassemia in Southern Iran. From 2004 to 2012 1346 couples with β-thalassemia minor were referred to our center. Mutation analyses utilized different methods including polymerase chain reaction-based technique of amplification refractory mutation system (ARMS), Restriction Fragment Length Polymorphism Analysis of PCR-Amplified Fragments (PCR-RFLP) and Gel Electrophoresis and direct sequencing. Haplotype analysis of the β-globin gene cluster was done routinely using the PCR-RFLP technique. Of the 1346 couples, 884 (66%) requested PND. They had a total of 985 pregnancies (954 singleton and 31 twin pregnancies): the 1016 fetuses underwent chorionic villus sampling (CVS). Thalassemia major was diagnosed in 266 cases (26.2%), and termination of pregnancy was requested by the parents in 264 of them (99%). Thalassemia trait was detected in 499 (49.1%) and 251 cases (24.7%) showed no β-thalassemia mutations. There were three misdiagnoses (0.4%) (affected children diagnosed as carriers at PND). A unique pattern of thalassemia mutations was present in the study population, with IVS II-I (G→A), C36-37(-T), IVS I-5(G>C), -25bpdel (252-276), IVS I-110(G>A) and C44 (-C) being present in 62% of cases. The pattern of distribution of thalassemia mutations differs among ethnic groups within the same country. © 2015 John Wiley & Sons, Ltd.

  9. Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound.

    Science.gov (United States)

    Rios, Livia T; Araujo Júnior, Edward; Caetano, Ana C R; Nardozza, Luciano M; Moron, Antonio F; Martins, Marília G

    2012-01-01

    THE EEC SYNDROME IS A GENETIC ANOMALY CHARACTERIZED BY THE TRIAD: ectodermal dysplasia (development of anomalies of the structures derived from the embryonic ectodermal layer), ectrodactyly (extremities, hands and feet malformations) and cleft lip and/or palate; these malformations can be seen together or in isolation. The prenatal diagnosis can be made by two-dimensional ultrasonography (2DUS) that identifies the facial and/or limb anomalies, most characteristic being the "lobster-claw" hands. The three-dimensional ultrasonography (3DUS) provides a better analysis of the malformations than the 2DUS. A 25-year-old primigravida, had her first transvaginal ultrasonography that showed an unique fetus with crow-rump length of 47 mm with poorly defined hands and feet,. She was suspected of having sporadic form of EEC syndrome. The 2DUS performed at 19 weeks confirmed the EEC syndrome, showing a fetus with lobster-claw hands (absence of the 2(nd) and 3(rd) fingers), left foot with the absence of the 3rd toe and the right foot with syndactyly, and presence of cleft lip/palate. The 3DUS defined the anomalies much better than 2DUS including the lobster-claw hands.

  10. Prenatal diagnosis and selective abortion: a result of the cultural turn?

    Science.gov (United States)

    Bromage, D I

    2006-06-01

    There is a growing trend in obstetric medicine of prenatal diagnosis and the selective abortion of foetuses that are likely to be born with a disability. Reasons commonly given to explain this trend include the financial implications of screening and testing policies, the disruption to families caused by the birth of a child with a disability, and the potential quality of life of the unborn child. This paper reflects upon another possible reason for this. It is argued that it is, in part, a consequence of our attitudes towards disability and a pursuit of aesthetic perfection. These attitudes arise from a social context that may be explained by considering the effect on the disabled community of the transition from modernity to postmodernity. This shift is demonstrated by inspecting some of the synonymous developments in art history. It is suggested that this "cultural turn" may have both helped and hindered people with disabilities, but the hypothesis requires further testing. This could best be achieved with a qualitative study of what motivates parental decision making in the obstetric unit.

  11. Unilateral pulmonary agenesis associated with oesophageal atresia and tracheoesophageal fistula: A case report with prenatal diagnosis.

    Science.gov (United States)

    Miyano, Go; Morita, Keiichi; Kaneshiro, Masakatsu; Miyake, Hiromu; Koyama, Mariko; Nouso, Hiroshi; Yamoto, Masaya; Nakano, Reiji; Tanaka, Yasuhiko; Nishiguchi, Tomizo; Kawamura, Takakazu; Fukumoto, Koji; Urushihara, Naoto

    2015-01-01

    We describe herein a case of unilateral pulmonary agenesis (PA) with oesophageal atresia (EA)/tracheoesophageal fistula (TEF) that was diagnosed prenatally and repaired by esophagoesophagostomy with stable postoperative course. The patient was born at 34 weeks gestation, after ultrasonography at 22 weeks gestation showed possible right-sided diaphragmatic eventration or PA and EA was subsequently suspected due to hydramnios. The initial X-ray showed mediastinal shift to the right, and coil up sign of the nasogastric tube, without intracardiac anomaly. Immediately after the diagnosis of EA/TEF and unilateral PA on day 0, the patient was intubated in the operating room, and a gastrostomy tube was placed. After pulmonary status stabilized, at 4 days old, EA/TEF was repaired through a thoracotomy in the right 4 th intercostal space. The right main bronchus was noted to continue into the distal oesophagus; this fistula was ligated and divided, and a single-layer esophagoesophagostomy was performed under mild tension with one vertebral gap. The neonate was maintained on mechanical ventilation and gradually weaned to extubation at 7 days old. The postoperative course was uneventful, with the exception of prolonged jaundice that emerged at 3 months old. Laparoscopic cholangiography at that time excluded biliary atresia, and jaundice resolved spontaneously. The patient has not shown any respiratory symptoms or feeding difficulties as of the 12-month follow-up.

  12. Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas

    Institute of Scientific and Technical Information of China (English)

    ZHU Hai-yan; HU Ya-li; YANG Ying; WU Xing; ZHU Rui-fang; ZHU Xiang-yu; DUAN Hong-lei; ZHANG Ying; ZHOU Jin-yong

    2011-01-01

    Background Multiple osteochondromas (MO), an inherited autosomal dominant disorder, is characterized by the presence of multiple exostoses on the long bones. MO is caused by mutations in the EXT1 or EXT2 genes which encode glycosyltransferases implicated in heparin sulfate biosynthesis.Methods In this study, efforts were made to identify the underlying disease-causing mutations in patients from two MO families in China.Results Two novel EXT1 gene mutations were identified and no mutation was found in EXT2 gene. The mutation c.497T>A in exon 1 of the EXT1 gene was cosegregated with the disease phenotype in family 1 and formed a stop codon at amino acid site 166. The fetus of the proband was diagnosed negative. In family 2, the mutation c. 1430-1431delCC in exon 6 of the EXT1 gene would cause frameshift and introduce a premature stop codon after the reading frame being open for 42 amino acids. The fetus of this family inherited this mutation from the father.Conclusions Mutation analysis of two MO families in this study demonstrates its further application in MO genetic counseling and prenatal diagnosis.

  13. Analysis of Fetal Blood: Is There Still a Role for Prenatal Diagnosis of Thalassemia?

    Science.gov (United States)

    Yang, Yu; He, Ping; Li, Dong-Zhi

    2016-01-01

    The aim of the present study was to report the use of analysis of fetal blood in prenatal diagnosis (PND) of β- and α-thalassemia (β- and α-thal), at a Chinese tertiary, maternity center. All cases undergoing invasive testing for PND of thalassemias from 1 January 2010 to 31 December 2014 were included. The main clinical characteristics of these invasive procedures were retrieved from the database software used for analysis. One thousand, nine hundred and six invasive PNDs were carried out for thalassemia, including 904 cases for β-thal and 1002 for α-thal. In the 904 PNDs for β-thal, chorionic villus sampling (CVS) was done in 321 cases and amniocentesis in 583 cases. No fetal blood analysis was used for cases at-risk for β-thal. In the 1002 PNDs for α-thal, CVS was done in 724 cases, amniocentesis in 137 cases and fetal blood analysis in 141 cases. All the 278 cases sampled by amniocentesis or fetal blood analysis were found to be affected by Hb Bart's (γ4) disease. Currently, fetal blood analysis is considered only in relatively late gestation when Hb Bart's disease has already been identified by ultrasound in a fetus at-risk for α-thal.

  14. Disability rights, prenatal diagnosis and eugenics: a cross-cultural view.

    Science.gov (United States)

    Raz, Aviad E

    2005-06-01

    This paper considers the disability rights critique of genetic testing in the context of different communities and the issue of nondirectiveness. Despite the wide usage of genetic diagnosis in Israel, no public debate has emerged there concerning disability rights and prenatal testing. The common attitude that emerged from interviews with Israeli representatives of organizations "of'' and "for'' people with genetic diseases and congenital disabilities can be described as a two-fold view of disability: support of genetic testing during pregnancy, and support of the disabled person after birth. This two-fold view is explained as a secular construction situated in legal, economic and cultural contexts. The paper concludes by considering the implications of the "two-fold view'' of disability for the profession of genetic counseling. It is argued that awareness of the existence of conflicting views among clients--such as the view of the 'disability critique' as well as of the "two-fold view of disability''--should strengthen the significance of nondirectiveness.

  15. Prenatal molecular diagnosis of β-thalassemia and sickle cell anemia in the Syrian population.

    Science.gov (United States)

    Murad, Hossam; Moassas, Faten; Jarjour, Rami; Mukhalalaty, Yasser; Al-Achkar, Walid

    2014-01-01

    Our objective was to evaluate the prenatal diagnosis (PND) of β-thalassemia (β-thal) and sickle cell anemia in Syria. Mutations detected from blood of at-risk couples and 55 amniotic fluid samples collected at the second trimester of pregnancy (14-22 weeks' gestation) were characterized. Molecular screening and direct DNA sequencing of the HBB gene was carried out. DNA analyses showed 14 affected fetuses (25.45%), 32 (58.18%) carriers and eight (14.54%) normal fetuses. It appears that 20.0% of individuals carried the sickle cell anemia mutation and 80.0% carried the β-thal mutation. Thirteen different known mutations were detected in the fetuses. The most common mutations were: IVS-II-1 (G > A), codon 39 (C > T)], IVS-I-110 (G > A), IVS-I-1 (G > A) and IVS-I-5 (G > C). The Hb S [β6(A3)Glu → Val; HBB: c.20A > T] mutation was the only abnormal hemoglobin (Hb) that was found. The results point to a successful future for PND of β-thal and sickle cell anemia in Syria, using a rapid and accurate molecular method. We hope that this method will be used as a common application approach to decrease the incidence of β-thal major (β-TM).

  16. [Diagnostic strategy of beta-thalassemic mutation in a Tunisian family, application in prenatal diagnosis].

    Science.gov (United States)

    Khelil, A H; Laradi, S; Ferchichi, S; Carion, N; Béjaoui, M; Saad, A; Chaieb, A; Miled, A; Ben Chibani, J; Perrin, P

    2003-01-01

    At present, the application of combined methods in molecular biology allows us to carry out the prenatal diagnosis in a more rapid and less onerous manner especially when the family presents an index case. In this study, we have analyzed a family with one case of intermediate beta-thalassemia. First, we have used the denaturing gradient gel electrophoresis (DGGE). Then, we have identified the mutations by the refractory mutation system technique (ARMS PCR) using specific primers for the most frequent mutations in the Tunisian population (codon 39 (C --> T) and IVS-I-2 (T--> G) for beta0 thalassemias and IVS-I-110 (G --> A) for beta+ thalassemias). The analyzed family has shown the IVS-I-110 (G --> A) mutation in the heterozygous state in the mother and the index case. Subsequently, sequencing in the gene revealed a frameshift 8 (-AA) mutation in the father and his daughter. This patient is thus a compound heterozygote Codon 8 (-AA)/IVS-I-110. DGGE and ARMS PCR analysis of foetal DNA extracted from trophoblast culture didn't show any of the two mutations found in the family.

  17. Carrier Screening and Prenatal Gene Diagnosis of β-thalassemia by PCR-RDB Technique

    Institute of Scientific and Technical Information of China (English)

    张宏秀; 单可人; 惠春林; 何燕; 袁筑华; 窦友莲; 曾金琳; 谢渊; 修瑾

    2003-01-01

    In order to identify the distribution of gene types of β-thalassemia and reduce the birthrates of β-thalassemia major in Guiyang area, 1054 pregnant women and their spouses from Affiliated Hospital, Guiyang Medical College were screened. The positive samples were analyzed with polymerase chain reaction and reverse dot blot method (PCR-RDB). When both partners were heterozygous identified as carriers for β- thalassemia, the risk of having a fetus who was homozygous or compound heterozygous was 2.66 %; the ratio of male to female was 1/1.15. Seven types of mutation were identified. CD17 and CD41-42 were dominant among them. Among the 4 cases subject to prenatal gene diagnosis, one fetus was completely normal and 3 fetuses were diagnosed as having β-thalassemia major (1 homozygous and 2 compound heterozygous). The fetuses diagnosed as β-thalassemia major were selectively terminated within two weeks. It was concluded that the birthrate of β-thalassemia major in Guiyang area was reduced and the target of improving birth outcome and child development has been achieved.

  18. Unilateral pulmonary agenesis associated with oesophageal atresia and tracheoesophageal fistula: A case report with prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Go Miyano

    2015-01-01

    Full Text Available We describe herein a case of unilateral pulmonary agenesis (PA with oesophageal atresia (EA/tracheoesophageal fistula (TEF that was diagnosed prenatally and repaired by esophagoesophagostomy with stable postoperative course. The patient was born at 34 weeks gestation, after ultrasonography at 22 weeks gestation showed possible right-sided diaphragmatic eventration or PA and EA was subsequently suspected due to hydramnios. The initial X-ray showed mediastinal shift to the right, and coil up sign of the nasogastric tube, without intracardiac anomaly. Immediately after the diagnosis of EA/TEF and unilateral PA on day 0, the patient was intubated in the operating room, and a gastrostomy tube was placed. After pulmonary status stabilized, at 4 days old, EA/TEF was repaired through a thoracotomy in the right 4 th intercostal space. The right main bronchus was noted to continue into the distal oesophagus; this fistula was ligated and divided, and a single-layer esophagoesophagostomy was performed under mild tension with one vertebral gap. The neonate was maintained on mechanical ventilation and gradually weaned to extubation at 7 days old. The postoperative course was uneventful, with the exception of prolonged jaundice that emerged at 3 months old. Laparoscopic cholangiography at that time excluded biliary atresia, and jaundice resolved spontaneously. The patient has not shown any respiratory symptoms or feeding difficulties as of the 12-month follow-up.

  19. Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report

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    Pedro Alí Díaz-Véliz Jiménez

    2013-10-01

    Full Text Available The most common karyotype of the Turner syndrome is 45,X, although it may occur as mosaic 45,X/46,XX. In the Provincial Medical Genetics Center, a 42-year-old pregnant woman underwent an amniocentesis which led to the detection of mosaic Turner Syndrome (45,X/46,XX. A male was diagnosed through ultrasound and a sample of amniotic fluid was sent to the National Medical Genetics Center to confirm it. A study of the SRY gene was completed and the result was positive. The patient decided to terminate the pregnancy. The pathology report showed a fetal corpse of 25, 3 weeks of gestation, with penis and morphologically normal scrotal sacs, presenting alterations by cysts and hypoplasia of the prostate and seminal vesicles as well as testicular absence. In the literature, cases of XX males are considered uncommon while those combining a mosaic 45, X/46, XX with a SRY gene are less addressed; and therein lies the importance of this case. This article presents the results of a prenatal diagnosis of this rare chromosomal aberration.

  20. Mutation analysis of GJB2 gene and prenatal diagnosis in a non-syndromic deafness family

    Directory of Open Access Journals (Sweden)

    Xiao-hua CHEN

    2014-08-01

    Full Text Available Objective To identify the pathogenic gene in a non-syndromic deafness family, provide an accurate genetic consultation and early intervention for deaf family to reduce the incidence of congenital deafness. Methods Mutation analysis was carried out by polymerase chain reaction followed by DNA sequencing of coding region of GJB2 gene. The fetal DNA was extracted from the amniotic fluid cells by amniocentesis at 20 weeks during pregnancy. The genotype of the fetus was characterized for predicting the status of hearing. Results Complex heterozygous mutations 235delC and 176-191del16bp were detected in the proband of the family, heterozygous mutation 176-191del16bp was detected in the father, and 235delC was detected in the mother. Fetus carried 235delC heterozygous mutation inherited from his mother. Conclusions The proband's hearing loss is resulted from the complex heterozygous mutations 235delC and 176-191del16bp in GJB2 gene. Fetus is a heterozygous mutation 235delC carrier. Prenatal diagnosis for deafness assisted by genetic test can provide efficient guidance about offspring's hearing condition, and prevent another deaf-mute member from birth. DOI: 10.11855/j.issn.0577-7402.2014.07.09

  1. Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

    DEFF Research Database (Denmark)

    Gregersen, N; Winter, V; Jensen, P K;

    1995-01-01

    Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G......--involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive...... polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members....

  2. Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

    DEFF Research Database (Denmark)

    Gregersen, N; Winter, V; Jensen, P K;

    1995-01-01

    Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G......) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors--in addition to MCAD mutations......--involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive...

  3. Prenatal Diagnosis of Amniotic Band Syndrome in the Third Trimester of Pregnancy using 3D Ultrasound

    Directory of Open Access Journals (Sweden)

    Luciano Marcondes Machado Nardozza

    2012-01-01

    Full Text Available Amniotic band syndrome is characterized by a build-up of bands and strings of fibrous tissue that adhere to the fetus and can compress parts of the fetus, thus causing malformations and even limb amputation while the fetus is still in the uterus. The clinical manifestations are extremely variable and their extent may range from a single abnormality, like a constriction ring, to multiple abnormalities. Such abnormalities are generally diagnosed at the end of the first or the beginning of the second trimester using two-dimensional ultrasonography (2DUS. Three-dimensional ultrasonography (3DUS in rendering mode allows spatial analysis of the fetus and amniotic band, thus enabling better comprehension of this pathological condition and better counseling for the parents. There has not previously been any evidence to show that 3DUS would be useful in cases of late diagnosis (third trimester of amniotic band syndrome. In the present case, a primigravid woman underwent her second obstetric ultrasound scan in the 34 th week, from which we observed two bands in contact with the right forearm, but with normal movement of this limb and its fingers. 3DUS made it possible to see the spatial relationship of these bands to the fetal body, thereby confirming their adherence to the limb. After the birth, the prenatal diagnosis of amniotic band syndrome without limb constriction was confirmed. A surgical procedure was carried out on the third day after birth to excise the bands, and the newborn was then discharged in a good general condition.

  4. The combined QF-PCR and cytogenetic approach in prenatal diagnosis.

    Science.gov (United States)

    Tekcan, Akin; Tural, Sengul; Elbistan, Mehmet; Kara, Nurten; Guven, Davut; Kocak, Idris

    2014-11-01

    In this study, the importance of quantitative fluorescence polymerase chain reaction (QF-PCR) aneuploidy diagnosis test which provides earlier and easier results were discussed. The cell cultures and DNA isolations were performed on 100 amniotic fluids. DNA isolations were made from peripheral blood samples of mothers who had blood-stained amniotic fluid samples. The reasons of references of these pregnant women to our division were increased maternal age, positive double/triple screening test and fetal anomaly history. QF-PCR applied to 19 short tandem repeat markers in the chromosomes 13, 18, 21 and genes X and Y chromosomes. All electropherogram peaks were evaluated on ABI3130. Thirty two (32%) samples have high maternal age, seven (7%) have fetal anomaly and the others have double/triple screening test positivity. Ninety-nine (99%) of the 100 amniotic fluid samples were resulted, but one (1%) of them could not examined because of the culture failure. The maternal contamination rates were determined as 3%. Of 100 samples, 2 had trisomy 21 (2%), 1 had trisomy 13 (1%), 1 had structural abnormalities (1%) and the others (97%) have not any aneuploidy. The results of QF-PCR were in compatible with the results of cell culture and chromosome analysis. Although QF-PCR is an easier and an earlier test, it has a limitation of not to able to scan full genome. It is also sensitive for maternal contamination, so it should be tested together with maternal blood samples. QF-PCR aneuploidy test is the fastest diagnostic test for prenatal diagnosis and so it provides less stressful period for pregnant women.

  5. CONFIRMATION OF CLINICAL-DIAGNOSIS IN REQUESTS FOR PRENATAL PREDICTION OF SMA TYPE-I

    NARCIS (Netherlands)

    COBBEN, JM; DEVISSER, M; SCHEFFER, H; OSINGA, J; VANDERSTEEGE, G; BUYS, CHCM; VANOMMEN, GJ; TENKATE, LP

    The recent discovery of a major SMA-locus in the chromosomal region 5q makes it possible to carry out prenatal DNA studies in families in which a child with SMA type I has been born. Since direct mutation analysis is not yet possible, the reliability of prenatal prediction of SMA type I usually

  6. Prenatal diagnosis of 45,X/46,XY mosaicism in a fetus with asymmetric gonadal dysgenesis.

    Science.gov (United States)

    Kirkilionis, A J; Rodney, P; Sergovich, F R; Armstrong, R

    1987-09-01

    An 18 week abortus had been prenatally diagnosed as a 45,X/46,XY mosaic. The fetus was a phenotypic male with glandular hypospadias, a horseshoe kidney and asymmetric gonadal dysgenesis. This case represents a rare instance of prenatally diagnosed 45,X/46,XY mosaicism with an abnormal phenotype.

  7. Trends in the utilization of invasive prenatal diagnosis in The Netherlands during 2000-2009

    NARCIS (Netherlands)

    Lichtenbelt, Klaske D.; Alizadeh, Behrooz Z.; Scheffer, Peter G.; Stoutenbeek, Philip; Schielen, Peter C. J. I.; Page-Christiaens, Lieve C. M. L.; Schuring-Blom, G. Heleen

    Objective To analyze trends in the number and type of invasive procedure, reasons for referral, maternal age and chromosomal abnormalities over a 10-year period and correlate the trends to changes in the national prenatal screening policy. Methods Data from 10 706 invasive prenatal procedures

  8. Trends in the utilization of invasive prenatal diagnosis in The Netherlands during 2000-2009

    NARCIS (Netherlands)

    Lichtenbelt, Klaske D.; Alizadeh, Behrooz Z.; Scheffer, Peter G.; Stoutenbeek, Philip; Schielen, Peter C. J. I.; Page-Christiaens, Lieve C. M. L.; Schuring-Blom, G. Heleen

    2011-01-01

    Objective To analyze trends in the number and type of invasive procedure, reasons for referral, maternal age and chromosomal abnormalities over a 10-year period and correlate the trends to changes in the national prenatal screening policy. Methods Data from 10 706 invasive prenatal procedures yieldi

  9. CONFIRMATION OF CLINICAL-DIAGNOSIS IN REQUESTS FOR PRENATAL PREDICTION OF SMA TYPE-I

    NARCIS (Netherlands)

    COBBEN, JM; DEVISSER, M; SCHEFFER, H; OSINGA, J; VANDERSTEEGE, G; BUYS, CHCM; VANOMMEN, GJ; TENKATE, LP

    1993-01-01

    The recent discovery of a major SMA-locus in the chromosomal region 5q makes it possible to carry out prenatal DNA studies in families in which a child with SMA type I has been born. Since direct mutation analysis is not yet possible, the reliability of prenatal prediction of SMA type I usually depe

  10. 胎儿脑灰质异位的产前诊断及文献回顾%Prenatal diagnosis of fetal gray matter heteropia in one case and literature review

    Institute of Scientific and Technical Information of China (English)

    张葵; 李胜利; 华轩; 袁鹰

    2015-01-01

    Objective To investigate the prenatal ultrasonic manifestations of fetal gray matter heterotopias (FGMH) and evaluate the optimal method its prenatal diagnosis. Methods The prenatal and postnatal ultrasound images and MRI images were analyzed for a fetus with a definitive diagnosis of FGMH. The detection rates of FGMH by prenatal ultrasound and MRI reported in literature were compared. Results We identified 11 reports of FGMH from 1998 to 2015, involving 43 cases with prenatal diagnoses. Of the total of 44 cases (including our case), 32 that had been confirmed postpartum had prenatal ultrasound and MRI data, which showed a significantly lower detection rates of FGMH by prenatal ultrasound than by MRI (43.8% vs 93.8%, P<0.001). Conclusions Prenatal ultrasound can only detect subependymal heterotopia with characteristic manifestations, and the detection of other types of FGMH relies on MRI, which is currently the best option for prenatal diagnosis of FGMH.%目的:探讨胎儿大脑灰质异位(FGMH)的产前超声图像特征并评价其最佳产前诊断方法。方法对1例大脑灰质异位产前产后超声图像以及核磁共振图像进行分析,结合产前诊断该病的相关文献进行回顾性分析,比较产前超声及MRI对FGMH的检出率。结果总结1998~2015年文献11篇,结合本文报道1例,产前诊断灰质异位44例,经活产或引产后证实且有产前超声和产前MRI资料者32例,其中超声检出率43.8%,MRI检出率93.8%,二者检出率比较差异有统计学意义(P<0.001)。结论只有室管膜下型大脑灰质异位才有可能为产前超声所发现,其他类型主要依靠MRI。MRI是FGMH最佳产前诊断方法,当产前超声提示灰质异位时都应进一步行MRI检查。

  11. Noninvasive Fetal Trisomy (NIFTY test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies

    Directory of Open Access Journals (Sweden)

    Jiang Fuman

    2012-12-01

    Full Text Available Abstract Background Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy. Methods We developed an advanced noninvasive prenatal diagnosis method based on massively parallel sequencing. The Noninvasive Fetal Trisomy (NIFTY test, combines an optimized Student’s t-test with a locally weighted polynomial regression and binary hypotheses. We applied the NIFTY test to 903 pregnancies and compared the diagnostic results with those of full karyotyping. Results 16 of 16 trisomy 21, 12 of 12 trisomy 18, two of two trisomy 13, three of four 45, X, one of one XYY and two of two XXY abnormalities were correctly identified. But one false positive case of trisomy 18 and one false negative case of 45, X were observed. The test performed with 100% sensitivity and 99.9% specificity for autosomal aneuploidies and 85.7% sensitivity and 99.9% specificity for sex chromosomal aneuploidies. Compared with three previously reported z-score approaches with/without GC-bias removal and with internal control, the NIFTY test was more accurate and robust for the detection of both autosomal and sex chromosomal aneuploidies in fetuses. Conclusion Our study demonstrates a powerful and reliable methodology for noninvasive prenatal diagnosis.

  12. Prenatal diagnosis of 45,X/46,XY mosaicism with postnatal confirmation in a phenotypically normal male infant.

    Science.gov (United States)

    Hsu, L Y; Kim, H J; Hausknecht, R; Hirschhorn, K

    1976-10-01

    Prenatal detection of chromosome mosaicism has always been a diagnostic dilemma. In 21 reported cases of chromosomal mosaicism in cultured amniotic fluid cells, only two cases had cytogenetic confirmation of the mosaicism. All 21 pregnancies resulted in either phenotypically normal liveborns or grossly normal abortuses. We report a case of XO/XY mosaicism detected prenatally and confirmed postnatally in a grossly normal male infant. The indication for prenatal cytogenetic diagnosis was advanced maternal age (38 years). A diagnosis of XO/XY mosaicism was made from two separate culture flasks of amniotic fluid cells, with 45,X cells predominating (86.4%). The Y chromosome was of normal size but carried no fluorescent band. The parents were counseled and were advised that the phenotype of XO/XY mosaicism can range from relative normality to sexual maldevelopment. They decided to continue this pregnancy. The infant was born at term and was a grossly normal male with normal penis and descended, normal-sized testes. Leukocyte culture from the cord blood and a skin fibroblast culture confirmed the mosaicism of XO/XY. The father's Y chromosome was of identical size and carried a small fluorescent band. It appears that an altered Y chromosome may be predisposed to anaphase lag leading to mosaicism.

  13. Advances in prenatal screening and prenatal diagnosis for birth defect%出生缺陷产前筛查及产前诊断研究进展

    Institute of Scientific and Technical Information of China (English)

    吴清明; 周瑾

    2011-01-01

    出生缺陷已成为世界婴儿死亡、儿童和成人残疾的主要原因之一,是目前全世界关注的一个重大公共卫生问题.出生缺陷由遗传因素、环境致畸因素或两者共同作用所致.我国是出生缺陷高发国家,通过早期诊断、早期干预可以避免至少70%出生缺陷.出生缺陷干预是一个系统工程,产前筛查和产前诊断是胎儿出生缺陷干预的有效手段,是出生缺陷干预二级预防中的重要组成部分.%Birth defects has been one of main causes of infant mortality, children and adult disability, and are becoming main public heath problem worldwide. Birth defects are associated with environmental factors, genetic factors or interactions of the genetic factors and environmental factors. It is high rates of birth defects in China, at least 70% of the birth defects can be avoided of early diagnosis is determined and early interventions are performed. Intervention of birth defects is a system process, prenatal screening and prenatal diagnosis are effective interventions, and they are the key components of the secondary prevention in birth defects control.

  14. Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling

    Directory of Open Access Journals (Sweden)

    Ruchi Nadar

    2013-01-01

    Full Text Available Familial isolated growth hormone deficiency (GHD type 1 is characterized by an autosomal recessive pattern of inheritance with varying degrees of phenotypic severity. We report a proband, with isolated GHD (IGHD with very early growth arrest and undetectable levels of GH. Homozygous complete deletion of the GH1 gene was identified by real-time/quantitative polymerase chain reaction (RT/q-PCR and confirmed by an independent molecular genetic method; the multiplex ligation-dependent probe amplification (MLPA technique. Prenatal diagnosis was offered for the subsequent pregnancy in the mother of our proband. Identical heterozygous deletion of the GH1 gene was detected in both parents. The fetus had a similar homozygous deletion of the GH1 gene. We thus report a unique case with a confirmed mutation in GH1 gene in the proband followed by prenatal detection of the same mutation in the amniotic fluid which to our knowledge hitherto has not been documented from India.

