A critical review of benefits and limitations of magnetic resonance imaging as a complementary method in the diagnosis of fetal malformations

International Nuclear Information System (INIS)

Ximenes, Renato Luis da Silveira; Ximenes, Andrea Regina da Silveira; Szejnfeld, Jacob; Zanderigo, Valdir

2008-01-01

Objective: The present study was aimed at evaluating by means of magnetic resonance imaging a series of fetuses with sonographic diagnosis of malformation, establishing the diagnostic benefits and limitations of fetal magnetic resonance imaging as compared with ultrasonography. Materials and methods: Forty women between 15-35 gestational weeks and previously diagnosed with fetal abnormality by ultrasonography were referred to undergo complementary fetal magnetic resonance imaging, particularly for evaluating abnormalities in the fetal central nervous system, thorax, abdomen, renal system, skeletal system, and tumors. The whole evaluation process included a review of the fetal ultrasonography and magnetic resonance images, postnatal follow-up, laboratory tests, imaging studies and necropsy. Results: The present study has demonstrated that complementary magnetic resonance imaging did provide further information in 60% of cases, with the following benefits: improved information on the fetus as a whole, with a large field of view, higher anatomic resolution provided by fast sequences, superior soft tissue contrast resolution, besides the fact that the visualization of the fetus is not significantly affected by maternal obesity or oligohydramnios. Limitations of the method include contraindication in the first gestational trimester and in cases of maternal claustrophobia, sensitivity to fetal motion, low sensitivity for detecting cardiovascular and skeletal malformations. Conclusion: Fetal magnetic resonance imaging plays a significant role as a complementary method for the diagnosis of fetal anomalies. (author)

Endometriosis and uterine malformations: infertility may increase severity of endometriosis.

Science.gov (United States)

Boujenah, Jeremy; Salakos, Eleonora; Pinto, Mélodie; Shore, Joanna; Sifer, Christophe; Poncelet, Christophe; Bricou, Alexandre

2017-06-01

The aim of our study was to compare the stage and severity of endometriosis in fertile and infertile women with congenital uterine malformations. We performed an observational study from September 2007 to December 2015 in a tertiary care university hospital and assisted reproductive technology center. A total of 52 patients with surgically proven uterine malformations were included. We compared 41 infertile patients with uterine malformations with 11 fertile patients with uterine malformation. The main outcome was the stage, score and type of endometriosis in regard to infertility and class of uterine malformation. The rate of endometriosis did not differ between the two groups (43.9 vs. 36.4%). The mean revised American Fertility Society score was higher in infertile patients with uterine malformations (19.02 vs. 6, p endometriosis (43.9 vs. 37.5%). Endometrioma and deep infiltrating endometriosis were associated with uterine malformations in infertile women, respectively 14.6 and 0%. No difference in the characteristics of endometriosis was found regarding the class of malformation. The association of uterine malformations and infertility may increase the severity of endometriosis and raise the issue of their diagnosis and management. © 2016 Nordic Federation of Societies of Obstetrics and Gynecology.

microRNA expression profiling in fetal single ventricle malformation identified by deep sequencing.

Science.gov (United States)

Yu, Zhang-Bin; Han, Shu-Ping; Bai, Yun-Fei; Zhu, Chun; Pan, Ya; Guo, Xi-Rong

2012-01-01

microRNAs (miRNAs) have emerged as key regulators in many biological processes, particularly cardiac growth and development, although the specific miRNA expression profile associated with this process remains to be elucidated. This study aimed to characterize the cellular microRNA profile involved in the development of congenital heart malformation, through the investigation of single ventricle (SV) defects. Comprehensive miRNA profiling in human fetal SV cardiac tissue was performed by deep sequencing. Differential expression of 48 miRNAs was revealed by sequencing by oligonucleotide ligation and detection (SOLiD) analysis. Of these, 38 were down-regulated and 10 were up-regulated in differentiated SV cardiac tissue, compared to control cardiac tissue. This was confirmed by real-time quantitative reverse transcription-polymerase chain reaction (qRT-PCR) analysis. Predicted target genes of the 48 differentially expressed miRNAs were analyzed by gene ontology and categorized according to cellular process, regulation of biological process and metabolic process. Pathway-Express analysis identified the WNT and mTOR signaling pathways as the most significant processes putatively affected by the differential expression of these miRNAs. The candidate genes involved in cardiac development were identified as potential targets for these differentially expressed microRNAs and the collaborative network of microRNAs and cardiac development related-mRNAs was constructed. These data provide the basis for future investigation of the mechanism of the occurrence and development of fetal SV malformations.

Radiosurgery for cerebral arteriovenous malformation during pregnancy: A case report focusing on fetal exposure to radiation

OpenAIRE

Nagayama, Kazuki; Kurita, Hiroki; Tonari, Ayako; Takayama, Makoto; Shiokawa, Yoshiaki

2010-01-01

Introduction: We present the case of a pregnant woman who underwent linear accelerator (LINAC)-based stereotactic radiosurgery (SRS) and we discuss the fetal exposure to radiation. Clinical Presentation: A 20-year-old woman at 18 weeks of gestation presented with right cerebral hemorrhage and underwent urgent evacuation of the hematoma. She recovered well after surgery, but cerebral angiography after the surgery revealed a small deeply seated arteriovenous malformation (AVM) in the right fron...

Fetal chromosome abnormalities and congenital malformations: an ...

African Journals Online (AJOL)

The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung: A case report

International Nuclear Information System (INIS)

Shin, Hyun Ja; Shin, M. J.; Yoo, Y. J.; Park, J. M.; Kim, J. R.

1990-01-01

Congenital cystic adenomatoid malformation is one of a rare congenital malformation usually unilateal in volving a part of lobe or a whole lobe of the fetal lung, characterized by excessive growing of terminal respiratory element. We made a prenatal diagnosis in a case of congenital cystic adenomdtoid malformation with diffuse bilateral involvement, Stocker Type III which is associated with fetal hydrops

Extracranial vascular malformation: value of antenatal and postnatal MRI in management

Energy Technology Data Exchange (ETDEWEB)

Roche, C.J.; Pilling, D.W. [Dept. of Radiology, Royal Liverpool Children' s Hospital NHS Trust (United Kingdom); Walkinshaw, S.A. [Dept. of Fetal Medicine, Liverpool Women' s Hospital (United Kingdom); May, P.L. [Dept. of Neurosurgery, Royal Liverpool Children' s Hospital NHS Trust (United Kingdom)

2001-10-01

We report a case where fetal MRI using a low-field-strength magnet (0.5 T) accurately confirmed a large extracranial vascular malformation, which was suspected on antenatal US. Fetal MRI enabled better counselling of the parents and allowed suitable plans to be made regarding method of delivery and early management of the neonate. To our knowledge this is the first case of an extracranial vascular malformation imaged using fetal MRI. (orig.)

When One Knows a Fetus Is Expected to Die: Palliative Care in the Context of Prenatal Diagnosis of Fetal Malformations.

Science.gov (United States)

Rocha Catania, Taisa; Bernardes, Lisandra; Guerra Benute, Glaucia Rosana; Bento Cicaroni Gibeli, Maria Augusta; Bertolassi do Nascimento, Nathalia; Aparecida Barbosa, Tercilia Virginia; Jornada Krebs, Vera Lucia; Francisco, Rossana P V

2017-09-01

Fetal malformations occur in 2% of gestations and are the fifth most common cause of neonatal death in the world. In many cases, fetal malformations result in neonatal death or long stay in intensive care facilities. Families that continue the pregnancy in such a situation need to make choices and cope with an overwhelming number of potential issues. Palliative care starting at the prenatal period is a growing field that allows the entire family to prepare for this difficult situation. To perform a systematic review of published data on palliative care in the prenatal period. PubMed and the Cochrane Library were searched using the keywords ("perinatal" OR "prenatal" OR "fetal") AND "palliative care" and also ("perinatal" OR "prenatal" OR "fetal") AND "hospice." Studies focusing on the long-term impact of prenatal palliative care published up to December 2015 were used. Quantitative and qualitative studies. In total, 541 studies were retrieved; 29 articles met the inclusion criteria. Studies were organized into different categories according to the design or main focus. The majority of studies retrieved were reflexives or presented a narrative proposal on palliative care started in the prenatal period (45%). Clinical studies comprised 17% of all articles found. No studies were found on the long-term impact of prenatal palliative care. Prenatal palliative care is a growing field and an important supportive care measure that can help grieving parents and families who do not want to or cannot interrupt their pregnancy. More studies should be carried out, specifically concerning long-term impact of prenatal palliative care. Guidelines and training of health professionals must be developed so that more families can benefit from this type of care.

Congenital varicella-zoster virus infection. A rare case of severe brain and ocular malformations without limb or cutaneous involvement in a newborn after maternal subclinical infection

International Nuclear Information System (INIS)

Al-Katawee, Yousef A.; Al-Hasoun, Yousef A.; Taha, Mohamed N.; Al-Moslem, Khaled

2005-01-01

Although congenital varicella-zoster virus VZV infection is rare, it carries serious morbidity and mortality to the fetus and newborn infant. We report a full term female newborn infant, born to a multipara unbooked mother who had VZV subclinical infection during the first trimester of pregnancy. Routine newborn examination showed cystic malformation of the left eye, and absence of the right eye globe. Radiological work up revealed severe brain and eye malformations, serological studies of both mother and baby were positive for VZV. The baby underwent palliative surgery to the eyes, upon discharge, a plan of multidisciplinary team was made for follow up including neurologist, ophthalmologist, pediatrician and social worker. Congenital VZV infection can be severe enough to cause catastrophic fetal anomalies and damage to the vital organs as many of those infants die in infancy. (author)

A case-control study of maternal periconceptual and pregnancy recreational drug use and fetal malformation using hair analysis.

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Anna L David

Full Text Available OBJECTIVE: Maternal recreational drug use may be associated with the development of fetal malformations such as gastroschisis, brain and limb defects, the aetiology due to vascular disruption during organogenesis. Using forensic hair analysis we reported evidence of recreational drug use in 18% of women with a fetal gastroschisis. Here we investigate this association in a variety of fetal malformations using the same method. METHODS: In a multi-centre study, women with normal pregnancies (controls and those with fetal abnormalities (cases gave informed consent for hair analysis for recreational drug metabolites using mass spectrometry. Hair samples cut at the root were tested in sections corresponding to 3 month time periods (pre and periconceptual period. RESULTS: Women whose fetus had gastroschisis, compared to women with a normal control fetus, were younger (mean age 23.78 ± SD4.79 years, 18-37 vs 29.79 ± SD6 years, 18-42, p = 0.00001, were more likely to have evidence of recreational drug use (15, 25.4% vs 21, 13%, OR2.27, 95thCI 1.08-4.78, p = 0.028, and were less likely to report periconceptual folic acid use (31, 53.4% vs 124, 77.5%, OR0.33, 95thCI 0.18-0.63, p = 0.001. Age-matched normal control women were no less likely to test positive for recreational drugs than women whose fetus had gastroschisis. After accounting for all significant factors, only young maternal age remained significantly associated with gastroschisis. Women with a fetus affected by a non-neural tube central nervous system (CNS anomaly were more likely to test positive for recreational drugs when compared to women whose fetus was normal (7, 35% vs 21, 13%, OR3.59, 95th CI1.20-10.02, p = 0.01. CONCLUSIONS: We demonstrate a significant association between non neural tube CNS anomalies and recreational drug use in the periconceptual period, first or second trimesters, but we cannot confirm this association with gastroschisis. We confirm the association of

Pathogenesis of cerebral malformations in human fetuses with meningomyelocele

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Brouwer Oebele F

2008-03-01

Full Text Available Abstract Background Fetal spina bifida aperta (SBA is characterized by a spinal meningomyelocele (MMC and associated with cerebral pathology, such as hydrocephalus and Chiari II malformation. In various animal models, it has been suggested that a loss of ventricular lining (neuroepithelial/ependymal denudation may trigger cerebral pathology. In fetuses with MMC, little is known about neuroepithelial/ependymal denudation and the initiating pathological events. The objective of this study was to investigate whether neuroepithelial/ependymal denudation occurs in human fetuses and neonates with MMC, and if so, whether it is associated with the onset of hydrocephalus. Methods Seven fetuses and 1 neonate (16–40 week gestational age, GA with MMC and 6 fetuses with normal cerebral development (22–41 week GA were included in the study. Identification of fetal MMC and clinical surveillance of fetal head circumference and ventricular width was performed by ultrasound (US. After birth, MMC was confirmed by histology. We characterized hydrocephalus by increased head circumference in association with ventriculomegaly. The median time interval between fetal cerebral ultrasound and fixing tissue for histology was four days. Results At 16 weeks GA, we observed neuroepithelial/ependymal denudation in the aqueduct and telencephalon together with sub-cortical heterotopias in absence of hydrocephalus and/or Chiari II malformation. At 21–34 weeks GA, we observed concurrence of aqueductal neuroepithelial/ependymal denudation and progenitor cell loss with the Chiari II malformation, whereas hydrocephalus was absent. At 37–40 weeks GA, neuroepithelial/ependymal denudation coincided with Chiari II malformation and hydrocephalus. Sub-arachnoidal fibrosis at the convexity was absent in all fetuses but present in the neonate. Conclusion In fetal SBA, neuroepithelial/ependymal denudation in the telencephalon and the aqueduct can occur before Chiari II malformation

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects

NARCIS (Netherlands)

Jonker, Jara E.; Liem, Eryn T.; Elzenga, Nynke J.; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M. A.

2016-01-01

Objective To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. Study design We included 129 patients with CARM born between 2004 and 2013, and

Severe Klippel-Feil syndrome with Mondini malformation of inner ear.

Science.gov (United States)

Alaqeel, Aqeel Abdullah

2014-01-01

Klippel-Feil syndrome is defined as the fusion of cervical vertebra with associated congenital anomalies but was rarely reported to be associated with Mondini Malformation. We report a newborn girl with severe neck extension, computed tomography (CT) of the neck after birth showed fusion of the fifth, sixth, and seventh cervical vertebrae, compatible with Klippel-Feil Syndrome and CT temporal bone showed choclear dysplasia with incomplete number of turns that is compatible with Mondini Malformation.

The Danish Fetal Medicine Database

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Ekelund CK

2016-10-01

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

Multiple congenital skeletal malformations in a lamb associated with ...