  15. The use of chromosomal microarray for prenatal diagnosis.

    Science.gov (United States)

    Dugoff, Lorraine; Norton, Mary E; Kuller, Jeffrey A

    2016-10-01

    Chromosomal microarray analysis is a high-resolution, whole-genome technique used to identify chromosomal abnormalities, including those detected by conventional cytogenetic techniques, as well as small submicroscopic deletions and duplications referred to as copy number variants. Because chromosomal microarray analysis has a greater resolution than conventional karyotyping, it can detect deletions and duplications down to a 50- to 100-kb level. The purpose of this document is to discuss the technique, advantages, and disadvantages of chromosomal microarray analysis and its indications and limitations. We recommend the following: (1) that chromosomal microarray analysis be offered when genetic analysis is performed in cases with fetal structural anomalies and/or stillbirth and replaces the need for fetal karyotype in these cases (GRADE 1A); (2) that providers discuss the benefits and limitations of chromosomal microarray analysis and conventional karyotype with patients who are considering amniocentesis and chorionic villus sampling (CVS), and that both options should be available to women who choose to undergo diagnostic testing (GRADE 1B); (3) that pre- and posttest counseling should be performed by trained genetic counselors, geneticists, or other providers with expertise in the complexities of interpreting chromosomal microarray analysis results (Best Practice); (4) that patients be informed that chromosomal microarray analysis does not detect every genetic disease or syndrome and specifically does not detect autosomal-recessive disorders associated with single gene point mutations, as well as that chromosomal microarray analysis can detect consanguinity and nonpaternity in some cases (Best Practice); (5) that patients in whom a fetal variant of uncertain significance is detected by prenatal diagnosis receive counseling from experts who have access to databases that provide updated information concerning genotype-phenotype correlations (Best Practice

  16. Prenatal Diagnosis of Rare Familial Unbalanced Translocation of Chromosomes 7 and 12

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    Berrin Tezcan

    2015-01-01

    Full Text Available Case Details. We report rare familial unbalanced translocation of chromosomes 7 and 12, which was diagnosed prenatally at 20+3 weeks of gestation. Woman’s partner had been tested in the past and was found to be a carrier of a balanced translocation; his karyotype showed a balanced reciprocal translocation of 46, XY, t(7;12(q34;q24,32. Partner’s brother had an unbalanced form of the translocation with severe learning disability. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound and microarray analysis. Ultrasonography findings included fetal microcephaly and alobar holoprosencephaly, dysmorphic face (flat occiput, absent nasal bone, microphthalmia, hypotelorism, and single nostril, and hyperechogenic bowel. Genome-wide array analysis and cytogenetic results from the amniotic fluid showed unbalanced translocation in chromosomes 7 and 12 with deletion of an approximately 16.5 Mb and a duplication of 6.1 Mb, respectively, Arr 7q34q36.3(142,668,576-159,161,648x1,12q24.32q24.33(127,708,720-133,777,560x3, karyotype (der (7 t(7;12 (q34;q24pat. This unbalanced translocation was due to the segregation of the father’s balanced translocation. In this particular case, the recurrence of an unbalanced translocation in the subsequent pregnancies is estimated to be 20%. Understanding the individuals’ phenotype in association with the gain and loss of copy number is important and can further provide us with information on that particular region of the named chromosomes.

  17. Prenatal diagnosis of hypoplastic left heart syndrome: impact of counseling patterns on parental perceptions and decisions regarding termination of pregnancy.

    Science.gov (United States)

    Hilton-Kamm, Debra; Chang, Ruey-Kang; Sklansky, Mark

    2012-12-01

    An online survey for parents of children with congenital heart disease (CHD) was developed to study parents' experiences at the time of diagnosis. The survey was distributed to online support groups. A total of 841 responses from parents of children with CHD were received during a 4-week period. The current study examined those respondents (211 [25 %]) who reported their child's diagnosis as hypoplastic left heart syndrome (HLHS). Among these, 138 (65 %) reported receiving the diagnosis prenatally. 32 % of those receiving a prenatal diagnosis reported that after they declined to terminate the pregnancy, termination was mentioned again by their physicians. Parents who had termination mentioned again after their initial decline reported significantly lower optimism regarding their child's life expectancy than those who did not have it mentioned again (66 vs. 94 %, p parents, when termination of pregnancy was mentioned after the parents declined it, or if the parents felt pressure to terminate, the parents perceived a lower chance of survival, felt less optimistic about their child's life expectancy, and were more likely to choose another PC for long-term follow-up care. Our study could not determine whether repeated discussions of the possibility for termination of pregnancy independently impacts parental optimism regarding prognosis or whether those who counsel with repeated discussions of termination tend to have more guarded notions of the prognosis of children with HLHS. Further study is warranted to identify the implications of counseling patterns on parental perceptions and decisions regarding termination of pregnancy.

  18. Diagnóstico prenatal no invasivo: Ácidos nucleicos de origen fetal en sangre materna Non invasive prenatal diagnosis: Fetal nucleic acid analysis in maternal blood

    Directory of Open Access Journals (Sweden)

    Carla Sesarini

    2010-12-01

    Full Text Available Las técnicas actuales de diagnóstico prenatal de enfermedades génicas y cromosómicas incluyen procedimientos invasivos que conllevan un pequeño, pero significativo, riesgo. Por muchos años se ha estudiado la posibilidad de utilizar células fetales en circulación materna; sin embargo, ha fracasado su implementación clínica debido a su escasez y persistencia luego del parto. Desde hace más de una década se detectó ADN fetal libre en sangre de embarazadas. Este sería de origen placentario e indetectable después del parto, y fuente de material fetal para el desarrollo de técnicas diagnósticas utilizando sangre materna. No obstante, la mayoría del ADN libre en circulación materna es de origen materno con una contribución fetal del 3% al 6% aumentando a lo largo de la gestación. Dado que los métodos actuales no permiten separar el ADN libre fetal del materno, las aplicaciones se focalizan en el análisis de genes no presentes en la madre, tales como secuencias del cromosoma Y, o gen RHD en madres Rh negativas, o mutaciones paternas o de novo. Asimismo, la detección de ARN fetal libre en sangre de embarazadas abrió la posibilidad de obtener información acerca de patrones de expresión génica de tejidos embrionarios y, utilizando genes que se expresan sólo en la unidad feto-placentaria, se podría establecer un control de presencia de material fetal, independiente del material genético de la madre. El presente trabajo describe las evidencias acerca del pasaje de ácidos nucleicos fetales a circulación materna, su aplicación actual en el diagnóstico prenatal y posibles usos futuros.Current prenatal diagnosis of monogeneic and chromosomal diseases, includes invasive procedures which carry a small but significant risk. For many years, analysis of fetal cells in maternal circulation has been studied, however it has failed its clinical use due to the scarcity of these cells and their persistance after delivery. For more than a

  19. Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial.

    Science.gov (United States)

    Wapner, Ronald J; Driscoll, Deborah A; Simpson, Joe Leigh

    2012-04-01

    Cytogenetic microarray analysis (CMA) in prenatal testing detects chromosome abnormalities and new genetic syndromes that would be missed by conventional cytogenetics and has the potential to significantly enhance prenatal genetic evaluation. A large Eunice Kennedy Shriver National Institute Of Child Health and Human Development (NICHD)-sponsored multicentered trial to assess the role of CMA as a primary prenatal diagnostic tool has been completed, and results will soon be available. Integration of this technology into clinical care will require thoughtful changes in patient counseling. Here, we examine four cases, all ascertained in the NICHD prenatal microarray study, to illustrate the challenges and subtleties of genetic counseling required with prenatal CMA testing. Although the specifics of each case are distinct, the underlying genetic principles of uncertainty, variable expressivity, and lack of precise genotype-phenotype correlation are well known and already part of prenatal counseling. Counselor and practitioner education will need to include both the science of interpreting array findings as well as development of improved approaches to uncertainty. A team approach to interpretation will need to be developed, as will standardized guidelines by professional organizations and laboratories. Of equal import is additional research into patient attitudes and desires, and a better understanding of the full phenotypic spectrum of copy number variants discovered in utero.

  20. Unpredictable Variable Prenatal Stress Programs Expression of Genes Involved in Appetite Control and Energy Expenditure

    Science.gov (United States)

    Moyer, E. L.; Al-Shayeb, B.; Baer, L. A.; Ronca, A. E.

    2016-01-01

    Exposure to stress in the womb shapes neurobiological and physiological outcomes of offspring in later life, including body weight regulation and metabolic profiles. Our previous work utilizing a centrifugation-induced hyper-gravity demonstrated significantly increased (8-15%) body mass in male, but not female, rats exposed throughout gestation to chronic 2-g from conception to birth. We reported a similar outcome in adult offspring exposed throughout gestation to Unpredictable Variable Prenatal Stress (UVPS). Here we examine gene expression changes and the plasma of animals treated with our UVPS model to identify a potential role for prenatal stress in this hypergravity programming effect. Specifically we focused on appetite control and energy expenditure pathways in prenatally stressed adult (90-day-old) male Sprague-Dawley rats.

  1. Genetic counseling for a prenatal diagnosis of structural chromosomal abnormality with high-resolution analysis using a single nucleotide polymorphism microarray

    Directory of Open Access Journals (Sweden)

    Akiko Takashima

    2016-08-01

    Full Text Available A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46,XY,add(9(p24. Chromosomal microarray analysis (CMA is utilized in prenatal diagnoses. A single nucleotide polymorphism microarray revealed a male fetus with balanced chromosomal translocations on 9p and balanced chromosomal rearrangements, but another chromosomal abnormality was detected. The fetus had microduplication. The child was born as a phenotypically normal male. CMA is a simple and informative procedure for prenatal genetic diagnosis. CMA is the detection of chromosomal variants of unknown clinical significance; therefore, genetic counseling is important during prenatal genetic testing.

  2. Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

    Science.gov (United States)

    Barisic, Ingeborg; Boban, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Bergman, Jorieke Eh; Braz, Paula; Draper, Elizabeth S; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Verellen-Dumoulin, Christine

    2015-06-01

    Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100,000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3 ± 2.6 (range 11-36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies.

  3. Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

    Science.gov (United States)

    Barisic, Ingeborg; Boban, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Bergman, Jorieke EH; Braz, Paula; Draper, Elizabeth S; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Verellen-Dumoulin, Christine

    2015-01-01

    Meckel–Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100 000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3±2.6 (range 11–36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies. PMID:25182137

  4. Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family Presentation Diagnóstico prenatal de la distrofia muscular de Duchenne. Presentación de una familia

    Directory of Open Access Journals (Sweden)

    Mariesky Zayas Guillot

    2007-05-01

    Full Text Available The Duchenne muscular dystrophy is one of the most frequent hereditary myopathies that exist. It is characterized by degeneration of the muscle skeletal fibers which produce handicap in the first decade of life bringing about death due to cardiac or respiratory failure. The responsible gene of the disease is known as DMD and it is located in the X chromosome shorter arm. A family history is presented in which the pregnant woman who is the sick patient’s sister asks for a prenatal diagnosis. An indirect molecular study was performed with the STR-50 polymorphic marker. After the analysis of the results in which the lab methodology was applied, the fetus was found to be sick and the family decided to interrupt the pregnancy.
    La distrofia muscular de Duchenne es una de las miopatías hereditarias más frecuentes que existe. Se caracteriza por la degeneración de las fibras musculares esqueléticas, que provocan la invalidez en la primera década de vida y, luego, la muerte por fallos respiratorios o cardíacos El gen responsable de la enfermedad se conoce como DMD y se localiza en el brazo corto del cromosoma X. Se presenta la historia de una familia en que, con un embarazo de 15 semanas, la hermana del enfermo solicita diagnóstico prenatal. Se realizó el estudio molecular indirecto con el marcador polimórfico STR- 50. Tras el análisis de los resultados obtenidos después de aplicada la metodología de laboratorio el feto resultó estar enfermo, y la familia optó por la interrupción del embarazo.

  5. Prenatal diagnosis of ataxia-telangiectasia and Nijmegen Breakage Syndrome by the assay of radioresistant DNA synthesis

    Energy Technology Data Exchange (ETDEWEB)

    Kleijer, W.J.; Kraan, M. van der; Los, F.J. [Erasmus Univ., Rotterdam (Netherlands). Dept. of Clinical Genetics; Jaspers, N.G.J. [Erasmus Univ., Rotterdam (Netherlands). Lab. of Cell Biology and Genetics

    1994-12-01

    Prenatal diagnosis was performed in 16 pregnancies at risk of ataxia-telangiectasia (A-T) or Nijmegen Breakage Syndrome (NBS). Radioresistant DNA synthesis (RDS) was investigated in cultured chorionic villus (CV) cells and/or amniotic fluid (AF) cells. In four pregnancies, an affected foetus was diagnosed with increased RDS in cultured CV cells. In three of the four cases confirmation of the diagnosis was obtained by analysis of AF cells and/or skin fibroblasts from the foetus cultured after termination of the pregnancy; in the fourth case a fibroblast culture from the aborted foetus failed. In one case, only AF cells could be analysed in a late stage of pregnancy; pregnancy was terminated due to intermediate/equivocal results but the foetus fibroblasts showed normal RDS. Normal RDS was demonstrated in the other 11 pregnancies at 25% risk either by analysis of CB cells (nine cases) or of AF cells (two cases). In some cases the (normal) results on the CV cells were corroborated by subsequent analysis of Af cells. The results suggest that RDS analysis of CV cells allows reliable prenatal diagnosis of A-T/NBS. However, amniocentesis may be necessary to confirm normal results on CV cells if the foetus is female (because of the risk of maternal cell contamination) or in the rare case of equivocal results. (author).

  6. Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature.

    Science.gov (United States)

    Jeon, Kwon Chan; Chen, Lei-Shih; Goodson, Patricia

    2012-01-01

    We performed a systematic review of factors affecting parental decisions to continue or terminate a pregnancy after prenatal diagnosis of a sex chromosome abnormality, as reported in published studies from 1987 to May 2011. Based on the Matrix Method for systematic reviews, 19 studies were found in five electronic databases, meeting specific inclusion/exclusion criteria. Abstracted data were organized in a matrix. Alongside the search for factors influencing parental decisions, each study was judged on its methodological quality and assigned a methodological quality score. Decisions either to terminate or to continue a sex chromosome abnormality-affected pregnancy shared five similar factors: specific type of sex chromosome abnormality, gestational week at diagnosis, parents' age, providers' genetic expertise, and number of children/desire for (more) children. Factors unique to termination decisions included parents' fear/anxiety and directive counseling. Factors uniquely associated with continuation decisions were parents' socioeconomic status and ethnicity. The studies' average methodological quality score was 10.6 (SD = 1.67; range, 8-14). Findings from this review can be useful in adapting and modifying guidelines for genetic counseling after prenatal diagnosis of a sex chromosome abnormality. Moreover, improving the quality of future studies on this topic may allow clearer understanding of the most influential factors affecting parental decisions.

  7. Acrania-anencephaly associated with hypospadias. Prenatal ultrasound and MRI diagnosis and molecular folate metabolism pathway analysis.

    Science.gov (United States)

    Tonni, Gabriele; Centini, Giovanni; Bonasoni, Maria Paola; Ventura, Alessandro; Pattacini, Pierpaolo; Cavalli, Pietro

    2012-12-01

    Acrania may occur as a single isolated malformation or associated with extracranial defects. Hypospadias is one of the most common congenital abnormalities of the genitalia frequently missed on prenatal sonograms. Second trimester two- and three-dimensional ultrasound and MRI diagnosis with necropsy and folate metabolism pathway analysis. The mechanisms leading to closure of both neural and urethral tubes, are far from being demonstrated, and molecular studies of this very rare association are lacking although it might be based on a common genetic mechanism, leading to a disturbed development pathway at the molecular level.

  8. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

    DEFF Research Database (Denmark)

    Wellesley, Diana; Dolk, Helen; Boyd, Patricia A

    2012-01-01

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the...... currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.European Journal of Human Genetics advance online publication, 11 January 2012; doi:10.1038/ejhg.2011.246....

  9. Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect in HPRT gene expression regulation.

    Science.gov (United States)

    Torres, Rosa J; Garcia, Marta G; Puig, Juan G

    2012-12-15

    Lesch-Nyhan disease (LND) is caused by lack of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity. Mutations in HPRT1 gene show variability in type and location within the gene, and in certain patients the HPRT coding sequence is normal and the molecular defect cannot be found. These patients presented a decreased HPRT1 expression of unknown cause. This is the first report of a carrier and prenatal diagnosis of LND due to a defect in HPRT gene expression regulation. Copyright © 2012 Elsevier B.V. All rights reserved.

  10. Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery.

    Science.gov (United States)

    Solomons, Joyce; Coucke, Paul; Symoens, Sofie; Cohen, Marta C; Pope, F Michael; Wagner, Bart E; Sobey, Glenda; Black, Rebecca; Cilliers, Deirdre

    2013-05-01

    Dermatosparaxis Ehlers-Danlos syndrome (or EDS VIIC), a rare autosomal recessive connective tissue disorder, is characterized by extreme skin fragility, premature rupture of membranes in pregnancy, and spontaneous rupture of internal organs. Here we report a second patient with EDS VIIC presenting with congenital skull fractures and skin lacerations at birth, complications which may occur more frequently than previously thought in this condition. We also discuss the role of prenatal diagnosis in the management of a subsequent normal pregnancy. Copyright © 2012 Wiley Periodicals, Inc.

  11. Pregnancy Outcome following Prenatal Diagnosis of Chromosomal Anomaly: A Record Linkage Study of 26,261 Pregnancies.

    Science.gov (United States)

    Jacobs, Myrthe; Cooper, Sally-Ann; McGowan, Ruth; Nelson, Scott M; Pell, Jill P

    2016-01-01

    Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies. However, we are unaware of any population studies examining pregnancy terminations after diagnosis of chromosomal anomalies that has included all aneuploidies and the influence of maternal factors. The aims of this study were to examine the association between results of prenatal tests and pregnancy termination, and the proportion of foetuses with and without chromosomal anomalies referred for invasive diagnostic tests over time. Diagnostic information of 26,261 prenatal invasive tests from all genetic service laboratories in Scotland from 2000 to 2011 was linked to Scottish Morbidity Records to obtain details on pregnancy outcome. Binary logistic regression was carried out to test the associations of year and type of diagnosis with pregnancy termination, while controlling for maternal age, neighbourhood deprivation and parity. There were 24,155 (92.0%) with no chromosomal anomalies, 1,483 (5.6%) aneuploidy diagnoses, and 623 (2.4%) diagnoses of anomaly that was not aneuploidy (including translocations and single chromosome deletions). In comparison with negative test results, pregnancies diagnosed with trisomy were most likely to be terminated (adjusted OR 437.40, 95% CI 348.19-549.46) followed by other aneuploid anomalies (adjusted OR 95.94, 95% CI 69.21-133.01). During the study period, fewer pregnancies that were diagnosed with aneuploidy were terminated, including trisomy diagnoses (adjusted OR 0.44, 95% CI 0.26-0.73). Older women were less likely to terminate (OR 0.35, 95% CI 0.28, 0.42), and parity was also an independent predictor of termination. In keeping with previous findings, while the number of invasive diagnostic tests declined, the proportion of abnormal results increased from 6.09% to 10.88%. Systematic advances in

  12. [Value of detection of cell-free fetal DNA in maternal plasma in the prenatal diagnosis of chromosomal abnormalities].

    Science.gov (United States)

    Wang, Shu-juan; Gao, Zhi-ying; Lu, Yan-ping; Li, Ya-li; You, Yan-qin; Zhang, Li-wen; Wang, Long-xia; Xu, Hong

    2012-11-01

    To investigate the value of detection of fetal cell-free fetal DNA (cff-DNA) in maternal plasma in the prenatal diagnosis of chromosomal abnormalities. The plasma from 3200 gravidas (singleton with 20.3 ± 3.8 gestational weeks) was collected from April 1(st) 2011 to May 30(th) 2012. They were divided into 3 groups: (1) To tally 1720 cases were included in the high-risk serological screening group, in which women were younger than 35 years and got high-risk results in serological screening; (2) To tally 1310 cases were included in the advanced age group, in which women's age was more than 35 years; (3) To tally 170 cases were included in the supplementary group, in which women were younger than 35 years and got low-risk results in serological screening, or women who didn't take serological screening tests. All the 3030 gravidas in group 1 and 2 didn't take invasive prenatal diagnosis because of fear of abortion or short of prenatal diagnosis. Cff-DNA were detected by next generation sequencing in Shenzhen BGI Genomics Center for clinical laboratory. Amniocentesis and karyotype analysis were provided to the positive cases and women with negative results were followed-up by telephone. (1) The 3200 cases took cff-DNA detection, and 31 cases got positive results, including 27 cases of trisomy 21 and 4 cases of trisomy 18. Sixteen cases of trisomy 21 and 1 case of trisomy 18 were in the high-risk serological screening group. 7 cases of trisomy 21 and 2 cases of trisomy 18 were in the advanced age group. Four cases of trisomy 21 and 1 case of trisomy 18 were in the supplementary group. (2) And the 84% (26/31) cff-DNA detecting positive cases received amniocentesis. In the 27 trisomy 21 positive cases, 23 received amniocentesis and got karyotype of 47XN, +21, with the diagnostic accordance rate of 100%. In the 4 cases who didn't take karyotype analysis, fetal anomaly (ventricular septal defect, dextrocardia and choroid plexus cyst) was found in 1 case before 20

  13. Prenatal Diagnosis of 7 cases Turner Syndrome%7例Turner综合征的产前诊断

    Institute of Scientific and Technical Information of China (English)

    柳爱华; 宋奉侠; 孙文芝; 张莉

    2013-01-01

    目的探讨Turner综合征不同核型的遗传学特征及产前诊断对Turner综合征检出的临床意义。方法高危孕妇通过羊膜腔穿刺术进行羊水细胞染色体核型分析。结果产前诊断发现Turner综合征7例,其中45,XX 4例;45,X/46,XX/47,XXX 1例;45,X/46, X,+mar 1例;46,X,t(X;14)1例。结论 Turner综合征包括X染色体数目异常和结构畸变等多种核型,均可不同程度导致女性不孕及其他器官功能异常。应做好产前诊断,预防出生缺陷的发生。%Objective To analyze the genetic characteristics of various chromosome karyotypes of Turner Syndrome and the significance of the prenatal diagnosis indications for Turner Syndrome. Methods Amniocentesis was used to analyze fetal chromosomal karyotypes in high-risk pregnant women. Result There were 7cases of Turner Syndrome in the prenatal diagnostic samples. Among these cases, there were 4 cases of 45,X;1 cases of 45,X/46,xx/47,XXX;1 cases of 45,X/46,X,+mar;1 cases of 46,X,t(x;14).Conclusion Turner Syndrome include abnormalities of chromosome number and struction.These abnormalities can lead to infertility and abnormal function of organs. So prenatal diagnosis should be implemented to reduce the birth defects.

  14. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.

    Science.gov (United States)

    Wellesley, Diana; Dolk, Helen; Boyd, Patricia A; Greenlees, Ruth; Haeusler, Martin; Nelen, Vera; Garne, Ester; Khoshnood, Babak; Doray, Berenice; Rissmann, Anke; Mullaney, Carmel; Calzolari, Elisa; Bakker, Marian; Salvador, Joaquin; Addor, Marie-Claude; Draper, Elizabeth; Rankin, Judith; Tucker, David

    2012-05-01

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10,323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10,000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10,000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10,000 births, respectively. There were 1,737 RCA cases (17%), giving a prevalence of 7.4/10,000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5-92%) and the prevalence of RCA (range 2.4-12.9/10,000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.

  15. Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study

    Directory of Open Access Journals (Sweden)

    Bhola Shama L

    2008-05-01

    Full Text Available Abstract Background In the past 30 years karyotyping was the gold standard for prenatal diagnosis of chromosomal aberrations in the fetus. Traditional karyotyping (TKT has a high accuracy and reliability. However, it is labor intensive, the results take 14–21 days, the costs are high and unwanted findings such as abnormalities with unknown clinical relevance are not uncommon. These disadvantages challenged the practice of karyotyping. Multiplex ligation-dependent probe amplification (MLPA is a new molecular genetic technique in prenatal diagnosis. Previous preclinical evidence suggests equivalence of MLPA and traditional karyotyping (TKT regarding test performance. Methods/Design The proposed study is a multicentre diagnostic substitute study among pregnant women, who choose to have amniocentesis for the indication advanced maternal age and/or increased risk following prenatal screening test. In all subjects, both MLPA and karyotyping will be performed on the amniotic fluid sample. The primary outcome is diagnostic accuracy. Secondary outcomes will be maternal quality of life, women's preferences and costs. Analysis will be intention to treat and per protocol analysis. Quality of life analysis will be carried out within the study population. The study aims to include 4500 women. Discussion The study results are expected to help decide whether MLPA can replace traditional karyotyping for 'low-risk' pregnancies in terms of diagnostic accuracy, quality of life and women's preferences. This will be the first clinical study to report on all relevant aspects of the potential replacement. Trial Registration The protocol is registered in the clinical trial register number ISRCTN47252164

  16. Incidental prenatal diagnosis of sex chromosome aneuploidies: health, behavior, and fertility.

    NARCIS (Netherlands)

    Pieters, J.J.; Kooper, A.J.A.; Geurts van Kessel, A.H.M.; Braat, D.D.M.; Smits, A.P.T.

    2011-01-01

    Objective. To assess the diagnostic relevance of incidental prenatal findings of sex chromosome aneuploidies. Methods. We searched with medical subject headings (MeSHs) and keywords in Medline and the Cochrane Library and systematically screened publications on postnatally diagnosed sex chromosomal

  17. "Everything you need to know": how women's magazines structure prenatal diagnosis for women over 35.

    NARCIS (Netherlands)

    Beaulieu, A; Lippman, A

    1995-01-01

    The use of biomedical testing and genetic counselling is usually framed as something an individual woman chooses, with little consideration given to the context in which women make these choices. In order to understand something of the context in which women (35 and over) undergo prenatal diagnostic

  18. Prenatal diagnosis of the Cockayne syndrome: Survey of 15 years experience

    NARCIS (Netherlands)

    W.J. Kleijer (Wim); M.L.T. van der Sterre (Marianne); V.H. Garritsen (Victor); A. Raams (Anja); N.G.J. Jaspers (Nicolaas)

    2006-01-01

    textabstractObjective: Evaluation of results in a consecutive series of 29 prenatal diagnoses for the Cockayne syndrome. Methods: Recovery of DNA-synthesis in UV-irradiated cultured fetal cells was measured by scintillation counting of incorporated 3H-thymidine. Semiquantitative autoradiographic ass

  19. "Everything you need to know": how women's magazines structure prenatal diagnosis for women over 35.

    NARCIS (Netherlands)

    Beaulieu, A; Lippman, A

    1995-01-01

    The use of biomedical testing and genetic counselling is usually framed as something an individual woman chooses, with little consideration given to the context in which women make these choices. In order to understand something of the context in which women (35 and over) undergo prenatal diagnostic

  20. Differentially Expressed MicroRNAs in Maternal Plasma for the Noninvasive Prenatal Diagnosis of Down Syndrome (Trisomy 21

    Directory of Open Access Journals (Sweden)

    Julian Kamhieh-Milz

    2014-01-01

    Full Text Available Objectives. Most developmental processes are under the control of small regulatory RNAs called microRNAs (miRNAs. We hypothesize that different fetal developmental processes might be reflected by extracellular miRNAs in maternal plasma and may be utilized as biomarkers for the noninvasive prenatal diagnosis of chromosomal aneuploidies. In this proof-of-concept study, we report on the identification of extracellular miRNAs in maternal plasma of Down syndrome (DS pregnancies. Methods. Using high-throughput quantitative PCR (HT-qPCR, 1043 miRNAs were investigated in maternal plasma via comparison of seven DS pregnancies with age and fetal sex matched controls. Results. Six hundred and ninety-five miRNAs were identified. Thirty-six significantly differentially expressed mature miRNAs were identified as potential biomarkers. Hierarchical cluster analysis of these miRNAs resulted in the clear discrimination of DS from euploid pregnancies. Gene targets of the differentially expressed miRNAs were enriched in signaling pathways such as mucin type-O-glycans, ECM-receptor interactions, TGF-beta, and endocytosis, which have been previously associated with DS. Conclusions. miRNAs are promising and stable biomarkers for a broad range of diseases and may allow a reliable, cost-efficient diagnostic tool for the noninvasive prenatal diagnosis of DS.

  1. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.

    Science.gov (United States)

    Sugarman, Elaine A; Nagan, Narasimhan; Zhu, Hui; Akmaev, Viatcheslav R; Zhou, Zhaoqing; Rohlfs, Elizabeth M; Flynn, Kerry; Hendrickson, Brant C; Scholl, Thomas; Sirko-Osadsa, Deborah Alexa; Allitto, Bernice A

    2012-01-01

    Spinal muscular atrophy (SMA) is a leading inherited cause of infant death with a reported incidence of ~1 in 10,000 live births and is second to cystic fibrosis as a common, life-shortening autosomal recessive disorder. The American College of Medical Genetics has recommended population carrier screening for SMA, regardless of race or ethnicity, to facilitate informed reproductive options, although other organizations have cited the need for additional large-scale studies before widespread implementation. We report our data from carrier testing (n = 72,453) and prenatal diagnosis (n = 121) for this condition. Our analysis of large-scale population carrier screening data (n = 68,471) demonstrates the technical feasibility of high throughput testing and provides mutation carrier and allele frequencies at a level of accuracy afforded by large data sets. In our United States pan-ethnic population, the calculated a priori carrier frequency of SMA is 1/54 with a detection rate of 91.2%, and the pan-ethnic disease incidence is calculated to be 1/11,000. Carrier frequency and detection rates provided for six major ethnic groups in the United States range from 1/47 and 94.8% in the Caucasian population to 1/72 and 70.5% in the African American population, respectively. This collective experience can be utilized to facilitate accurate pre- and post-test counseling in the settings of carrier screening and prenatal diagnosis for SMA.

  2. Clinical utility of chromosomal microarray analysis in prenatal diagnosis: report of first 6 months in clinical practice.