African Journals Online (AJOL)

Other malformations included patella absence, resulting in bowing of both fore and hind limbs with poorly developed muscles associated with these skeletal structure. Dystocia was believed to be a result of fetal monstrosity resulting in abnormal posture. The cause of the congenital malformations was not obvious ...

Correlation between fetal autopsy and prenatal diagnosis by ultrasound: A systematic review.

Science.gov (United States)

Rossi, A Cristina; Prefumo, Federico

2017-03-01

The objective of this study was to review literature about the correlation between fetal autopsy and ultrasound findings of fetal malformations. Search in PubMed, Medline, EMBASE, Clinicl trials.org, reference list was performed. Inclusion criteria for studies selection were: fetal autopsy performed after termination of pregnancy (TOP) or stillbirth, TOP for fetal anomalies, prenatal diagnosis of malformations, data reported as proportional rates. case reports, non English language, data reported in graphs or percentage. From each article: sample size, type of malformation, indication for TOP, autopsy findings. Fetal anomalies were grouped in central nervous system (CNS), genitourinary (GU), congenital heart defects (CHD), gastrointestinal (GI), thorax, limbs, skeleton, genetics (TOP for abnormal karyotype), multiples (TOP for multiple severe malformations for which a single indication for TOP/stillbirth could not be identified). Correspondence between autopsy and ultrasound was defined as agreement (same diagnosis), additional (additional findings undetected by ultrasound), unconfirmed (false positive and false negative ultrasound). PRISMA guidelines were followed. From 19 articles, 3534 fetuses underwent autopsy, which confirmed prenatal ultrasound in 2401 (68.0%) fetuses, provided additional information in 794 (22.5%) fetuses, and unconfirmed prenatal ultrasound in 329 (9.2%) fetuses. The latter group consisted of 3.2% false positive and 2.8% false negative cases. The additional findings changed the final diagnosis in 3.8% of cases. The most frequent indication for TOP/stillbirth was CNS anomalies (36.3%), whereas thorax anomalies represented the less frequent indication (1.7%). The highest agreement between autopsy and prenatal ultrasound was observed in CNS (79.4%) and genetics (79.2%), followed by GU anomalies (76.6%), skeleton (76.6%), CHD (75.5%), thorax (69.7%); GI (62.6%), multiple (37.0%), limbs (23.3%). In spite of the high agreement between prenatal

The effects of Fetal Surgery on Retinopathy of Prematurity Development

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Sudha Nallasamy

2009-01-01

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

A case of fetal intestinal volvulus without malrotation causing severe anemia.

Science.gov (United States)

Nakagawa, Tomoko; Tachibana, Daisuke; Kitada, Kohei; Kurihara, Yasushi; Terada, Hiroyuki; Koyama, Masayasu; Sakae, Yukari; Morotomi, Yoshiki; Nomura, Shiho; Saito, Mika

2015-01-01

Fetal intestinal volvulus without malrotation is a rare, life-threatening disease. Left untreated, hemorrhage from necrotic bowel tissue will lead to severe fetal anemia and even intrauterine death. We encountered a case of fetal intestinal volvulus causing severe anemia, which was diagnosed postnatally and successfully treated with surgical intervention.

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects.

Science.gov (United States)

Jonker, Jara E; Liem, Eryn T; Elzenga, Nynke J; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M A

2016-12-01

To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major. Of 129 patients with CARM, 67% had mild CARM, 33% severe CARM, and 17% were additionally diagnosed with CHD. CHDs were distributed equally in patients with mild or severe CARMs. Patients with multiple congenital abnormalities were more frequently diagnosed with CHD (n = 16, 36%) than patients without multiple congenital malformations (n = 5, 9%, P = .001). Patients with CARM diagnosed with CHD using pediatric cardiac echo screening were younger than 3 months of age at diagnosis. Earlier general pediatric examinations missed 7 (50%) children with mild and 4 (50%) with severe CHDs. The severity of CARM could predict neither prevalence nor severity of CHD. More than one-half of CHDs were missed during the first physical examination. No new CHDs were found in patients older than 3 months of age at the time CARMs were diagnosed. We recommend screening all patients with CARM younger than 3 months of age for CHD at the time CARM is diagnosed. Preoperative echocardiography should be the rule in children younger than 3 months of age and with multiple congenital anomalies. Copyright © 2016 Elsevier Inc. All rights reserved.

Implications of a first trimester Down syndrome screening program on timing of malformation detection

DEFF Research Database (Denmark)

Jakobsen, Tanja Roien; Søgaard, Kirsten; Tabor, Ann

2011-01-01

To determine the impact which introduction of the 11-14 week scan has had on the gestational age at which fetal malformations are detected by ultrasound in an unselected population of pregnant women.......To determine the impact which introduction of the 11-14 week scan has had on the gestational age at which fetal malformations are detected by ultrasound in an unselected population of pregnant women....

A Case of Fetal Intestinal Volvulus without Malrotation Causing Severe Anemia

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Tomoko Nakagawa

2015-01-01

Full Text Available Fetal intestinal volvulus without malrotation is a rare, life-threatening disease. Left untreated, hemorrhage from necrotic bowel tissue will lead to severe fetal anemia and even intrauterine death. We encountered a case of fetal intestinal volvulus causing severe anemia, which was diagnosed postnatally and successfully treated with surgical intervention.

Fever in pregnancy and the risk of congenital malformations

DEFF Research Database (Denmark)

Sass, L.; Urhoj, S. K.; Kjærgaard, J.

2017-01-01

fetal malformations or death. Fever during pregnancy, especially during embryogenesis, has also been associated with congenital malformations in human offspring. The purpose of this large cohort study of clinically recognized pregnancies was to investigate whether fever during first trimester...... was associated with an increased risk of congenital malformations in the offspring. Methods: The Danish National Birth Cohort is a population-based cohort of 100,418 pregnant women and their offspring recruited in 1996 to 2002. Information on fever during pregnancy was collected prospectively by means of two....... Congenital malformations within the first three and a half years of life were categorized according to EUROCAT's classification criteria. Logistic regression models were used to estimate the associations between fever in first trimester and overall congenital malformations and congenital malformations...

Congenital Malformations Associated with Maternal Diabetes

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Chih-Ping Chen

2005-03-01

Full Text Available Maternal diabetes has toxic effects on the development of the embryo and significantly increases the risk of congenital malformations in humans. The incidence of fetal structural defects caused by maternal pregestational diabetes is three- to fourfold higher than that caused by non-diabetic pregnancy. The congenital malformations associated with diabetic pregnancy arise before the seventh gestational week. Diabetic embryopathy can affect any developing organ system, including the central nervous system (CNS (anencephaly, spina bifida, microcephaly, and holoprosencephaly, skeletal system (caudal regression syndrome, sacral agenesis, and limb defects, renal system (renal agenesis, hydronephrosis, and ureteric abnormalities, cardiovascular system (transposition of the great vessels, ventricular septal defects, atrial septal defects, coarctation of the aorta, cardiomyopathy, and single umbilical artery, and gastrointestinal system (duodenal atresia, anorectal atresia, and small left colon syndrome. Pregnant women with fetuses with diabetic embryopathy may have chronic or unrecognized hyperglycemia and elevated levels of glycerated hemoglobin. This review emphasizes the necessity to consider hyperglycemia-induced teratogenesis during genetic counseling of parents with prenatally detected fetal malformations. Successful preconception counseling for women with diabetes mellitus and metabolic control will reduce birth defects and maternal morbidity.

Antenatal hemorrhage of a cervical lymphatic malformation presenting as a draining neck mass: An unusual presentation.

Science.gov (United States)

Haricharan, R N; Nawaz, M; Bettolli, M; Ferretti, E

2014-01-01

Lymphatic malformations in the neck can present as large fetal neck masses causing airway obstructions with potential perinatal demise and can pose a therapeutic challenge. We present a rare case of prenatally diagnosed large fetal neck mass with features of lymphatic malformation with intralesional hemorrhage of uncertain origin. Postnatal evaluation showed a complex cystic-solid lesion eroding through the skin with an open wound that made it clinically hard to differentiate from a teratoma. Given that malignancy could not be completely ruled out, surgery was favored. Final pathology showed a complex lymphatic malformation with intralesional hemorrhage, despite having no associated capillary, venous or arterial malformations.

Ultrasonic Diagnosis of Fetal Ascites and Toxoplasmosis

DEFF Research Database (Denmark)

Blaakær, Jan

1986-01-01

The ultrasonic diagnosis of fetal ascites caused by Toxoplasma Gondii is presented. When a diagnosis of fetal ascites without obvious etiological malformation is established, toxoplasmosis should be suspected. A serological test should be performed, in view of the possibility of antenatal treatme...

Comparison of rat and rabbit embryo-fetal developmental ...

Science.gov (United States)

Regulatory non-clinical safety testing of human pharmaceutical compounds typically requires embryo fetal developmental toxicity (EFDT) testing in two species, (one rodent and one non-rodent, usually the rat and the rabbit). The question has been raised whether under some conditions EFDT testing could be limited to one species, or whether the need for testing in a second species could be decided on a case by case basis. As part of an RIVM/CBG-MEB/HESI/US EPA consortium initiative, we built and queried a database of 379 EFDT studies conducted for marketed and non-marketed pharmaceutical compounds. The animal models (rat and rabbit) were assessed for their potential for adverse developmental and maternal outcomes. The database was analyzed for the prevalence of EFDT incidence and the nature and severity of adverse findings in the two species. Some manifestation of EFDT in either one or both species (rat and rabbit) was demonstrated for 282 compounds (74%), and EFDT was detected in only one species (rat or rabbit) in almost a third (31%, 118 compounds), with approximately 58% rat and 42% rabbit studies identifying an EFDT signal among the 379 compounds tested. For 24 compounds (6%), fetal malformations were observed in one species (rat or rabbit) in the absence of any EFDT in the second species. In general, growth retardation, fetal variations, and malformations were more prominent in the rat, whereas embryo-fetal death was observed more often in the rabbit. Discor

Fetal magnetic resonance imaging and human genetics

International Nuclear Information System (INIS)

Hengstschlaeger, Markus

2006-01-01

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

Fetal magnetic resonance imaging and human genetics

Energy Technology Data Exchange (ETDEWEB)

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

2006-02-15

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

The Danish fetal medicine database

DEFF Research Database (Denmark)

Ekelund, Charlotte Kvist; Kopp, Tine Iskov; Tabor, Ann

2016-01-01

trimester ultrasound scan performed at all public hospitals in Denmark are registered in the database. Main variables/descriptive data: Data on maternal characteristics, ultrasonic, and biochemical variables are continuously sent from the fetal medicine units’Astraia databases to the central database via...... analyses are sent to the database. Conclusion: It has been possible to establish a fetal medicine database, which monitors first-trimester screening for chromosomal abnormalities and second-trimester screening for major fetal malformations with the input from already collected data. The database...

Major congenital malformations in the high and normal level radiation areas of southwest coast of Kerala

International Nuclear Information System (INIS)

Sudheer, K.R.; Jaikrishan, G.; Andrews, V.J.; Koya, P.K.M.; Seshadri, M.; Jagadeesan, C.K.; Madhusoodhanan, M.

2012-01-01

Congenital malformations are defects in organogenesis during the fetal periods and its influence on the individual may vary according to the type of malformation. Some congenital malformations are trivial and may not have any significance but for a minimal cosmetic deformity. Major malformations on the contrary may be severe enough to be life-threatening with serious structural, functional or cosmetic disability requiring surgical or medical management and are an important cause of mortality and morbidity all over the world. The present paper analyses the major malformations detected during the monitoring of newborns in selected government hospitals in and around the high level natural radiation areas of Kerala, a narrow strip of land in the southwest coast extending from Purakkad panchayat of Alapuzha district in the north to Neendakara Panchayat of Quilon district in the south. The coastal area has natural deposits of Monazite sand containing Thorium. Thorium together with its daughter products accounts for the elevated levels of natural radiation. The finding in general was in conformity with similar works on malformations

Fetal MRI

International Nuclear Information System (INIS)

Prayer, D.; Brugger, P.C.

2004-01-01

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

Fetal MRI

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

2004-07-01

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

[Results of amnioinfusion in pregnancies with oligohydramnios and non-ruptured fetal membranes].

Science.gov (United States)

Zamłyński, Jacek; Bodzek, Piotr; Olejek, Anita; Grettka, Krzysztof; Mańka, Grzegorz

2003-01-01

Authors analysed results of amnioinfusion in the group of 65 pregnant women with oligohydramnios and non-ruptured fetal membranes. Amnioinfusions were the most efficient in the pregnancies with oligohydramnios and asymmetric hypotrophy, idiopathic oligohydramnios or oligohydramnios with pathological FCG. The group with oligohydramnios and fetal malformations showed the worst results of the treatment. The findings confirm mainly the diagnostic character of the method before the end of 25 week of pregnancy because during period the oligohydramnios usually occurs together with lethal fetus malformations. The amnioinfusion in the cases of fetal hypotrophy and pregnancy-induced hypertension seems to be the prophylactic procedure.

Fetal MRI: techniques and protocols

International Nuclear Information System (INIS)

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

2004-01-01

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

Fetal MRI: techniques and protocols

Energy Technology Data Exchange (ETDEWEB)

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

2004-09-01

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

Caracterização sociodemográfica e resultados perinatais das gestações com diagnóstico ultrassonográfico de malformação fetal Socio demographic characteriation and perinatal outcome of pregnancies with ultrasonographic diagnosis of major fetal malformation in a referral centre

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Juliana Limeira de Araújo Moura Ramos

2009-01-01

Full Text Available OBJETIVO: Caracterizar, do ponto de vista sociodemográfico, e obter a evolução pós-natal, das gestantes com diagnóstico ultrassonográfico pré-natal de malformação fetal maior, atendidas no Setor de Medicina Fetal do Hospital das Clínicas (HC da Faculdade de Medicina da Universidade de São Paulo, entre 15/12/2005 e 15/12/2006. METHODS: Estudo descritivo com 335 gestantes entrevistadas após a obtenção do termo de consentimento pós-informado. Os dados pós-natais foram obtidos mediante contato até um mês após a data provável do parto. Foram excluídas aquelas que não aderiram e que não tiveram confirmação da malformação fetal. RESULTADOS: A idade materna média das gestantes foi de 27,1 anos; a cor da pele predominante parda (48,1%. Em relação à escolaridade, 57,8% das gestantes apresentavam grau de escolaridade igual ou inferior ao ensino médio completo. A renda salarial média foi de 3,1 salários mínimos. Quanto aos antecedentes de malformação fetal, 10,4% das gestantes o referiram. Dentre os casos de malformação atual, as do sistema nervoso central foram as mais prevalentes (28%, seguidas das malformações renais (9,2% e cardíacas (8,9%. Das gestantes submetidas à pesquisa do cariótipo fetal, 23,6% obtiveram resultados anormais. Em 311 casos (92,8%, o resultado da gestação foi obtido. Destes, 76,8% nasceram vivos; 25,7% evoluíram com óbito neonatal; 16,4% foram natimortos e em 6,3% houve interrupção da gestação. CONCLUSÃO: O presente estudo permitiu conhecer as características sociodemográficas e os resultados gestacionais de mulheres com diagnóstico de malformação fetal, o que poderá ser útil para o planejamento periconcepcional deste grupo de pacientes.OBJECTIVE: The purpose of this study is to describe the socio demographic profile and perinatal outcome of pregnant women with prenatal ultrasound diagnosis of major fetal malformation at the Hospital das Clínicas, Medical School, S�

Observation of the human fetal corpses with maxillofacial malformations. 1. CT and MRI examinations of the fetal cleft lip and/or palate

International Nuclear Information System (INIS)

Saito, Chikara; Nakano, Yoko; Shigematsu, Shiro

1999-01-01

Of the various types of congenital malformations, the cleft lip and/or palate is one of the most frequent. Observation of human fetal corpses exhibiting cleft lip and palate is very important to research on its onset of its mechanism and development. In recent years, some of researchers have performed clinical studies on prenatal diagnosis and surgical treatment for the entirety. However, there have hardly been any reports on detailed observations of the maxillofacial structure of a fetus with cleft lip and palate. We seized an opportunity of observing the maxillofacial structure of fetuses with cleft lip and/or palate using three-dimensional CT (3D-CT) and MR imaging as non-disjunctive methods. In the present study, nine fetal corpses having cleft lip and/or palate were examined. The results were as follows: CT and MRI were useful for non-invasive observation of the maxillofacial structure, including soft tissues. Because the osseous tissues of young fetus tissue is not fully mature, observation of bone structures was slightly difficult. When corpses were immersed in formalin for a long time, osseous tissue was decalcified, thus making it difficult to obtain clear images. We could observe the details of the maxillofacial structures such as the alveolar process, the hard palate, the maxillary sinus, the nasal cavity, the nasal bone, and the vomer, in some of the cases. 3D-CT and MR findings observed in the fetuses with cleft lip and/or palate should provide some basement of the imaging diagnosis of congenital disorder. (author))

Observation of the human fetal corpses with maxillofacial malformations. 1. CT and MRI examinations of the fetal cleft lip and/or palate

Energy Technology Data Exchange (ETDEWEB)

Saito, Chikara; Nakano, Yoko; Shigematsu, Shiro [Tokyo Dental Coll., Chiba (Japan)] (and others)

1999-06-01

Of the various types of congenital malformations, the cleft lip and/or palate is one of the most frequent. Observation of human fetal corpses exhibiting cleft lip and palate is very important to research on its onset of its mechanism and development. In recent years, some of researchers have performed clinical studies on prenatal diagnosis and surgical treatment for the entirey. However, there have hardly been any reports on detailed observations of the maxillofacial structure of a fetus with cleft lip and palate. We seized an opportunity of observing the maxillofacial structure of fetuses with cleft lip and/or palate using three-dimensional CT (3D-CT) and MR imaging as non-disjunctive methods. In the present study, nine fetal corpses having cleft lip and/or palate were examined. The results were as follows: CT and MRI were useful for non-invasive observation of the maxillofacial structure, including soft tissues. Because the osseous tissues of young fetus tissue is not fully mature, observation of bone structures was slightly difficult. When corpses were immersed in formalin for a long time, osseous tissue was decalcified, thus making it difficult to obtain clear images. We could observe the details of the maxillofacial structures such as the alveolar process, the hard palate, the maxillary sinus, the nasal cavity, the nasal bone, and the vomer, in some of the cases. 3D-CT and MR findings observed in the fetuses with cleft lip and/or palate should provide some basement of the imaging diagnosis of congenital disorder. (author)

Application of ultrasound in fetal cardiac abnormalitis screening and analyzing of influencing factors

International Nuclear Information System (INIS)

Wu Wei; Chen Hui; Guo Hua; Fu Lijuan

2009-01-01

Objective: To identify the application value of ultrasound in the screening of fetal cardiac abnormalities and to reduce its affecting factors, in order to maximally decrease the birth of oaf. Methods: Adopting the method of four chamber hearts cross-section and sound beam plane head laterodeviation, 3821 fetal hearts were screened by ultrasonocardiography in middle and late fetal period. The influencing factors were also analyzed. Screening results were compared with the autopsy following induced labor and the ultrasonocardiogram after borne. Results: Total 23 cases of the cardiac anomalies were confirmed by odinopoeia or after borned, 21 cases were diagnosed by antepartum ultrasonocardiography, the detectable rate were 91.3%(21/23). And the complex cardiac anomalies were 19 cases, accounted for 82.61%(19/23), the general malformation were 4 cases, accounted for 17.39%(4/23). In 19 cases of the complex anomalies, 17 cases were diagnosed by antepartum examination in the first time, 2 cases were diagnosed by reexamination, the total detectable rate were 100%(19/19). Conclusion: Ultrasonography is not only non-invasive but also unique method in detecting fetal heart defects. It will help to diagnose definitely the vast majority of congenital malformation in the fetal heart, especially complex malformation in the middle and later fetal period. There are some limitations and chronergy in ultrasonography for the screening of fetal heart defects, which should be followed-up when the fetal appeared 'normal' in the early screening. (authors)

A case report of corgenotal cystic adenomatoid malformation

International Nuclear Information System (INIS)

Jun, Soon Ae; Cha, Kyung Sub; Chi, Je Geun

1987-01-01

Congenital cystic adnomatoid malformation (CCAM) is rare pulmonary cystic disease. CCAM has been detected on prematurity, stillborn and respiratory distress infant or child by chest X-ray film and CT scan. One case of CCAM diagnosed in utero at gestational age 22 weeks is reported with sonographic findings and autopsy findings. Ultrasonographic findings are large cystic lesion in fetal thorax and fetal hydrops without hydramnios. The survival of these infants is very poor despite accurate prenatal diagnosis and maximal postnatal care

Diagnostic value of ultrafast fetal MRI

International Nuclear Information System (INIS)

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

2003-01-01

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

Metabolomics Application in Maternal-Fetal Medicine

OpenAIRE

Fanos, Vassilios; Atzori, Luigi; Makarenko, Karina; Melis, Gian Benedetto; Ferrazzi, Enrico

2013-01-01

Metabolomics in maternal-fetal medicine is still an “embryonic” science. However, there is already an increasing interest in metabolome of normal and complicated pregnancies, and neonatal outcomes. Tissues used for metabolomics interrogations of pregnant women, fetuses and newborns are amniotic fluid, blood, plasma, cord blood, placenta, urine, and vaginal secretions. All published papers highlight the strong correlation between biomarkers found in these tissues and fetal malformations, prete...

[The advantages of early midtrimester targeted fetal systematic organ screening for the detection of fetal anomalies--will a global change start in Israel?].

Science.gov (United States)

Bronshtein, Moshe; Solt, Ido; Blumenfeld, Zeev

2014-06-01

Despite more than three decades of universal popularity of fetal sonography as an integral part of pregnancy evaluation, there is still no unequivocal agreement regarding the optimal dating of fetal sonographic screening and the type of ultrasound (transvaginal vs abdominal). TransvaginaL systematic sonography at 14-17 weeks for fetal organ screening. The evaluation of over 72.000 early (14-17 weeks) and late (18-24 weeks) fetal ultrasonographic systematic organ screenings revealed that 96% of the malformations are detectable in the early screening with an incidence of 1:50 gestations. Only 4% of the fetal anomalies are diagnosed later in pregnancy. Over 99% of the fetal cardiac anomalies are detectable in the early screening and most of them appear in low risk gestations. Therefore, we suggest a new platform of fetal sonographic evaluation and follow-up: The extensive systematic fetal organ screening should be performed by an expert sonographer who has been trained in the detection of fetal malformations, at 14-17 weeks gestation. This examination should also include fetal cardiac echography Three additional ultrasound examinations are suggested during pregnancy: the first, performed by the patient's obstetrician at 6-7 weeks for the exclusion of ectopic pregnancy, confirmation of fetal viability, dating, assessment of chorionicity in multiple gestations, and visualization of maternal adnexae. The other two, at 22-26 and 32-34 weeks, require less training and should be performed by an obstetrician who has been qualified in the sonographic detection of fetal anomalies. The advantages of early midtrimester targeted fetal systematic organ screening for the detection of fetal anomalies may dictate a global change.

Congenital Malformations in Neonates after irradiation of Rats During Pregnancy

International Nuclear Information System (INIS)

Abdel-Gawad, I.I.; Mohammad, M.H.M.

2000-01-01

Radiation is considered a teratogen during the whole period of embryonic development and fetal growth. However, the time of gestation at which irradiation takes place will affect the type of congenital malformation Induced. A study was carried out to observe various forms of congenital malformations induced after irradiation of pregnant rats to 1,2 and 3 Gy on the 9 th , 12 th and 15 th days of gestation. Various types of congenital malformations were observed in the neonates of irradiated animals as compared to controls. Most of the malformations were observed in neonates of animals irradiated with 2 and 3 Gy on the 12 th and 15 th days of gestation. This confirms that developmental anomalies occur mostly during the period of organ development. Other periods of gestation are less vulnerable to, induction of malformation after irradiation. Some representative photographs of the malformations induced such as penguin shape, absence of tail, low set ears, growth retardation and others are illustrated in the text

Severe malformations of eelpout (Zoarces viviparus) fry are induced by maternal estrogenic exposure during early embryogenesis

DEFF Research Database (Denmark)

Morthorst, Jane Ebsen; Korsgaard, Bodil; Bjerregaard, Poul

2016-01-01

Pregnant eelpout were exposed via the water to known endocrine disrupting compounds (EDCs) to clarify if EDCs could be causing the increased eelpout fry malformation frequencies observed in coastal areas receiving high anthropogenic input. The presence of a teratogenic window for estrogen...... induced by EE2 (5.7 and 17.8 ng/L) but not by 4-t-OP and pyrene. A critical period for estrogen-induced fry malformations was identified and closed between 14 and 22 days post fertilization (dpf). Exposure to 17β-estradiol (E2) between 0 and 14 dpf caused severe malformations and severity increased...... the closer exposure start was to fertilization, whereas malformations were absent by exposure starting later than 14 dpf. Data on ovarian fluid volume and larval length supported the suggested teratogenic window. Larval mortality also increased when exposure started right after fertilization....

Acquired CNS lesions in fetal MRI; Erworbene ZNS-Laesionen im fetalen MRT

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Reith, W.; Pogledic, I. [Universitaetsklinikum des Saarlandes, Homburg/Saar, Klinik fuer Diagnostische und Interventionelle Neuroradiologie, Homburg/Saar (Germany)

2013-02-15

Acquired central nervous system (CNS) lesions are often subtle; therefore, the prenatal diagnosis of these lesions is extremely important. The fetal ultrasound examination and magnetic resonance imaging (MRI) are two important imaging methods that give an insight into these types lesions. The method of choice during pregnancy is still fetal ultrasound; however, fetal MRI is important when there are certain pathologies, e.g. periventricular leukomalacia (PVL) or malformations of the vein of Galen. In this manner clinicians can plan further therapy after childbirth in advance (e.g. cerebral angiography or embolization). (orig.) [German] Die erworbenen ZNS-Laesionen sind oft subtil, und eine praezise praenatale Diagnostik ist in diesen Faellen besonders wichtig. Die fetale Sonographie und das fetale MRT koennen hierzu einen relevanten Beitrag leisten. Die Sonographie ist immer noch die Untersuchungsmethode der Wahl waehrend der Schwangerschaft. Insbesondere bei bestimmten Pathologien wie der periventrikulaeren Leukomalazie (PVL) oder einer V. -Galeni-Malformation ist das fetale MRT sehr hilfreich, um nach der Geburt die entsprechenden weitergehenden Massnahmen, wie eine zerebrale Angiographie und Embolisation, fruehzeitig zu planen. (orig.)

Relationship between Cough-Associated Changes in CSF Flow and Disease Severity in Chiari I Malformation: An Exploratory Study Using Real-Time MRI.

Science.gov (United States)

Bezuidenhout, A F; Khatami, D; Heilman, C B; Kasper, E M; Patz, S; Madan, N; Zhao, Y; Bhadelia, R A

2018-05-10

Currently no quantitative objective test exists to determine disease severity in a patient with Chiari I malformation. Our aim was to correlate disease severity in symptomatic patients with Chiari I malformation with cough-associated changes in CSF flow as measured with real-time MR imaging. Thirteen symptomatic patients with Chiari I malformation (tonsillar herniation of ≥5 mm) were prospectively studied. A real-time, flow-sensitized pencil-beam MR imaging scan was used to measure CSF stroke volume during rest and immediately following coughing and relaxation periods (total scan time, 90 seconds). Multiple posterior fossa and craniocervical anatomic measurements were also obtained. Patients were classified into 2 groups by neurosurgeons blinded to MR imaging measurements: 1) nonspecific Chiari I malformation (5/13)-Chiari I malformation with nonspecific symptoms like non-cough-related or mild occasional cough-related headache, neck pain, dizziness, paresthesias, and/or trouble swallowing; 2) specific Chiari I malformation (8/13)-patients with Chiari I malformation with specific symptoms and/or objective findings like severe cough-related headache, myelopathy, syringomyelia, and muscle atrophy. The Spearman correlation was used to determine correlations between MR imaging measurements and disease severity, and both groups were also compared using a Mann-Whitney U test. There was a significant negative correlation between the percentage change in CSF stroke volume (resting to postcoughing) and Chiari I malformation disease severity ( R = 0.59; P = .03). Mann-Whitney comparisons showed the percentage change in CSF stroke volume (resting to postcoughing) to be significantly different between patient groups ( P = .04). No other CSF flow measurement or anatomic measure was significantly different between the groups. Our exploratory study suggests that assessment of CSF flow response to a coughing challenge has the potential to become a valuable objective noninvasive

Severe Klippel-Feil syndrome with Mondini malformation of inner ear

OpenAIRE

Alaqeel, Aqeel Abdullah

2014-01-01

Klippel-Feil syndrome is defined as the fusion of cervical vertebra with associated congenital anomalies but was rarely reported to be associated with Mondini Malformation. We report a newborn girl with severe neck extension, computed tomography (CT) of the neck after birth showed fusion of the fifth, sixth, and seventh cervical vertebrae, compatible with Klippel-Feil Syndrome and CT temporal bone showed choclear dysplasia with incomplete number of turns that is compatible with Mondini Malfor...