    Science.gov (United States)

    Klugman, Susan; Suskin, Barrie; Spencer, Brianna L; Dar, Pe'er; Bajaj, Komal; Powers, Judith; Reichling, Julie; Wasserman, David; Dolan, Siobhan M; Merkatz, Irwin R

    2014-09-01

    We studied the clinical utility of chromosomal microarray analysis (CMA) in prenatal diagnosis in a clinical setting in New York City. Our center began offering CMA to pregnant women undergoing invasive diagnostic procedures for an abnormal structural finding on ultrasound, maternal age of 35 years or older, or elevated risk on aneuploidy screening, beginning March 2012. Our first six months experience is reported. Benign familial variants were the most common finding (16/22 fetuses). Variants of uncertain significance were frequent, especially when fathers were not available for testing (4/22 fetuses). Most patients undertook CMA as part of evaluation of an ultrasound anomaly (52%). One patient terminated a pregnancy based on an ultrasound finding in the setting of a benign familial variant on CMA, and a second terminated a pregnancy based on a copy number variant identified on CMA. For CMA to be maximally useful in prenatal diagnosis, parental DNA samples as well as robust datasets to provide predictive phenotypic information are required. The most common reason for undertaking CMA was to evaluate an ultrasound anomaly, and benign familial variants were a common finding. Genetic services are required to provide pre- and post-test genetic counseling and help families interpret results.

  3. Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester.

    Science.gov (United States)

    Bertucci, Emma; Mazza, Vincenzo; Lugli, Licia; Ferrari, Fabrizio; Stanghellini, Ilaria; Percesepe, Antonio

    2015-11-01

    Branchio-oto-renal syndrome combines branchial arch defects, hearing impairment and renal malformations or hypoplasia. Due to the high phenotypic variability, prenatal diagnosis has a limited prognostic value in mutation-positive cases. We report the first branchio-oto-renal syndrome molecular prenatal diagnosis and ultrasonographic follow-up, showing a normal renal growth until the 24th week of pregnancy, a growth deceleration during the third trimester and a renal volume recovery during the first months of life. © 2015 Japan Society of Obstetrics and Gynecology.

  4. Our children are not a diagnosis: the experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18.

    Science.gov (United States)

    Guon, Jennifer; Wilfond, Benjamin S; Farlow, Barbara; Brazg, Tracy; Janvier, Annie

    2014-02-01

    Trisomy 13 and trisomy 18 (T13-18) are associated with high rates of perinatal death and with severe disability among survivors. Prenatal diagnosis (PND) may lead many women to terminate their pregnancy but some women choose to continue their pregnancy. We sent 503 invitations to answer a questionnaire to parents who belong to T13 and 18 internet support groups. Using mixed methods, we asked parents about their prenatal experience, their hopes, the life of their affected child, and their family experience. 332 parents answered questions about 272 children; 128 experienced PND. These parents, despite feeling pressure to terminate (61%) and being told that their baby would likely die before birth (94%), chose to continue the pregnancy. Their reasons included: moral beliefs (68%), child-centered reasons (64%), religious beliefs (48%), parent-centered reasons (28%), and practical reasons (6%). At the time of the diagnosis, most of these parents (80%) hoped to meet their child alive. By the time of birth, 25% chose a plan of full interventions. A choice of interventions at birth was associated with fewer major anomalies (P < 0.05). Parents describe "Special" healthcare providers as those who gave balanced and personalized information, respected their choice, and provided support. Parents make decisions to continue a pregnancy and choose a plan of care for their child according to their beliefs and their child's specific medical condition, respectively. Insights from parents' perspective can better enable healthcare providers to counsel and support families.

  5. Cardiac Involvement in Sarcoidosis: Evolving Concepts in Diagnosis and Treatment

    Science.gov (United States)

    Lynch, Joseph P.; Hwang, Jennifer; Bradfield, Jason; Fishbein, Michael; Shivkumar, Kalyanam; Tung, Roderick

    2014-01-01

    Clinically evident sarcoidosis involving the heart has been noted in at least 2 to 7% of patients with sarcoidosis, but occult involvement is much higher (> 20%). Cardiac sarcoidosis is often not recognized antemortem, as sudden death may be the presenting feature. Cardiac involvement may occur at any point during the course of sarcoidosis and may occur in the absence of pulmonary or systemic involvement. Sarcoidosis can involve any part of the heart, with protean manifestations. Prognosis of cardiac sarcoidosis is related to extent and site(s) of involvement. Most deaths due to cardiac sarcoidosis are due to arrhythmias or conduction defects, but granulomatous infiltration of the myocardium may be lethal. The definitive diagnosis of isolated cardiac sarcoidosis is difficult. The yield of endomyocardial biopsies is low; treatment of cardiac sarcoidosis is often warranted even in the absence of histologic proof. Radionuclide scans are integral to the diagnosis. Currently, 18F-fluorodeoxyglucose positron emission tomography/computed tomography and gadolinium-enhanced magnetic resonance imaging scans are the key imaging modalities to diagnose cardiac sarcoidosis. The prognosis of cardiac sarcoidosis is variable, but mortality rates of untreated cardiac sarcoidosis are high. Although randomized therapeutic trials have not been done, corticosteroids (alone or combined with additional immunosuppressive medications) remain the mainstay of treatment. Because of the potential for sudden cardiac death, implantable cardioverter-defibrillators should be placed in any patient with cardiac sarcoidosis and serious ventricular arrhythmias or heart block, and should be considered for cardiomyopathy. Cardiac transplantation is a viable option for patients with end-stage cardiac sarcoidosis refractory to medical therapy. PMID:25007089

  6. The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome.

    Science.gov (United States)

    Mowery-Rushton, P A; Stadler, M P; Kochmar, S J; McPherson, E; Surti, U; Hogge, W A

    1997-03-01

    Pallister-Killian syndrome (tetrasomy 12p) is a relatively rare aneuploidy syndrome characterized by the presence of mosaicism for an isochromosome 12p [i(12p)]. We report two new cases diagnosed following chorionic villus sampling and an abnormal ultrasound, respectively. Fluorescent in situ hybridization (FISH) was used to enumerate the number of interphase cells containing the isochromosome. The results of these studies illustrate the importance of the use of interphase FISH to detect the presence of the i(12p) in uncultured, non-dividing cells. A review of the literature identified 23 additional cases of Pallister-Killian syndrome diagnosed prenatally. Approximately 50 per cent of these cases were associated with the presence of a congenital diaphragmatic hernia. We suggest that a perinatal-lethal form of Pallister-Killian syndrome is underdiagnosed and recommend that all cases of prenatally detected diaphragmatic hernia be tested for Pallister-Killian syndrome using interphase FISH on uncultured amniocytes.

  7. Morgagni hernia with massive pericardial effusion diagnosed in the second trimester: prenatal diagnosis and perinatal management.

    Science.gov (United States)

    Haino, Kazufumi; Serikawa, Takehiro; Itsukaichi, Mina; Numata, Masahiro; Kikuchi, Akira; Takakuwa, Koichi; Sakakibara, Seiichi; Hirayama, Yutaka; Tanaka, Kenichi

    2011-01-01

    Morgagni hernia is an extremely rare form of congenital diaphragmatic hernia. Only 6 cases of this condition have been reported in the English literature, as diagnosed prenatally. The prognosis of the disease is determined by the severity of the pulmonary hypoplasia and associated anomalies. Here we report a case of Morgagni hernia with massive pericardial effusion diagnosed by ultrasonography and MRI during the second trimester, enabling planning of appropriate treatment in the pre- and perinatal periods.

  8. Prenatal diagnosis of isolated interrupted inferior vena cava with azygos continuation to superior vena cava

    Directory of Open Access Journals (Sweden)

    Do Thi Cam Giang

    2014-01-01

    Full Text Available Absence of inferior vena cava is an uncommon congenital abnormality. It is usually associated with other structural anomalies, typically left isomerism. We report a case of interrupted inferior vena cava with azygos continuation diagnosed as an isolated finding during routine prenatal ultrasound scan, confirmed by post-natal echocardiography. Detailed ultrasound examination of the fetal anatomy failed to demonstrate other anomalies. The neonatal course of this fetus was uneventful.

  9. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2014-01-01

    . Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340/355) live born, 0.8% (3/355) fetal deaths, 3.4% (12/355) terminations of pregnancy for fetal anomaly and 1.5% (5/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly/anomalies associated with oculo...

  10. Protein and DNA analysis for the prenatal diagnosis of alpha2-laminin-deficient congenital muscular dystrophy.

    Science.gov (United States)

    Yamamoto, Lydia U; Gollop, Thomas R; Naccache, Nadyr F; Pavanello, Rita C M; Zanoteli, Edmar; Zatz, Mayana; Vainzof, Mariz

    2004-09-01

    Congenital muscular dystrophies (CMD) are characterized by neonatal hypotonia and/or artrogriposis associated with a dystrophic muscle biopsy. The CMD1A form is caused by a deficiency of the alpha2 chain of laminin 2 (LAMA2 gene at 6q2), a protein present in the basal lamina of muscle fibers, in Schwann cells, epidermis, and in fetal trophoblastic tissue. This allows its study for prenatal diagnosis in the chorionic villous (CV), which was performed in a family with one deceased affected CMD1A child. Immunohistochemical analysis of the CV using antibodies against the C- and N-terminal domains of the alpha2-laminin protein showed a normal positive labeling for both antibodies in the "at-risk" CV, which did not differ from the normal control CV. The integrity of the CV membrane was confirmed through the analysis with antibodies against alpha1, beta1, and gamma1 laminins. DNA study using markers flanking the 6q2 region showed that the affected patient and the "at-risk" fetus did not share the same haplotype. Therefore, the fetus was considered normal through both methodologies, which was confirmed after the birth of a clinically normal male baby. As the LAMA2 gene is very large and the spectrum of mutations causing disease is wide, the analysis of the protein in muscle biopsy has been largely used for the diagnosis. Besides, the possibility to detect it in the chorionic villous, mainly using positive markers, also offers a powerful tool for prenatal diagnosis.

  11. Revised estimates of the risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18.

    Science.gov (United States)

    Cavadino, Alana; Morris, Joan K

    2017-04-01

    Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13) both have high natural fetal loss rates. The aim of this study was to provide estimates of these fetal loss rates by single gestational week of age using data from the National Down Syndrome Cytogenetic Register. Data from all pregnancies with Edwards or Patau syndrome that were prenatally detected in England and Wales from 2004 to 2014 was analyzed using Kaplan-Meier survival estimates. Pregnancies were entered into the analysis at the time of gestation at diagnosis, and were considered "under observation" until the gestation at outcome. There were 4088 prenatal diagnoses of trisomy 18 and 1471 of trisomy 13 in the analysis. For trisomy 18, 30% (95%CI: 25-34%) of viable fetuses at 12 weeks will result in a live birth and at 39 weeks gestation 67% (60-73%) will result in a live birth. For trisomy 13 the survival is 50% (41-58%) at 12 weeks and 84% (73-90%) at 39 weeks. There was no significant difference in survival between males and females when diagnosed at 12 weeks for trisomy 18 (P-value = 0.27) or trisomy 13 (P-value = 0.47). This paper provides the most precise gestational age-specific estimates currently available for the risk of fetal loss in trisomy 13 and trisomy 18 pregnancies in a general population. © 2017 Wiley Periodicals, Inc.

  12. [Current indications for invasive prenatal diagnosis. New proposals based on the experience of Institute Nacional de Perinatología].

    Science.gov (United States)

    Fernández-Hernández, Liliana; Domínguez-Castro, Mauricio; Ibañez-Salvador, Juan Carlos; Grether-González, Patricia; Aguinaga-Ríos, Mónica

    2013-08-01

    Invasive prenatal diagnosis (IPD) allows identification of fetal diseases, mainly aneuploidy. With the addition of first-trimester prenatal screening and structural ultrasound, IPD indications have changed. To describe the current indications for IPD in pregnant patients at INPer. Descriptive and retrospective study. We reviewed medical records of patients in which IPD was performed during a period of 2.5 years. A total of 339 studies were performed: 81% by amniocentesis (AC), 13% by chorionic villus sampling (CVS) and 6% by cordocentesis or somatocentesis. The most common indications for AC were: advanced maternal age (AMA) (43%), fetuses with multiple defects by ultrasonido (23%) and presence of soft markers for aneuploidies (9%). For CVS were: cystic hygroma (24%). Increased nuchal translucency (NT) (24%), and AMA (18%). When the indication was only AMA, 1.5% of fetus presented aneuploidy. In women under 38 years and normal ultrasoud, chromosomal abnormalities were not detected. The increased NT in women 35 years it increased to 33%. We observed that the group who had normal translucencia nucal and AMA presented a low risk of chromosomal abnormalities. In the presence of an increased NT, 33% of fetuses were affected, so that measuring TN is considered the best non invasive PD tool. The average age with cytogenetic abnormalities was above 38 years, so we suggest to offer IPD in women above 38 years-old.

  13. Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review. European Concerted Action: DADA (Decision-making After the Diagnosis of a fetal Abnormality).

    Science.gov (United States)

    Mansfield, C; Hopfer, S; Marteau, T M

    1999-09-01

    The aims of this systematic literature review are to estimate termination rates after prenatal diagnosis of one of five conditions: Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes, and to determine the extent to which rates vary across conditions and with year of publication. Papers were included if they reported (i) numbers of prenatally diagnosed conditions that were terminated, (ii) at least five cases diagnosed with one of the five specified conditions, and (iii) were published between 1980 and 1998. 20 papers were found which met the inclusion criteria. Termination rates varied across conditions. They were highest following a prenatal diagnosis of Down syndrome (92 per cent; CI: 91 per cent to 93 per cent) and lowest following diagnosis of Klinefelter syndrome (58 per cent; CI: 50 per cent to 66 per cent). Where comparisons could be made, termination rates were similar in the 1990s to those reported in the 1980s.

  14. Trends in live birth prevalence of Down syndrome in the Northern Netherlands 1987-96 : the impact of screening and prenatal diagnosis

    NARCIS (Netherlands)

    Wortelboer, MJM; de Wolf, BTHM; Verschuuren-Bemelmans, CC; Reefhuis, J; Mantingh, A; Beekhuis, [No Value; Cornel, MC

    2000-01-01

    In the Northern Netherlands, we examined the live birth prevalence of Down syndrome (DS) and the impact of maternal serum screening (MSS) and prenatal cytogenetic diagnosis (PCD) during the period 1987-96. In this period the live birth prevalence, based on the maternal age distribution and the age s

  15. Interobserver agreement in detailed prenatal diagnosis of congenital heart disease by telemedicine using four-dimensional ultrasound with spatiotemporal image correlation

    NARCIS (Netherlands)

    Adriaanse, B.M.; Tromp, C.H.; Simpson, J.M.; Mieghem, T. van; Kist, W.J.; Kuik, D.J.; Oepkes, D.; Vugt, J.M. van; Haak, M.C.

    2012-01-01

    OBJECTIVE: To evaluate the clinical accuracy of four-dimensional (4D) echocardiography in the detailed prenatal diagnosis of congenital heart disease (CHD) in a telemedicine setting. METHODS: Ten second-trimester spatiotemporal image correlation (STIC) volumes were sent to three observers in differe

  16. Trends in live birth prevalence of Down syndrome in the Northern Netherlands 1987-96 : the impact of screening and prenatal diagnosis

    NARCIS (Netherlands)

    Wortelboer, MJM; de Wolf, BTHM; Verschuuren-Bemelmans, CC; Reefhuis, J; Mantingh, A; Beekhuis, [No Value; Cornel, MC

    2000-01-01

    In the Northern Netherlands, we examined the live birth prevalence of Down syndrome (DS) and the impact of maternal serum screening (MSS) and prenatal cytogenetic diagnosis (PCD) during the period 1987-96. In this period the live birth prevalence, based on the maternal age distribution and the age s

  17. Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant women

    Institute of Scientific and Technical Information of China (English)

    ZHANG Lin; ZHANG Xiao-hong; LIANG Mei-ying; REN Mei-hong

    2010-01-01

    Background Prenatal diagnoses are extremely advantageous for pregnant women with high-risk indicators and can help prevent the birth of malformed infants. However, no large-scale statistical study analyzing the correlation between fetal chromosome disorders and abnormal indicators during pregnancy has been done in China. The objectives of this study were to diagnose and analyze fetal chromosome abnormalities, determine the feasibility of the various prenatal test methods and establish diagnostic guidelines for the early, middle, and late trimesters.Methods From January 2004 to May 2009, 2782 pregnant women at high-risk underwent prenatal diagnoses. Categorized data expressed as either actual counts or percentages were analyzed by the chi-square or Fisher's exact test. Chorionic villus sampling was performed in the early-trimester (10-12 weeks of gestation), amniocentesis in mid-trimester (16-28 weeks of gestation), and umbilical cord blood collection in mid- or late-trimester (16-37 weeks of gestation). In 51 cases either autopsy samples from intrauterine fetal deaths or placental tissues from aborted fetuses were tested.Results Chromosomal abnormalities were observed in 3.99% (111/2782) of the samples. Overall, the success rate of cytogenetic analysis for high-risk pregnancy groups was 98.17% (2731/2782). It was significantly less successful when used to analyze data from the chorionic villus sampling compared with that from amniocentesis and umbilical cord blood (P=0.000). Abnormal chromosome carriers had the highest percentage of abnormal chromosomes (67.86%) when compared with chromosomal abnormalities in patients with ultra-sonographic "soft markers" (11.81%), advanced maternal age (4.51%) and those who had positive serum screening results (P=0.000).Conclusions Invasive prenatal diagnostic techniques are feasible tools for confirming fetal chromosomal abnormalities. Abnormal chromosomes detected in one of the parents carrying abnormal chromosome, ultrasound

  18. Prenatal Diagnosis and Management for Congenital Intrapericardial Diaphragmatic Hernia with Massive Cardiac Effusion: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Ching-Chang Hsieh

    2015-03-01

    Full Text Available Congenital intrapericardial diaphragmatic hernia with massive pericardial effusion is a rare type of Morgagni hernia. Since 1980, there have been only 16 reported cases. We report on the imaging features of such a case that was diagnosed in utero. The prognosis of congenital intrapericardial diaphragmatic hernia is better than the other types of congenital diaphragmatic hernia, but lung hypoplasia due to compression by the pericardial effusion is not uncommon. Early intervention and treatment should be given to improve the perinatal outcome once the prenatal diagnosis has been made. We have summarized current diagnostic methods and management for this rare phenotype, after reviewing previous case reports and articles relating to the intervention for congenital diaphragmatic hernia.

  19. Prenatal diagnosis of spinocerebellar ataxia type 3/Machado-Joseph disease in mainland China A case report

    Institute of Scientific and Technical Information of China (English)

    Lifang Lei; Kun Xia; Beisha Tang; Junling Wang; Shen Zhang; Hong Jiang; Lu Shen; Qian Xu; Xinxiang Yan; Yi Yuan; Qian Pan

    2011-01-01

    Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a progressive, currently untreatable and ultimately fatal ataxic disorder that belongs to the group of neurological disorders known as CAG-repeat or polyglutamine diseases. Here, we present the first prenatal diagnosis of SCA3/MJD in mainland China in a woman who was known to carry an expanded CAG-trinucleotide repeat in the MJD1 gene. After evaluating motivation and psychological tolerance of the couple, amniocentesis was performed after 14 weeks of gestation. Polymerase chain reactions followed by T-vector cloning and direct sequencing were employed to evaluate the CAG-repeat number of the fetal MJD1 gene. We identified a truncated CAG expansion of 78 repeats in the MJD1 gene of the fetus compared with 81 repeats in his mother.

  20. 胎儿肺发育不良的产前诊断%Prenatal diagnosis of fetal pulmonary hypoplasia

    Institute of Scientific and Technical Information of China (English)

    陈骊珠; 蔡爱露; 王冰; 杨泽宇

    2009-01-01

    肺发育不良可在胎儿出生后立即引发严重的呼吸窘迫,甚至造成新生儿死亡.本文就肺发育不良的发病原因、临床、超声影像学和病理学特点,对国内外近年产前诊断肺发育不良的各种方法进行综述.%Pulmonary hypoplasia (PH) may lead to severe respiratory distress immediately after birth,even neonatal death. The etiological factors, clinical, ultrasonic and pathologic characteristics of PH and the proposed methods for the prenatal diagnosis were reviewed in this article.

  1. Feasibility of applying the new improved PCR/LDR/capillary electrophoresis on prenatal diagnosis of fetal beta thalassaemia

    Directory of Open Access Journals (Sweden)

    Xi LIAO

    2014-03-01

    Full Text Available Objective  To investigate the feasibility of applying new improved polymerase chain reaction (PCR/ligase detection reaction (LDR/capillary electrophoresis to the prenatal diagnosis of fetal β thalassemia from maternal plasma. Methods  The mixture of different concentrations of normal DNA and trace β-thalassemia mutation heterozygous DNA were used for PCR, and the amplification products obtained thereafter were used for LDR. The ligation product was detected by capillary electrophoresis to demonstrate the sensitivity. Results  The amplification products containing same concentration of CD17 (A→T mutation were used as LDR template, 8U DNA ligase reaction was performed. LDR products were analyzed by genetic analyzer CEQ8000 type electrophoresis with a detection sensitivity of 1:5000. Product peak area decreased with the increase of normal peripheral blood DNA concentration gradient. When the concentration reached to 1:10 000, it would be hard to distinguish the product peak and miscellaneous peak. The LDR product was not detected in the product of negative control without CD17 (A→T mutation. The LDR results of normal maternal plasma DNA added 20pg CD17 (A→T heterozygous mutation in peripheral blood DNA amplification products revealed that the product peaks could be clearly distinguished from miscellaneous peaks. Conclusion  The new improved PCR/LDR/capillary electrophoresis technology is expected to be used in plasma DNA tests to prenatal diagnosis of fetal beta thalassaemia in pregnant women. DOI: 10.11855/j.issn.0577-7402.2014.03.06

  2. Using Patient-Centered Care After a Prenatal Diagnosis of Trisomy 18 or Trisomy 13: A Review.

    Science.gov (United States)

    Haug, Shelly; Goldstein, Mitchell; Cummins, Denise; Fayard, Elba; Merritt, T Allen

    2017-04-01

    Patient-centered care (PCC) has been advocated by the Institute of Medicine to improve health care in the United States. Four concepts of PCC align with clinical ethics principles and are associated with enhanced patient/parent satisfaction. These concepts are dignity and respect, information sharing, participation, and collaboration. The objective of this article is to use the PCC approach as a framework for an extensive literature review evaluating the current status of counseling regarding prenatal diagnosis of trisomy 18 (T18) or trisomy 13 (T13) and to advocate PCC in the care of these infants. Extensive availability of prenatal screening and diagnostic testing has led to increased detection of chromosomal anomalies early in pregnancy. After diagnosis of T18 or T13, counseling and care have traditionally been based on assumptions that these aneuploidies are lethal or associated with poor quality of life, a view that is now being challenged. Recent evidence suggests that there is variability in outcomes that may be improved by postnatal interventions, and that quality-of-life assumptions are subjective. Parental advocacy for their infant's best interest mimics this variability as requests for resuscitation, neonatal intensive care, and surgical intervention are becoming more frequent. With new knowledge and increased parental advocacy, physicians face ethical decisions in formulating recommendations including interruption vs continuation of pregnancy, interventions to prolong life, and choices to offer medical or surgical procedures. We advocate a PCC approach, which has the potential to reduce harm when inadequate care and counseling strategies create conflicting values and uncertain outcomes between parents and caregivers in the treatment of infants with T18 and T13.

  3. Multiplex ligation dependent probe amplification (MLPA for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Hamers Guus

    2011-01-01

    Full Text Available Abstract Background Small supernumerary marker chromosomes (sSMC are extra structurally abnormal chromosomes that cannot be unambiguously identified with conventional chromosome banding techniques. These marker chromosomes may cause an abnormal phenotype or be harmless depending on different factors such as genetic content, chromosomal origin and level of mosaicism. When a sSMC is found during prenatal diagnosis, the main question is whether the sSMC contains euchromatin since in most cases this will lead to phenotypic abnormalities. We present the use of Multiplex Ligation Dependent probe Amplification (MLPA for rapid distinction between non-euchromatic and euchromatic sSMC. Results 29 well-defined sSMC found during prenatal diagnosis were retrospectively investigated with MLPA with the SALSA MLPA centromere kits P181 and P182 as well as with the SALSA MLPA telomere kits P036B and P070 (MRC Holland BV, Amsterdam, The Netherlands. All unique-sequence positive sSMC were correctly identified with MLPA, whereas the unique-sequence negative sSMC had normal MLPA results. Conclusions Although different techniques exist for identification of sSMC, we show that MLPA is a valuable adjunctive tool for rapidly distinguishing between unique-sequence positive and negative sSMC. In case of positive MLPA results, genetic microarray analysis or, if not available, targeted FISH can be applied for further identification and determination of the exact breakpoints, which is important for prediction of the fetal phenotype. In case of a negative MLPA result, which means that the sSMC most probably does not contain genes, the parents can already be reassured and parental karyotyping can be initiated to assess the heritability. In the mean time, FISH techniques are needed for determination of the chromosomal origin.

  4. Enrichment of Fetal Nucleated Red Blood Cells by Multi-core Magnetic Composite Particles for Non-invasive Prenatal Diagnosis

    Institute of Scientific and Technical Information of China (English)

    PAN Ying; ZHANG Ai-chen; WANG Qing; HUANG Wen-jun; QIAO Feng-li; LIU Yu-ping; ZHANG Yu-cheng; HAl De-yang; DU Ying-ting; WANG Wen-yue

    2012-01-01

    A novel kind of multi-core magnetic composite particles,the surfaces of which were respectively modified with goat-anti-mouse IgG and antitransferrin receptor(anti-CD71 ),was prepared.The fetal nucleated red blood cells(FNRBCs) in the peripheral blood of a gravida were rapidly and effectively enriched and separated by the modified multi-core magnetic composite particles in an external magnetic field.The obtained FNRBCs were used for the identification of the fetal sex by means of fluorescence in situ hybridization(FISH) technique.The results demonstrate that the multi-core magnetic composite particles meet the requirements for the enrichment and speration of FNRBCs with a low concentration and the accuracy of detetion for the diagnosis of fetal sex reached to 95%.Moreover,the obtained FNRBCs were applied to the non-invasive diagnosis of Down syndrome and chromosome 3p21 was detected.The above facts indicate that the novel multi-core magnetic composite particles-based method is simple,reliable and cost-effective and has opened up vast vistas for the potential application in clinic non-invasive prenatal diagnosis.

  5. Prenatal Diagnosis and Postnatal Ultrasound Findings of Cloacal Anomaly: A Case Report

    Directory of Open Access Journals (Sweden)

    Lívia Teresa Moreira Rios

    2012-01-01

    Full Text Available Cloacal malformation is an extremely rare fetal pathological condition that presents as a variety of defects. It predominantly affects females, with prevalence of 1 in 50,000 births. Prenatal ultrasonography on a 20-year-old caucasian woman (G4P1A2 at 33 weeks of pregnancy showed the fetus having a large cystic mass in the lower abdomen with a single septum, bilateral hydronephrosis, ambiguous genitalia, and a single umbilical artery. The pregnancy developed accentuated oligohydramnios, and presence of a fetal brain-sparing effect was diagnosed using arterial Doppler velocimetry. The newborn showed abdominal distension, ambiguous genitalia, and rectal atresia, with a single perineal opening. Pelvic ultrasound done on the first day after delivery revealed the presence of a large retrovesical septated cystic mass of dense content in the fetal abdomen, and bilateral hydronephrosis. Hysterotomy was performed, and 70 mL of dense liquid was drained through an abdominal colostomy. The infant died on the 27th day of life as a result of infectious complications. Prenatal diagnosing of female urogenital anomalies is usually difficult because of their rarity, different types of manifestation, and lack of characteristic ultrasound signs. Presence of a septated cyst with dense content in the fetal abdomen confirms the finding of hydrometrocolpos, thus raising clinical suspicion of a cloacal anomaly.

  6. Genetic Counseling and Prenatal Diagnosis of Triploidy During the Second Trimester of Pregnancy

    Science.gov (United States)

    Kolarski, Milenko; Ahmetovic, Begzudin; Beres, Maja; Topic, Radomir; Nikic, Vedran; Kavecan, Ivana; Sabic, Semin

    2017-01-01

    Introduction: Triploidy is a lethal chromosomal numeric abnormality, characterized on extra haploid set of chromosomes. It occurs in 2 to 3% of conceptuses and accounts for approximately 20% of chromosomally abnormal first-trimester miscarriages. As such, triploidy is estimated to occur in 1 of 3,500 pregnancies at 12 weeks’, 1 in 30,000 at 16 weeks’, and 1 in 250,000 at 20 weeks’ gestation. Case report: We present a case of second-trimester triploidy diagnosed prenataly at our center. 28-years-old gravida with a first spontaneous pregnancy had early gestational hypertension. Ultrasound examination in 146/7 weeks’ gestation revealed asymmetric intrauterine growth retardation. We recommended biochemical maternal serum screening during second trimester of pregnancy (AFP, HCG, uE3). Result of biochemical screening was indication for cytogenetic analysis from amniotic fluid cells and we recommended early amniocentesis in 156/7 weeks’ gestation. Result showed abnormal karyotype of the fetus (69,XXX triploidy), and DNA analysis confirmed Type-2 Diginy. Parents decided to terminate this pregnancy, and it was done at 22 weeks’ gestation. Conclusion: We emphasize the importance of non-invasive prenatal exminationes-biochemical serum screening during second trimester of pregnancy, and ultrasound examinations in prenatal screening of syndroma Down and other chromosomal abnormalities. PMID:28790549

  7. Prenatal diagnosis and postpartal therapy of fetal obstructions related to the urinary tract.

    Science.gov (United States)

    Meyer-Schwickerath, M; Bedow, W; Rascher, W

    1990-01-01

    114 fetal malformations were diagnosed by ultrasound in the years 1983-1987 at our institute. 32 of these malformations involved the urinary tract. Fetuses with multicystic dysplasic kidneys and oligohydramnios have only a poor prognosis. In obstructive uropathy, however, exact antenatal diagnosis makes early leads to specific postpartal urological therapy. Modern ultrasound equipment makes it possible to localize the site of obstruction and/or dilatation in fetuses. The amount of amnion fluid indicates the degree of obstruction and is an important factor the postpartal prognosis of the children. Relieve of obstruction should be the first step of urological therapy directly after birth. We prefer to perform reconstructive surgery as soon as possible in the first 2 to 3 weeks of life. In children with subpelvic stenosis pyeloplasty is performed in the first weeks of life. Our results of 13 pyeloplasties in newborn are favourable. In children with megaureters dynamic scintigraphy or pressure flow studies (Whitaker test) are performed to diagnose or to exclude obstruction as a cause of dilatation (n = 14). In case of obstruction we perform an ureterocutaneostomy (Ring- or Sober procedure) immediately. Urethral valves causing subvesical obstruction could be treated by transvesical antegrade valve ablation, performed in 9 newborn with good success.