CONGENITAL MALFORMATIONS OF THE FETUS, INCOMPATIBLE WITH LIFE, STRUCTURE, THEIR COMBINATION WITH CHANGES IN THE PLACENTA

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Екатерина Валерьевна Коломбет

2018-01-01

Conclusion. The structure of the detection of congenital fetal malformations, in the groups studied in the place I have malformations of the cardiovascular system, on the II – defects of the central nervous system, on III – multiple malformations. Often met with malformations of the umbilical cord than the placenta. On the I place among the signs of the pathological structure of the umbilical cord was a thin umbilical cord, on II – the false nodes of the umbilical cord, on III – the true ones.

Congenital malformation and fetal mortality trends in counties surrounding Oak Ridge

International Nuclear Information System (INIS)

Shank, K.E.; Easterly, C.D.; Oakes, T.W.

1979-12-01

Stillbirth and congenital malformation death data have been evaluated for counties surrounding the Oak Ridge nuclear facilities. The observed values were compared with expected values, based on state of Tennessee and East Tennessee rates, for three time periods: prior to the existence of the nuclear facilities; the early years of operation; and the later years of operation. Oak Ridge, which is the closest city to the nuclear facilities, had significantly fewer stillbirths and no difference in congenital malformations as compared with the state or East Tennessee. No time trend was observed in the 8-county data which could be associated with the higher levels of radioactive releases during the 1944 to 1957 period followed by a period of lesser releases in the 1958 to 1971 period. However, a clustering of stillbirths was found for the last time period. In the study, no significant relationship was found between the occurrence of stillbirths and congenital malformation deaths

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

Energy Technology Data Exchange (ETDEWEB)

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

2002-08-01

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

Successful treatment of two cases of urorectal septum malformation sequence with oligohydramnios and severe respiratory failure

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Sekiguchi K

2013-03-01

Full Text Available Kazuhito Sekiguchi, Daijiro Takahashi, Takehiko Hiroma, Tomohiko Nakamura Division of Neonatology, Nagano Children's Hospital, Nagano, Japan Abstract: Urorectal septum malformation sequence can be diagnosed prenatally. We report herein the successful treatment of severe respiratory failure in two patients with urorectal septum malformation sequence and prenatally diagnosed oligohydramnios. The patients showed significant hypoxic deterioration and persistent pulmonary artery hypertension soon after birth. We used high-frequency ventilation (HFO, nitric oxide (NO, and extracorporeal membrane oxygenation (ECMO. The patients were successfully weaned from ECMO and artificial ventilation and discharged to home. Although termination of the pregnancy has often been selected for fetuses with oligohydramnios-related urorectal septum malformation sequence, our results suggest the opportunity for these fetuses to be treated using respiratory supports including HFO, NO, and ECMO after birth. Keywords: urorectal septum malformation sequence, oligohydramnios, pulmonary hypoplasia

Fetal MRI of pathological brain development

International Nuclear Information System (INIS)

Brugger, P.C.; Prayer, D.

2006-01-01

Because of the superior tissue contrast, high spatial resolution, and multiplanar capabilities, fetal magnetic resonance imaging (MRI) can depict fetal brain pathologies with high accuracy. Pathological fetal brain development may result from malformations or acquired conditions. Differentiation of these etiologies is important with respect to managing the actual pregnancy or counseling future pregnancies. As a widened ventricular system is a common hallmark of both maldevelopment and acquired conditions, it may cause problems in the differential diagnosis. Fetal MRI can provide detailed morphological information, which allows refinement of the diagnosis of ventricular enlargement in a large number of cases. Systematic work-up of morphological details that may be recognized on MR images provides an approach for achieving a correct diagnosis in cases of ventricle enlargement. (orig.) [de

Forebrain development in fetal MRI: evaluation of anatomical landmarks before gestational week 27

International Nuclear Information System (INIS)

Schmook, Maria T.; Weber, Michael; Kasprian, Gregor; Nemec, Stefan; Prayer, Daniela; Brugger, Peter C.; Krampl-Bettelheim, Elisabeth

2010-01-01

Forebrain malformations include some of the most severe developmental anomalies and require early diagnosis. The proof of normal or abnormal prosencephalic development may have an influence on further management in the event of a suspected fetal malformation. The purpose of this retrospective study was to evaluate the detectability of anatomical landmarks of forebrain development using in vivo fetal magnetic resonance imaging (MRI) before gestational week (gw) 27. MRI studies of 83 singleton fetuses (gw 16-26, average ±sd: gw 22 ± 2) performed at 1.5 Tesla were assessed. T2-weighted (w) fast spin echo, T1w gradient-echo and diffusion-weighted sequences were screened for the detectability of anatomical landmarks as listed below. The interhemispheric fissure, ocular bulbs, corpus callosum, infundibulum, chiasm, septum pellucidum (SP), profile, and palate were detectable in 95%, 95%, 89%, 87%, 82%, 81%, 78%, 78% of cases. Olfactory tracts were more easily delineated than bulbs and sulci (37% versus 18% and 8%), with significantly higher detection rates in the coronal plane. The pituitary gland could be detected on T1w images in 60% with an increasing diameter with gestational age (p=0.041). The delineation of olfactory tracts (coronal plane), chiasm, SP and pituitary gland were significantly increased after week 21 (p<0.05). Pathologies were found in 28% of cases. This study provides detection rates for anatomical landmarks of forebrain development with fetal MRI before gw 27. Several anatomical structures are readily detectable with routine fetal MRI sequences; thus, if these landmarks are not delineable, it should raise the suspicion of a pathology. Recommendations regarding favorable sequences/planes are provided. (orig.)

Forebrain development in fetal MRI: evaluation of anatomical landmarks before gestational week 27

Energy Technology Data Exchange (ETDEWEB)

Schmook, Maria T.; Weber, Michael; Kasprian, Gregor; Nemec, Stefan; Prayer, Daniela [Medical University of Vienna, Department of Radiology/Division of Neuro- and Musculoskeletal Radiology, Vienna (Austria); Brugger, Peter C. [Medical University of Vienna, Integrative Morphology Group, Center for Anatomy and Cell Biology, Vienna (Austria); Krampl-Bettelheim, Elisabeth [Department of Obstetrics and Gynecology / Division of Obstetrics and Feto-maternal Medicine, Vienna (Austria)

2010-06-15

Forebrain malformations include some of the most severe developmental anomalies and require early diagnosis. The proof of normal or abnormal prosencephalic development may have an influence on further management in the event of a suspected fetal malformation. The purpose of this retrospective study was to evaluate the detectability of anatomical landmarks of forebrain development using in vivo fetal magnetic resonance imaging (MRI) before gestational week (gw) 27. MRI studies of 83 singleton fetuses (gw 16-26, average {+-}sd: gw 22 {+-} 2) performed at 1.5 Tesla were assessed. T2-weighted (w) fast spin echo, T1w gradient-echo and diffusion-weighted sequences were screened for the detectability of anatomical landmarks as listed below. The interhemispheric fissure, ocular bulbs, corpus callosum, infundibulum, chiasm, septum pellucidum (SP), profile, and palate were detectable in 95%, 95%, 89%, 87%, 82%, 81%, 78%, 78% of cases. Olfactory tracts were more easily delineated than bulbs and sulci (37% versus 18% and 8%), with significantly higher detection rates in the coronal plane. The pituitary gland could be detected on T1w images in 60% with an increasing diameter with gestational age (p=0.041). The delineation of olfactory tracts (coronal plane), chiasm, SP and pituitary gland were significantly increased after week 21 (p<0.05). Pathologies were found in 28% of cases. This study provides detection rates for anatomical landmarks of forebrain development with fetal MRI before gw 27. Several anatomical structures are readily detectable with routine fetal MRI sequences; thus, if these landmarks are not delineable, it should raise the suspicion of a pathology. Recommendations regarding favorable sequences/planes are provided. (orig.)

Placenta previa and risk of major congenital malformations among singleton births in Finland.

Science.gov (United States)

Kancherla, Vijaya; Räisänen, Sari; Gissler, Mika; Kramer, Michael R; Heinonen, Seppo

2015-06-01

Placenta previa has been associated with adverse birth outcomes, but its association with congenital malformations is inconclusive. We examined the association between placenta previa and major congenital malformations among singleton births in Finland. We performed a retrospective population register-based study on all singletons born at or after 22+0 weeks of gestation in Finland during 2000 to 2010. We linked three national health registers: the Finnish Medical Birth Register, the Hospital Discharge Register, and the Register of Congenital Malformations, and examined several demographic and clinical characteristics among women with and without placenta previa, in association with major congenital malformations. We estimated adjusted odds ratios and 95% confidence intervals using multivariable logistic regression models. The prevalence of placenta previa was estimated as 2.65 per 1000 singleton births in Finland (95% confidence interval, 2.53-2.79). Overall, 6.2% of women with placenta previa delivered a singleton infant with a major congenital malformation, compared with 3.8% of unaffected women (p ≤ 0.001). Placenta previa was positively associated with almost 1.6-fold increased risk of major congenital malformations in the offspring, after controlling for maternal age, parity, fetal sex, smoking, socio-economic status, chorionic villus biopsy, In vitro fertilization, pre-existing diabetes, depression, preeclampsia, and prior caesarean section (adjusted odds ratio = 1.55; 95% confidence interval, 1.27-1.90). Using a large population-based study, we found that placenta previa was weakly, but significantly associated with an increased risk of major congenital malformations in singleton births. Future studies should examine the association between placenta previa and individual types of congenital malformations, specifically in high-risk pregnancies. © 2015 Wiley Periodicals, Inc.

Risk of major congenital malformations in relation to maternal overweight and obesity severity: cohort study of 1.2 million singletons.

Science.gov (United States)

Persson, Martina; Cnattingius, Sven; Villamor, Eduardo; Söderling, Jonas; Pasternak, Björn; Stephansson, Olof; Neovius, Martin

2017-06-14

Objective  To estimate the risks of major congenital malformations in the offspring of mothers who are underweight (body mass index (BMI) malformation, and subgroups of organ specific malformations diagnosed during the first year of life. Risk ratios were estimated using generalised linear models adjusted for maternal factors, sex of offspring, and birth year. Results  A total of 43 550 (3.5%) offspring had any major congenital malformation, and the most common subgroup was for congenital heart defects (n=20 074; 1.6%). Compared with offspring of normal weight mothers (risk of malformations 3.4%), the proportions and adjusted risk ratios of any major congenital malformation among the offspring of mothers with higher BMI were: overweight, 3.5% and 1.05 (95% confidence interval 1.02 to 1.07); obesity class I, 3.8% and 1.12 (1.08 to 1.15), obesity class II, 4.2% and 1.23 (1.17 to 1.30), and obesity class III, 4.7% and 1.37 (1.26 to 1.49). The risks of congenital heart defects, malformations of the nervous system, and limb defects also progressively increased with BMI from overweight to obesity class III. The largest organ specific relative risks related to maternal overweight and increasing obesity were observed for malformations of the nervous system. Malformations of the genital and digestive systems were also increased in offspring of obese mothers. Conclusions  Risks of any major congenital malformation and several subgroups of organ specific malformations progressively increased with maternal overweight and increasing severity of obesity. For women who are planning pregnancy, efforts should be encouraged to reduce adiposity in those with a BMI above the normal range. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

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Seidahmed Mohammed

2012-10-01

Full Text Available Abstract Background Hyperekplexia (HPX is a rare non-epileptic disorder manifesting immediately after birth with exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, and non-habituating generalized flexor spasm in response to tapping of the nasal bridge (glabellar tap which forms its clinical hallmark. The course of the disease is usually benign with spontaneous amelioration with age. The disorder results from aberrant glycinergic neurotransmission, and several mutations were reported in the genes encoding glycine receptor (GlyR α1 and β subunits, glycine transporter GlyT2 as well as two other proteins involved in glycinergic neurotransmission gephyrin and collybistin. Methods The phenotype of six newborns, belonging to Saudi Arabian kindred with close consanguineous marriages, who presented with hyperekplexia associated with severe brain malformation, is described. DNA samples were available from two patients, and homozygosity scan to determine overlap with known hyperkplexia genes was performed. Results The kindred consisted of two brothers married to their cousin sisters, each with three affected children who presented antenatally with excessive fetal movements. Postnatally, they were found to have microcephaly, severe hyperekplexia and gross brain malformation characterized by severe simplified gyral pattern and cerebellar underdevelopment. The EEG was normal and they responded to clonazepam. All of the six patients died within six weeks. Laboratory investigations, including metabolic screen, were unremarkable. None of the known hyperkplexia genes were present within the overlapping regions of homozygosity between the two patients for whom DNA samples were available. Conclusions We present these cases as a novel syndrome of lethal familial autosomal recessive hyperekplexia associated with microcephaly and severe brain malformation.

Fetal Valproate Syndrome with Limb Defects: An Indian Case Report

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Manisha Goyal

2016-01-01

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

Suspected fetal skeletal malformations or bone diseases: how to explore

International Nuclear Information System (INIS)

Cassart, Marie

2010-01-01

Skeletal dysplasias are a heterogeneous and complex group of conditions that affect bone growth and development and result in various anomalies in shape and size of the skeleton. Although US has proved reliable for the prenatal detection of skeletal abnormalities, the precise diagnosis of a dysplasia is often difficult to make before birth (especially in the absence of a familial history) due to their various phenotypic presentations, the variability in the time at which they manifest and often, the lack of precise molecular diagnosis. In addition to the accuracy of the antenatal diagnosis, it is very important to establish a prognosis. This is a clinically relevant issue as skeletal dysplasias may be associated with severe disability and may even be lethal. We will therefore describe the respective role of two-dimensional (2-D) US, three-dimensional (3-D) US and CT in the antenatal assessment of skeletal malformations. (orig.)

The effects of MRI on mouse embryos during fetal stage

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Nakamura, Takashi; Sakazaki, Takahiko; Itokawa, Yuka [Suzuka University of Medical Science, Koriyama (Japan)] (and others)

2006-06-15

The effects of Magnetic Resonance Imaging (MRI) on mouse embryos at the early stage of organogenesis were investigated. Pregnant ICR mice were exposed on day 8 of gestation to MRI at 0.5 T for 0.5 hour to 3 hours. The mortality rates of embryos or fetuses, the incidence of external malformations, fetal body weight and sex ratio were observed at day 18 of gestation. A significant increase in embryonic mortality was observed after exposure to either 0.5 T MRI for 0.5 hour or 2 hours. However, the exposure to MRI for 1 hour or 3 hours did not induce any significant increase in embryonic mortality when compared with control. External malformations such as exencephaly, cleft palate and anomalies of tail were observed in all experimental groups exposed to each MRI. A statistically significant increase of external malformations was observed in all groups treated with 0.5 T MRI for 0.5 hour and 3 hours. The incidence of external malformations in the mice group exposed to 0.5 T MRI for 0.5-hour was found to be higher than those of mice group exposed to 0.5 T MRI for 2 hours. The effects of MRI on the external malformations might not to be dose-dependent. There was no statistically significant difference in fetal body weight and sex ratio among each MRI exposure groups.

Prenatal diagnosis of concurrent facial and cerebral vascular malformation which caused congestive heart failure

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Behnaz Moradi

2017-12-01

Full Text Available Arteriovenous malformations (AVMs are rarely reported antenatally. Most in utero diagnosis of vascular malformation is related to vein of Galen malformation (VGM. We describe a case of simultaneously diagnosed pial arteriovenous fistula (AVF and facial vascular malformation in a 20 weeks old fetus. The dilated intracranial venous pouch appeared as a midline anechoic structure which was misdiagnosed as a VGM in her previous ultrasound exam. Another AVM was diagnosed in the same side of fetal face which fed by a branch of external carotid artery and communicated with the mentioned pial AVF. High output cardiac failure and hydrops were evident. To our knowledge this is the first report of prenatally detected combination of facial and cerebral vascular malformations at such as early pregnancy week.

Severe fetal and neonatal hyperthyroidism years after surgical treatment of maternal Graves' disease.

Science.gov (United States)

Dierickx, I; Decallonne, B; Billen, J; Vanhole, C; Lewi, L; De Catte, L; Verhaeghe, J

2014-02-01

Fetal/neonatal hyperthyroidism is a well-known complication of maternal Graves' disease with high concentrations of TSH-receptor antibodies (TRAb). Few data are available on the management of fetal hyperthyroidism in surgically treated Graves' disease. Clinical, ultrasound and biochemical data are reported in a fetus/neonate whose mother underwent a thyroidectomy > 10 years before and whose sibling was thin and hyperthyroid at birth. Maternal TRAb were persistently > 40 U/l; unequivocal signs of fetal hyperthyroidism were identified at 29 weeks gestational age (GA). The fetus was treated through maternal antithyroid drug (ATD) administration; the dose was reduced gradually once fetal tachycardia and valve dysfunction disappeared and normal T4 was confirmed by fetal blood sampling. Maternal euthyroidism was maintained. The neonate showed normal growth for GA and T4 concentration at birth but severe hyperthyroidism relapsed from day 13 until day 58. TSH remained strongly suppressed throughout the pre- and postnatal course. Prenatal ATD in a taper-off regime allowed normal T4 and growth in a hyperthyroid fetus from a thyroidectomised Graves' mother. Fetal TSH cannot be used to adjust the ATD dose. Prenatal ATD appears to postpone the onset but does not affect the severity or duration of the neonatal hyperthyroid flare.

Neonatal Hemoperitoneum Secondary to Hemorrhage from Omental Venous Malformation

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So-Hyun Nam

2015-12-01

Full Text Available Hemoperitoneum in the neonate is uncommon. We report our experience with a neonate who suddenly developed hemoperitoneum in late gestation. Ascites with right pleural effusion initially suggested fetal hydrops. However, a decrease in hemoglobin with bloody ascites from the paracentesis gave the impression of hemoperitoneum. Ultrasonography and computed tomography showed no abnormality in the solid organs. Using 3-mm laparoscopic exploration, we found the omental mass and excised it. It was histologically confirmed as a venous malformation. Venous malformation of the omentum with significant bleeding requiring exploration is a very rare condition in the neonate, but it should be considered as a cause of neonatal hemoperitoneum.

Implications of a first trimester Down syndrome screening program on timing of malformation detection

DEFF Research Database (Denmark)

Jakobsen, Tanja Roien; Søgaard, Kirsten; Tabor, Ann

2011-01-01

To determine the impact which introduction of the 11-14 week scan has had on the gestational age at which fetal malformations are detected by ultrasound in an unselected population of pregnant women....

A new gestational diabetes mellitus model: hyperglycemia-induced eye malformation via inhibition of Pax6 in the chick embryo

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Shi-Jie Zhang

2016-02-01

Full Text Available Gestational diabetes mellitus (GDM is one of the leading causes of fetal malformations. However, few models have been developed to study the underlying mechanisms of GDM-induced fetal eye malformation. In this study, a high concentration of glucose (0.2 mmol per egg was injected into the air sac of chick embryos on embryo development day (EDD 1 to develop a hyperglycemia model. Results showed that 47.3% of embryonic eye malformation happened on EDD 5. In this model, the key genes regulating eye development, Pax6, Six3 and Otx2, were downregulated by hyperglycemia. Among these genes, the expression of Pax6 was the most vulnerable to hyperglycemia, being suppressed by 70%. A reduction in Pax6 gene expression induced eye malformation in chick embryos. However, increased expression of Pax6 in chick embryos could rescue hyperglycemia-induced eye malformation. Hyperglycemia stimulated O-linked N-acetylglucosaminylation, which caused oxidative stress in chick embryos. Pax6 was found to be vulnerable to free radicals, but the antioxidant edaravone could restore Pax6 expression and reverse eye malformation. These results illustrated a successful establishment of a new chick embryo model to study the molecular mechanism of hyperglycemia-induced eye malformation. The suppression of the Pax6 gene is probably mediated by oxidative stress and could be a crucial target for the therapy of GDM-induced embryonic eye malformation.

A new gestational diabetes mellitus model: hyperglycemia-induced eye malformation via inhibition of Pax6 in the chick embryo.

Science.gov (United States)

Zhang, Shi-Jie; Li, Yi-Fang; Tan, Rui-Rong; Tsoi, Bun; Huang, Wen-Shan; Huang, Yi-Hua; Tang, Xiao-Long; Hu, Dan; Yao, Nan; Yang, Xuesong; Kurihara, Hiroshi; Wang, Qi; He, Rong-Rong

2016-02-01

Gestational diabetes mellitus (GDM) is one of the leading causes of fetal malformations. However, few models have been developed to study the underlying mechanisms of GDM-induced fetal eye malformation. In this study, a high concentration of glucose (0.2 mmol per egg) was injected into the air sac of chick embryos on embryo development day (EDD) 1 to develop a hyperglycemia model. Results showed that 47.3% of embryonic eye malformation happened on EDD 5. In this model, the key genes regulating eye development, Pax6, Six3 and Otx2, were downregulated by hyperglycemia. Among these genes, the expression of Pax6 was the most vulnerable to hyperglycemia, being suppressed by 70%. A reduction in Pax6 gene expression induced eye malformation in chick embryos. However, increased expression of Pax6 in chick embryos could rescue hyperglycemia-induced eye malformation. Hyperglycemia stimulated O-linked N-acetylglucosaminylation, which caused oxidative stress in chick embryos. Pax6 was found to be vulnerable to free radicals, but the antioxidant edaravone could restore Pax6 expression and reverse eye malformation. These results illustrated a successful establishment of a new chick embryo model to study the molecular mechanism of hyperglycemia-induced eye malformation. The suppression of the Pax6 gene is probably mediated by oxidative stress and could be a crucial target for the therapy of GDM-induced embryonic eye malformation. © 2016. Published by The Company of Biologists Ltd.

MATERNAL SERUM ALPHA-FETOPROTEIN LEVELS AND FETAL-OUTCOME IN EARLY 2ND-TRIMESTER OLIGOHYDRAMNIOS

NARCIS (Netherlands)

LOS, FJ; HAGENAARS, AM; MARRINK, J; COHENOVERBEEK, TE; GAILLARD, JLJ; BRANDENBURG, H

Early second-trimester oligohydramnios was associated with normal maternal serum alpha-fetoprotein (MSAFP) levels in nine out of 26 cases (35 per cent). Congenital malformations of the fetal urinary tract resulting in fetal anuria were present in nine cases; in seven of them, normal MSAFP levels

Congenital cystic lung malformations

International Nuclear Information System (INIS)

Stoever, B.; Scheer, I.; Bassir, C.; Chaoui, R.; Henrich, W.; Schwabe, M.; Wauer, R.

2006-01-01

Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

Effect of assisted reproductive technology on fetal brain development assessed by prenatal ultrasonography.

Science.gov (United States)

Yin, Linliang; Xu, Yongle; Li, Hong; Ling, Chen; Choy, Kwong Wai; Xia, Fei; Deng, Xuedong

2015-01-01

The aim was to evaluate whether assisted reproductive technology (ART) affects the development of the fetal central nervous system (CNS). This study was carried out on women with singleton pregnancies, including 427 women who became pregnant by ART and 32,859 women with natural conceptions (NCs). The cavum septum pellucidum (CSP) width, transverse cerebellar diameter (TCD), cisterna magna (CM) depth, and lateral ventricle width were measured by ultrasound for 72 normal ART fetuses and 201 normal NC fetuses. The malformation rate of CNS was determined for both groups. In both groups, significant positive correlations with gestational age were found for CSP width (ART: r=0.7841, NC: r=0.7864; P0.05). The development and malformation rate of the fetal CNS is not significantly different between ART and NC fetuses, thus, ART does not affect the development of the fetal brain.

Radiosurgery for cerebral arteriovenous malformation during pregnancy: A case report focusing on fetal exposure to radiation

Science.gov (United States)

Nagayama, Kazuki; Kurita, Hiroki; Tonari, Ayako; Takayama, Makoto; Shiokawa, Yoshiaki

2010-01-01

Introduction: We present the case of a pregnant woman who underwent linear accelerator (LINAC)-based stereotactic radiosurgery (SRS) and we discuss the fetal exposure to radiation. Clinical Presentation: A 20-year-old woman at 18 weeks of gestation presented with right cerebral hemorrhage and underwent urgent evacuation of the hematoma. She recovered well after surgery, but cerebral angiography after the surgery revealed a small deeply seated arteriovenous malformation (AVM) in the right frontal lobe extending to the right basal ganglia. Methods and Results: We examined the diffuse AVM and treated it with LINAC-based SRS at 24 weeks of gestation. Before SRS, the fetus was exposed to a radiation dose of 8.26 mGy, which was estimated by conducting an experiment using an adult RANDO phantom, and a radiophotoluminescent (RPL) glass rod dosimeter (GRD) system. The patient underwent Caesarean delivery at 36 weeks of gestation and gave birth to a healthy baby. Conclusion: The exposure of fetus to radiation during SRS was exceedingly low. SRS can be used as an alternative treatment to microsurgery for resolving small deeply seated AVMs even in pregnant patients. PMID:22028762

Fetal Echocardiography and Indications

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Melih Atahan Güven

2008-09-01

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

Effects of a 4.7 T static magnetic field on fetal development in ICR mice

International Nuclear Information System (INIS)

Okazaki, Ryuji; Ootsuyama, Akira; Uchida, Soshi; Norimura, Toshiyuki

2001-01-01

In order to determine the effects of a 4.7 T static magnetic field (SMF) on fetal development in mice, we evaluated fetal teratogenesis and endochondral ossification following exposure in utero. Pregnant ICR mice were exposed to a 4.7 T SMF from day 7.5 to 9.5 of gestation in a whole-body dose, and sacrificed on day 18.5 of gestation. We examined with incidence of prenatal death, external malformations and fetal skeletal malformations. There were no significant differences observed in the incidence of prenatal death and/or malformations between SMF-exposed mice and control mice. Further, we evaluated the immunoreactivity for the vascular endothelial growth factor (VEGF), which is implicated in angiogenesis and osteogenesis, in the sternum of fetal mice following magnetic exposure. Our studies also indicated that on day 16.5 of gestation following SMF exposure, the immunoreactivity for VEGF was increased compared to unexposed controls. However, it was decreased in the exposed group compared to the control group on day 18.5 of gestation. DNA and proteoglycan (PG) synthesis were also measured in rabbit costal growth plate chondrocytes in vitro. No significant differences were observed in DNA synthesis between the SMF exposed chondrocytes and the control chondrocytes; however, PG synthesis in SMF exposed chondrocytes increased compared to the controls. Based on these results, we suggest that while SMF exposure promoted the endochondral ossification of chondrocytes, it did not induce any harmful effects on fetal development in ICR mice. (author)

Effects of a 4.7 T static magnetic field on fetal development in ICR mice

Energy Technology Data Exchange (ETDEWEB)

Okazaki, Ryuji; Ootsuyama, Akira; Uchida, Soshi; Norimura, Toshiyuki [Univ. of Occupational and Environmental Health, Kitakyushu, Fukuoka (Japan). School of Medicine

2001-09-01

In order to determine the effects of a 4.7 T static magnetic field (SMF) on fetal development in mice, we evaluated fetal teratogenesis and endochondral ossification following exposure in utero. Pregnant ICR mice were exposed to a 4.7 T SMF from day 7.5 to 9.5 of gestation in a whole-body dose, and sacrificed on day 18.5 of gestation. We examined with incidence of prenatal death, external malformations and fetal skeletal malformations. There were no significant differences observed in the incidence of prenatal death and/or malformations between SMF-exposed mice and control mice. Further, we evaluated the immunoreactivity for the vascular endothelial growth factor (VEGF), which is implicated in angiogenesis and osteogenesis, in the sternum of fetal mice following magnetic exposure. Our studies also indicated that on day 16.5 of gestation following SMF exposure, the immunoreactivity for VEGF was increased compared to unexposed controls. However, it was decreased in the exposed group compared to the control group on day 18.5 of gestation. DNA and proteoglycan (PG) synthesis were also measured in rabbit costal growth plate chondrocytes in vitro. No significant differences were observed in DNA synthesis between the SMF exposed chondrocytes and the control chondrocytes; however, PG synthesis in SMF exposed chondrocytes increased compared to the controls. Based on these results, we suggest that while SMF exposure promoted the endochondral ossification of chondrocytes, it did not induce any harmful effects on fetal development in ICR mice. (author)

Ultrasound studies of the effects of certain poisonous plants on uterine function and fetal development in livestock.