  8. The California Prenatal Screening Program: "options and choices" not "coercion and eugenics".

    Science.gov (United States)

    Flessel, Monica C; Lorey, Fred W

    2011-08-01

    The California Prenatal Screening Program is designed to make prenatal screening available to the state's large and diverse population. The Program provides information to women which will allow them to make informed choices regarding prenatal screening and prenatal diagnosis. Since the Program's inception in 1986, women in California have had the option to participate in prenatal screening or to decline prenatal screening. The California Program offers prenatal diagnostic services to women whose screening tests indicate an increased risk for birth defects, including Down syndrome. Women can decline any or all of these follow-up services. Genetic counseling, diagnostic services, and the presentation of diagnostic results are performed by medical professionals (not State staff) who follow established guidelines for nondirective counseling. Program data clearly demonstrate that women in California have a wide range of options and make a wide range of choices regarding prenatal screening and prenatal diagnosis. California's comprehensive Prenatal Screening Program promotes optimal care for all women within all options and choices. The important and necessary communication among organizations and stakeholders involved in prenatal screening and diagnosis, and in related care for pregnant women and for people with Down syndrome, is not served by misrepresentation and inflammatory rhetoric.

  9. Prenatal Diagnosis of Single-Gene Defects%单基因病的产前诊断研究进展

    Institute of Scientific and Technical Information of China (English)

    严恺; 金帆

    2013-01-01

    单基因病是导致新生儿出生缺陷的主要原因之一,大多数单基因病患者预后不佳。对于有单基因病患儿出生史的家系,在先证者致病基因及突变类型明确的基础上,可通过产前诊断防止患儿的出生。目前,单基因病的产前诊断可分为植入前遗传学诊断(PGD)和妊娠期产前诊断。传统的产前诊断通过有创手术获取胎儿源性标本,准确性高,但具有一定程度的流产风险。PGD和无创产前诊断(NIPD)作为新的产前诊断方式,在一定程度上可作为传统方式的补充。综述单基因病产前诊断技术的研究进展及遗传咨询的重要意义,为临床实践产前诊断的方案制定提供一定的思路。%Single-gene defects, which has the unfavorable prognosis, is the main cause of the newborn's defect. Couples can prevent birth of child carrying the same genetic disorder with the proband. Currently, the prenatal diagnosis contains preimplantation genetic diagnosis and trimester prenatal diagnosis. Traditional invasive prenatal diagnosis acquire specimens from fetal relying on surgery. It is accurate, but with a certain risk of miscarriage. The new method of prenatal diagnosis (such as preimplantation genetic diagnosis and non-invasive prenatal diagnosis) and the traditional way are complementary to one another. In this review, we discuss the progress of prenatal diagnosis of Single-gene defects and the significance of genetic counseling in order to provide some ideas in clinical practice.

  10. Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2016-04-01

    Conclusion: Fetuses with 15q14 microdeletion may present TOF on the second-trimester ultrasound. aCGH and metaphase FISH are useful for rapid prenatal diagnosis of 15q14 microdeletion associated with TOF. A prenatal diagnosis of TOF should include a differential diagnosis of 15q14 microdeletion in addition to 22q11.2 deletion syndrome and other microdeletion syndromes.

  11. Prenatal Diagnosis in a Family of TNFRSF11A (RANK Gene Mutation Detection: A Case Report

    Directory of Open Access Journals (Sweden)

    Mutlu Karkucak

    2014-08-01

    Full Text Available Autosomal recessive osteoporosis (ARO is a severe disease causing death usually at infancy or childhood. RANKL coded by TNFSF11 gene and RANK coded by TNFRSF11A gene are important proteins for osteoclast maturation and it is indicated that mutation on these genes plays an important role for ARO development. It is reported in this article that c.508 A→G homozygote mutation (pArg170Gly is observed in TNFRSF11A gene of 2 children of consanguineous couple. Mutation analysis performed on CVS material during the next pregnancy revealed heterozygous mutation in the fetus. The pregnancy was continued to term and a healthy boy was delivered. Prenatal mutation analysis is important for diseases with known mutations to relieve parental anxiety and provide genetic counselling for the family.

  12. The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis

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    Elisavet A. Papageorgiou

    2014-04-01

    Full Text Available Epigenetic modifications have proven to play a significant role in cancer development, as well as fetal development. Taking advantage of the knowledge acquired during the last decade, great interest has been shown worldwide in deciphering the fetal epigenome towards the development of methylation-based non-invasive prenatal tests (NIPT. In this review, we highlight the different approaches implemented, such as sodium bisulfite conversion, restriction enzyme digestion and methylated DNA immunoprecipitation, for the identification of differentially methylated regions (DMRs between free fetal DNA found in maternal blood and DNA from maternal blood cells. Furthermore, we evaluate the use of selected DMRs identified towards the development of NIPT for fetal chromosomal aneuploidies. In addition, we perform a comparison analysis, evaluate the performance of each assay and provide a comprehensive discussion on the potential use of different methylation-based technologies in retrieving the fetal methylome, with the aim of further expanding the development of NIPT assays.

  13. Prenatal Genetic Diagnosis in 481 Amniocentesis, Chorion Villi Sample and Cordocentesis Specimens

    Directory of Open Access Journals (Sweden)

    Turgay Budak

    2007-01-01

    Full Text Available In this study, we evaluated a total of 481 amniocentesis , cordocentesis and corion villi sample specimens from patients who were referred to the Prenatal Diagnostic Laboratory of Department of Medical Biology and Genetics Department of Medical Faculty of University of Dicle, between 1999 and 2001. A total of 24 specimens were found cytogenetically abnormal, of which 11 were trisomy 21 ( Down Syndrome, two were Down Syndrome with Robertsonian type of translocation between chromosome 14 and 21, one was mosaic Down Syndrome , one was balanced translocated chromosome carrier, two were Turner Syndrome, one was triple X syndrome, two were triploidy, one was partial trisomy 3, one was derivative chromosome, one was nonrepetitive numerical and structural abnormality, and one was marker chromosome. Unfortunately, we could not have results in 15 of culture samples. There were no false positive and false negative results.

  14. Prenatal diagnosis of meconium ileus and meconium peritonitis: Indications for cystic fibrosis testing

    Directory of Open Access Journals (Sweden)

    Egić Amira

    2011-01-01

    Full Text Available Introduction. More recently, the regions of increased abdominal echogenicity such as echogenic bowel, meconium ileus and meconium peritonitis have been associated with an increased prevalence of a variety of unfavourable outcomes including chromosomal abnormalities, cytomegalovirus infection, intestinal obstruction, anorectal malformations and cystic fibrosis. Earlier prenatal examinations of these severe autosomal recessive diseases had been suggested only to families with history of cystic fibrosis. Recently, systemic examination has been introduced by ultrasound with bowel hyperechogenicity where the fetus is the index case for genetic disease. Risk for cystic fibrosis with this ultrasonography findings ranges from 0-33%. Outline of Cases. Two patients are presented, aged 24 and 29 years, both primigravide. The first one had ultrasonography finding of meconium peritonitis revealed at the 37th week of gestation and the other meconium ileus revealed on ultrasonography at the 29th week of gestation. Both patients had prenatal testing of foetal blood obtained by cordocenthesis, both had normal kariotype and were negative for cytomegalovirus infection. Parental DNA testing for the 2nd patient showed that parents were not carriers for the 29 most frequent mutations. Both neonates had intestinal obstruction, underwent surgery and early postoperative course was normal. Hystopathological finding suggested a possibility of cystic fibrosis for the 1st patient, but parents did not want to be tested and for the 2nd one congenital bowel stenosis as a cause of intestinal obstruction. Conclusion. Ultrasonographic echogenic bowel is an indication for invasive procedures for foetal blood testing for chromosomal abnormalities, congenital infections and parental testing for cystic fibrosis. Only if parental heterozygosity is proven foetus should be tested.

  15. 45,X/46,XY mosaicism: the role of ultrasound in prenatal diagnosis and counselling.

    Science.gov (United States)

    Lazebnik, N; Filkins, K A; Jackson, C L; Linn, K B; Doshi, N N; Hogge, W A

    1996-11-01

    The purpose of this study was to assess the benefit of ultrasound evaluation for fetuses with prenatally diagnosed 45,X/46,XY mosaicism. The charts of all patients who underwent chorionic villus sampling and/or amniocentesis between 1 March 1990 and 31 October 1995 were screened for 45,X/46,XY mosaicism. Cases were divided on the basis of the results of the confirmatory amniocentesis into two groups: (1) confined placental mosaicism (n = 4); and (2) true fetal 45,X/46,XY mosaicism (n = 4). All patients underwent high-resolution detailed ultrasound study between 16 and 22 weeks. If the initial ultrasound study failed to visualize fetal genitalia, scanning was repeated in 2 weeks. Chromosome analysis was carried out on the newborn's skin to confirm the prenatal result. Six cases were found to have 45,X/46,XY mosaicism on chorionic villus sampling. Amniocentesis indicated a normal 46,XY male karyotype for three fetuses and true fetal 45,X/46,XY mosaicism for two cases. One patient declined follow-up amniocentesis. At birth, this newborn was documented to have normal male genitalia and a 46,XY karyotype. An additional two cases underwent amniocentesis only and were documented to have 45,X/46,XY mosaicism. High-resolution detailed ultrasound study between 16 and 22 weeks revealed seven fetuses with normal male genitalia and one fetus with ambiguous genitalia. Of the four neonates with true 45,X/46,XY mosaicism this was the only one found to have ambiguous genitalia. We conclude that the work-up of patients with 45,X/46,XY mosaicism should include ultrasound study to look for ambiguous genitalia. This allows appropriate counselling regarding the natural history of the condition and aids in the planning for management in the postnatal period.

  16. Prenatal diagnosis of methylmalonic aciduria by measuring methylmalonic acid in dried amniotic fluid on filter paper using gas chromatography-mass spectrometry.

    Science.gov (United States)

    Inoue, Yoshito; Ohse, Morimasa

    2011-06-01

    Methylmalonic aciduria is a common inherited metabolic disorder. Methylmalonic acid (MMA), a key indicator of methylmalonic aciduria, increases in the amniotic fluid of affected fetuses. For prenatal diagnosis, the MMA in amniotic fluid can be measured by stable-isotope dilution gas chromatography-mass spectrometry. Here, we quantified the MMA in cell-free amniotic fluid samples that had been dried on filter paper and transported at ambient temperatures, and compared the results with data obtained from the original amniotic fluid. Our results indicated that the filter paper method was reproducible and accurate enough to be applied to clinical analysis. We also used the filter paper method to screen at-risk fetuses and obtained a clear diagnosis in each case. We conclude that our method enables the prenatal diagnosis of methylmalonic aciduria using practical procedures and a simplified method for transporting the samples.

  17. Prenatal diagnosis and outcome of absent pulmonary valve syndrome: contemporary single-center experience and review of the literature.

    Science.gov (United States)

    Wertaschnigg, D; Jaeggi, M; Chitayat, D; Shannon, P; Ryan, G; Thompson, M; Yoo, S J; Jaeggi, E

    2013-02-01

    To review the anomaly spectrum of prenatally detected absent pulmonary valve syndrome (APVS) and the outcome after diagnosis. Previous fetal studies reported survival rates of ≤ 25% for patients with intended postnatal care. Clinical data and echocardiograms of 12 cases with a fetal diagnosis of APVS between 2000 and 2010 were analyzed in this retrospective single-center study. Collected parameters included: gestational age at referral, associated fetal abnormalities, cardiothoracic ratio, maximum diameters of pulmonary annulus and main and branch pulmonary arteries, ventricular dimensions and function as well as ventricular Doppler flows. Karyotyping included fluorescence in-situ hybridization (FISH) analysis for microdeletion 22q11.2. Median gestational age at diagnosis was 24 weeks. Three subtypes of APVS were observed: (1) with tetralogy of Fallot (TOF) and no arterial duct (n = 10; 83%); (2) isolated, with a large arterial duct (n = 1; 8%); and (3) with tricuspid atresia, right ventricular dysplasia and a restricted duct (n = 1; 8%). The cardiothoracic ratio and pulmonary artery dimensions were increased in all cases. The karyotype was abnormal in 70% of fetuses with TOF and their mortality rate was significantly higher due to pregnancy termination (n = 3) or perinatal demise (n = 2) (hazard ratio, 5; 95% CI, 0.87-28.9; P = 0.015). Of seven live births with active postnatal care, six children (86%) were alive without residual respiratory symptoms at a median follow-up of 4.7 (range, 2.1-10.6) years. Outcome after fetal diagnosis of APVS was significantly better in this study compared with those of previous fetal series, with a low mortality rate for actively managed patients. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.

  18. Advances in Gene Diagnosis and Prenatal Diagnosis of Hemophilia A%甲型血友病基因诊断及产前诊断的研究进展

    Institute of Scientific and Technical Information of China (English)

    陈淑芬; 蒋玮莹

    2009-01-01

    Hemophilia A is the most common hereditary hemorrhagic disease, which attracts great at-tention. Because we lack of effective curing methods for this disease, gene diagnosis and prenatal diagnosis ofhemophilia A become extremely important. The gene diagnosis includes direct gene diagnosis and indirect link-age analysis. The techniques of prenatal diagnosis for the disease have developed rapidly in resent years. Wereview the update on the gene diagnosis and prenatal diagnosis for Hemophilia A.%甲型血友病是最常见的遗传性出血性疾病,受到了国内外研究者们的极大关注.由于此病尚无彻底根治方法,所以基因诊断及产前诊断显得尤为重要.基因诊断可分为直接基因诊断及间接连锁分析的方法;产前诊断的手段也在近年飞速发展.本文就直接基因诊断、间接连锁分析及产前诊断新技术这几方面的研究进展综述如下.

  19. Prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes.

    Science.gov (United States)

    Chen, Chih-Ping; Wang, Yeou-Lih; Chern, Schu-Rern; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Shin-Wen; Chen, Li-Feng; Lee, Meng-Shan; Yang, Chien-Wen; Wang, Wayseen

    2016-04-01

    We present a prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes. A 35-year-old woman presented with a borderline-positive result of noninvasive prenatal testing for trisomy 21. She underwent amniocentesis at 18 weeks of gestation, which revealed a karyotype of 47,XY,+21(5)/46,XY(53). Repeat amniocentesis at 22 weeks of gestation revealed a karyotype of 47,XY,+21(6)/46,XY(26). Array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes revealed mosaic levels of 10% to 15% for trisomy 21. Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed a mosaic level of 21.7% (28/129 cells) for trisomy 21. Following genetic counseling and detailed ultrasound examination, the parents decided to continue the pregnancy. The pregnancy was carried to term, and a normal 3664-g male baby was delivered. The cord blood lymphocytes had a karyotype of 47,XY,+21(2)/46,XY(38). Postnatal interphase FISH analysis of urine detected no trisomy 21 in all 39/39 urinary cells. The neonate was phenotypically normal at age 7 months. Low-level true mosaicism for trisomy 21 can be associated with a favorable fetal outcome. aCGH and interphase FISH analyses on uncultured amniocytes are useful for rapid confirmation of low-level true mosaicism for trisomy 21 at repeated amniocentesis. Copyright © 2016. Published by Elsevier B.V.

  20. Development of new technological applications for post- and prenatal diagnosis of the hemoglobinopathies

    NARCIS (Netherlands)

    Phylipsen, Marion

    2013-01-01

    Hemoglobinopathies (HbP) are recessive hereditary disorders of hemoglobin, characterized by microcytic hypochromic anemia. HbP diagnostics encompasses three specialties: hematological, biochemical and molecular testing. Results of all tests together form the complete diagnosis. The main objective of

  1. 假肥大型肌营养不良症的产前基因诊断%Prenatal molecular diagnosis of Duchenne and Becker muscular dystrophy

    Institute of Scientific and Technical Information of China (English)

    黎青; 李少英; 胡冬贵; 孙筱放; 陈敦金; 张成; 蒋玮莹

    2006-01-01

    Objective: Duchenne and Becker muscular dystrophy (DMD/BMD) is an X-linked lethal recessive disease caused by mutations in the dystrophy gene. There is no efficient treatment for this serious and disabling disease. We established a combination method to detect carriers and perform prenatal diagnosis. Methods: In our study, from 1994 to 2005, using a different combination of 5 methods, including SRY gene amplification, multiplex PCR, multiplex Fluorescence PCR capillary electrophoresis, multiplex ligation-dependent probe amplification (MLPA) and linkage analysis of short tandem repeats (STR), 36 prenatal diagnosis were performed for pregnancies at risk of having a DMD/BMD baby through amniocentesis. Results: Fourteen out of 21 male fetuses were found to be affected and respective pregnancies were terminated. A combined diagnostic rate of 83% was achieved for 30 cases with deletions, duplications, and non-deletion mutations after tested by more than one method. Conclusion: Using a combined method, we can diagnoses patients and carriers in DMD families, and perform prenatal diagnosis for the risk fetus. MLPA provides a simple, rapid and accurate method for deletions and duplications of all the 79 DMD exons. MLPA method for DMD diagnosis is the first report in our country.

  2. Prenatal diagnosis of Pallister-Killian syndrome in young woman: ultrasound indicators and confirmation by FISH.

    Science.gov (United States)

    Kolarski, Milenko; Joksić, Gordana; Beres, Maja; Krstić, Aleksandar; Joksić, Ivana; Dobrojević, Boris; Nikić, Slavko

    2009-03-01

    We report the first case of Pallister-Killian syndrome diagnosed prenatally in Western Balkan region where one of the ultrasound markers was intrauterine growth restriction. During routine ultrasound control of the pregnancy at 21st gestation week (second pregnancy of the 25 year old woman) symmetrical intrauterine growth restriction (IUGR), short long bones, ventriculomegaly and oligoamnion were noted. Amniotic fluid was examined cytogenetically. Fetal karyotype obtained by GTG banding of amniocytes revealed mosaic female karyotype 46,XX/47,XX,+mar (F-like). C-banding indicated that F-like marker does not belong to F, E or G chromosomal group. Employing targeted FISH with arm-specific probe for chromosome 12, tetrasomy 12p was confirmed. Fetal lymphocytes revealed normal female karyotype. This case showed that i(12p) could be found in pregnancy of young woman, not only in those of advanced age, as usually reported in the literature. This case also showed that intrauterine growth restriction could be one of the ultrasound markers associated with Pallister-Killian syndrome.

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

    Directory of Open Access Journals (Sweden)

    Gollop Thomaz Rafael

    1999-01-01

    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.

  4. Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21.

    Science.gov (United States)

    Brisset, Sophie; Aboura, Azzedine; Audibert, François; Costa, Jean-Marc; L'Herminé, Aurore Coulomb; Gautier, Valérie; Frydman, René; Tachdjian, Gérard

    2003-06-01

    Trisomy 21 mosaicism associated with a structural rearrangement of chromosome 21 is uncommon. We report on two prenatal diagnoses in which karyotypes showed mosaicism with an aberrant cell line, including a structural rearrangement of chromosome 21. Both these cases were associated with increased nuchal translucency. Conventional and molecular cytogenetic analyses were performed on uncultured and cultured trophoblast and amniotic fluid cells. In Case 1, analysis of trophoblast cells revealed an abnormal karyotype of 47,XX,+mar.ish der(13/21)(D13Z1/D21Z1+)/46,XX. The amniocentesis showed a free non-mosaic trisomy 21. In Case 2, the trophoblast direct analysis showed a normal male karyotype whereas the long-term culture revealed a mosaicism for a dicentric long-arm isochromosome 21: 46,XY,idic(21)(p11)/45,XY,-21/46,XY. Amniocentesis showed an unbalanced non-mosaic karyotype 46,XY,idic(21)(p11) resulting therefore in trisomy for the long arm of chromosome 21. Our cases underline the importance of combining the direct analysis and long-term culture of trophoblast and emphasise the need for confirmatory studies in other tissues when mosaicism of structural rearrangement is encountered in chorionic villi. The meiotic and mitotic mechanisms of formation of these structural rearrangements of chromosome 21 are discussed. Copyright 2003 John Wiley & Sons, Ltd.

  5. Prenatal diagnosis and molecular cytogenetic analysis of a de novo isodicentric chromosome 18

    Science.gov (United States)

    Zhang, Yanliang; Dai, Yong; Ren, Jinghui; Wang, Linqian

    2010-01-01

    Isodicentric chromosome 18 [idic(18)] is rare structural aberration. We report on a prenatal case described by conventional and molecular cytogenetic analyses. The sonography at 24 weeks of gestation revealed multiple fetal anomalies; radial aplasia and ventricular septal defect were significant features. Routine karyotyping showed a derivative chromosome replacing one normal chromosome 18. The parental karyotypes were normal, indicating that the derivative chromosome was de novo. Array comparative genomic hybridization (array-CGH) revealed 18p11.21→qter duplication and 18p11.21→pter deletion for genomic DNA of the fetus. The breakpoint was located at 18p11.21 (between 12104527 bp and 12145199 bp from the telomere of 18p). Thus, the derivative chromosome was ascertained as idic(18)(qter→p11.21::p11.21→qter). Fluorescent in situ hybridization (FISH) confirmed that the derivative chromosome was idic(18). Our report describes a rare isodicentric chromosome 18 and demonstrates that array-CGH is a useful complementary tool to cytogenetic analysis for reliable identifying derivative chromosome. PMID:20864786

  6. Transabdominal chorionic villus sampling and amniocentesis for prenatal diagnosis: 5 years' experience at a university centre.

    Science.gov (United States)

    Palo, P; Piiroinen, O; Honkonen, E; Lakkala, T; Aula, P

    1994-03-01

    The fetal loss rates and fetal congenital birth defects in 821 transabdominal (TA) chorionic villus sampling (CVS) and 771 amniocentesis (AC) cases were evaluated from a 5-year period (1987-1991) at the University Central Hospital of Turku. The parents were given the option of choosing between the two sampling procedures. CVS was performed, in most cases, at 11 weeks of gestation; and AC, at 15 weeks. The rate of total post-procedure loss was 6.7 per cent in the CVS group and 4.4 per cent in the AC group (p = 0.08). The rate of spontaneous abortions was 1.9 per cent in the CVS group and 1.0 per cent in the AC group (p = 0.10). The number of birth defects was low in both study groups. No limb reduction cases were observed. Mosaicism was noted in 14 CVS cases and in five AC cases. We conclude that TA-CVS is a safe and practical alternative to AC in prenatal fetal karyotyping.

  7. A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH

    DEFF Research Database (Denmark)

    Ramsing, Mette; Becher, Naja Helene; Christensen, Rikke

    A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH......A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH...

  8. THE IMPORTANCE OF PATERNAL INVOLVEMENT DURING PRENATAL CARE: PERCEPTION OF THE MOTHER AND FATHER IN THE CITY OF CACERES – MT.

    Directory of Open Access Journals (Sweden)

    Taíse Neves Ferreira

    2014-05-01

    Full Text Available In society, pregnancy has always been treated as a uniquely female experience, however, it is observed that the concepts and functions predetermined for men and women in the family are in full transformation. Describe the importance of parental involvement in monitoring prenatal vision of father and pregnant. This is a descriptive and quantitative study. The research had as reference Strategies Family Health Cáceres - MT. Participants were 30 pregnant women and their companions. When asked whether women talked to his companions about the importance of paternal participation in prenatal care, 67% of women answered yes and 33% did not talk. It is important to note that prenatal quality is achieved through pipelines necessary for pregnant women and hospitable. Geared this progress is the father figure who demonstrates an interest in participating, however, the work prevent them from contributing effectively.

  9. Prenatal diagnosis of Cantrell pentalogy in first trimester screening: case report and review of literature

    Science.gov (United States)

    Ergenoğlu, Mete Ahmet; Yeniel, A. Özgür; Peker, Nuri; Kazandı, Mert; Akercan, Fuat; Sağol, Sermet

    2012-01-01

    Pentalogy of Cantrell is a heterogeneous and rare thoraco-abdominal wall closure defect with the estimated prevalence of 1/65.000 to 1/200.000 births. Supraumbilical midline wall defect (generally omphalocele), deficiency of the anterior diaphragm and diaphragmatic peritoneum, defect of the lower sternum and several intracardiac defects are the components of Cantrell pentalogy. Etiology is unknown but a defect on the lateral mesoderm during the early stage of pregnancy is the most accepted hypothesis. Nowadays both 2- dimensional (2D) and 3-dimensional (3D) sonography are commonly used in diagnosis. In our case, a fetus with 11 weeks of gestation was reported as Cantrell pentalogy during first trimester screening. Additionally, unilateral limb defect and lumbar lordoscoliosis were detected through 3D sonography. Pregnancy was terminated according to parental desire. Karyotype was 46 XY. Early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. Additionally, development in ultrasound technology provides us with better visualization and early diagnosis. Prognosis seems to be poor in patients with complete Cantrell syndrome and patients with associated anomalies. Termination is the choice of treatment. Early diagnosis gives us a chance to reduce maternal morbidity and mortality related to termination. PMID:24592026

  10. First-trimester prenatal sonographic diagnosis of ectopia cordis in a twin gestation.

    Science.gov (United States)

    Barbee, Kristen; Wax, Joseph R; Pinette, Michael G; Cartin, Angelina; Blackstone, Jacquelyn

    2009-01-01

    The 11-14-week ultrasound examination allows early pregnancy dating, detection of major anomalies and multiple gestations, and accurate chorionicity determination. We describe a rare case of first-trimester sonographic diagnosis of ectopia cordis in a dichorionic twin pregnancy, illustrating the benefits of early ultrasound in patient counseling and management.

  11. Primary hyperoxaluria type 1: clinical manifestations in infancy and prenatal diagnosis

    DEFF Research Database (Denmark)

    Illum, N; Lavard, L; Danpure, C J;

    1992-01-01

    biopsy demonstrated complete absence of alanine: glyoxylate aminotransferase catalytic activity and immunoreactive protein compatible with a diagnosis of primary hyperoxaluria type 1. He died at the age of 11 months, just before liver transplantation was made possible. Fetal liver biopsy in the mother...... be an early sign of renal damage secondary to accumulation of oxalate crystals....

  12. Prenatal diagnosis of the Meckel-Gruber syndrome from 11th to 20th gestational week.

    Science.gov (United States)

    Mittermayer, C; Lee, A; Brugger, P C

    2004-08-01

    The Meckel-Gruber syndrome (MKS) is a rare autosomal recessive disorder that is characterized by typical sonographical findings: occipital encephalocele, postaxial polydactyly and cystic enlargement of the kidneys. Its recurrence risk of 25 % demands an exact diagnosis. Retrospective analysis of the sonographic characteristics in relation to the gestational age in eight cases with the pathologic diagnosis of MKS. The sonographic characteristics depend on the gestational age. The classic trias was solely seen in the case diagnosed before 14 (th) week of gestation. In the other seven cases, diagnosed between the 17 (th) and 20 (th) week of gestational age, only two of three characteristic signs of MKS could be visualised by US. Polydactyly was missed by ultrasound in all seven cases due to the marked oligohydramnion. The Meckel-Gruber syndrome can be confidently detected and diagnosed by sonography at the 11th to 14th gestational week. Later in the pregnancy, severe oligohydramnion makes it more difficult to establish the diagnosis by US alone. In these cases a meticulous autopsy is necessary to establish the diagnosis of MKS.