Science.gov (United States)

Bunch, T D; Panter, K E; James, L F

1992-05-01

Ingestion of locoweed (Astragalus spp. and Oxytropis spp.) by pregnant livestock may result in fetal malformations, delayed placentation, reduced placental and uterine vascular development, hydrops amnii, hydrops allantois, abnormal cotyledonary development, interruption of fetal fluid balance, and abortion. Ultrasonography of pregnant sheep fed locoweed demonstrated that abortion was first preceded by changes in fetal heart rate and strength of contraction and structural changes of the cotyledons, followed by increased accumulation of fetal fluid within the placental membranes and death of the fetus. During pregnancy the toxic agent in locoweed (swainsonine) apparently passes through the placental barrier to the fetus and during lactation through the milk to the neonate. Poison-hemlock (Conium maculatum), wild tree tobacco (Nicotiana glauca), and lunara lupine (Lupinus formosus) all contain piperidine alkaloids and induce fetal malformations, including multiple congenital contractures and cleft palate in livestock. Ultrasonography studies of pregnant sheep and goats gavaged with these plants during 30 to 60 d of gestation suggests that the primary cause of multiple congenital contractures and cleft palate is the degree and the duration of the alkaloid-induced fetal immobilization.

Interrupção da gestação após o diagnóstico de malformação fetal letal: aspectos emocionais Termination of pregnancy after the diagnosis of lethal fetal malformation: emotional aspects

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Gláucia Rosana Guerra Benute

2006-01-01

experienced with termination of pregnancy after the diagnosis of lethal fetal malformation. METHODS: thirty-five pregnant women who underwent termination of pregnancy for lethal fetal anomaly after judicial permission were interviewed. The most frequent fetal malformation was anencephaly (71.5%. The patients were submitted to an open interview as soon as the diagnosis of fetal malformation was confirmed, allowing them to express their feelings and stimulating them to think about asking for termination of pregnancy. The mean time spent until the judicial agreement was 16.6 days. The women who requested and were submitted to the procedure of abortion were invited to return for psychological evaluation after 30-60 days. At this moment, a semi-structured interview was performed to find the emotional aspects and feelings that existed. RESULTS: thirty-five patients were interviewed. The decision-making feelings about termination of pregnancy were negative for 60%, 51.4% declared that they had no doubts about the assumed decision and 65.7% declared that their own opinion was more important for decision than anyone else's. Most of the women (89% affirmed to remember the facts about the procedure that they experienced, 91% affirmed that they would have the same attitude in the case of another similar situation in the future and 60% declared that they would advise someone to opt for termination of pregnancy if asked about the same situation. CONCLUSIONS: the anguish experienced showed that the process of thinking is very important for the decision-making process and posterior satisfaction with the assumed posture. The psychological follow-up allows to review the moral and cultural values in order to help the decision-making process with the aim of minimizing the suffering.

Screening for congenital malformations by ultrasonography in the general population of pregnant women

DEFF Research Database (Denmark)

Tabor, Ann; Zdravkovic, Milica; Perslev, Annette

2003-01-01

. Fetuses with a prenatally undetected malformation were more often examined by more than one sonographer than fetuses without congenital malformations. Workload or monotony did not seem to affect the efficacy of screening. There was a trend towards a lower detection rate at midday and when most......OBJECTIVES: To assess whether the efficacy of screening for fetal malformations is affected by patient-, staff-, team- or work environment-related factors. METHODS: A prospective cohort study was carried out at a Danish university hospital with 4000 deliveries per year. In total, 7963 fetuses were...... malformations were detected in 100 fetuses or infants, corresponding to an incidence of 1.3%. The prenatal DR was 60%. High maternal body mass index (BMI) was associated with a lower DR, while the presence of twins, the gestational age at time of screening and the sonographer's level of experience were not...

Magnetic resonance imaging features of complex Chiari malformation variant of Chiari 1 malformation

Energy Technology Data Exchange (ETDEWEB)

Moore, Hannah E. [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States); Moore, Kevin R. [University of Utah School of Medicine, Department of Radiology, Salt Lake City, UT (United States); Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

2014-11-15

Complex Chiari malformation is a subgroup of Chiari 1 malformation with distinct imaging features. Children with complex Chiari malformation are reported to have a more severe clinical phenotype and sometimes require more extensive surgical treatment than those with uncomplicated Chiari 1 malformation. We describe reported MR imaging features of complex Chiari malformation and evaluate the utility of craniometric parameters and qualitative anatomical observations for distinguishing complex Chiari malformation from uncomplicated Chiari 1 malformation. We conducted a retrospective search of the institutional imaging database using the keywords ''Chiari'' and ''Chiari 1'' to identify children imaged during the 2006-2011 time period. Children with Chiari 2 malformation were excluded after imaging review. We used the first available diagnostic brain or cervical spine MR study for data measurement. Standard measurements and observations were made of obex level (mm), cerebellar tonsillar descent (mm), perpendicular distance to basion-C2 line (pB-C2, mm), craniocervical angle (degrees), clivus length, and presence or absence of syringohydromyelia, basilar invagination and congenital craniovertebral junction osseous anomalies. After imaging review, we accessed the institutional health care clinical database to determine whether each subject clinically met criteria for Chiari 1 malformation or complex Chiari malformation. Obex level and craniocervical angle measurements showed statistically significant differences between the populations with complex Chiari malformation and uncomplicated Chiari 1 malformation. Cerebellar tonsillar descent and perpendicular distance to basion-C2 line measurements trended toward but did not meet statistical significance. Odontoid retroflexion, craniovertebral junction osseous anomalies, and syringohydromyelia were all observed proportionally more often in children with complex Chiari malformation than in

Fetal Doppler to predict cesarean delivery for non-reassuring fetal status in the severe small-for-gestational-age fetuses of late preterm and term.

Science.gov (United States)

Jo, Ji Hye; Choi, Yong Hee; Wie, Jeong Ha; Ko, Hyun Sun; Park, In Yang; Shin, Jong Chul

2018-03-01

To evaluate the significance of fetal Doppler parameters in predicting adverse neonatal outcomes and the risk of cesarean delivery due to non-reassuring fetal status, in severe small for gestational age (SGA) fetuses of late preterm and term gestation. Fetal brain and umbilical artery (UmA) Doppler parameters of cerebroplacental ratio (CPR) and UmA pulsatility index (PI) were evaluated in a cohort of 184 SGA fetuses between 34 and 41 weeks gestational age, who were less than the 5th percentile. The risks of neonatal morbidities and cesarean delivery due to non-reassuring fetal status were analyzed. Univariate analysis revealed that abnormal CPR was significantly associated with cesarean delivery due to non-reassuring fetal status ( P =0.018), but not with neonatal morbidities. However, abnormal CPR did not increase the risk of cesarean delivery due to non-reassuring fetal status in multivariate logistic regression analysis. Abnormal CPR with abnormal PI of UmA was associated with low Apgar score at 1 minute ( P =0.048), mechanical ventilation ( P =0.013) and cesarean delivery due to non-reassuring fetal status ( P cesarean delivery for non-reassuring fetal status (adjusted odds ratio, 7.0; 95% confidence interval, 1.2-41.3; P =0.033), but did not increase risk of low Apgar score or mechanical ventilation in multivariate logistic regression analysis. Abnormal CPR with abnormal PI of UmA increases the risk of cesarean delivery for non-reassuring fetal status, in severe SGA fetuses of late preterm and term. Monitoring of CPR and PI of UmA can help guide management including maternal hospitalization and fetal monitoring.

Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature.

Science.gov (United States)

Bağci, Soyhan; Müller, Andreas; Franz, Axel; Heydweiller, Andreas; Berg, Christoph; Nöthen, Markus M; Bartmann, Peter; Reutter, Heiko

2010-01-01

Identification of the 47,XXX karyotype often occurs adventitiously during prenatal fetal karyotyping in cases of advanced maternal age. Although most females with 47,XXX appear healthy at birth, various types of congenital malformations have been reported, of which urinary tract anomalies are the most frequent. We report on 2 newborns with 47,XXX and congenital cardiac defects, one of whom had duodenal atresia and the other an occipital encephalocele. This expands the spectrum of malformations reported in association with the triple-X syndrome. We also present a review of the literature on non-urinary tract malformations in females with 47,XXX. We conclude that prenatal identification of the 47,XXX karyotype is an indication for detailed fetal ultrasonography which should include examination of multiple organ systems. Such prenatal screening for possible associated congenital malformations should help to ensure optimal perinatal clinical management of 47,XXX cases. 2010 S. Karger AG, Basel.

INTRAUTERINE FETAL DEATH CASES AT TERTIARY CENTER

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Babu Lal Bishnoi

2018-01-01

Full Text Available BACKGROUND Intrauterine fetal death is a tragic event for the parents and a great cause of stress for the caregiver. It is an important indicator of maternal and perinatal health of a given population. This study was undertaken to study the maternal and fetal factors associated with intrauterine fetal death. Aim and Objective- This was an Analytical study aimed to evaluate and understand the prevalence, socio-epidemiological and etiological factors of IUFD methodology should not be mixed with aims and objectives MATERIALS AND METHODS The study was carried out at March 2017 to June 2017 (4 months study which was conducted at Dr. S. N. Medical College, Jodhpur, Rajasthan. The details were entered in a preformed proforma. IUD is defined as fetal death beyond 20 weeks of gestation and/or birth weight >500g. The details of complaints at admission, obstetrics history, menstrual history, examination findings, per vaginal examination findings, mode and method of delivery and fetal outcomes and investigation reports were recorded. RESULTS A total of 227 intrauterine fetal deaths were reported amongst 6264 deliveries conducted during the study period. The incidence rate of intrauterine fetal death was 36/1000 live births. 192 (84.56% deliveries were unbooked and unsupervised and 133 (58.59% belonged to rural population and 126 (55.5% were preterm and 221 (97.55% were singleton pregnancy. Among the identifiable causes hypertensive disorders (24.22% and severe anemia (13.10% were most common followed by placental causes (9.97%. Congenital malformations were responsible for 12.39% and unidentifiable causes were 11.01%. Induction was done in 103 patients, 94 patients had spontaneous onset of labour and caesarean section was done in 30 patients. Incidence of intrauterine foetal demise gradually decreased as parity advanced. CONCLUSION Institutional deliveries should be promoted to prevent intrapartum fetal deaths. Decrease in the incidence of IUD would

Pattern of Gross Congenital Malformations in a Tertiary Referral Hospital in Northeast India.

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Baruah, Jenita; Kusre, Giriraj; Bora, Reeta

2015-10-01

To explore the prevalence of structural congenital malformations among newborns and study some of the fetal and maternal characteristics of the malformed babies in North east India where such systematic study on congenital malformation has not been undertaken before. A cross sectional study was undertaken from May 2010 through Feb 2013 for estimation of gross congenital malformations among live birth and stillbirth children born in Assam Medical College. All live births were clinically examined for detection of gross congenital malformations and autopsy was carried out on still births and neonates dying within 24 h of birth to detect gross congenital malformations in the internal organs. All malformations were classified as per ICD 10 classification. The mothers of the newborns with congenital malformations were interviewed in a predesigned, pretested proforma. The variables included maternal age, antenatal registration, antenatal history of drug intake, consanguinity and previous history of malformations. Statistical analysis was done using chi square test. A total 18,192 births including live births and still births were examined and 206 cases of structural malformations were observed. Prevalence of congenital malformations was 1.2 % of the total live births. Distribution of malformation was predominant among males than in females (60.67 vs. 37.37 %; p malformation of the cardiovascular system was found to be very low. Malformations among stillbirths and newborns born to unregistered mothers were significantly more. Percentage of malformations in babies born to mothers of more than 30 y of age was higher than other age groups (2.2 %). Occurrence of malformations in low birth weight babies were significantly more (p malformations was 1.2 % of the total live births. Musculoskeletal system was the most common system involved. Congenital malformations were significantly associated with sex of the new born, registration of the mother and birth weight of the

RISK FACTORS IN CHILD CONGENITAL MALFORMATIONS

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Alina-Costina LUCA; Mirabela SUBOTNICU

2015-01-01

Congenital heart malformations are among the most common congenital malformations. Congenital heart malformations occur due to genetic and environmental factors during embryonic morphogenesis period of the heart. About 25% of these malformations are severe, requiring intervention immediately after birth or in infancy. Abnormalities of structure and function of the heart and great vessels are the consequence of teratogenic factors occurring between day 19 and 45 of gestation. (Yagel et al...