  13. 帆状胎盘的产前超声诊断研究%Prenatal Ultrasonographic Diagnosis of Velamentous Placenta

    Institute of Scientific and Technical Information of China (English)

    庄佳玲; 张蒂荣

    2012-01-01

    目的 探讨应用二维彩色多普勒超声观察脐带帆状附着前及附着后异常脐血管走行特点对帆状胎盘的诊断价值.方法 选择我院接受产前超声检查并诊断帆状胎盘42例,结合产后病理检查,分析其声像图特征.结果 本组病例中产前超声检查诊断帆状胎盘42例,产后病理证实帆状胎盘35例,球拍状胎盘7例,符合率83%(35/42).总结脐带帆状附着前及附着后脐血管的走行有以下表现:(1)见多处单根脐动脉与单根脐静脉伴行出入胎盘;(2)脐动脉进入胎盘前或脐静脉出胎盘后呈单根独立走行;(3)脐动脉进入胎盘前先发出分支或脐静脉出胎盘后再汇合.结论 脐带帆状附着前及附着后异常脐血管的走行可作为超声诊断帆状胎盘的线索,在提高产前超声诊断帆状胎盘的准确率方面有重要的临床价值.%Objective To evaluate the distribution of aberrant umbilical vessels in velamentous placenta by color Doppler flow image. Methods 42 fetuses prenatally diagnosed as velamentous placenta by ultrasonography were retrospectively investigated for their sonographic features. Results 42 fetuses were diagnosed as velamentous placenta by prenatal ultrasonography. Postnatal gross appearance of placenta confirmed that 35 of them were velamentous placenta, 7 were battledore placenta. The accuracy rate is 83% (35/42). The sonographic finding of the aberrant umbilical vessels in velamentous placenta are as follow: (1) Single umbilical artery accompanying with single umbilical vein access to the placenta; (2) Umbilical artery that enter the placenta or umbilical vein that come out from the placenta runs independently ; (3) Umbilical artery sends out the branches before entering the placenta. Conclusions The distribution of aberrant umbilical vessels is a reliable clue to make the diagnosis of velamentous placenta and it has a great clinical value in improving the accuracy of prenatal ultrasonographic diagnosis

  14. Rapid Prenatal Diagnosis of Trisomy 21 by Real-time Quantitative Polymerase Chain Reaction with Amplification of Small Tandem Repeats and S100B in Chromosome 21

    Science.gov (United States)

    Nam, Mi Suk; Yang, Eun Suk

    2005-01-01

    Trisomy 21 (Down syndrome) is the most common congenital anomaly, and it occurs in one out of 700-1000 births. Current techniques such as amniocentesis and chorionic villi sampling (CVS) require lengthy laboratory culture procedures and high costs. This study was undertaken to establish a rapid prenatal diagnosis of trisomy 21 using real-time quantitative polymerase chain reaction (PCR) of fetal DNA from amniotic fluid. Real-time quantitative PCR was performed with DNA templates obtained from 14 normal blood samples, 10 normal amniotic fluid samples, 14 Down syndrome blood samples, and 7 Down syndrome amniotic fluid samples. Primers for D21S167 and S100B of chromosome 21 were used. Primers that direct the amplification of the 165-bp fragment of the insulin-like growth factor (IGF)-1 gene on chromosome 12 using a PCR primer were included to generate an internal standard for quantitation. The relative levels of D21S167 and S100B were 2.6 and 2.4 times higher in the blood of Down syndrome patients than those in the control group. The differences between these two groups were statistically significant (p-values were 0.0012 and 0.0016, respectively). The relative levels of D21S167 and S100B were 2.1 and 2.7 times higher in the amniotic fluid of Down syndrome fetuses than those in the control group. The difference between these two groups was statistically significant (p-values were 0.0379 and 0.0379, respectively). Prenatal diagnosis of trisomy 21 by real-time quantitative PCR using STR (small tandem repeats) amplification of D21S167 and S100B is a useful, accurate and rapid diagnostic method. Furthermore, it may also be useful for prenatal diagnosis with fetal DNA from maternal blood, and for preimplantation genetic diagnosis and prenatal counseling. PMID:15861490

  15. Congenital epulis: prenatal imaging with MRI and ultrasound

    Energy Technology Data Exchange (ETDEWEB)

    Roy, Sylvain; Patenaude, Yves G. [Department of Diagnostic Radiology, CHUS-Hopital Fleurimont, 3001 12 Ave Nord, J1H 5N4, Fleurimont, Quebec (Canada); Sinsky, Anna [Department of Diagnostic Radiology, UNC School of Medicine, 3322 Old Infirmary Building, NC 27599-7510, Chapel Hill (United States); Williams, Bruce [Department of Surgery, Montreal Children' s Hospital, Room C1139, 2300 Tupper Street, H3H 1P3, Montreal, Quebec (Canada); Desilets, Valerie [Department of Obstetrics and Gynecology, Royal Victoria Hospital, 687 Pine Avenue West, H3A 1A1, Montreal, Quebec (Canada)

    2003-11-01

    Congenital epulis is an uncommon benign tumor that originates from the alveolar ridge in newborns. It is also known as congenital gingival granular cell tumor. Although there have been around 200 reports of its postnatal diagnosis, this oral tumor has rarely been diagnosed prenatally. We present fetal MRI and Doppler prenatal imaging of an infant with two congenital epulides (simultaneous involvement of superior and inferior maxillas). (orig.)

  16. Attitudes towards prenatal diagnosis and abortion in a multi-ethnic country: a survey among parents of children with thalassaemia major in Malaysia.

    Science.gov (United States)

    Ngim, Chin Fang; Lai, Nai Ming; Ibrahim, Hishamshah; Ratnasingam, Vanassa

    2013-04-01

    Thalassaemia is a public health problem in multi-ethnic Malaysia which mainly affects the Malays, Kadazan-Dusuns and Chinese. This study, the first in Malaysia, aims to evaluate the acceptability of prenatal diagnosis and abortion among Malaysian parents who have a child or children with thalassaemia major and the socio-demographic factors affecting their decision-making. A pre-structured questionnaire was distributed to parents of children with thalassaemia major. Response rate for completed surveys was 99.1 %. Out of 116 respondents, the majority (83/71.6 %) were agreeable for prenatal diagnosis, but only 33 (28.4 %) agreed to both prenatal diagnosis followed by termination of affected foetuses. Of parents who declined abortion, 77.6 % cited religious restriction as the main reason, and their religious background was a significant factor (p = 0.001), with 73.4 % of Muslim participants against termination compared to 25 % of Christians and 13.3 % of Buddhists. Gender, age, highest education level and number of children affected with thalassaemia were non-significant predictors in decision-making regarding abortion. The acceptance rate for termination of foetuses with thalassaemia major in Malaysia is low especially among the Muslims due to religious non-permissibility. Therefore, scholarly deliberations among the Malaysian Muslim religious authorities that result in a supportive stance in this issue may contribute to a more successful prevention programme.

  17. Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder.

    Science.gov (United States)

    Karaca, Ender; Karakoc-Aydiner, Elif; Bayrak, Omer Faruk; Keles, Sevgi; Sevli, Serhat; Barlan, Isil B; Yuksel, Adnan; Chatila, Talal A; Ozen, Mustafa

    2013-01-10

    Protein tyrosine kinases (PTKs) play an important role in T cell development and activation. In vitro and in vivo defects, resulting in variable deficiencies in thymic development and in T cell antigen receptor (TCR) signal transduction, in PTKs have been shown. ZAP70, one of those PTKs, is a 70-kDa tyrosine phosphoprotein and associates with the ζ chain and undergoes tyrosine phosphorylation following TCR stimulation. It is expressed in T and natural killer (NK) cells. Several mutations were shown to lead to an autosomal recessive form of severe combined immunodeficiency disease (SCID). Here, we present a family with a novel mutation in ZAP70. The proband, the second child of the first cousin parents of Turkish origin, was diagnosed with SCID having R514C mutation on homozygous state. She had decreased CD8(+) T and natural killer cells, normal CD4(+) T cells, high serum Ig E level, perivascular dermatitis and ichthyosis. This article presents clinical features of a novel mutation on ZAP70 and the first prenatal molecular diagnosis of ZAP70 deficiency. Different mutations in ZAP70 and related phenotypes reported in the literature are also discussed.

  18. Prenatal Diagnosis of Coronary Artery Fistula: A Case Report and Review of Literature

    Directory of Open Access Journals (Sweden)

    Mohamed Nagiub

    2014-11-01

    Full Text Available We report an antenatally diagnosed large distal coronary artery fistula (CAF arising from an aneurysmal dilation right coronary artery (RCA and draining in to the right ventricle (RV just below the septal leaflet of tricuspid valve posteriorly. A postnatal echocardiogram confirmed the diagnosis. On the second day of life, a percutaneous partial closure of the fistula was performed by placing a Flipper coil (Cook Medical, Bloomington, IN in the RCA just proximal to the drainage site in the cardiac catheterization laboratory. Follow-up echocardiogram on the day following the procedure showed improved forward flow in the descending aorta with decreased RV size. Our case report suggests that antenatal diagnosis of a CAF may aid in early intervention. Partial closure of the fistula in the cardiac catheterization laboratory is safe and effective.

  19. Fetal brain tumors: Prenatal diagnosis by ultrasound and magnetic resonance imaging

    Institute of Scientific and Technical Information of China (English)

    Hérbene; José; Milani; Edward; Araujo; Júnior; Sérgio; Cavalheiro; Patrícia; Soares; Oliveira; Wagner; Jou; Hisaba; Enoch; Quinderé; Sá; Barreto; Maurício; Mendes; Barbosa; Luciano; Marcondes; Nardozza; Antonio; Fernandes; Moron

    2015-01-01

    Congenital central nervous system tumors diagnosed during pregnancy are rare, and often have a poor prognosis. The most frequent type is the teratoma. Use of ultrasound and magnetic resonance image allows the suspicion of brain tumors during pregnancy. However, the definitive diagnosis is only confirmed after birth by histology. The purpose of this mini-review article is to describe the general clinical aspects of intracranial tumors and describe the main fetal brain tumors.

  20. Prenatal diagnosis of craniomaxillofacial malformations: a characterization of phenotypes in trisomies 13, 18, and 21 by ultrasound and pathology.

    NARCIS (Netherlands)

    Ettema, A.M.; Wenghoefer, M.; Hansmann, M.; Carels, C.E.L.; Borstlap, W.A.; Berge, S.J.

    2010-01-01

    OBJECTIVE: To determine the relationship between trisomies 13, 18, and 21 and craniofacial malformations detected by prenatal sonography. DESIGN: During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with tr

  1. Prenatal diagnosis of craniomaxillofacial malformations: a characterization of phenotypes in trisomies 13, 18, and 21 by ultrasound and pathology.

    NARCIS (Netherlands)

    Ettema, A.M.; Wenghoefer, M.; Hansmann, M.; Carels, C.E.L.; Borstlap, W.A.; Berge, S.J.

    2010-01-01

    OBJECTIVE: To determine the relationship between trisomies 13, 18, and 21 and craniofacial malformations detected by prenatal sonography. DESIGN: During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with tr

  2. Prenatal diagnosis of cerebral lesions in Tuberous sclerosis complex (TSC). Case report and review of the literature.

    NARCIS (Netherlands)

    Wortmann, S.B.; Reimer, A.G.; Creemers, J.W.; Mullaart, R.A.

    2008-01-01

    Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder with multi-organ involvement. The diagnosis is suspected at fetal ultrasound on the discovery of multiple cardiac rhabdomyomas (CRs). They typically develop in utero and undergo spontaneous regression during the first

  3. Preimplantation and prenatal diagnosis, wrongful birth and wrongful life: a global view of bioethical and legal controversies.

    Science.gov (United States)

    Frati, Paola; Fineschi, Vittorio; Di Sanzo, Mariantonia; La Russa, Raffaele; Scopetti, Matteo; Severi, Filiberto M; Turillazzi, Emanuela

    2017-05-01

    Prenatal diagnosis based on different technologies is increasingly used in developed countries and has become a common strategy in obstetric practice. The tests are crucial in enabling mothers to make informed decisions about the possibility of terminating pregnancy. They have generated numerous bioethical and legal controversies in the field of 'wrongful life' claims (action brought by or on behalf of a child against the mother or other people, claiming that he or she has to endure a not-worth-living existence) and 'wrongful birth' claims (action brought by the mother or parents against the physician for being burdened with an unwanted, often disabled child, which could have been avoided). The possibility which exists nowadays to intervene actively by programming and deciding the phases linked to procreation and birth has raised several questions worldwide. The mother's right to self-determination could be an end but whether or not this right is absolute is debatable. Freedom could, with time, act as a barrier that obstructs intrusion into other people's lives and their personal choices. Therapeutic choices may be manageable in a liberal sense, and the sanctity of life can be inflected in a secular sense. These sensitive issues and the various points of view to be considered have motivated this review. Literature searches were conducted on relevant demographic, social science and medical science databases (SocINDEX, Econlit, PopLine, Medline, Embase and Current Contents) and via other sources. Searches focused on subjects related to bioethical and legal controversies in the field of preimplantation and prenatal diagnosis, wrongful birth and wrongful life. A review of the international state of law was carried out, focusing attention on the peculiar issue of wrongful life and investigating the different jurisdictional solutions of wrongful life claims in a comparative survey. Courts around the world are generally reluctant to acknowledge wrongful life claims due to

  4. Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus

    Directory of Open Access Journals (Sweden)

    Iman S. Abumansour

    2015-10-01

    Full Text Available Background - Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker–Warburg syndrome (WWS, Carpenter syndrome, and Meckel syndrome. Aim - In this report we discuss the antenatal diagnosis of congenital hydrocephalus in three related Palestinian families. Method - Single nucleotide polymorphism (SNP array was performed prenatally for the third affected fetus. Results A diagnosis of WWS was found and molecular testing revealed a known pathogenic mutation in the POMT2 gene. An affected fetus from the other family was diagnosed and tested postnatally in light of this finding. Testing of another affected stillborn offspring was performed and revealed the same mutation. Conclusions - Here, we show that the use of prenatal SNP array testing can be helpful in elucidating the etiology of congenital hydrocephalus and in guiding appropriate perinatal care. Also, testing for this specific POMT2 mutation should be considered in cases of prenatally detected hydrocephalus in Palestinian families.

  5. Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus

    Science.gov (United States)

    Abumansour, Iman S.; Al Sulmi, Eman; Chodirker, Bernard N.; Hunt, Jennifer C.

    2015-01-01

    Background Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker–Warburg syndrome (WWS), Carpenter syndrome, and Meckel syndrome. Aim In this report we discuss the antenatal diagnosis of congenital hydrocephalus in three related Palestinian families. Method Single nucleotide polymorphism (SNP) array was performed prenatally for the third affected fetus. Results A diagnosis of WWS was found and molecular testing revealed a known pathogenic mutation in the POMT2 gene. An affected fetus from the other family was diagnosed and tested postnatally in light of this finding. Testing of another affected stillborn offspring was performed and revealed the same mutation. Conclusions Here, we show that the use of prenatal SNP array testing can be helpful in elucidating the etiology of congenital hydrocephalus and in guiding appropriate perinatal care. Also, testing for this specific POMT2 mutation should be considered in cases of prenatally detected hydrocephalus in Palestinian families. PMID:26495167

  6. Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus.

    Science.gov (United States)

    Abumansour, Iman S; Al Sulmi, Eman; Chodirker, Bernard N; Hunt, Jennifer C

    2015-10-01

    Background Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker-Warburg syndrome (WWS), Carpenter syndrome, and Meckel syndrome. Aim In this report we discuss the antenatal diagnosis of congenital hydrocephalus in three related Palestinian families. Method Single nucleotide polymorphism (SNP) array was performed prenatally for the third affected fetus. Results A diagnosis of WWS was found and molecular testing revealed a known pathogenic mutation in the POMT2 gene. An affected fetus from the other family was diagnosed and tested postnatally in light of this finding. Testing of another affected stillborn offspring was performed and revealed the same mutation. Conclusions Here, we show that the use of prenatal SNP array testing can be helpful in elucidating the etiology of congenital hydrocephalus and in guiding appropriate perinatal care. Also, testing for this specific POMT2 mutation should be considered in cases of prenatally detected hydrocephalus in Palestinian families.

  7. Prenatal diagnosis of congenital rubella infection in São Paulo

    Directory of Open Access Journals (Sweden)

    Suely Pires Curti

    2014-10-01

    Full Text Available Objective: rubella during the early stages of pregnancy can lead to severe birth defects known as congenital rubella syndrome (CRS. Samples collected from pregnant women with symptoms and suspected of congenital rubella infection between 1996 and 2008 were analyzed. Methods: a total of 23 amniotic fluid samples, 16 fetal blood samples, 1 product of conception and 1 placenta were analyzed by serology and RT-PCR. Results: all patients presented positive serology for IgG / IgM antibodies to rubella virus. Among neonates, 16 were IgG-positive, 9 were IgM-positive and 4 were negative for both antibodies. Of the 25 samples analyzed in this study, 24 were positive by RT-PCR. Changes in ultrasound were found in 15 (60% of 25 fetuses infected with rubella virus. Fetal death and miscarriage were reported in 10 (40% of the 25 cases analyzed. The rubella virus was amplified by PCR in all fetuses with abnormal ultrasound compatible with rubella. Fetal death and abortion were reported in 10 of 25 cases analyzed. Conclusion: this study, based on primary maternal rubella infection definitely confirms the good sensitivity and specificity of RT-PCR using amniotic fluid and ultrasound. The results showed that molecular assays are important tools in the early diagnosis of rubella and congenital rubella syndrome.

  8. 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.

  9. Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI

    Energy Technology Data Exchange (ETDEWEB)

    Katorza, Eldad; Nahama-Allouche, Catherine; Ducou le Pointe, Hubert; Garel, Catherine [Hopital d' Enfants Armand-Trousseau, Service de Radiologie, Paris (France); Castaigne, Vanina [Hopital Saint-Antoine, Service de Gynecologie-Obstetrique, Paris (France); Gonzales, Marie; Marlin, Sandrine [Hopital d' Enfants Armand-Trousseau, Service de Genetique et Embryologie medicales, Paris (France); Galliani, Eva [Hopital d' Enfants Armand-Trousseau, Service de Chirurgie maxillo-faciale, Paris (France); Jouannic, Jean-Marie; Rosenblatt, Jonathan [Hopital d' Enfants Armand-Trousseau, Service de Gynecologie-Obstetrique, Centre pluridisciplinaire de diagnostic prenatal, Paris (France)

    2011-05-15

    Analysis of the middle ear with fetal MRI has not been previously reported. To show the contribution of fetal MRI to middle ear imaging. The tympanic cavity was evaluated in 108 fetal cerebral MRI examinations (facial and/or cerebral malformation excluded) and in two cases, one of Treacher Collins syndrome (case 1) and the other of oculo-auriculo-vertebral (OUV) spectrum (case 2) with middle ear hypoplasia identified by MRI at 27 and 36 weeks' gestation, respectively. In all 108 fetuses (mean gestational age 32.5 weeks), the tympanic cavity and T2 hypointensity related to the ossicles were well visualised on both sides. Case 1 had micro/retrognathia and bilateral external ear deformity and case 2 had retrognathism with a left low-set and deformed ear. MRI made it possible to recognize the marked hypoplasia of the tympanic cavity, which was bilateral in case 1 and unilateral in case 2. Both syndromes are characterized by craniofacial abnormalities including middle ear hypoplasia, which cannot be diagnosed with US. The middle ear cavity can be visualized with fetal MRI. We emphasize the use of this imaging modality in the diagnosis of middle ear hypoplasia. (orig.)

  10. Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.

    Science.gov (United States)

    Serikawa, Takehiro; Nishiyama, Kenichi; Tohyama, Jun; Tazawa, Ryushi; Goto, Kiyoe; Kuriyama, Yoko; Haino, Kazufumi; Kanemura, Yonehiro; Yamasaki, Mami; Nakata, Koh; Takakuwa, Koichi; Enomoto, Takayuki

    2014-11-01

    We present a case of a patient whose L1CAM gene in X-chromosome has a C924T transition. Her first son's ventriculomegaly was prenatally detected. A mature infant was born, his head circumference was large, and thumbs were bilaterally adducted. X-linked hydrocephalus (XLH) was suspected. The DNA examination revealed that both her and boy's LICAM gene had a C924T transition. She became pregnant 5 years later and amniocentesis was performed. The results of cytogenetic analysis revealed that the fetus was female. She continued her pregnancy and delivered a healthy girl. She again became pregnant 3 years later. The chromosomal analysis revealed that the fetus was male. Fetal DNA analysis determined that the fetus had the inherited mutation. She chose to terminate the pregnancy. A C924T mutation can be disease causing for XLH, and the detection of this mutation would aid in genetic counseling for the prenatal diagnosis of XLH.

  11. Hereditary tyrosinemia type 1: Strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Demers, S.I.; Phaneuf, D.; Tanguay, R.M. (Centre de Recherche du CHUL, Quebec (Canada))

    1994-08-01

    Hereditary tyrosinemia type 1 (HT1), a severe inborn error of tyrosine catabolism, is caused by deficiency of the terminal enzyme, fumarylacetoacetate hydrolase (FAH). The highest reported frequency of HT1 is in the French Canadian population, especially in the Saguenay-Lac-St-Jean region. Using human FAH cDNA probes, the authors have identified 10 haplotypes with TaqI, KpnI, RsaI, BglII, and MspI RFLPs in 118 normal chromosomes from the French Canadian population. Interestingly, in 29 HT1 children, a prevalent haplotype, haplotype 6, was found to be strongly associated with the disease, at a frequency of 90% of alleles, as compared with [approximately] 18% in 35 control individuals. This increased to 96% in the 24 patients originating from Saguenay-Lac-St-Jean. These results suggest that one or only a few prevailing mutations are responsible for most of the HT1 cases in Saguenay-Lac-St-Jean. Since most patients were found to be homozygous for a specific haplotype in this population, FAH RFLPs have permitted simple carrier detection in nine different informative HT1 families, with a confidence level of 99.9%. Heterozygosity rate values obtained from 52 carriers indicated that [approximately] 88% of families at risk from Saguenay-Lac-St-Jean are fully or partially informative. Prenatal diagnosis was also achieved in an American family. Analysis of 24 HT1 patients from nine countries gave a frequency of [approximately] 52% for haplotype 6, suggesting a relatively high association, worldwide, of HT1 with this haplotype. 31 refs., 1 fig., 3 tabs.

  12. Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.

    Science.gov (United States)

    Demers, S I; Phaneuf, D; Tanguay, R M

    1994-08-01

    Hereditary tyrosinemia type 1 (HT1), a severe inborn error of tyrosine catabolism, is caused by deficiency of the terminal enzyme, fumarylacetoacetate hydrolase (FAH). The highest reported frequency of HT1 is in the French Canadian population, especially in the Saguenay-Lac-St-Jean region. Using human FAH cDNA probes, we have identified 10 haplotypes with TaqI, KpnI, RsaI, BglII, and MspI RFLPs in 118 normal chromosomes from the French Canadian population. Interestingly, in 29 HT1 children, a prevalent haplotype, haplotype 6, was found to be strongly associated with the disease, at a frequency of 90% of alleles, as compared with approximately 18% in 35 control individuals. This increased to 96% in the 24 patients originating from Saguenay-Lac-St-Jean. These results suggest that one or only a few prevailing mutations are responsible for most of the HT1 cases in Saguenay-Lac-St-Jean. Since most patients were found to be homozygous for a specific haplotype in this population, FAH RFLPs have permitted simple carrier detection in nine different informative HT1 families, with a confidence level of 99.9%. Heterozygosity rate values obtained from 52 carriers indicated that approximately 88% of families at risk from Saguenay-Lac-St-Jean are fully or partially informative. Prenatal diagnosis was also achieved in an American family. Analysis of 24 HT1 patients from nine countries gave a frequency of approximately 52% for haplotype 6, suggesting a relatively high association, worldwide, of HT1 with this haplotype.

  13. Prenatal diagnosis of thoracic ectopia cordis by real-time fetal cardiac magnetic resonance imaging and by echocardiography.

    Science.gov (United States)

    Moniotte, Stéphane; Powell, Andrew J; Barnewolt, Carol E; Annese, David; Geva, Tal

    2008-01-01

    Ectopia cordis is a rare congenital defect commonly associated with intra- and extra-cardiac anomalies. This report highlights the complimentary use of echocardiography and cardiac magnetic resonance imaging for detailed prenatal characterization of the anomaly at 23-week gestation.

  14. Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

    Directory of Open Access Journals (Sweden)

    Jonathan Lévy

    2013-01-01

    Full Text Available Ectrodactyly or split hand and foot malformations (SHFMs are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks’ gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy.

  15. Diagnóstico prenatal no invasivo: Ácidos nucleicos de origen fetal en sangre materna Non invasive prenatal diagnosis: Fetal nucleic acid analysis in maternal blood

    OpenAIRE

    Carla Sesarini; Pablo Argibay; Lucas Otaño

    2010-01-01

    Las técnicas actuales de diagnóstico prenatal de enfermedades génicas y cromosómicas incluyen procedimientos invasivos que conllevan un pequeño, pero significativo, riesgo. Por muchos años se ha estudiado la posibilidad de utilizar células fetales en circulación materna; sin embargo, ha fracasado su implementación clínica debido a su escasez y persistencia luego del parto. Desde hace más de una década se detectó ADN fetal libre en sangre de embarazadas. Este sería de origen placentario e inde...

  16. Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects.

    Science.gov (United States)

    Wilson, R Douglas; Wilson, R Douglas; Audibert, Francois; Brock, Jo-Ann; Campagnolo, Carla; Carroll, June; Cartier, Lola; Chitayat, David; Gagnon, Alain; Johnson, Jo-Ann; Langlois, Sylvie; MacDonald, W Kim; Murphy-Kaulbeck, Lynn; Okun, Nanette; Pastuck, Melanie; Popa, Vanessa

    2014-10-01

    Objectif : Fournir, aux professionnels de la santé des domaines de l’obstétrique et de la génétique, des lignes directrices et des recommandations en ce qui a trait au dépistage / diagnostic prénatal et à la prise en charge obstétricale du dysraphisme spinal ouvert / fermé (DSOF) chez le fœtus. Options : La présente analyse englobe les techniques de dépistage / diagnostic prénatal qui sont actuellement utilisées aux fins de la détection du DSOF, y compris le dépistage des concentrations sériques en alphafoetoprotéines chez la mère, l’échographie, l’imagerie par résonance magnétique visant le fœtus et l’amniocentèse. Issues : Améliorer le dépistage / diagnostic prénatal et la prise en charge obstétricale du DSOF, tout en prenant en considération les soins offerts à la patiente, l’efficacité, les coûts et les interventions de soins. Résultats : La littérature publiée a été récupérée par l’intermédiaire de recherches menées dans PubMed ou MEDLINE, CINAHL et The Cochrane Library en novembre 2013 au moyen d’un vocabulaire contrôlé et de mots clés appropriés (p. ex. « prenatal screening », « congenital anomalies », « neural tube defects », « alpha-fetoprotein », « ultrasound scan », « magnetic resonance imaging »). Les résultats ont été restreints aux analyses systématiques, aux essais comparatifs randomisés / essais cliniques comparatifs et aux études observationnelles publiés en anglais entre 1977 et 2012. Les recherches ont été mises à jour de façon régulière et ont été intégrées à la directive clinique jusqu’au 30 novembre 2013. La littérature grise (non publiée) a été identifiée par l’intermédiaire de recherches menées dans les sites Web d’organismes s’intéressant à l’évaluation des technologies dans le domaine de la santé et d’organismes connexes, dans des collections de directives cliniques, dans des registres d

  17. Pure partial monosomy 3p (3p25.3 → pter: Prenatal diagnosis and array comparative genomic hybridization characterization

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2012-09-01

    Conclusion: In this case, aCGH has characterized a 3p deleted region with haploinsufficiency of the neurodevelopmental genes associated with cognitive deficit and mental retardation but without involvement of the congenital heart disease susceptibility locus, and QF-PCR has determined a paternal origin of the deletion. aCGH and QF-PCR help to delineate the genomic imbalance in prenatally detected de novo chromosome aberration, and the information acquired is useful for genetic counseling.

  18. 胎儿盆腔肾的产前超声诊断%Prenatal ultrasonic diagnosis of fetal pelvic kidney

    Institute of Scientific and Technical Information of China (English)

    鲁嘉; 孟华; 姜玉新; 刘欣燕; 袁岩; 张一休; 欧阳云淑

    2012-01-01

    Objective To discuss the ultrasound screening method and sonographic features of fetal pelvic kidney. Methods Prenatal sonographic characteristics of 8 fetal pelvic kidneys detected with prenatal ultrasound were retrospectively analyzed according to the autopsy after induction of labor or postnatal follow-up. Results Pelvic kidneys were detected in 8 fetuses with gestation of 22?6 weeks, 4 in left, 3 in right, while 1 was crossed fused kidney. Two fetuses had normal sized, shaped and structural pelvic kidneys, 1 had normal structural but crossed fused right pelvic kidney, 2 had severe hy-dronephrosis with pelvic kidneys, 3 had multicystic kidney dysplasia, 2 in the ipsilateral pelvic kidney and 1 in bilateral kidneys with other multiple abnormalities. Induction of labor was performed for 3 fetuses, and pelvic kidney was confirmed in 2 with histopathological examination. After birth, pelvic kidney was confirmed with follow-up in 3 of 4 newborns. One fetus was still in pregnancy. Conclusion In fetuses with unilateral empty renal fossa, attention should be paid to find the pelvic kidney. Color Doppler ultrasonic depiction of renal artery is important for the diagnosis of fetal pelvic kidney.%目的 探讨胎儿盆腔肾的超声筛查方法和声像图特点.方法 回顾性分析经产前超声诊断的8胎胎儿盆腔肾的声像图特征,并结合引产后尸体检查病理结果及出生后随访复查等进行分析.结果 盆腔肾胎儿8胎,胎龄22~36周;左肾4胎,右肾3胎,交叉融合肾1胎.2胎盆腔肾形态结构正常,1胎交叉融合肾结构正常;2胎盆腔肾合并肾积水;3胎盆腔肾合并多囊性肾发育不良,2胎为同侧,1胎为双侧并多发畸形.8胎中,引产3胎,2胎经病理检查证实;4胎出生,其中3胎经出生后复查证实,1胎失访;1胎尚在孕期随访中.结论 对于单侧肾窝肾缺失的胎儿,应注意寻找异位盆腔肾.彩超显示肾动脉对诊断胎儿盆腔肾有重要提示作用.

  19. Diagnosis for choroideremia in a large Chinese pedigree by next-generation sequencing (NGS) and non-invasive prenatal testing (NIPT)

    Science.gov (United States)

    Zhu, Li; Cheng, Jingliang; Zhou, Boxu; Wei, Chunli; Yang, Weichan; Jiang, Dong; Ijaz, Iqra; Tan, Xiaojun; Chen, Rui; Fu, Junjiang

    2017-01-01

    To develop an effective strategy to isolate and use cell-free fetal DNA (cffDNA) for the combined use of next-generation sequencing (NGS) for diagnosing choroideremia and non-invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X-linked recessive disease, choroideremia, was recruited. Cell-free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification. A nonsense mutation (c.C799T:p.R267X) of the CHM gene on the X chromosome of the proband (IV:7) and another 5 males with choroideremia were detected, while 3 female carriers with no symptoms were also identified. The fetus (VI:7) was identified as female from the cffDNA, and the same heterozygous nonsense mutation present in her mother was also confirmed. At one and a half years of age, the female baby did not present with any associated symptoms of choroideremia. Therefore, cffDNA was successfully used for the combined use of NGS for diagnosing choroideremia in a large Chinese pedigree, and NIPT for Y chromosome determination. This approach should result in a markedly increased use of prenatal diagnosis and improvement, and more sophisticated clinical management of diseases in China and other developing countries. The establishment of a highly accurate method for prenatal gene diagnosis will allow for more reliable gene diagnosis, improved genetic counseling, and personalized clinical management of our patients. PMID:28098911

  20. Application Value of Amniotic Cell Culture in the Prenatal Diagnosis%羊水细胞培养在产前诊断中的应用价值

    Institute of Scientific and Technical Information of China (English)

    张赫

    2016-01-01

    目的:探讨羊水细胞培养在产前诊断中的应用价值。方法整群选取2010年5月—2015年10月在医院进行产前诊断的216例高危孕妇,给予羊膜穿刺和羊水细胞培养后分析染色体核型。结果所有孕妇穿刺成功率为99.1%,经过羊水细胞培养后,211例为正常核型,占97.7%,5例为异常核型,占2.3%。结论对孕妇进行羊水细胞培养在产前诊断中意义重大,可以预防先天性缺陷患儿的发生,提高新生儿质量,值得应用。%Objective To discuss the application value of amniotic cell culture in the prenatal diagnosis. Methods 216 cas-es of high risk pregnant women with prenatal diagnosis treated in our hospital from May 2010 to October 2015 were select-ed, and the chromosome karyotypes were analyzed after giving amniocentesis and amniotic cell culture. Results The success rate of amniocentesis of all pregnant women was 99.1%, 211 cases were normal karyotypes, accounting for 97.7%, 5 cases were abnormal karyotypes, accounting for 2.3%. Conclusion Amniotic cell culture in the prenatal diagnosis is of great sig-nificance, which can prevent the occurrence of children with congenital defects and improve the quality of newborns, and it is worth application.

  1. Cytological diagnosis of Langerhans cell histiocytosis with cutaneous involvement

    Directory of Open Access Journals (Sweden)

    Sushama A Chandekar

    2013-01-01

    Full Text Available Langerhans cell histiocytosis (LCH is a rare disease affecting predominantly children. The course of the disease varies, from spontaneous resolution to a progressive multisystem disorder with organ dysfunction and potential life-threatening complications. Diagnosis of LCH is often difficult and may be delayed because of its rarity and especially so if it occurs with unusual presentation. Fine needle aspiration cytology of a 4 year old male child, a case of LCH is presented with a purpose of highlighting the characteristic cytological features. A high index of suspicion, awareness of characteristic cytological features of LCH and its differential diagnoses is necessary. This can obviate the need of biopsy and electron microscopy. Immunohistochemistry if available can be performed on cytology smear and cell block.

  2. Maternal glucocorticoid elevation and associated blood metabonome changes might be involved in metabolic programming of intrauterine growth retardation in rats exposed to caffeine prenatally

    Energy Technology Data Exchange (ETDEWEB)

    Kou, Hao; Liu, Yansong; Liang, Gai; Huang, Jing; Hu, Jieqiong; Yan, You-e; Li, Xiaojun [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071 (China); Yu, Hong; He, Xiaohua; Zhang, Baifang [Hubei Provincial Key Laboratory of Developmentally Originated Diseases, Wuhan 430071 (China); Zhang, Yuanzhen [Hubei Provincial Key Laboratory of Developmentally Originated Diseases, Wuhan 430071 (China); Center for Reproductive Medicine, Zhongnan Hospital of Wuhan University, Wuhan 430071 (China); Feng, Jianghua, E-mail: jianghua.feng@xmu.edu.cn [Department of Electronic Science, Fujian Provincial Key Laboratory of Plasma and Magnetic Resonance, Xiamen University, Xiamen 361005 (China); Wang, Hui, E-mail: wanghui19@whu.edu.cn [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071 (China); Hubei Provincial Key Laboratory of Developmentally Originated Diseases, Wuhan 430071 (China)

    2014-03-01

    Our previous studies demonstrated that prenatal caffeine exposure causes intrauterine growth retardation (IUGR), fetuses are over-exposed to high levels of maternal glucocorticoids (GC), and intrauterine metabolic programming and associated metabonome alteration that may be GC-mediated. However, whether maternal metabonomes would be altered and relevant metabolite variations might mediate the development of IUGR remained unknown. In the present studies, we examined the dose- and time-effects of caffeine on maternal metabonome, and tried to clarify the potential roles of maternal GCs and metabonome changes in the metabolic programming of caffeine-induced IUGR. Pregnant rats were treated with caffeine (0, 20, 60 or 180 mg/kg · d) from gestational days (GD) 11 to 20, or 180 mg/kg · d caffeine from GD9. Metabonomes of maternal plasma on GD20 in the dose–effect study and on GD11, 14 and 17 in the time–course study were analyzed by {sup 1}H nuclear magnetic resonance spectroscopy, respectively. Caffeine administration reduced maternal weight gains and elevated both maternal and fetal corticosterone (CORT) levels. A negative correlation between maternal/fetal CORT levels and fetal bodyweight was observed. The maternal metabonome alterations included attenuated metabolism of carbohydrates, enhanced lipolysis and protein breakdown, and amino acid accumulation, suggesting GC-associated metabolic effects. GC-associated metabolite variations (α/β-glucoses, high density lipoprotein-cholesterol, β-hydroxybutyrate) were observed early following caffeine administration. In conclusion, prenatal caffeine exposure induced maternal GC elevation and metabonome alteration, and maternal GC and relevant discriminatory metabolites might be involved in the metabolic programming of caffeine-induced IUGR. - Highlights: • Prenatal caffeine exposure elevated maternal blood glucocorticoid levels. • Prenatal caffeine exposure altered maternal blood metabonomes. • Maternal

  3. Prenatal diagnosis of interstitial deletion of 17(p11.2p11.2) (Smith-Magenis Syndrome)

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1994-01-15

    Interstitial deletion of 17p11.2 is associated with Smith-Magenis syndrome. This is a recognizable chromosomal deletion syndrome, characterized by brachycephaly, midface hypoplasia, growth and mental retardation, behavioral problems, and ocular abnormalities. Molecular analysis indicates it is a contiguous gene syndrome. Over 50 patients have been reported since the deletion was first described by Smith et al. [1982]. Cases include one with mosaicism and a familial example. None were prenatally diagnosed. The authors report on the prenatal detection of interstitial deletion of 17p11.2. 11 refs., 1 fig.

  4. Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization

    Directory of Open Access Journals (Sweden)

    Pietro Cignini

    2011-09-01

    Full Text Available A fetus with de novo ring chromosome 16 is presented. At 20 weeks' gestation, ultrasound examination demonstrated bilateral clubfoot, bilateral renal pyelectasis, hypoplasia of the corpus callosum, and transposition of the great vessel. Amniocentesis was performed. Chromosome analysis identified a ring chromosome 16 [47,XY,r(16] and array comparative genomic hybridization (a-CGH demonstrated that the ring included the euchromatic portion 16p11.2. Postmortem examination confirmed prenatal findings. This is the first case of de novo ring chromosome 16 diagnosed prenatally with a new phenotypic pattern and also reinforces the importance of offering amniocentesis with a-CGH if fetal anomalies are detected.

  5. Prenatal diagnosis of conjoined twins by magnetic resonance imaging: report of two cases; Diagnostico pre-natal de gemeos unidos com uso da ressonancia nuclear magnetica: relato de dois casos

    Energy Technology Data Exchange (ETDEWEB)

    Souza, Alex Sandro Rolland de; Medeiros, Cynthia Coelho de; Lins, Glaucia Virginia de Queiroz [Instituto Materno Infantil Professor Fernando Figueira (IMIP), Recife, PE (Brazil); Noronha Neto, Carlos [Centro Integrado de Saude Amaury de Medeiros (CISAM), Recife, PE (Brazil); Lima, Marcelo Marques de Souza [Universidade Federal de Sao Paulo (UNIFESP/EPM), Sao Paulo, SP (Brazil)]. E-mail: alexrolland@uol.com.br

    2006-07-15

    Conjoined twins have a rare prevalence and special curiosity among physicians and the general population. The reported frequency varies from 1:50,000 to 1:200,000 pregnancies. Its early diagnosis becomes very important when we think about pregnancy management, method of delivery and neonatal care. We describe two cases of conjoined twins diagnosed by ultrasound and magnetic resonance during prenatal care with the aim to better studying the fetus anatomy. The first conjoined twins were cephalopagus sharing head, thorax and abdominal wall and with two pelvis and four arms and four legs. The second were thoracopagus, united by thorax and part of abdomen. Magnetic resonance imaging contribution was not important to diagnose conjoined twins. However, it was useful to describe the shared organs, contributing to define fetal outcome. (author)

  6. [A community-based genetic screening of large-scale population and prenatal diagnosis for alpha and beta thalassemia in Zhuhai city of Guangdong province].

    Science.gov (United States)

    Zhou, Yu-qiu; Mo, Qiu-hua; Lu, Jin-han; Li, Li-yan; Liang, Xiong; Jia, Shi-qi; Xiao, Ge-fei; Zhou, Wan-jun; Xiao, Qi-zhi; Xu, Xiang-min

    2008-06-01

    To describe a community-based model for prevention and control of severe alpha and beta thalassemias in Zhuhai city of Guangdong province. Couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled in this prospective screening program, which was supported by the two-level network composed of 6 local hospitals for testing thalassemias and follow-up for genetic counseling. A conventional heterozygote screening strategy was used to determine alpha and beta thalassemia traits in women and their partners according to the standard procedures of hematological phenotype analysis. Then confirmative diagnosis of alpha and beta thalassemia was performed on those couples suspected at-risk for severe thalassemia by using the PCR-based molecular diagnostic assays. The couples at-risk for severe thalassemia were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus. During the period between January 1998 and December 2005, the screened records included 85522 young females and their partners for premarital screening and 10439 pregnant women for prenatal screening, with 71.38% coverage of total population recorded in this city for premarital screening. Six thousands five hundreds and sixty-three individuals in total were found to be the carriers of thalassemias, with 4312 for alpha thalassemia (4.5%) and 2251 for beta thalassemia (2.3%), respectively. One hundred and forty-eight couples were diagnosed to be at-risk for thalassemias, including 103 for alpha thalassemia and 45 for beta thalassemia, respectively. Successful prenatal diagnosis was made for 142 (98 for alpha thalassemia and 44 for beta thalassemia) out of 148 (95.9%) pregnancies at-risk for severe thalassemias. Twenty-three cases of hydrops fetalis, 4 of Hb H diseases and 14 of beta thalassemia were identified. All 41 pregnancies with affected fetuses were voluntarily terminated. Thus, this has led to a marked decrease of severe

  7. 326 cases of early pregnancy chorionic biopsy prenatal diagnosis analysis%326例早孕期绒毛膜活检产前诊断分析

    Institute of Scientific and Technical Information of China (English)

    马京梅; 潘虹; 孙瑜; 付杰; 于丽; 杨慧霞

    2015-01-01

    目的:探讨早孕期绒毛膜活检( chorionic villus sampling,CVS)在产前诊断不同指征的应用价值及其安全性。方法对2012年1月至2014年12月在本院早孕期CVS进行回顾性分析,比较不同产前诊断指征构成、CVS手术并发症、培养成功率及结果。结果3年间326例早孕期CVS术中,指征以超声异常最为多见(144/326,44.2%),其次是单基因病家族史(79/326,24.2%)、不良孕产史(52/326,15%)和孕妇高龄(40/326,12.1%)。近远期随访并发症仅发现1例“单基因病家族史”指征孕妇术后6个月发生不明原因胎死宫内。绒毛行基因分析及荧光原位杂交技术检查均成功,绒毛行核型分析,总体成功率为95.7%(312/326),从2012~2014年成功率逐年提高(3年分别为91.0%、93.5%、98.3%)。染色体核型分析发现35例染色体异常(11.2%,35/312),其中32例产前诊断指征为“超声异常”(32/144,22.2%),以“单基因病家族史”指征者亦发现2例染色体异常(2/79,2.5%),不良孕产史1例染色体异常(1/52,1.9%)。结论早孕期CVS产前诊断适用于已知胎儿遗传疾病高风险孕妇,安全有效,但均应同时进行核型分析除外可能染色体异常。%Objective To explore the value and safety of first trimester chorionic villus sampling ( CVS) for different indications of prenatal diagnosis. Method A retrospective study was conducted in Peking University First Hospital from January 2012 to December 2014. The proportion of different prenatal diagnosis indications, procedure-related complications, report rate and result of karyotyping were analyzed. Result During the three-year period all 326 CVS cases were involved. The proportion of “abnormal ultrasound findings” was the highest (144/326, 44. 2%), fol-lowed by “family history of single gene disorders” (79/326,24. 2%), “negative reproductive history” (52/326, 15%),“advanced maternal age” (40/326,12. 1%). The follow-up record for safety evaluation found one

  8. Prenatal diagnosis of isolate fetal cleft palate by two-dimensional ultrasonography%单纯腭裂的产前二维超声诊断

    Institute of Scientific and Technical Information of China (English)

    张忠路; 王聪; 安霞; 王少春; 陈东风; 崔雪梅

    2015-01-01

    Objective To discussion the value of palate standard section in prenatal ultrasound diagnosis of isolate cleft palate,and summarize the two-dimensional ultrasound characteristics of isolate cleft palate.Methods Two-dimensional ultrasound was performed in 1 8 073 fetuses during 1 8 to 40 gestational weeks of pregnancy.Fetal palate structure were scanned through the oral cleft,the cheek,the neck part,and the standard sagittal section,transverse section and coronal section were obtained to diagnosis cleft palate. The results were compared with labour or postpartum findings.Results In 1 8 073 cases,20 cases of isolate cleft palate,1 9 cases were diagnosed as fetal isolate cleft palate by prenatal ultrasonography,of which 1 8 cases were correctly diagnosed,1 case was misdiagnosed,1 case was missed diagnosed.The sensitivity, specificity,accuracy of prenatal ultrasound detection were 95%,100%,95%,respectively.The ultrasonic characteristics of isolate cleft palate:lack of crack were located in the midline,soft cleft palate was shown as the midline of soft palate interrupted,short of crack was“><”、“‖”、“/\\”形,硬腭裂表现为硬腭正中回声中断,缺裂呈倒“U”形或倒“V”形。结论腭的标准切面在单纯腭裂的产前超声诊断中具有较高的应用价值,可评估裂隙形态、长度、宽度、走向、累及范围等。

  9. Amniotic cells culture and its application in the prenatal diagnosis%孕中期羊水细胞培养及其在产前诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    武其文; 范含萍; 江峰; 浦春

    2012-01-01

    Objective :To explore an amniotic cell culture technology with higher harvests and verify its validity in prenatal diagnosis. Methods : The amniotic fluid samples were obtained in 238 pregnant women with gesta-tional weeks of 16 to 30 and indications for prenatal diagnosis by aseptic amniocentesis and cultured for determination of the chromosome karyo-type. In real performance, moderate improvement was done to the sample collection,cell inoculation and harvesting as well as aspects involved in the procedures. Results: Amniotic cells were finally cultured in 231 of 238 cases( 97. 1% )whose abnormalities were identified in 8( 3. 5% )in which 6 were abnormal number of chromosomes, 1 mosaic and another 1 , chromosomal balance translocation. Conclusion-. The modified amniotic cell culturing technique for kargotyping is effective in prenatal diagnosis of fetal chromosomal disease for its safety and reliability.%目的:探索一种具有较高培养成功率的羊水细胞培养技术及其在产前诊断中的应用.方法:238例孕16~30周且有产前诊断指征的孕妇,在无菌条件下行羊膜腔穿刺术采集羊水进行细胞培养和染色体核型分析.实验过程对标本的采集、细胞接种收获和制片等环节进行了改进.结果:238例孕妇羊水成功培养231例,成功率97.1%,发现染色体异常核型8例,异常率占3.5%;其中染色体数目异常6例,嵌合体1例,平衡易位1例.结论:改进后的羊水细胞培养染色体核型分析技术是孕中期产前诊断胎儿染色体病的一种安全、有效、可靠的方法.

  10. Prenatal Diagnosis and Genetic Analysis of a Fetus with 47,XX, +21/46,XX Mosaicism and XX/XY Chimerism

    Directory of Open Access Journals (Sweden)

    Hsiao-Lin Hwa

    2006-01-01

    Full Text Available Prenatal diagnosis of simultaneous occurrence of chimerism and autosomal mosaicism is extremely rare. We report the prenatal diagnosis and genetic analysis of a fetus in a twin pregnancy with mosaic 47,XX,+21/46,XX with chimeric XX/XY. A 36-year-old, para 1, woman was referred for genetic counseling at 20 weeks' gestation because of abnormal karyotype (47,XX,+21/46,XX in one fetus in a twin pregnancy. Cordocentesis revealed 47,XX,+21[3]/46,XX[35]/46,XY[7] in this fetus. Postnatal cytogenetic analysis of cord blood confirmed three cell lines in this twin (A and 46,XY in the co-twin (B. Postmortem pathologic findings of both fetuses were normal. Fluorescence in situ hybridization identified three cell lines in the cord blood of twin A. Molecular genetic analysis using polymorphic DNA markers revealed parental origin of fetal tissue, and confirmed the chimeric status. Molecular genetic analysis with polymorphic DNA markers help to differentiate chimerism from mosaicism and define the origin of cell lines, which may have importance in genetic counseling.

  11. Cell-free fetal DNA and intact fetal cells in maternal blood circulation: implications for first and second trimester non-invasive prenatal diagnosis.

    Science.gov (United States)

    Bischoff, Farideh Z; Sinacori, Mina K; Dang, Dianne D; Marquez-Do, Deborah; Horne, Cassandra; Lewis, Dorothy E; Simpson, Joe Leigh

    2002-01-01

    Both intact fetal cells as well as cell-free fetal DNA are present in the maternal circulation and can be recovered for non-invasive prenatal genetic diagnosis. Although methods for enrichment and isolation of rare intact fetal cells have been challenging, diagnosis of fetal chromosomal aneuploidy including trisomy 21 in first- and second-trimester pregnancies has been achieved with a 50-75% detection rate. Similarly, cell-free fetal DNA can be reliably recovered from maternal plasma and assessed by quantitative PCR to detect fetal trisomy 21 and paternally derived single gene mutations. Real-time PCR assays are robust in detecting low-level fetal DNA concentrations, with sensitivity of approximately 95-100% and specificity near 100%. Comparing intact fetal cell versus cell-free fetal DNA methods for non-invasive prenatal screening for fetal chromosomal aneuploidy reveals that the latter is at least four times more sensitive. These preliminary results do not support a relationship between frequency of intact fetal cells and concentration of cell-free fetal DNA. The above results imply that the concentration of fetal DNA in maternal plasma may not be dependent on circulating intact fetal cells but rather be a product of growth and cellular turnover during embryonic or fetal development.

  12. Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss

    Institute of Scientific and Technical Information of China (English)

    Jianzhong Li; Dongyi Han; Huijun Yuan; Jing Cheng; Yanping Lu; Yu Lu; Aiting Chen; Yi Sun; Dongyang Kang; Xin Zhang; Pu Dai

    2010-01-01

    We present the clinical and genetic findings for a Chinese family with X-linked non-syndromic hearing loss in which the affected males showed congenital profound sensorineural hearing impairment. In two affected brothers, the computer tomography of temporal bone showed bilateral dilation of the internal auditory canal with fistulous communication between the lateral canal and the basal cochlear turn, which is consistent with the typical DFNX2 phenotype. A missense mutation (c.647G→A) in the POU3F4 gene caused a substitution from glycine to glutamic acid at position 216 (p.G216E), and this mutation was found to consistently cosegregate with the deafness phenotype in the family. The mutation resulted in the loss of function of the POU3F4 by decreasing the affinity between the protein and DNA, as shown in silico by the structural analysis. Prenatal diagnosis of pregnant proband of this family revealed the C.647G→A mutation in DNA extracted from the amniotic fluid surrounding the fetus. The appropriate use of genetic testing and prenatal diagnosis plays a key role in reducing the recurrence of genetic defects in high-risk families.

  13. Prenatal Diagnosis Procedures and Techniques to Obtain a Diagnostic Fetal Specimen or Tissue: Maternal and Fetal Risks and Benefits.

    Science.gov (United States)

    Wilson, R Douglas; Gagnon, Alain; Audibert, François; Campagnolo, Carla; Carroll, June; Brock, Jo-Ann; Chong, Karen; Johnson, Jo-Ann; MacDonald, William; Okun, Nanette; Pastuck, Melanie; Vallee-Pouliot, Karine

    2015-07-01

    pathologie de possibles anomalies fœtales. Résultats : La littérature publiée a été récupérée par l’intermédiaire de recherches menées dans Medline, PubMed et The Cochrane Library jusqu’en juin 2014 au moyen d’un vocabulaire contrôlé (« prenatal diagnosis », « amniocentesis », « chorionic villi sampling », « cordocentesis ») et de mots clés (« prenatal screening », « prenatal genetic counselling », « post-procedural pregnancy loss rate ») appropriés. Les résultats ont été restreints aux analyses systématiques, aux études observationnelles et aux essais comparatifs randomisés / essais cliniques comparatifs publiés en anglais entre janvier 1985 et juin 2014. Les recherches ont été mises à jour de façon régulière et intégrées à la directive clinique jusqu’en juin 2014. La littérature grise (non publiée) a été identifiée par l’intermédiaire de recherches menées dans les sites Web d’organismes s’intéressant à l’évaluation des technologies dans le domaine de la santé et d’organismes connexes, dans des collections de directives cliniques, dans des registres d’essais cliniques et auprès de sociétés de spécialité médicale nationales et internationales. Valeurs : La qualité des résultats a été évaluée au moyen des critères décrits dans le rapport du Groupe d’étude canadien sur les soins de santé préventifs (Tableau). Avantages, désavantages et coûts : Consentement éclairé de la patiente, transfert des connaissances, évaluation du risque génétique prénatal, soulagement de l’anxiété, création d’anxiété, défense des droits, compréhension du dépistage fœtal, limites du dépistage fœtal, choix en matière de prise en charge de la grossesse, complication de la grossesse ou fausse couche, soins opportuns et améliorés pour l’accouchement d’un enfant présentant une morbidité reconnue. Recommandations 1. Les fournisseurs de soins de santé devraient

  14. Congenital dacryocystocele: prenatal MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Yazici, Zeynep [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Uludag University, Department of Radiology, Faculty of Medicine, Bursa (Turkey); Kline-Fath, Beth M.; Rubio, Eva I.; Calvo-Garcia, Maria A.; Linam, Leann E. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Yazici, Bulent [Uludag University, Department of Ophthalmology, Faculty of Medicine, Bursa (Turkey)

    2010-12-15

    Congenital dacryocystocele can be diagnosed prenatally by imaging. Prenatal MRI is increasingly utilized for fetal diagnosis. To present the radiological and clinical features of seven fetuses with congenital dacryocystocele diagnosed with prenatal MRI. The institutional database of 1,028 consecutive prenatal MR examinations performed during a period of 4 years was reviewed retrospectively. The cases of congenital dacryocystocele were identified by reading the report of each MRI study. The incidence of dacryocystocele diagnosed with prenatal MRI was 0.7% (n=7/1,028). The dacryocystocele was bilateral in three fetuses. Mean gestational age at the time of diagnosis was 31 weeks. The indication for prenatal MRI was the presence or the suspicion of central nervous system abnormality in six fetuses and diaphragmatic hernia in one. Dacryocystocele was associated with an intranasal cyst in six of ten eyes. Prenatal sonography revealed dacryocystocele in only two of seven fetuses. Of eight eyes with postnatal follow-up, four did not have any lacrimal symptoms. Prenatal MRI can delineate congenital dacryocystocele more clearly and in a more detailed fashion than ultrasonography. Presence of dacryocystocele was symptomatic in only 50% of our patients, supporting that prenatal diagnosis of dacryocystocele might follow a benign course. (orig.)

  15. Prenatal ultrasonic diagnosis of fetal lacrimal sac cyst%产前超声诊断胎儿泪囊囊肿

    Institute of Scientific and Technical Information of China (English)

    黄苑铭; 黄冬平; 梁耀佳; 邹鹏; 陈丹; 马小燕

    2012-01-01

    目的 探讨产前超声诊断胎儿泪囊囊肿的价值.方法 回顾性分析12胎产前超声诊断为胎儿泪囊囊肿的声像图特征,并追踪其妊娠结局.结果 产前超声检出12胎胎儿泪囊囊肿,孕周为26~36周,其中双侧3胎,单侧9胎.泪囊囊肿典型超声声像图表现为眼眶内下方见囊性无回声.6胎囊肿产前自行消失;1胎经终止妊娠后确定存在泪囊囊肿2胎分娩后囊肿自行消失;1胎分娩后因新生儿呼吸窘迫而接受外科手术治疗;2胎失访.结论 胎儿泪囊囊肿有其特征性超声表现,正确诊断有利于指导临床工作.%To explore the value of prenatal ultrasound in diagnosis of lacrimal sac cyst. Methods Prenatal ultrasonic features of 12 fetuses with fetal lacrimal sac cyst were retrospectively analyzed, and the pregnancy outcomes were followed up. Results Twelve fetuses of fetal lacrimal sac cyst were detected with prenatal ultrasound, and their gestational age ranged from 26 to 36 weeks. Among these fetuses, lacrimal sac cyst was bilateral in 3 fetuses and unilateral in 9 fetuses. The typical ultrasonic feature of lacrimal sac cyst was cystic mass without echo in medial and inferior orbit. The lacrimal sac cyst resolved spontaneously prenatally in 6 fetuses. One lacrimal sac cyst was determined after termination of pregnancy. Two lacrimal sac cyst resolved spontaneously after delivery. The lacrimal sac cyst disappeared in one newborn after receiving surgical intervention for respiratory distress syndrome after delivery. Two fetuses were lost during follow-up. Conclusion Fetal lacrimal sac cyst has characteristic ultrasonic appearances. Correct diagnosis is valuable for guiding clinical work.

  16. Analysis of balanced translocation at amniocentesis on prenatal diagnosis%羊水染色体平衡易位在产前诊断中的分析

    Institute of Scientific and Technical Information of China (English)

    罗小金; 胡亮; 冉健; 魏凤香

    2015-01-01

    Objective To explore the prenatal indications and pregnant outcome of balanced transloca-tion at amniocentesis, so as to provide scientific guidelines of prenatal diagnosis for local pregnant women. Methods Retrospective review was made on 76 cases of balanced translocation at amniocentesis from 2011 to 2015 at our hospital. Results In 76 cases, 38 cases were aged pregnancy prenatally, 20 cases carriers, 9 cas-es abnormal serum screening , 5 cases with previous abnormal births , 2 cases with abnormal ultrasound findings and 2 cases with other problems. Conclusion Balanced translocation concomitant aneuploidy , de novo X-auto-some translocation or de novo complex chromosome rearrangements can cause fetal abnormalities on prenatal di-agnosis. The results of ultrasound, FISH and array-CGH could provide for de novo simple translocation at amnio-centesis.%目的:探讨孕妇羊水染色体平衡易位的产前诊断指征分布及妊娠结局,为本地区的优生提供科学依据.方法:选取2011年2月至2015年3月在本院进行羊水染色体核型分析的76例平衡易位病例进行回顾分析. 结果:76例病例中产前诊断指征为高龄妊娠38例, 夫妇易位携带者20例, 唐氏筛查高风险9例,不良孕产史5例,B超结果异常2例及其他原因2例. 结论:羊水染色体核型平衡易位者可由于伴随非整倍体异常、 新突发X-常染色体易位及复杂易位而导致胎儿畸形. 新突发简单易位需依据B超、FISH 及array-CGH详细结果给予准确妊娠指导.

  17. Comparative Evaluation of Diagnostic Value of Prenatal USG and MRI in the Diagnosis of Fetal Central Nervous System Defects

    Directory of Open Access Journals (Sweden)

    I. Herman-Sucharska

    2011-05-01

    Full Text Available Background/Objective: The purpose of the study was"nto compare the diagnostic values of prenatal ultrasound"nand MRI in fetal central nervous system defects."nPatients and Methods: Three-hundred eighty-five"nMRIs were performed in pregnant women with the"nultrasound suspicion of fetal defect. US was conducted"nwith the Voluson-Kretz730PRO. In 158 cases (41%"nfetal CNS defect was found. MR was performed with the"n1.5T system, torso surface coil, SSFSET2 sequence. MR"nresults were compared with prenatal US and verified"nafter the delivery by physical tests, US, TK and surgery"nor in cases of infant death with a pathomorphological"nexamination."nResults: Of 158 infants, eight died after delivery, 93 were"nconsulted in the neurosurgical clinic, 19 underwent a"nneurosurgery treatment and the remaining seven infants'"nfate is unknown. Fetal MRI widened the pertinent US"ndiagnoses in 62%. The 100% compliance is pertained"nto hydrocephalus and anencephaly. US results failed"nin some cases of corpus callosum agenesis, aqueductal"nstenosis, intracranial cyst, holoprosencephaly,"nschizencephaly, Dandy-Walker complex, syringomyelia,"ndiplomyelia and myelomeningocele. In 15 cases, MRI"ncompletely changed the prognosis and treatment"n(holoprosencephaly, myelomeningocoele, diplomyelia,"nintracranial cyst, lung hypoplasia, urinary bladder"nagenesis-not detected during prenatal US. Postnatal"nexaminations and surgery confirmed the results of"nprenatal MRI."nConclusion: MRI compared with prenatal US proved"nbetter effectiveness in imaging of fetal CNS defects,"nespecially in the imaging of the posterior fossa structures,"nthe ventricular system, the corpus callosum, the"nevaluation of meningocoele contents and the complex"nmalformations of the central nervous system.

  18. Prenatal ultrasound diagnosis and outcome of placenta previa accreta after cesarean delivery: a systematic review and meta-analysis.

    Science.gov (United States)

    Jauniaux, Eric; Bhide, Amar

    2017-07-01

    Women with a history of previous cesarean delivery, presenting with a placenta previa, have become the largest group with the highest risk for placenta previa accreta. The objective of the study was to evaluate the accuracy of ultrasound imaging in the prenatal diagnosis of placenta accreta and the impact of the depth of villous invasion on management in women presenting with placenta previa or low-lying placenta and with 1 or more prior cesarean deliveries. We searched PubMed, Google Scholar, clinicalTrials.gov, and MEDLINE for studies published between 1982 and November 2016. Criteria for the study were cohort studies that provided data on previous mode of delivery, placenta previa, or low-lying placenta on prenatal ultrasound imaging and pregnancy outcome. The initial search identified 171 records, of which 5 retrospective and 9 prospective cohort studies were eligible for inclusion in the quantitative analysis. The studies were scored on methodological quality using the Quality Assessment of Diagnostic Accuracy Studies tool. The 14 cohort studies included 3889 pregnancies presenting with placenta previa or low-lying placenta and 1 or more prior cesarean deliveries screened for placenta accreta. There were 328 cases of placenta previa accreta (8.4%), of which 298 (90.9%) were diagnosed prenatally by ultrasound. The incidence of placenta previa accreta was 4.1% in women with 1 prior cesarean and 13.3% in women with ≥2 previous cesarean deliveries. The pooled performance of ultrasound for the antenatal detection of placenta previa accreta was higher in prospective than retrospective studies, with a diagnostic odds ratios of 228.5 (95% confidence interval, 67.2-776.9) and 80.8 (95% confidence interval, 13.0-501.4), respectively. Only 2 studies provided detailed data on the relationship between the depth of villous invasion and the number of previous cesarean deliveries, independently of the depth of the villous invasion. A cesarean hysterectomy was performed in

  19. Prenatal ultrasound diagnosis of fetalbody stalk anomaly%胎儿体蒂异常的产前超声诊断

    Institute of Scientific and Technical Information of China (English)

    毛利萍

    2015-01-01

    目的:探讨产前超声诊断胎儿体蒂异常的价值。方法回顾性分析本院产前超声诊断的7例胎儿体蒂异常超声声像图特点及随访结果。结果7例胎儿均合并有多种畸形,7例均有前腹壁严重缺损及腹腔多个脏器外突、脊柱侧弯、脐带过短;6例伴有肢体缺失或肢体畸形;3例合并单脐动脉;4例于宫腔内见羊膜带;2例伴有骶尾部脊柱裂并相应的颅内改变;1例合并有心脏室间隔缺损。7例胎儿中仅2例合并羊水过少。结论产前超声检查是诊断胎儿体蒂异常的可靠方法,值得在临床推广应用。%Objective: To investigate the prenatal ultrasound diagnosis of fetal body stalk anomaly value. Methods A retrospective analysis of our hospital 7 cases of prenatal ultrasound diagnosis of fetal body stalk anomaly ultrasound sonographic features and follow-up results.Results: 7 cases of fetus were combined with multiple malformations, 7 cases were anterior abdominal wall defect of abdominal multiple viscera and severe external condyle, scoliosis, umbilical cord is too short; 6 cases with limb loss or limb malformations; single umbilical artery of 3 cases with; 4 cases in the intrauterine amniotic bands; 2 cases of intracranial with lumbosacral the tail spinal column fracture and the corresponding change ;there were 1 cases with ventricular septal defect. 7 cases of fetal in only 2 of cases witholigohydramnios.Conclusion: Prenatal ultrasound diagnosis of fetal is a reliable method of body stalk anomaly, it is worth to popularize in the clinical application.

  20. Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

    Directory of Open Access Journals (Sweden)

    Sifakis Stavros

    2012-02-01

    Full Text Available Abstract Wolf-Hirschhorn syndrome (WHS is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearrangements lead to a wide spectrum of clinical manifestations. The majority of the reports of prenatally diagnosed WHS cases are associated with large 4p deletions identified by conventional chromosome analysis; however, the widespread clinical use of novel molecular techniques such as array comparative genomic hybridization (a-CGH has increased the detection rate of submicroscopic chromosomal aberrations associated with WHS phenotype. We provide a report of two fetuses with WHS presenting with intrauterine growth restriction as an isolated finding or combined with oligohydramnios and abnormal Doppler waveform in umbilical artery and uterine arteries. Standard karyotyping demonstrated a deletion on chromosome 4 in both cases [del(4(p15.33 and del(4(p15.31, respectively] and further application of a-CGH confirmed the diagnosis and offered a precise characterization of the genetic defect. A detailed review of the currently available literature on the prenatal diagnostic approach of WHS in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided.

  1. 产前超声在诊断胎儿隐性脊柱裂中的价值%Prenatal ultrasound diagnosis of fetal spina bifida occulta

    Institute of Scientific and Technical Information of China (English)

    许玲; 徐延峰; 鞠志叶; 董发进; 胡冰; 接连利; 吴乃森

    2009-01-01

    目的 探讨隐性脊柱裂的超声表现,提高产前超声对此类畸形的认识.方法 回顾性分析9例产前诊断为胎儿隐性脊柱裂的超声表现,并与放射影像学资料对比,总结其声像图特点.结果 产前超声诊断隐性脊柱裂9例,经尸解、X线摄片或出生后MRI证实,8例诊断正确,另1例为显性脊柱裂.胎儿隐性脊柱裂的超声表现具有特征性,其声像图特点为:①胎儿脊柱正常生理弯曲消失;②病变部位椎骨骨化中心排列异常,椎板缺如,椎管开放;③背部皮肤连续完整,无囊状物交出及胎头形状改变.结论 超声检查是诊断隐性脊柱裂的可靠方法.%Objective To investgate the ultrasound appearance of prenatal spina bifida occulta (SBO) to improve the recognition of this kind of abnormality. Methods A total of 9 cases of SBO which were diagnosticated by prenatal ultrasound were reviewed retrospectively. The results were compared with radiological and pathological results. Results Prenatal ultrasound diagnosed 9 SBO cases, which were confirmed by autopsy, X-ray or MRI (8 SBO cases and 1 spinal bifida manifesta cases). The sonogram features of SBOwere the disaooearance of physiological curvature of spine,abnormal arrangement of intravertebral body in diseased region, the absence of vertebral plate with opening vertebral arch, and the normal skin outline on the back, with out outstanding cyst or the skull Conclusion Prenatal ultrasound is a reliability method in the diagnosis of SBO.

  2. Prenatal parenting.

    Science.gov (United States)

    Glover, Vivette; Capron, Lauren

    2017-06-01

    Parenting begins before birth. This includes prenatal maternal and paternal bonding with the baby, and biological effects on fetal development. Recent research has confirmed how prenatal maternal stress can alter the development of the fetus and the child, and that this can persist until early adulthood. Children are affected in different ways depending, in part, on their own genetic makeup. The fetus may also have a direct effect on prenatal maternal mood and later parenting behaviour via the placenta. The father is important prenatally too. An abusive partner can increase the mother's prenatal stress and alter fetal development, but he can also be an important source of emotional support. New research suggests the potential benefits of prenatal interventions, including viewing of prenatal scans and cognitive behavioural therapy. Copyright © 2017 Elsevier Ltd. All rights reserved.

  3. Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis.

    Science.gov (United States)

    Fogu, G; Bertini, V; Dessole, S; Bandiera, P; Campus, P M; Capobianco, G; Sanna, R; Soro, G; Montella, A

    2004-05-01

    We report the results of a molecular study of a large family segregating the complete form of the Androgen Insensitivity Syndrome (CAIS) in several family members from three generations. We identified the mutant allele by polymerase chain reaction (PCR) amplification of the short tandem repeat (CAG)n, highly polymorphic in the population, present in the first exon of the androgen receptor (AR) gene. In this family four different alleles were detected and one of these showed a perfect segregation with the disease. This study enabled us to identify the heterozygous females in this family. We think that this simple, indirect test, is also suitable for prenatal diagnosis of Morris' syndrome when the mother is heterozygous for the size of the short tandem repeat and one affected subject in the family may be studied.

  4. Prenatal magnetic resonance imaging as a useful adjunctive to ultrasound-enhanced diagnosis in case of a giant foetal tumour of the neck.

    Science.gov (United States)

    Mittermayer, C; Brugger, P C; Lee, A; Horcher, E; Hayde, M; Bernaschek, G; Prayer, D

    2005-02-01

    Large cervical masses in the prenatal period are rare and can cause life threatening situations after birth. All available diagnostic techniques should therefore be used to determine the best mode of delivery in the case of such malformation. A large cervical mass was detected by ultrasound in a 41-year-old women, gravida 4, para 3, at 29 + 5 weeks of gestation. US imaging was most consistent with the diagnosis of a large cervical teratoma, but it was not possible to sufficiently evaluate the cervical anatomy of the oropharynx and trachea. An MRI scan demonstrated a distorted oropharynx and a trachea displaced to the right and posteriorly, but not detectable from the middle of the neck up to the larynx. Based on these facts, an EXIT procedure was planned and performed at 30 + 5 weeks of gestation. Foetal MRI provided valuable anatomical information for all specialists deciding on the indication and the pre-therapeutic planning of the EXIT procedure.

  5. Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening

    DEFF Research Database (Denmark)

    Miltoft, Caroline Borregaard; Wulff, Camilla B; Kjærgaard, Susanne

    2017-01-01

    INTRODUCTION: The aim was to investigate the parental decisions about prenatal screening and diagnosis among infants with trisomy 21 (T21) in a national cohort with high uptake of combined first-trimester screening (cFTS). MATERIAL AND METHODS: This was a nationwide population-based study including...... alive with T21. The cFTS risk was true-positive, false-negative or not obtained in 21.6, 48.0 and 30.4%, respectively, of these pregnancies. DISCUSSION: In this large national cohort, 4.4 per 10,000 live-born infants had T21. Of 102 infants with T21 from 2009 to 2012, 52.0% were born after the women had...

  6. Low utilization of prenatal and pre-implantation genetic diagnosis in Huntington disease - risk discounting in preventive genetics.

    Science.gov (United States)

    Schulman, J D; Stern, H J

    2015-09-01

    Huntington disease (HD) is a late-onset, fatal neurodegenerative disorder caused by a (CAG) triplet repeat expansion in the Huntingtin gene that enlarges during male meiosis. In 1996 in this journal, one of us (J. D. S.) presented a methodology to perform pre-implantation genetic diagnosis in families at-risk for HD without revealing the genetic status of the at-risk parent. Despite the introduction of accurate prenatal and pre-implantation genetic testing which can prevent transmission of the abnormal HD gene in the family permanently, utilization of these options is extremely low. In this article, we examine the decision-making process regarding genetic testing in families with HD and discuss the possible reasons for the low uptake among this group.

  7. Prenatal diagnosis of partial trisomy 21 associated with maternal balanced translocation 46xx der 21 t(21q;22q with pericentric inversion of chromosome 9.

    Directory of Open Access Journals (Sweden)

    Parmar R

    2003-01-01

    Full Text Available This communication reports prenatal diagnosis of partial trisomy 21 resulting from balanced translocation (21q;22q in a 36-year-old gravida 7, para 1 woman. The lady had only one living child and there was history of recurrent spontaneous first trimester abortions. Triple test was abnormal in the present conception. In addition, the woman had pericentric inversion of chromosome 9, a finding scarcely reported previously with carrier status in Indian literature. A few cytogeneticists consider this as a normal variant. However, many reports in the recent literature link pericentric inversion of chromosome 9 with infertility, recurrent abortions and a number of other abnormal conditions. A review of the relevant literature pertinent to the case is provided.

  8. 唐氏征筛查高危孕妇的快速产前诊断%Rapid prenatal diagnosis for the high risk gravid of Down's screening

    Institute of Scientific and Technical Information of China (English)

    周丽颖; 贾婵维; 余兰; 梁毓; 兰永连; 李颖; 王树玉

    2012-01-01

    目的 通过荧光原位杂交(FISH)技术与细胞学对照,研究FISH对于唐氏征筛查高危患者产前诊断的应用价值.方法 应用国产FISH探针,平行细胞染色体分析进行1637名唐氏征筛查高危孕妇的产前诊断.主要检测21,13,18,X和Y染色体.结果 1637例产前诊断病历,共检出非整倍体异常核型33例,FISH检测与细胞染色体分析结果一致.唐筛高危合并高龄易发生染色体非整倍体异常.结论 荧光原位杂交探针应用于唐氏征筛查高危孕妇检测染色体非整倍体异常结果可靠.%Objective To evaluate the application of fluorescence in situ hybridization (FISH) in prenatal diagnosis of chromosome abnormalities. Meanwhile, cytogenetic karyotype analysis was performed as control. Methods; 5 chromosomes (21, 13, 18, X and Y) were detected with FISH. 1637 patients were selected for prenatal diagnosis. Results; Of all 1637 samples, 33 samples were shown with abnormal karyotypes. Results; Of both FISH and cytogenetic karyotype analysis exhibited extreme concordance of 5 chromosomes. Abnormal karyotypes was common in gravid of high risk of Downs screening with advanced age. Conclusion; FISH probes can effectively detect abnormal karyotypes in high risk gravid of Downs screening.

  9. 胎儿脐血染色体产前诊断临床分析336例%Clinical Analysis of 336 Cases of Prenatal Diagnosis of Fetal Chromosomal Karyotypes of Cording Blood

    Institute of Scientific and Technical Information of China (English)

    何德钦; 徐两蒲; 李英; 林娜; 刘合焜; 林元

    2011-01-01

    目的 探讨妊娠中晚期产前诊断的指征、染色体异常的常见类型及脐血管穿刺术在产前诊断中的应用.方法 收集有产前诊断指征的妊娠中晚期孕妇336例,抽取脐血,检查胎儿染色体核型,分析异常核型类别及其与产前诊断指征的关系.结果 发现异常核型48例(14.3%),其中染色体三体30例(62.5%),包括21三体8例,18三体12例,13三体8例,22三体2例.多发性畸形组染色体三体检出率26.7%(24/90).结论 胎儿发育异常为妊娠中晚期脐血产前诊断的主要指征;染色体三体是该时期的主要异常核型;脐血管穿刺术是妊娠中晚期胎儿染色体产前诊断的主要方法.%Objective To investigate the indications of prenatal diagnosis, common types of the abnormal karyotypes during the second and third trimesters, and to assess the effectiveness of cordocente-sis in the prenatal diagnosis. Methods Cordocentesis -were performed on 336 pregnant women -with different indications of prenatal diagnosis during their 18 to 36 gestational weeks. Fetal chromosomal karyotypes were also examined, and analysed relations between abnormal karyotype and the indications of prenatal diagnosis. Results 48 chromosomal abnormalities (14. 3%) -were detected. Trisomy, the main abnormality, accounted for 62. 5% (30/48) of all abnormalities; there -were 12 -with trisomy 18,8 -with trisomy 21 , 8 with trisomy 13, and 2 with trisomy 22. The highest trisomy chromosomal aberration rate (26. 7%) was detected in the fetuses with multiple abnormalities and minor fetus anatomical abnormalities significantly increase the detectable rate of trisomy 21. Conclusion Fetal abnormalities -were the main indications for prenatal diagnosis. Trisomy is the main type of chromosomal karyotype malformation during the second and third trimesters of pregnancy, and cordocentesis is an important technique for prenatal diagnosis during this period. Ultrasonographic prenatal screening offers access to find

  10. Bibliometic analysis on the prenatal screening and diagnosis of Down' s syndrome in China%国内唐氏综合征产前筛查及诊断研究文献计量分析

    Institute of Scientific and Technical Information of China (English)

    陈云香; 王书平; 王坤; 惠文; 李雪; 吴华章

    2013-01-01

    目的 系统分析国内关于唐氏综合征产前筛查和产前诊断研究的文献,为制定适合我国国情的产前筛查方案提供参考.方法 以“唐氏综合征”或“DS”、“产前筛查”和“产前诊断”为主题词,对中国期刊全文专题数据库等的文献进行检索,检索年限为1987-2012年.并对符合纳入标准的文献进行数据提取和统计分析.结果 检索到符合纳入标准的文献90篇.统计分析结果显示我国产前筛查的策略主要是孕中期的血清学二联筛查,产前诊断的取样方法主要是羊膜腔穿刺,诊断方法主要为染色体核型分析.结论 选择合适的筛查策略及截断值是目前产前筛查的重要研究方向,增加筛查指标及采用孕早期联合筛查将是我国未来产前筛查的趋势.%Objective To systematically analyze the domestic articles about prenatal screening and diagnosis of down's syndrome and provide basis for formulating new prenatal screening plan suitable for current conditions in China. Methods We searched the full text databases of China with subject terms containing "down's syndrome"/ "DS", " prenatal screening" and "prenatal diagnosis" and defining the published year between 1987 and 2012. After that, the data from the articles meeting the criteria was extracted and analyzed statistically. Results Totally 90 articles were included in the study. Statistical analysis showed that the strategy of prenatal screening in China is mainly in the second-trimester with serological double marker screening, prenatal diagnosis sampling method is mainly amniocentesis(AC), diagnosis methods mainly the analysis of the chromosome karyotypes. Conclusions Choosing appropriate screening strategies and truncation value are currently important research directions of prenatal screening, increasing the screening indexes and screening in the first-trimester will be the trend of prenatal screening in the future in China.

  11. 孕妇地中海贫血的产前筛选与诊断%Prenatal screen and diagnosis of thalassemia.

    Institute of Scientific and Technical Information of China (English)

    卢巧云; 徐婉芳

    2011-01-01

    目的 总结在我院进行产前体检者中开展地中海贫血的产前筛选与诊断结果.研究运用血红蛋白分析法进行孕妇产前筛选与诊断的意义.方法 对2 219对夫妇使用血红蛋白定量法结合基因分析,进行常规地中海贫血筛选.从中筛选出双方同为地中海贫血基因携带者的夫妇,建议其进行相关的产前诊断.对同意进行产前诊断的孕早期孕妇,采取其羊水或绒毛样本进行地中海贫血基因诊断;对同意进行产前诊断的孕中晚期孕妇,以B超下穿刺法抽取脐静脉血样进行地中海贫血基因诊断.结果 检查出夫妇一方为轻度α-地中海贫血基因携带者221例,检出率为4.98%;检查出夫妇一方为轻度β-地中海贫血基因携带者133例,检出率为3.00%.检查出双方均为地中海贫血基因携带者共13对,其中同意进行产前诊断的11例,诊断为中、重型地中海贫血胎儿5例.结论 开展孕妇地中海盆血的产前筛选与诊断,可尽早确诊中、重型地中海贫血胎儿,为家庭和社会减轻了负担与痛苦.%Objective To analyze the results of prenatal screen and diagnosis of thalassemia in 4438 pregnant women. Methods Quantitation of hemoglobin and thalassemia genetic analysis were used for screening thalassemia in 2219 couples. The couples carring thalassemia genes were suggested to take some related prenatal examinations. After permission, amniotic fluid or chorionic villi samples, and umbilical vein blood were collected from early and middle - late gestation respectively for the detection of thalassemia gene. Results Mild alpha - thalassemia gene carrier and mild beta - thalassemia gene carrier in one person of the couple were found in 221 cases ( 4.98% ) and 133 cases ( 3.00% ) respectively;thalassemia gene was found in both husband and wife in 13 couples. Of the 13 couples, 11 agreed to make prenatal diagnosis and 5 foetus of them were diagnosed as heavy thalassemia. Conclusion

  12. Analysis of Prenatal diagnosis results of trisomy 18 fetus%18-三体综合征胎儿的产前诊断结果分析

    Institute of Scientific and Technical Information of China (English)

    韩瑾; 何平; 廖灿; 张蒙; 甄理; 杨昕; 潘敏; 李东至; 易翠兴; 袁思敏; 钟慧珠

    2016-01-01

    Objective To assess clinical application of prenatal diagnosis in trisomy 18 during pregnancy.Methods A total of 13 354 cases received invasive prenatal diagnosis at Prenatal Diagnosis Center,Guangzhou Woman and Children′s Medical Center between January 2010 and August 2014. Among them, 95 fetus were diagnosed as trisomy 18.Three prenatal diagnostic methods included chorionic villi biopsy (1 1-13 +6 gestational weeks),amniocentesis (1 6-24 gestational weeks)and percutaneous puncture of umbilical cord (> 24 gestational weeks).The indications of prenatal diagnosis, abnormal karyotype of chromosome of fetus, and ultrasonic abnormal manifestations of 95 cases with trisomy 18 were analyzed.The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Guangzhou Woman and Children′s Medical Center.Informed consent was obtained from each participates.Results ① Indications:46 cases (48.5%)of 95 cases were high risk in the first trimester screening,47 cases (48.4%)were high risk in the second and third trimester,the remaining 2 cases of indications were high risk in non-invasive prenatal test (NIPT)and carriers ofα-thalassemia.Furthermore,among 95 cases with trisomy 18,33 pregnant women underwent chorionic villi biopsy, 46 underwent amniocentesis, and other 1 6 underwent percutaneous puncture of umbrlical cord.② Chromosome karyotypes:except of 91 cases (95.8%)simple karyotype of trisomy 18,4 cases (4.2%)were chromosome mosaic.Among them, 2 cases of mosaic ratio than 20% were found structure abnormalities in the first trimester screening. One in 1 1.0% was high risk in the second trimester screening.One in 8.0% had no findings in the first and second trimester screening,while had fetal growth restriction (FGR)in the third trimester.③ The main ultrasound findings in the first trimester of 38 cases (82.6%)were nuchal translucency (NT)thickening,nasal bone absence or hypoplasia,cystic hygroma,omphalocele and anencephaly, another 40

  13. 胎儿开放性与闭合性脊柱裂的产前诊断及分类%Prenatal diagnosis and classification of open and closed spina bifida

    Institute of Scientific and Technical Information of China (English)

    李胜利; 顾莉莉; 文华轩

    2011-01-01

    近年来产前诊断不断发展,胎儿脊柱裂的筛查指标及方案也在不断更新,脊柱裂的检出率越来越高,但由于产前对脊柱裂的分类尚存在争议,也引发了一系列医疗纠纷.本文综合临床特征与超声表现,明确指出可供产前诊断参考的胎儿脊柱裂的定义与分类,从胚胎发育学角度阐述该畸形的发生发展,总结了一系列具有实用价值的脊柱裂产前诊断与鉴别诊断方法,旨在为产前明确诊断、开展宫内治疗提供参考依据.%Recently, with the development of prenatal diagnosis, the screening index and plan for fetal spina bifida was updated ceaselessly, resulting in a high detection rate of spina bifida. However, a precise prenatal classification of spina bifida was controversial, then a series of medical disputes happened. In this text, the clinical features and ultrasonographic manifestations were integrated, and the definition and classification of spina bifida were explicitly shown which can be used in prenatal diagnosis. We explained the deformity from embryonic development, and summarized a series of methods which is valuable for prenatal and differential diagnosis of spina bifida, to provide referencial basis for prenatal diagnosis and treatment in uterine.

  14. A case of ultrasound-guided prenatal diagnosis of prune belly syndrome in Papua New Guinea--implications for management.

    Science.gov (United States)

    Ome, Maria; Wangnapi, Regina; Hamura, Nancy; Umbers, Alexandra J; Siba, Peter; Laman, Moses; Bolnga, John; Rogerson, Sheryle; Unger, Holger W

    2013-05-07

    Prune belly syndrome is a rare congenital malformation of unknown aetiology and is characterised by abnormalities of the urinary tract, a deficiency of abdominal musculature and bilateral cryptorchidism in males. We report a case of prune belly syndrome from Papua New Guinea, which was suspected on pregnancy ultrasound scan and confirmed upon delivery. A 26-year-old married woman, Gravida 3 Para 2, presented to antenatal clinic in Madang, Papua New Guinea, at 21(+5) weeks' gestation by dates. She was well with no past medical or family history of note. She gave consent to participate in a clinical trial on prevention of malaria in pregnancy and underwent repeated ultrasound examinations which revealed a live fetus with persistent megacystis and anhydramnios. Both mother and clinicians agreed on conservative management of the congenital abnormality. The mother spontaneously delivered a male fetus weighing 2010 grams at 34 weeks' gestation with grossly abnormal genitalia including cryptorchidism, penile aplasia and an absent urethral meatus, absent abdominal muscles and hypoplastic lungs. The infant passed away two hours after delivery. This report discusses the implications of prenatal detection of severe congenital abnormalities in PNG. This first, formally reported, case of prune belly syndrome from a resource-limited setting in the Oceania region highlights the importance of identifying and documenting congenital abnormalities. Women undergoing antenatal ultrasound examinations must be carefully counseled on the purpose and the limitations of the scan. The increasing use of obstetric ultrasound in PNG will inevitably result in a rise in prenatal detection of congenital abnormalities. This will need to be met with adequate training, referral mechanisms and better knowledge of women's attitudes and beliefs on birth defects and ultrasound. National medicolegal guidance regarding induced abortion and resuscitation of a fetus with severe congenital abnormalities may

  15. Prenatal exclusion of the HHH syndrome.

    Science.gov (United States)

    Gray, R G; Green, A; Hall, S; McKeown, C

    1995-05-01

    Prenatal diagnosis of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria syndrome is described by the analysis of ornithine incorporation in second-trimester cultured amniotic fluid cells. An unaffected fetus was predicted and confirmed in the newborn child. This is the third reported prenatal diagnosis for this disorder and the second predicting an unaffected fetus.

  16. 产前超声诊断全前脑畸形的价值%The value of prenatal ultrasound diagnosis of holoprosencephaly.

    Institute of Scientific and Technical Information of China (English)

    胡翔

    2015-01-01

    Objective:To analyze the application value of prenatal ultrasonography in diagnosis of fetal holoprosencephaly. Methods:From 2009 May to 2014 year in August in our hospital for prenatal ultrasound diagnosis for clinical data of 20 cases of pregnant women of fetal holoprosencephaly. Were analyzed retrospectively, observation of fetal intracranial structure, ring structure and blood flow of the brain artery of Willis, the facial organs and other organs combined anomalies. Results:In 20 cases of fetal holoprosencephaly, 12 cases with alobar holoprosencephaly, 7 cases with semilobar holoprosencephaly, and were associated with facial deformities, mainly manifested as cyclopia, eyes from too close, single nostril nose deformity or trunk, trunk deformity, malformed and central type of cleft lip and palate at the same time; 2 cases with both hands and feet shaft multi finger (toe) malformation, 2 cases combined with omphalocele. 1 cases of phyllodes holoprosencephaly, not complicated with facial deformities and other organs. CDFI display part of the forebrain of fetal cerebral arterial circle of Willis perfusion abnormal or there is a reverse flow phenomenon, the lack of integrity of the structure. Conclusion:Prenatal ultrasound is a non invasive, sensitive in detecting fetal holoprosencephaly and malformation, and of holoprosencephaly type, is of great significance to guide the prenatal counseling and clinical treatment.%目的:分析产前超声在胎儿全前脑畸形诊断中的应用价值.方法:选择2009年5月至2014年8月在我院接受产前超声检查被诊断为胎儿全前脑畸形的20例孕妇的临床资料进行回顾性分析,观察胎儿颅内结构、大脑Willis动脉环结构及血流情况、颜面部器官以及其他器官合并畸形情况.结果:在20例全前脑畸形胎儿中,12例为无叶全前脑、7例为半叶全前脑,且均伴有颜面部畸形,主要表现为独眼畸形、眼距过近、单鼻孔、无鼻孔长鼻畸形或象鼻畸

  17. 胎盘植入产前超声诊断的临床应用价值%Clinical Value of Prenatal Ultrasound Diagnosis of Placenta Implantation

    Institute of Scientific and Technical Information of China (English)

    欧阳一兵; 郭晓燕; 温穗文; 余桂云

    2014-01-01

    目的:探讨产前超声诊断在胎盘植入的临床应用价值。方法回顾性分析34例经由临床及病理学证实为胎盘植入的孕妇相关资料,分析其多普勒超声检查的声像学特征,及胎盘植入与产后出血及胎盘的关系。结果经由产前超声诊断提示共11例确诊,占比32.4%,出现漏诊23例,占比67.6%;经产前超声诊断提示胎盘植入的11例患者的影像学特征主要有:胎盘后间隙部分或者全部消失,胎盘有内漩涡流形成,胎盘附着处的子宫肌层菲薄及胎盘异常性增厚等,产后大出血与非产后大出血的胎盘植入发生率为(56.3%vs11.1%),胎盘前置与非胎盘前置的胎盘植入发生率为(71.4%vs 5.0%),前壁胎盘与非前壁胎盘的发生率为(53.3%vs15.8%),P<0.05。结论经超声检查对胎盘植入进行产前的诊断,对预防产后出血、保障母婴平安有着重要的价值。%Objective To explore the clinical value of prenatal ultrasound diagnosis of placenta implantation .Methods Doing retrospective analysis of 34 cases with placenta implantation confirmed by clinical and pathological pregnant relevant information, analyzing features of Doppler ultrasonographic and relationship of postpartum hemorrhage with placenta implantation placenta .Results Among 34 cases, 11 cases were diagnosed as placenta implantation by prenatal ultrasound , accounting for 32.4%.23 cases were missed , accounting for 66.7%.The main imaging characteristics were as follows:some or all of clearance of behind placenta disappeared , there was vortex flow in the placenta formation ,and there was myometrium meager attachment of the placenta and placental abnormalities thickening in the 11 pla-centa implantation of 34 cases patients diagnosed by prenatal ultrasound.Incidence of placenta accreta in postpartum hemorrhage patients and non-postpartum hemorrhage patients was 56.3%vs11.1%,incidence of placenta accreta

  18. 血管前置的产前超声筛查与诊断%Prenatal ultrasound screening and diagnosis of vasa previa

    Institute of Scientific and Technical Information of China (English)

    李胜利; 陈秀兰; 文华轩

    2011-01-01

    血管前置是导致围产儿死亡的一个危险因素,经阴道分娩围产儿死亡率高.超声检查是产前诊断血管前置最可靠且简便、易推广的检查方法.当产前超声检查发现低置胎盘、双叶胎盘、副胎盘、多叶胎盘、多胎妊娠、帆状胎盘等高危发病因素时,需详细检查宫颈内口,常规的检查方法是经腹超声检查,当因胎先露阻挡等原因显示宫颈内口不满意时,需结合经会阴超声检查或经阴道超声检查;经阴道超声检查是该3种检查方法中最可靠的显示方法,但合并阴道活动性出血或宫颈机能不全时不宜使用.对于产前诊断血管前置的病例,建议于临产前行选择性剖宫产术.%Vasa previa is a dangerous factor which may result in fetal demise. Vaginal delivery may lead to high fetal mortality. Ultrasound is the most reliable, simple and generalized way for diagnosis of prenatal vasa previa. If the following high risk factors are detected by prenatal ultrasound, such as low lying placenta, bi-lobed placenta, succenturiate lobe, multi-lobed placenta, multiple pregnancy and velamentous insertion of the cord, the internal cervical os is necassary for examination. Transabdominal ultrasound is the routine way to observe the internal cervical os. But if internal cervical os is not satisfied to observe internal cervical os because of fetal presentation,transperineal or transvaginal ultrasound is recommended. Transvaginal ultrasound is the most reliable way. However, it is not recommended to perform once the mother is complicated with active bleeding or cervical incompetence. Elective caesarean section should be offered prior to the onset of labour for cases that have been diagnosed of prenatal vasa previa.

  19. Prenatal diagnosis: From policy to practice. Two distinct ways of managing prognostic uncertainty and anticipating disability in Brazil and in France.

    Science.gov (United States)

    Ville, Isabelle; Mirlesse, Véronique

    2015-09-01

    Prenatal diagnosis (PND) has gradually established itself as part of the pregnancy monitoring process, with a view to reducing the number of births of children exposed to disability by combining the use of biomedical tools with laws that authorise abortion in cases of foetal pathology. This article looks at how laws which vary from one country to another modulate the way in which PND practices are organised on a daily basis, determine the discourse of practitioners and lead them to adopt specific stances during prenatal consultations with couples coping with a foetal anomaly. We present a comparative ethnographic study, which took place between 2009 and 2011 in France and Brazil, in reference units, based on observation of consultations, professional meetings, and interviews with health practitioners. The fact that access to abortion due to foetal pathology is possible in France, and criminalised in Brazil, conditions how doctors analyse the framework of their medical practice and approach the issue of disability with couples during consultations. In France, practitioners would appear to be satisfied with a professional framework that they themselves created. Faced with prognostic uncertainty, the legal obligation to inform encourages them to discuss all of the potential complications of the diagnosed anomalies and leads them to provide probabilistic information about the life of the child to be, supported by evidence-based medicine. In Brazil, in the public service, the lack of access to abortion has created a malaise among practitioners who criticise this impediment to the objective nature of their practice and to the quality of the information that they provide. Some use prognostic uncertainty to direct the thoughts of women and couples towards the dynamics proper to each individual human trajectory within a given family and a specific social environment.

  20. A rare case of sarcoidosis involving the middle turbinates: an incidental diagnosis

    Directory of Open Access Journals (Sweden)

    Tosun Emine

    2006-11-01

    Full Text Available Abstract Background Sarcoidosis is a chronic, systemic granulomatous disease of unknown etiology that features noncaseating granulomas in many body regions. Sinonasal involvement is rare but is also suspected to be underreported. Case presentation We present the case of a 39-year-old woman who was incidentally diagnosed with isolated sarcoidosis involving the middle turbinates. Histopathologic examination of resected concha bullosa material and an extensive panel of diagnostic tests revealed a diagnosis of isolated sarcoidosis. Since no systemic manifestations were detected, topical corticosteroid (nasal spray was administered in the postoperative period. Throughout the 12 months after surgery, the patient remained free of symptoms and all nasal endoscopy examinations were normal. Conclusion Although isolated nasal involvement of sarcoidosis is rare, otorhinolaryngologists should consider this condition in a differential diagnosis for sinonasal complaints.

  1. Pregnancy Outcome following Prenatal Diagnosis of Chromosomal Anomaly: A Record Linkage Study of 26,261 Pregnancies

    National Research Council Canada - National Science Library

    Jacobs, Myrthe; Cooper, Sally-Ann; McGowan, Ruth; Nelson, Scott M; Pell, Jill P

    2016-01-01

    ... and terminated with chromosomal anomalies. However, we are unaware of any population studies examining pregnancy terminations after diagnosis of chromosomal anomalies that has included all aneuploidies and the influence of maternal factors...

  2. 产前超声诊断胎儿出生缺陷的临床分析%The Clinical Study on the Diagnosis of Fetal Birth Defect by Prenatal Ultrasound Examination

    Institute of Scientific and Technical Information of China (English)

    马澜竹

    2015-01-01

    目的:探究产前超声诊断对胎儿出生缺陷的临床分析。方法选取2012年4月~2013年12月在我院就诊的627例孕妇进行产前的超声诊断,观察超声检查的图像。结果产前超声诊断的符合率为95.12%,漏诊率为4.9%,符合率较高,准确率高,有统计学意义(P<0.05)。结论产前的超声诊断能够准确检查出胎儿的出生缺陷问题,提高优生优育,为胎儿出生缺陷干预重要有效的方法。%Objective Clinical study on the diagnosis of fetal birth defect by prenatal ultrasound examination is to be investigated. Methods Chose 627 pregnant women who were received and treated in hospital from April 2012 to December 2013 and get them tested by prenatal ultrasound examination. And then make an observation on ultrasound image. Results The accuracy of prenatal ultrasound examination was up to 95.12%,and misdiagnosis probability was 4.9%; the prenatal diagnosis was of high accuracy and its outcome had statistic value(P<0.05). Conclusion Prenatal ultrasound examination is of high accuracy in diagnosis of fetal birth defect which is beneficial to improve sound birth and superior nurture; it is a quite effective way to prevent from fetal birth defect.

  3. Prenatal nicotine is associated with reduced AMPA and NMDA receptor-mediated rises in calcium within the laterodorsal tegmentum: a pontine nucleus involved in addiction processes.

    Science.gov (United States)

    McNair, L F; Kohlmeier, K A

    2015-06-01

    Despite huge efforts from public sectors to educate society as to the deleterious physiological consequences of smoking while pregnant, 12-25% of all babies worldwide are born to mothers who smoked during their pregnancies. Chief among the negative legacies bestowed to the exposed individual is an enhanced proclivity postnatally to addict to drugs of abuse, which suggests that the drug exposure during gestation changed the developing brain in such a way that biased it towards addiction. Glutamate signalling has been shown to be altered by prenatal nicotine exposure (PNE) and glutamate is the major excitatory neurotransmitter within the laterodorsal tegmental nucleus (LDT), which is a brainstem region importantly involved in responding to motivational stimuli and critical in development of drug addiction-associated behaviours, however, it is unknown whether PNE alters glutamate signalling within this nucleus. Accordingly, we used calcium imaging, to evaluate AMPA and NMDA receptor-mediated calcium responses in LDT brain slices from control and PNE mice. We also investigated whether the positive AMPA receptor modulator cyclothiazide (CYZ) had differential actions on calcium in the LDT following PNE. Our data indicated that PNE significantly decreased AMPA receptor-mediated calcium responses, and altered the neuronal calcium response to consecutive NMDA applications within the LDT. Furthermore, CYZ strongly potentiated AMPA-induced responses, however, this action was significantly reduced in the LDT of PNE mice when compared with enhancements in responses in control LDT cells. Immunohistochemical processing confirmed that calcium imaging recordings were obtained from the LDT nucleus as determined by presence of cholinergic neurons. Our results contribute to the body of evidence suggesting that neurobiological changes are induced if gestation is accompanied by nicotine exposure. We conclude that in light of the role played by the LDT in motivated behaviour, the

  4. Morphological evaluation of fetus CNS and its related anomalies; The advantages and limitations of prenatal diagnosis by means of MRI, US, and CT

    Energy Technology Data Exchange (ETDEWEB)

    Oi, Shizuo; Tamaki, Norihiko; Matsumoto, Satoshi; Katayama, Kazuaki; Mochizuki, Matsuto (Kobe Univ. (Japan). School of Medicine)

    1989-08-01

    The fetal central nervous system was evaluated morphologically by ultrasonography (US), magnetic resonance imaging (MRI), and CT scan to analyze the prenatal diagnostic value for anomalies. A total of 31 patients with 42 lesions had been diagnosed during the preceding 7 years. The patients included 24 with hydrocephalus, three with anencephaly, three with myeloschisis, three with holoprosencephaly, three with an encephalocele, two with a Dandy-Walker cyst, one with hydroencephalodysplasia, one with an intracranial neoplasm, one with sacrococcygeal teratoma, and one with sacral agenesis. Compared with US and MRI, CT proved to be more accurate in the detection of spine and cranium-bone morphology. This finding seems to be valuable in the diagnosis of spina bifida, cranium bifidum and some cases of hypertensive hydrocephalus, especially in the axial view. MRI was definitely superior in the anatomico-pathological diagnosis of cerebral dysgenesis, ventriculomegaly, intracranial tumors, and other brain parenchymal changes in view of multi-dimensional analysis. MRI performed poorly in the diagnosis of spine and cranium morphology. A super-conducting MRI system is still insufficient to demonstrate the spinal cord of a fetus. US used routinely and multidimensional slices were valuable for screening the CNS abnormalies. Intracranial hematomas had a specific echogenecity on US. However, US sometimes failed to demarcate the cerebral parenchymal or subdural morphological changes because its artifacts had hyperchoic shadows. While US, MRI, and CT were valuable diagnostic tools in the morphological evaluation of fetal CNS anomalies, each modality has different advantages and disadvantages. Diagnostic advandage,depending on the nature of the anamoly, can be achieved by using the complementary imaging modalities.

  5. Prenatal diagnosis and clinical significance of fetal congenital heart disease%胎儿先天性心脏病产前诊断与临床意义

    Institute of Scientific and Technical Information of China (English)

    叶林

    2012-01-01

    Congenital heart disease is one of the most common birth defects.In early pregnancy,congenital heart disease screening methods mainly include neck translucency thickness measurement,ductus venosus flow measurement and fetal echocardiography.In the second trimester fetal heart disease most directly by fetal ultrasound examination for diagnosis of heartbeat,besides cardiac anatomic abnormalities,arrhythmia the diagnosis and assessment of heart function also are the important examination content.Focusing on more congenital heart disease related gene researches can provide reliable basis for prenatal diagnosis.Through the fetal congenital heart disease screening intervention,physicians can help early formulation of clinical decision making,alleviate the burden of the families,which has obvious social and economic benefits.%先天性心脏病是最常见的出生缺陷之一.孕早期先天性心脏病筛查的方法主要有颈后透明层厚度测量、静脉导管血流测量以及直接进行胎儿超声心动图检查等.孕中期绝大部分的胎儿心脏病可以直接通过胎儿超声心动图检查获得诊断,除心脏解剖结构畸形外,心律失常的诊断以及心功能的评估也是重要检查内容.加强先天性心脏病的相关基因研究,也能够为产前诊断提供可靠依据.对胎儿先天性心脏病进行筛查干预,能够帮助医生早期制定临床决策,缓解家庭负担,有明显的社会效益.

  6. The effectiveness of ultrasound screening in the prenatal diagnosis of fetal malformation%胎儿肢体畸形的产前超声诊断价值

    Institute of Scientific and Technical Information of China (English)

    吕小利; 薛玉; 许建萍; 张歆; 吴新财; 陈宝定

    2015-01-01

    目的:探讨超声筛查诊断胎儿肢体畸形的价值。方法超声筛查8368名孕16~34周的孕妇,运用二维连续顺序追踪超声检测法(SCSA)结合三维超声表面及透明成像模式检查胎儿肢体。结果引产后胎儿肢体畸形22例,产前超声检出21例[9例双足内翻,1例一足外翻,2例四肢短小畸形,1例左小腿缺如,1例双上肢前臂缺如,3例肢体姿势异常,1例双侧桡骨缺失,3例多指(趾)]。其中19例合并其他畸形,1例漏诊及3例部分漏诊。结论二维超声连续顺序追踪检测法结合三维超声表面及透明成像法是产前检出胎儿肢体畸形的有效方法。%Objective To evaluate the effectiveness of ultrasound screening and diagnosis of fetal limb defor-mities. Methods Ultrasound screening of 8 368 cases of pregnancy 16 to 34 weeks pregnant , focus on detection of fetus′limbs by using systematic continuous sequence approach (SCSA) combined with three-dimensional ultrasound. Results After development of fetal limb deformity in 22 cases, prenatal ultrasound detected 21 cases, including 9 cases of varus feet,1 case of valgus foot , 2 cases of short limb deformity, 1 case with left leg absent,1 case of upper forearm absent, 1 cases of pairs of limb posture abnormalities, 3 cases of pairs of limb posture abnormalities, 1 case of Congenital radiu deficiency ,and 3 cases of multiple fingers (toes), with 19 cases complicate with other malformations,1 case of missed diagnosis and missed parts of 3 cases. Conclusion The method of systematic continuous sequence ap-proach (SCSA) in two-dimensional ultrasound combined with three-dimensional ultrasound screening are effective tools for use in prenatal identification ofetal limb deformities.

  7. Investigation on prenatal ultrasound diagnosis of fetal agenesis of septum pellucidum cavity%胎儿透明隔腔缺如的产前超声诊断

    Institute of Scientific and Technical Information of China (English)

    符燕鸣

    2015-01-01

    Objective To study the prenatal ultrasound diagnosis of fetus isolation chamber is absent . Methods Our hospital from October 2012 to October 2014 pregnant women for prenatal ultrasonic examination system between 8650 cases, including 8 cases of symptoms, the isolation chamber was absent for key observe cerebral ultrasound , ultrasonic characteristics and analyze its related abnormalities .Results All the 8 cases of fetal prenatal brain two-dimensional ultrasonic are transparent insulation cavity , its deficiency such as fetal related deformities has the following kinds: 1 ) the subcallosal sacral defect in 1 case, for lack of completeness; 2 ) holoprosencephaly in 2 cases, including leaves in 1 case, half leaf type 1 case;3) split brain malformation in 1 case;4) hole brain in 1 case; 5) type water anencephaly in 1 case; 6) severe hydrocephalus in 2 cases, including 1 case caused by midbrain aqueduct stenosis , 1 case caused by open spina bifida .Conclusions Cavity of septum pellucidum can be used as a middle and late ultrasonic observation important index of the fetal central nervous system development , if the isolation chamber is absent tend to cause various brain malformation fetus , such as frontal lesions and midline structure dysplasia .In double top diameter plane make prenatal ultrasound can observe transparent insulation cavity , it can be as an important observation methods have transparent insulation cavity.%目的:研究胎儿透明隔腔缺如的产前超声诊断。方法选取我院自2012年10月至2014年10月间进行产前系统超声检查的孕妇8650例,其中有8例透明隔腔缺如症状,对其进行颅脑超声重点观察,并且分析其相关畸形超声特征。结果所有8例胎儿的产前颅脑二维超声均未显示透明隔腔,其缺如胎儿的相关畸形有以下几种:(1)胼骶体缺失1例,为完全性缺失;(2)前脑无裂畸形2例,其中包括无叶型1例,半叶型1例;(3)脑裂畸形1

  8. Association between age at diagnosis of Graves' disease and variants in genes involved in immune response.

    Directory of Open Access Journals (Sweden)

    Beata Jurecka-Lubieniecka

    Full Text Available BACKGROUND: Graves' disease (GD is a complex disease in which genetic predisposition is modified by environmental factors. The aim of the study was to examine the association between genetic variants in genes encoding proteins involved in immune response and the age at diagnosis of GD. METHODS: 735 GD patients and 1216 healthy controls from Poland were included into the study. Eight genetic variants in the HLA-DRB1, TNF, CTLA4, CD40, NFKb, PTPN22, IL4 and IL10 genes were genotyped. Patients were stratified by the age at diagnosis of GD and the association with genotype was analysed. RESULTS: Polymorphism in the HLA-DRB1, TNF and CTLA4 genes were associated with GD. The carriers of the HLA DRB1*03 allele were more frequent in patients with age at GD diagnosis ≤30 years than in patients with older age at GD diagnosis. CONCLUSIONS: HLADRB1*03 allele is associated with young age at diagnosis of Graves' disease in Polish population.

  9. Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling.

    Science.gov (United States)

    Godino, Lea; Pompilii, Eva; D'Anna, Federica; Morselli-Labate, Antonio M; Nardi, Elena; Seri, Marco; Rizzo, Nicola; Pilu, Gianluigi; Turchetti, Daniela

    2016-03-01

    Despite the increasing availability and effectiveness of non-invasive screening for foetal aneuploidies, most women of advanced maternal age (AMA) still opt for invasive tests. A retrospective cross-sectional survey was performed on women of AMA undergoing prenatal invasive procedures, in order to explore their motivations and the outcome of preliminary genetic counselling according to the approach (individual or group) adopted. Of 687 eligible women, 221 (32.2%) participated: 117 had received individual counselling, while 104 had attended group sessions. The two groups did not differ by socio-demographic features. The commonest reported reason to undergo invasive tests was AMA itself (67.4%), while only 10.4% of women mentioned the opportunity of making informed choices. The majority perceived as clear and helpful the information received at counselling, and only 12.7% had doubts left that, however, often concerned non-pertinent issues. The impact of counselling on risk perception and decisions was limited: a minority stated their perceived risk of foetal abnormalities had either increased (6.8%) or reduced (3.6%), and only one eventually declined invasive test. The 52.6% of women expressed a preference toward individual counselling, which also had a stronger impact on perceived risk reduction (P=0.003). Nevertheless, group counselling had a more favourable impact on both clarity of understanding and helpfulness (P=0.0497 and P=0.035, respectively). The idea that AMA represents an absolute indication for invasive tests appears deeply rooted; promotion of non-invasive techniques may require extensive educational efforts targeted to both the general population and health professionals.

  10. Difficult diagnosis of invasive fungal infection predominantly involving the lower gastrointestinal tract in acute lymphoblastic leukaemia

    Directory of Open Access Journals (Sweden)

    Gulhadiye Avcu

    2016-03-01

    Full Text Available Invasive fungal infections are most commonly seen in immunocompromised patients and usually affect the respiratory system. Gastrointestinal system involvement of mucormycosis and invasive aspergillosis is rarely reported in childhood. Here we describe a 5 year old boy with acute lymphoblastic leukaemia who developed invasive fungal infection particularly affecting the lower gastrointestinal system to emphasise the difficulties in diagnosis and management of invasive fungal infections in immunocompromised patients.

  11. 产前超声诊断胎儿肺囊性病%Prenatal ultrasonic diagnosis of fet al cystic lung diseases

    Institute of Scientific and Technical Information of China (English)

    廖慧芳; 王冰; 蔡爱露; 王晓光; 陈骊珠

    2012-01-01

    目的 探讨超声诊断胎儿肺囊性病,主要是先天性肺囊腺瘤(CCAM)及隔离肺(PS)的临床应用价值.方法 对常规产前筛查怀疑先天性肺囊性病的23胎行进一步超声检查,重点观察胎儿肺内病变的回声特征、血供情况,并定期进行超声复查,观察有无纵隔偏移、羊水量增多或腹腔积液等合并症及其他结构异常,随访妊娠结局.结果 23胎于产前诊断为先天性肺囊性病,其中20胎为CCAM(20/23,86.96%),2胎为PS(2/23,8.70%),1胎为CCAM合并PS(1/23,4.35%).7胎(7/23,30.43%)发生纵隔移位,3胎(3/23,13.04%)出现羊水过多,另有1胎出现腹腔积液(1/23,4.35%).随访结果表明,9胎(9/23,39.13%)活产,其中5胎病变在产前出现自发性减小甚至消退;其余14胎引产(14/23,60.87%).结论 产前超声对于诊断胎儿肺囊性病有重要临床价值.%Objective To explore the clinical value of prenatal ultrasonography in diagnosis of fetal cystic lung diseases, especially congenital cystic adenomatoid malformation (CCAM) and pulmonary sequestration (PS). Methods Totally 23 fetuses with suspected cystic lung disease underwent ultrasound examination. Serial ultrasonography was performed to monitor the development of the lesions and to assess the presence or absence of complications such as mediastinal shift, poly-hydramnios, hydrops and other associated abnormalities. Then the outcome was evaluated during follow-up. Results Twenty-three fetuses were diagnosed as congenital cystic lung diseases prenatally, including 20 CCAM (20/23, 86. 96%) , 2 PS (2/23, 8. 70%) and 1 CCAM combined with PS (1/23, 4. 35%). Mediastinal shift was found in 7 fetuses (7/23, 30. 43%), polyhydramnios in 3 (3/23, 13. 04%) and seroperitoneum in 1 (1/23, 4. 35%). The follow-up outcome indicated that 9 fetuses were born alive (9/23, 39. 13%), in 5 of which the lesions' volume reduced or even disappeared spontaneously before birth. And the pregnancy was terminated in other 14

  12. 胎儿肢体畸形的产前超声诊断分析%Prenatal ultrasound diagnosis and analysis of fetal limb deformities

    Institute of Scientific and Technical Information of China (English)

    张晓慧; 肖利军; 邓旦; 梁燕; 廖明松; 罗丹

    2014-01-01

    目的:探讨胎儿肢体畸形超声声像图特征及方法学特点。方法回顾性分析2010年5月至2012年5月在成都军区总医院接受系统性超声检查的6336例孕妇,使用连续顺序追踪超声法(SCSA )检测胎儿上下肢长骨,观察手足时加用弧形扫查法,动态观察胎儿肢体的形态、结构、姿势及运动等情况。系统检查完成后对可疑或畸形部位进行三维成像作为补充,对胎儿肢体畸形的产前超声诊断结果进行分析。结果6336例孕妇经引产或出生后证实的胎儿肢体畸形20例,产前超声检出18例,分别为四肢短小畸形5例,致死性侏儒3例,海豹肢畸形1例,双侧桡骨缺失1例,一侧手缺失1例,双下肢小腿缺失1例,多指(趾)2例,足内翻3例,重叠指1例;2例漏诊分别为多指及重叠指。结论末端指趾数目及手足姿势异常易漏诊,是检查的难点和重点。%Objective To explore the ultrasonographic characteristics and methodology characteristics of fetal limb deformities . Methods A retrospective analysis was made on 6 336 pregnant women accepting systematic prenatal ultrasonography during the period of May 2010 to May 2012 in the General Hospital of Chengdu Military Region .The long bones of the upper and lower limbs were scanned by using the systematic continuous sequence approach (SCSA) and by adding the arc rotaryprocess for observing the hands and feet ,fetal limbs morphology ,structure ,posture and movement ,etc .were dynamically observed .The suspected position or fetal limb deformities were examined with three-dimensional(3D) ultrasonography as the supplementary .The prenatal ultrasound examination results of fetal limb deformities were analyzed .Results Among 6 336 pregnant women ,20 cases of fetal limb deformi-ties were confirmed by induced labor or after birth ,18 cases were diagnosed by the prenatal ultrsound ,including 5 cases of short limbs deformity ,3 cases of fatal

  13. Non invasive prenatal diagnosis: analysis of circulating fetal DNA and cells in maternal blood El diagnóstico prenatal no invasor: análisis de células y ADN fetal circulantes en la sangre materna

    Directory of Open Access Journals (Sweden)

    Diana Cecilia Jaramillo Posada

    2009-11-01

    Full Text Available

    Prenatal non invasive diagnosis by means of analyses of foetal DNA or cells circulating in maternal blood is one of the most promising areas of obstetrics. Among maternal diseases that could be diagnosed by these methods, or whose behaviour could be predicted, are preeclampsia, growth restriction and preterm labour. Some foetal conditions that could be detected are sex, chromosomal anomalies and single-gene defects. However, these are complex and expensive techniques that are not regularly performed in health care institutions. With this review we intend to provide the readers with up to date information on the main techniques available for the study of circulating foetal cells and DNA, and on their possible clinical applications. The review was based on a search for journals indexed up to 2008 in Pubmed, Scielo and Latindex. Especially relevant articles were chosen by the authors.

    El diagnóstico prenatal temprano y no invasor por medio del análisis de células o ADN fetales circulantes en la sangre materna es un área prometedora de la obstetricia moderna. Entre las enfermedades que se pueden diagnosticar o cuyo comportamiento es posible predecir por estos métodos se encuentran la preeclampsia, la restricción del crecimiento intrauterino y el parto pretérmino. Algunas condiciones fetales que podrían detectarse son el sexo, ciertas anomalías cromosómicas y los defectos de un solo gen. Sin

  14. 胎儿Apert综合征产前超声诊断研究%Prenatal diagnosis of Apert syndrome by sonography

    Institute of Scientific and Technical Information of China (English)

    黎文雅; 李胜利; 余艳红; 文华轩; 王晨虹

    2014-01-01

    examinations between January, 2010 to Februry, 2014 in our hospital were analyzed. The ultrasound images and postnatal outcome or autopsy were compared to analysis the sonographic features of Apert syndrome in prenatal. Results The prenatal ultrasound characteristics and pregnant outcome of the 4 fetuses were showed as followings:(1) Skull deformity:4 fetuses were all appeared as acrocephaly, coronal suture premature close and frontal protrusion, while 3 cases (case 1-3) had“clover leaf skull deformity”features. (2) Midfacial malformation deformity:3 cases (case 1-3) were all with hypertelorism and mid-sagittal facial proifle abnormal and only 1 case (case 2) had nose hypoplasia. (3) Limbs abnormal:4 cases were all appeared as bilateral symmetry syndactyly of hands and 1 case (case 2) was diagnosed as bilateral symmetry syndactyly of feet. (4) Associated abnormality:persistent right umbilical vein in 1 case (case1), thoracic spine stenosis in 1 case (case 2), hyperechogenic renal parenchyma in 1 case (case 3) and left-diaphragmatic hernia in 1 case (case 4). (5) The pregnant outcome:3 cases underwent pregnancy termination and 1 case was labored at term. The 3 cases (case1-3) were diagnosed as bilateral symmetry syndactyly of feet after induced labor. The cleft palate and bilateral symmetry syndactyly of feet were misdiagnosed in the full-time infant (case 3), who was died two days after birth. Conclusions The Apert syndrome is a rare syndrome. It generally has typical characteristic of prenatal ultrasound, such as coronal suture premature close, acrocephaly, mid-sagittal facial profile abnormal and bilateral symmetry syndactyly of hands and feet. Prenatal diagnosis of Apert syndrome can play an important role in genetic counseling and postnatal treatment.

  15. 1075例产前诊断中32例染色体异常胎儿预后分析%The prognosis analysis on the 32 cases with chromosome abnormality among 1075 cases in prenatal diagnosis

    Institute of Scientific and Technical Information of China (English)

    覃婷; 田矛; 莫伟英; 施月秋

    2011-01-01

    目的 探讨胎儿染色体异常与产前诊断的高危因素的关系及胎儿预后.方法 回顾性分析2004年10月至2009年8月间在我院因各种原因行羊膜腔穿刺或脐带血穿刺产前诊断的胎儿染色体核型.结果 总共1075例产前诊断中共发现胎儿染色体异常32人,染色体异常检出率2.97%.其中检出45,XY,t(21.14)1例,双胎均为46,XX,22Pstk+1例,47,XY,+(?),1例,46,XX,t(8;16)1例,46,XY,t(1;18)1例,46,XY,t(2;14)1例,46,XX,t(11;12)1例,产前诊断指征均为夫妻双方之一染色体平衡异位.46,XY,inv(Y)1例,产前诊断指征为生育过唐氏综合征.46,XY,inv(9)10例,产前诊断指征为羊水少,单脐动脉1人,孕期使用胚胎毒性药物使用史1人,唐氏征筛查高危4人,高龄2人,地中海贫血1人.47,XXY 1例,产前诊断指征为胎儿双肾盂分离.唐氏综合征6例,产前诊断指征为唐氏征高危2人,高龄3人,NT值高1人.47,XYY 2例,产前诊断指征为唐氏征高危1人,高龄1人.47,XXY/46,XX 1例,产前诊断指征为唐氏征高危.18-三体3例,产前诊断指征为高龄1人,NT值高1人,18,13-三体高危1人.结论 夫妻双方之一染色体平衡异位胎儿染色体核型异常类型多样.唐氏综合征及18-三体胎儿常见于高龄,血清学筛查高危,NT值升高孕妇.孕11-14周B超测NT值及孕中期血清学唐氏综合征筛查可以提高产前诊断的效率,减少出生缺陷.%Objective:To study the relationship between fetal chromosome abnormality and the high risk factors of prenatal diagnosis, and fetal prognosis. Methods: To analyze the fetal chromosome karyotypes which were performed the amniocentesis or cordocentesis in prenatal diagnosis due to various reasons in our hospital from October 2004 - August 2009. Results:In 1075 cases,the number of fetal chromosome abnormality was 32 in prenatal diagnosis,and the detection rate of chromosome abnormality was 2. 97%. There was one case of 45 ,XY,t(21 ;14) ,two cases of both fetuses of 46,XX,22

  16. Diagnosis of 65 cases of ampullary renal pelvis after postnatal follow-up of 1,167 newborn infants with prenatally suspected hydronephrosis.

    Science.gov (United States)

    Zhang, Lei; Liu, Chao; Li, Fujiang; Li, Xiang; Sun, Chao; Sun, Hao

    2015-01-01

    The aim of the present study was to assess the morbidity of ampullary renal pelvis (ARP) and document its natural history in post-natal life. A total of 1,167 newborn infants with prenatally suspected hydronephrosis were retrospectively analyzed. Of these, 65 patients were diagnosed with ARP by computed tomography urography (CTU) and/or magnetic resonance urography (MRU). All cases were followed up with ultrasonogrophy at 1, 3, 6 and 12 months after birth, and one case was followed up for 5 years. Changes in the separation of the renal pelvis collection system were recorded. Children with ARP accounted for 5.57% of the total cases (65/1,167) followed-up. No lack of connection between the renal calyces and the renal pelvis was detected. The long-term follow-up revealed that the separation of the renal pelvis collection system did not tend to increase over time. In addition to imaging examinations, long-term follow-up observation is recommended for the accurate diagnosis of pediatric ARP, particularly for differentiation from hydronephrosis.

  17. Prenatal diagnosis of fetal respiratory function: evaluation of fetal lung maturity using lung-to-liver signal intensity ratio at magnetic resonance imaging.

    Science.gov (United States)

    Oka, Yasuko; Rahman, Mosfequr; Sasakura, Chihaya; Waseda, Tomoo; Watanabe, Yukio; Fujii, Ryota; Makinoda, Satoru

    2014-12-01

    The purpose of this retrospective study is to determine the fetal lung-to-liver signal intensity ratio (LLSIR) on T2-weighted images for the prediction of neonatal respiratory outcome. One hundred ten fetuses who underwent magnetic resonance imaging (MRI) examination for various indications after 22 weeks of gestation participated in this study. LLSIR was measured as the ratio of signal intensities of the fetal lung and liver on T2-weighted images at MRI. We examined the changes of the ratio with advancing gestation and the relations between LLSIR and the presence of the severe respiratory disorder (SRD) after birth. The best cut-off value of the LLSIR to predict respiratory outcome after birth was calculated using receiver operating characteristic (ROC) curve analysis. Lung-to-liver signal intensity ratio correlated significantly with advancing gestational age (R = 0.35, p fetal LLSIR on T2-weighted images is an accurate marker to diagnose the fetal lung maturity. © 2014 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

  18. A new method for non-invasive prenatal diagnosis of Down syndrome using MeDIP real time qPCR

    Directory of Open Access Journals (Sweden)

    Philippos C. Patsalis

    2012-12-01

    Full Text Available During the last decade, the area of non-invasive prenatal diagnosis (NIPD has rapidly evolved. S