Fetal Eye Movements on Magnetic Resonance Imaging

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Woitek, Ramona; Kasprian, Gregor; Lindner, Christian; Stuhr, Fritz; Weber, Michael; Schöpf, Veronika; Brugger, Peter C.; Asenbaum, Ulrika; Furtner, Julia; Bettelheim, Dieter; Seidl, Rainer; Prayer, Daniela

2013-01-01

Objectives Eye movements are the physical expression of upper fetal brainstem function. Our aim was to identify and differentiate specific types of fetal eye movement patterns using dynamic MRI sequences. Their occurrence as well as the presence of conjugated eyeball motion and consistently parallel eyeball position was systematically analyzed. Methods Dynamic SSFP sequences were acquired in 72 singleton fetuses (17–40 GW, three age groups [17–23 GW, 24–32 GW, 33–40 GW]). Fetal eye movements were evaluated according to a modified classification originally published by Birnholz (1981): Type 0: no eye movements; Type I: single transient deviations; Type Ia: fast deviation, slower reposition; Type Ib: fast deviation, fast reposition; Type II: single prolonged eye movements; Type III: complex sequences; and Type IV: nystagmoid. Results In 95.8% of fetuses, the evaluation of eye movements was possible using MRI, with a mean acquisition time of 70 seconds. Due to head motion, 4.2% of the fetuses and 20.1% of all dynamic SSFP sequences were excluded. Eye movements were observed in 45 fetuses (65.2%). Significant differences between the age groups were found for Type I (p = 0.03), Type Ia (p = 0.031), and Type IV eye movements (p = 0.033). Consistently parallel bulbs were found in 27.3–45%. Conclusions In human fetuses, different eye movement patterns can be identified and described by MRI in utero. In addition to the originally classified eye movement patterns, a novel subtype has been observed, which apparently characterizes an important step in fetal brainstem development. We evaluated, for the first time, eyeball position in fetuses. Ultimately, the assessment of fetal eye movements by MRI yields the potential to identify early signs of brainstem dysfunction, as encountered in brain malformations such as Chiari II or molar tooth malformations. PMID:24194885

Fetal eye movements on magnetic resonance imaging.

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Woitek, Ramona; Kasprian, Gregor; Lindner, Christian; Stuhr, Fritz; Weber, Michael; Schöpf, Veronika; Brugger, Peter C; Asenbaum, Ulrika; Furtner, Julia; Bettelheim, Dieter; Seidl, Rainer; Prayer, Daniela

2013-01-01

Eye movements are the physical expression of upper fetal brainstem function. Our aim was to identify and differentiate specific types of fetal eye movement patterns using dynamic MRI sequences. Their occurrence as well as the presence of conjugated eyeball motion and consistently parallel eyeball position was systematically analyzed. Dynamic SSFP sequences were acquired in 72 singleton fetuses (17-40 GW, three age groups [17-23 GW, 24-32 GW, 33-40 GW]). Fetal eye movements were evaluated according to a modified classification originally published by Birnholz (1981): Type 0: no eye movements; Type I: single transient deviations; Type Ia: fast deviation, slower reposition; Type Ib: fast deviation, fast reposition; Type II: single prolonged eye movements; Type III: complex sequences; and Type IV: nystagmoid. In 95.8% of fetuses, the evaluation of eye movements was possible using MRI, with a mean acquisition time of 70 seconds. Due to head motion, 4.2% of the fetuses and 20.1% of all dynamic SSFP sequences were excluded. Eye movements were observed in 45 fetuses (65.2%). Significant differences between the age groups were found for Type I (p = 0.03), Type Ia (p = 0.031), and Type IV eye movements (p = 0.033). Consistently parallel bulbs were found in 27.3-45%. In human fetuses, different eye movement patterns can be identified and described by MRI in utero. In addition to the originally classified eye movement patterns, a novel subtype has been observed, which apparently characterizes an important step in fetal brainstem development. We evaluated, for the first time, eyeball position in fetuses. Ultimately, the assessment of fetal eye movements by MRI yields the potential to identify early signs of brainstem dysfunction, as encountered in brain malformations such as Chiari II or molar tooth malformations.

Prognostic factors of congenital diaphragmatic hernia accompanied by cardiovascular malformation.

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Takahashi, Shigehiro; Sago, Haruhiko; Kanamori, Yutaka; Hayakawa, Masahiro; Okuyama, Hiroomi; Inamura, Noboru; Fujino, Yuji; Usui, Noriaki; Taguchi, Tomoaki

2013-08-01

Congenital diaphragmatic hernia is associated with cardiovascular malformation. Many prognostic factors have been identified for isolated congenital diaphragmatic hernia; however, reports of concurrent congenital diaphragmatic hernia and cardiovascular malformation in infants are limited. This study evaluated congenital diaphragmatic hernia associated with cardiovascular malformation in infants. Factors associated with prognosis for patients were also identified. This retrospective cohort study was based on a Japanese survey of congenital diaphragmatic hernia patients between 2006 and 2010. Frequency and outcome of cardiovascular malformation among infants with congenital diaphragmatic hernia were examined. Severity of congenital diaphragmatic hernia and cardiovascular malformation were compared as predictors of mortality and morbidity. Cardiovascular malformation was identified in 76 (12.3%) of 614 infants with congenital diaphragmatic hernia. Mild cardiovascular malformation was detected in 19 (33.9%) and severe cardiovascular malformation in 37 (66.1%). Their overall survival rate at discharge was 46.4%, and the survival rate without morbidity was 23.2%. Mortality and morbidity at discharge were more strongly associated with severity of cardiovascular malformation (adjusted OR 7.69, 95%CI 1.96-30.27; adjusted OR 7.93, 95%CI 1.76-35.79, respectively) than with severity of congenital diaphragmatic hernia. The prognosis for infants with both congenital diaphragmatic hernia and cardiovascular malformation remains poor. Severity of cardiovascular malformation is a more important predictive factor for mortality and morbidity than severity of congenital diaphragmatic hernia. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

Regional Variations in the Prevalence of Major Congenital Malformations in Quebec: The Importance of Fetal Growth Environment.

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Zhao, Jin-Ping; Sheehy, Odile; Bérard, Anick

2015-01-01

Congenital anomalies are the consequence of a complex interaction between genetic predisposition and fetal environment. Based on the Congenital Anomalies Surveillance in Canada Report, between 1998 and 2007 the rate of congenital heart defects in Quebec was significantly higher than the Canadian average; no data on the overall prevalence of congenital anomalies for Quebec or data on regional variations in any province are available. To estimate the prevalence of major congenital malformations (MCMs) in all of the 17 administrative regions of Quebec. Using data from the Quebec Pregnancy Cohort, we included infants if they were born between January 1, 1998 and December 31, 2008. MCMs were identified within the infant's first year of life using validated ICD-9 and ICD-10 codes. The rate of MCMs was calculated and stratified on Quebec's administrative regions. Among 152,353 eligible infants, the prevalence of MCMs was 36.6 (all rates were reported as per 1,000 live births). The regions with the highest rate of MCMs were Lanaudière (48.1), Laval (45.8), and Mauricie (45.1). Regions with the lowest rate were Outaouais (13.4), Côte-Nord (19.1), Abitibi-Témiscamingue (27.5), Gaspésie-îles-de-la-Madeleine (27.9), and Saguenay-Lac-Saint-Jean (28.9). Congenital heart defects (10.3) and musculoskeletal anomalies (12.6) were the most common. Laval had the highest rate of heart defects (16.1), and Lanaudière had the highest rate of musculoskeletal anomalies (22.0). The central regions of Quebec had high rate of MCMs, whereas the relatively genetically homogenous peripheral regions of Quebec had lower rate of MCM, suggesting the importance of fetal growth environment in the etiology of MCMs in Quebec.

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

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

2006-02-15

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

Indications for fetal magnetic resonance imaging (MRI)

International Nuclear Information System (INIS)

Prayer, D.

2006-01-01

Indications to perform fetal magnetic resonance imaging (MRI) are composed of common ones related to methodological problems of ultrasound (US) assessment (such as for instance hydramnios) and special ones. The latter are related to MR capability of high-resolution soft tissue contrast and an extended field of view that allows visualization of the whole fetus, even in later stages of pregnancy. The most important indications include confirmation of US findings, work-up of malformations with respect to individual prognosis and genetic background, differentiation between acquired conditions and malformations, visualization of pathologies that have to be treated surgically immediately after birth, and morphological changes of the placenta. (orig.) [de

Parenteral exposure to pesticides and occurence of congenital malformations: hospital-based case-control study.

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Ueker, Marly Eliane; Silva, Vivianne Monteiro; Moi, Gisele Pedroso; Pignati, Wanderley Antonio; Mattos, Ines Echenique; Silva, Ageo Mário Cândido

2016-08-12

Most fetal defects are associated with genetic and environmental causes, among them, exposure of pregnant women to intensive pesticide use. Agribusiness is the economic basis of the state of Mato Grosso, the largest consumer of pesticides of all Brazilian states. The objective of this study was to investigate the association between past parental exposure to pesticides and the occurrence of congenital malformations in children in Mato Grosso, Brazil. This hospital-based case-control study was conducted in Cuiabá, the capital of Mato Grosso, from March to October 2011. Data was collected in all public, private, and health plan referral hospitals that provide care for pregnant women in the state of Mato Grosso and were situated in Cuiabá. Cases were children under 5 years of age with congenital malformations classified in Chapter XVIII of the International Classification of Diseases-10 and controls were children within the same age range, without congenital malformations, treated at the same hospitals. Malformation-related data was obtained from the patients' medical records. Socioeconomic data and information about parental exposure to pesticides were obtained in an interview with the mother using a standardized questionnaire. We conducted multivariate logistic regression to assess the relation between parent report of past pesticide use and congenital malformations. We also assessed effect modification to verify whether low maternal education level modified the association between exposure and our outcome. We observed positive effect modification of the association of paternal past exposure to pesticide and congenital malformation in the offspring by maternal education for mothers with low educational level (OR = 8.40, 95 % CI 2.17-32.52), father's work related to farming (OR = 4.65, 95 % CI 1.03-20.98) and paternal past exposure to pesticides (OR = 4.15, 95 % CI 1.24-13.66). These findings provide further evidence that paternal exposure to

Fetal and neonatal mortality in patients with isolated congenital heart diseases and heart conditions associated with extracardiac abnormalities.

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Marantz, Pablo; Sáenz Tejeira, M Mercedes; Peña, Gabriela; Segovia, Alejandra; Fustiñana, Carlos

2013-10-01

Congenital malformations are a known cause of intrauterine death; of them, congenital heart diseases (CHDs) are accountable for the highest fetal and neonatal mortality rates. They are strongly associated with other extracardiac malformations and an early fetal mortality. Two hundred and twenty fves cases of CHDs are presented. Of them, 155 were isolated CHDs (group A) and 70 were associated with extracardiac malformations, chromosomal disorders, or genetic syndromes (group B). The overall mortality in group B was higher than that observed in group A (p Heart diseases associated with extracardiac abnormalities had a higher mortality rate than isolated congenital heart diseases in the period up to 60 weeks of postmenstrual age (140 days post-term). No differences were observed between both groups of patients in terms of prenatal mortality.

Fetal MRI evaluation of an intracranial mass: in utero evolution of hemorrhage

International Nuclear Information System (INIS)

Emamian, Seyed A.; Bulas, Dorothy I.; Vezina, Gilbert L.; Dubovsky, Elizabeth C.; Cogan, Phillip

2002-01-01

The role of MRI in the evaluation of fetal abnormalities is still under evaluation. We describe a case of an intracranial mass that was initially identified by prenatal ultrasound and was further evaluated by MRI. Ultimately, the findings were most consistent with hematoma secondary to an underlying dural malformation with spontaneous involution. The advantages of fetal MRI in the assessment and management of this abnormality will be discussed. (orig.)

Fetal MRI evaluation of an intracranial mass: in utero evolution of hemorrhage

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Emamian, Seyed A.; Bulas, Dorothy I.; Vezina, Gilbert L.; Dubovsky, Elizabeth C. [Department of Diagnostic Imaging and Radiology, Children' s National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010 (United States); Cogan, Phillip [Department of Neurosurgery, Children' s National Medical Center, George Washington University,Washington, DC (United States)

2002-08-01

The role of MRI in the evaluation of fetal abnormalities is still under evaluation. We describe a case of an intracranial mass that was initially identified by prenatal ultrasound and was further evaluated by MRI. Ultimately, the findings were most consistent with hematoma secondary to an underlying dural malformation with spontaneous involution. The advantages of fetal MRI in the assessment and management of this abnormality will be discussed. (orig.)

Evolution of ventricular outpouching through the fetal and postnatal periods: Unabating dilemma of serial observation or surgical correction

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Niraj Kumar Dipak

2017-07-01

Full Text Available Ventricular outpouching is a rare finding in prenatal sonography and the main differential diagnoses are diverticulum, aneurysm, and pseudoaneurysm in addition to congenital cysts and clefts. The various modes of fetal presentation of congenital ventricular outpouching include an abnormal four-chamber view on fetal two-dimensional echocardiogram, fetal arrhythmia, fetal hydrops, and pericardial effusion. Left ventricular aneurysm (LVA/nonapical diverticula are usually isolated defects. Apical diverticula are always associated with midline thoracoabdominal defects (epigastric pulsating diverticulum or large omphalocele and other structural malformations of the heart. Most patients with LVA/congenital ventricular diverticulum remain clinically asymptomatic but they can potentially give rise to complications such as ventricular tachyarrhythmias, systemic embolism, sudden death, spontaneous rupture, and severe valvular regurgitation. The treatment of asymptomatic LVA and isolated congenital ventricular diverticulum is still undefined. In this review, our aim is to outline a systematic approach to a fetus detected with ventricular outpouching. Starting with prevalence and its types, issues in fetal management, natural course and evolution postbirth, and finally the perpetual dilemma of serial observation or surgical correction is discussed.

Transabdominal amnioinfusion to avoid fetal demise and intestinal damage in fetuses with gastroschisis and severe oligohydramnios.

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Sapin, E; Mahieu, D; Borgnon, J; Douvier, S; Carricaburu, E; Sagot, P

2000-04-01

Despite dramatic improvement in survival rate for neonates with gastroschisis, significant postoperative morbidity and a low mortality rate still occur. Furthermore, even in recent publications, some fetal death has been reported. Does this mean that antenatal diagnosis of gastroschisis is a missed opportunity? In fact, decreased amniotic fluid (AF) volume is observed in some fetuses with gastroschisis. However, oligohydramnios is associated with an increased risk of fetal suffering. When severe oligohydramnios is observed, intrapartum amnioinfusion, to restore AF volume, may help avoid fetal complications. Two fetuses with gastroschisis and severe oligohydramnios were treated antenatally with amnioinfusion of saline solution. In one case, fetal heart beat decelerations were observed at 27 weeks' gestation among with the oligohydroamnios and serial transabdominal amnioinfusions were performed. In the second case, severe oligohydramnios was observed at 31, weeks and an amnioinfusion was performed. The 2 babies were delivered at 31 and 34 weeks, respectively. In both cases, exteriorized bowel was nearly normal at birth, and primary closure could be performed. Outcome was favorable, and they were discharged home on day 43 and day 54, respectively. Because fetuses with gastroschisis and oligohydramnios are part of a particular high-risk group, serial ultrasound examination and computerized fetal heart beat monitoring are necessary during the third trimester. In selected cases of gastroschisis associated with severe oligohydramnios, serial amnioinfusion may be required.

Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.

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Abdel-Salam, Ghada M H; Abdel-Hamid, Mohamed S; Saleem, Sahar N; Ahmed, Mahmoud K H; Issa, Mahmoud; Effat, Laila K; Kayed, Hisham F; Zaki, Maha S; Gaber, Khaled R

2012-08-01

We describe two sibs with a lethal form of profound congenital microcephaly, intrauterine and postnatal growth retardation, subtle skeletal changes, and poorly developed brain. The sibs had striking absent cranial vault with sloping of the forehead, large beaked nose, relatively large ears, and mandibular micro-retrognathia. Brain magnetic resonance imaging (MRI) revealed extremely simplified gyral pattern, large interhemispheric cyst and agenesis of corpus callosum, abnormally shaped hippocampus, and proportionately affected cerebellum and brainstem. In addition, fundus examination showed foveal hypoplasia with optic nerve atrophy. No abnormalities of the internal organs were found. This profound form of microcephaly was identified at 17 weeks gestation by ultrasound and fetal brain MRI helped in characterizing the developmental brain malformations in the second sib. Molecular analysis excluded mutations in potentially related genes such as RNU4ATAC, SLC25A19, and ASPM. These clinical and imaging findings are unlike that of any recognized severe forms of microcephaly which is believed to be a new microcephalic primordial dwarfism (MPD) with developmental brain malformations with most probably autosomal recessive inheritance based on consanguinity and similarly affected male and female sibs. Copyright © 2012 Wiley Periodicals, Inc.

Metabolomics Application in Maternal-Fetal Medicine

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Vassilios Fanos

2013-01-01

Full Text Available Metabolomics in maternal-fetal medicine is still an “embryonic” science. However, there is already an increasing interest in metabolome of normal and complicated pregnancies, and neonatal outcomes. Tissues used for metabolomics interrogations of pregnant women, fetuses and newborns are amniotic fluid, blood, plasma, cord blood, placenta, urine, and vaginal secretions. All published papers highlight the strong correlation between biomarkers found in these tissues and fetal malformations, preterm delivery, premature rupture of membranes, gestational diabetes mellitus, preeclampsia, neonatal asphyxia, and hypoxic-ischemic encephalopathy. The aim of this review is to summarize and comment on original data available in relevant published works in order to emphasize the clinical potential of metabolomics in obstetrics in the immediate future.

[The woman at the termination of pregnancy for fetal anomalies: clinical case].

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Baena-Antequera, Francisca; Jurado-García, Estefanía

2015-01-01

Within the assistance and support to coping with perinatal death, it must be considered that there is a group of women whose process has some features that give specific connotations. We talked about when the perinatal loss occurs due to a maternal decision to the presence of a fetal malformation. These cases today, thanks to advances in the techniques of control fetal development, are not uncommon. In their assistance, healthcare professionals should be aware that they often present a great sense of guilt and ambivalence between well-made decision and the hardness of having to come to it. A case of a pregnant woman undergoing a fetal fetolisis and care plan developed in her assistance for the induction of labor, delivery and immediate postpartum period is presented. This plan includes the problems of collaboration and the independent problems that are formulated according to the NANDA, NOC and NIC taxonomies. The implication for practice after studying this case leads to the duty to equally address the coping with a stillbirth, whether it was spontaneous or had it been determined by fetal malformation completion, giving parents the ability to view and contact with their child. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

Fetal MRI and ultrasound of congenital CNS anomalies

International Nuclear Information System (INIS)

Pogledic, I.; Reith, W.; Meyberg-Solomayer, G.

2013-01-01

In the last decade the newest technologies, fetal magnetic resonance imaging (MRI) and 3D ultrasound, have given an insight into the minute structures of the fetal brain. However, without knowledge of the basic developmental processes the imaging is futile. Knowledge of fetal neuroanatomy corresponding to the gestational week is necessary in order to recognize pathological structures. Furthermore, a modern neuroradiologist should be acquainted with the three steps in the formation of the cerebral cortex: proliferation, migration and differentiation of neurons in order to be in a position to suspect that there is a pathology and start recognizing and discovering the abnormalities. The fetal MRI has become an important complementary method to ultrasound especially in cortical malformations when confirmation of the prenatal diagnosis is needed and additional pathologies need to be diagnosed. In this manner these two methods help in parental counseling and treatment planning. (orig.) [de

[Geographic distribution of perinatal mortality due to congenital malformations in Colombia, 1999-2008: An analysis of vital statistics data].

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Misnaza, Sandra Patricia; Roncancio, Claudia Patricia; Peña, Isabel Cristina; Prieto, Franklin Edwin

2016-09-01

During 2012, 13% of the deaths worldwide in children under the age of 28 days were due to congenital malformations. In Colombia, congenital malformations are the second leading cause of infant mortality. Objective: To determine the geographical distribution of extended perinatal mortality due to congenital malformations in Colombia between 1999 and 2008. Materials and methods: We conducted a cross-sectional study. We revised all death certificates issued between 1999 and 2008. We defined perinatal mortality as fetal or non-fetal deaths within the first 28 days after delivery in children with body weight ≥500 grams, and congenital malformations according to ICD-10 diagnostic codes Q000 - Q999. The annual birth projection was used as the denominator. We defined high mortality areas due to congenital malformations as those in the 90th percentile. Results: We recorded 22,361 perinatal deaths due to congenital malformations. The following provinces exceeded the 90th perinatal mortality percentile: Antioquia, Caldas, Risaralda, Huila, Quindío, Bogotá, Valle del Cauca and Guainía. Among the municipalities, the highest perinatal mortality rates were found in Giraldo, Ciudad Bolívar, Riosucio, Liborina, Supía, Alejandría, Sopetrán, San Jerónimo, Santa Fe de Antioquia and Marmato (205.81 and 74.18 per 10.000 live births).The perinatal mortality rate due to malformations of the circulatory system was 28.1 per 10.000 live births, whereas the rates for central nervous system defects and chromosomal abnormalities were 13.7 and 7.0, respectively. The Andean region showed high perinatal mortality rates due to congenital malformations. There is an urgent need to identify possible risk factors of perinatal mortality and implement successive prevention programs in that particular region.

Neonate With Severe Heart Failure Related to Vein of Galen Malformation

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Meng-Yu Chen

2010-08-01

Full Text Available We report a full-term female neonate who presented with respiratory distress and severe heart failure soon after birth. Heart failure secondary to perinatal infection was initially suspected. Subsequent echocardiography revealed aortic runoff, which led to consideration of an intracranial vascular abnormality. Ultrasound and magnetic resonance imaging of the brain confirmed a diagnosis of vein of Galen aneurismal malformation (VGAM. Endovascular coil embolization of the vascular anomaly was performed, resulting in improvement of heart failure. VGAM should be considered in the differential diagnosis of neonatal congestive heart failure with a structurally normal heart. Urgent endovascular embolization and aggressive medical treatment of heart failure improve prognosis in neonatal VGAM.

Diagnosis, treatment and long-term outcome in fetal hydrocephalus

International Nuclear Information System (INIS)

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

2011-01-01

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

Abortion, premature delivery, stillborn, and malformations

International Nuclear Information System (INIS)

Sato, Yukio

1992-01-01

Since A-bomb disaster in Hiroshima and Nagasaki, genetic effects of A-bomb radiation have been investigated in the offspring of A-bomb survivors. This paper outlines the results of the previous studies in the context of the historical backgrounds. An earlier survey using a cohort of 71,280 children of Hiroshima and Nagasaki A-bomb survivors and a suitable control population of non-exposed 55,870 persons have dealt with the stillborn, neonate death, 9-month-old infant death, malformations at birth and 9 months after birth, and sex ratio in F 1 offspring; it was found that there was no significant difference in these items between the exposed and non-exposed groups. The other survey using fetal and neonatal autopsy cases has revealed that the incidence of malformations was significantly higher in children born to A-bomb survivors than those of the control population (18.5% vs 11.0%); however, there was no evidence of genetic abnormalities specific to the group of A-bomb survivors. Until now, no definitive conclusions of the sex ratio at birth have been drawn. Regarding height in F 1 offspring, no significant difference existed between the exposed and non-exposed groups. Nor was there significant difference in malformations in F 1 and F 2 offspring between the group of A-bomb survivors and the suitable control group. (N.K.)

Maternal and fetal alternative complement pathway activation in early severe preeclampsia.

Science.gov (United States)

Hoffman, M Camille; Rumer, Kristen K; Kramer, Anita; Lynch, Anne M; Winn, Virginia D

2014-01-01

We sought to determine whether alternative complement activation fragment Bb (Bb) levels are elevated in the maternal, fetal, and placental blood in cases of severe preeclampsia (PE) compared with normotensive controls. This was a cross-sectional study of women admitted at ≥24 weeks gestation with or without severe PE. Maternal plasma was collected at the time of enrollment. Umbilical venous cord and intervillous space blood were collected at delivery. Plasma Bb levels were assessed using ELISA. Bb levels were compared between cases and controls. Median Bb levels were higher in the maternal plasma of severe PE subjects (n = 24) than in controls (n = 20), 1.45 ± 1.03 versus 0.65 ± 0.23 μg/mL, P < 0.001. In umbilical venous plasma, Bb levels were higher in severe PE subjects (n = 15) compared with controls (n = 15), 2.48 ± 1.40 versus 1.01 ± 0.57 μg/mL, P = 0.01. Activation fragment Bb is increased in the maternal and umbilical venous blood of cases of severe PE when compared with normotensive controls. These data provide support for alternative complement pathway involvement in the pathogenesis of severe PE and demonstrate that alternative complement activation occurs not only in the maternal but also in the fetal compartment. © 2013 John Wiley & Sons Ltd.

[Study of the radioprotective effects of TMG on teratogenic malformations in irradiated mice].

Science.gov (United States)

Gu, Y; Hasegawa, T; Kim, H; Suzuki, I; Mori, T; Yamamoto, Y

2000-12-01

ICR mice fetuses in the organogenesis stage were used to clarify experimentally the mechanism of the protective effect of vitamin E derivant (TMG: 2-(alpha-D-Glucopyranosyl) methyl-2, -5, -7, -8-Teramethylchorman-6-working woman) on the effects of radiation. The authors paid careful attention to radiation, and the radioprotective effects of TMG on the induction of malformations was examined. Radiation is an important consideration because of its widespread use in the areas of medicine, nuclear energy, and industry. Malformations induced by radiation at the organogenesis stage, skeletal malformations, and the effects at the cellular level of embryos were examined in this research. Further, the mechanism of the protection effect of TMG against radiation-induced malformations was analyzed and observed experimentally. Thus, this study was done to provide fundamental data on the radioprotective agent TMG. It was clear that TMG exerted radioprotective effects against embryonic death and the rate of teratogenesis when administered before exposure. Such effects were also exerted against skeletal malformations and fetal body weight. In summary, radioprotective effects were observed at the whole-body level as well as at the cellular level.

Study of the radioprotective effects of TMG on teratogenic malformations in irradiated mice

International Nuclear Information System (INIS)

Gu, Yeunhwa; Hasegawa, Takeo; Suzuki, Ikukatsu; Mori, Takehiko; Yamamoto, Youichi; Kim, Hwakon

2000-01-01

ICR mice fetuses in the organogenesis stage were used to clarify experimentally the mechanism of the protective effect of vitamin E derivant (TMG: 2- (α-D-Glucopyranosyl) methyl-2, -5, -7, -8-Teramethylchorman-6-working woman) on the effects of radiation. The authors paid careful attention to radiation, and the radioprotective effects of TMG on the induction of malformations was examined. Radiation is an important consideration because of its widespread use in the areas of medicine, nuclear energy, and industry. Malformations induced by radiation at the organogenesis stage, skeletal malformations, and the effects at the cellular level of embryos were examined in this research. Further, the mechanism of the protection effect of TMG against radiation-induced malformations was analyzed and observed experimentally. Thus, this study was done to provide fundamental data on the radioprotective agent TMG. It was clear that TMG exerted radioprotective effects against embryonic death and the rate of teratogenesis when administered before exposure. Such effects were also exerted against skeletal malformations and fetal body weight. In summary, radioprotective effects were observed at the whole-body level as well as at the cellular level. (author)

Headache in children with Chiari I malformation.

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Toldo, Irene; Tangari, Marta; Mardari, Rodica; Perissinotto, Egle; Sartori, Stefano; Gatta, Michela; Calderone, Milena; Battistella, Pier Antonio

2014-05-01

Headache is the most common symptom of Chiari 1 malformation, a condition characterized by the herniation of cerebellar tonsils through the foramen magnum. However, the headache pattern of cases with Chiari 1 malformations is not well defined in the literature, especially in children. The aim of this retrospective chart review was to evaluate the frequency and the characteristics of headache in children with Chiari 1 malformation at initial evaluation and during follow up. Forty-five cases with tonsillar ectopia were selected among 9947 cases under 18 years of age who underwent neuroimaging between 2002 and 2010. A semistructured clinical interview (mean follow-up: 5.2 years) was conducted. Headache was classified according to the second edition of the International Classification of Headache Disorders. Possible associations between clinical picture, in particular headache pattern, but also other signs and symptoms attributable to Chiari 1 malformation, and the extent of tonsillar ectopia were found for 3 different groups: those with borderline (headache, and 9/33 (27%) of those patients (5 with mild and 4 with severe tonsillar ectopia) reported headache attributed to Chiari 1 malformation. In our studied pediatric population, the most common symptom for cases diagnosed with Chiari 1 malformation was headache, and headache attributed to Chiari 1 malformation was the most common headache pattern in patients with Chiari 1 malformation. The presence of headache attributed to Chiari 1 malformation along with 3 other signs or symptoms of Chiari 1 malformation were highly predictive of severe tonsillar ectopia. © 2014 American Headache Society.

Fetal plasma erythropoietin concentration in severe growth retardation.

Science.gov (United States)

Snijders, R J; Abbas, A; Melby, O; Ireland, R M; Nicolaides, K H

1993-02-01

The aim of this study was to determine whether hypoxemia induces an increase in plasma erythropoietin concentration in human fetal life and, if so, whether this response stimulates fetal erythropoiesis. The plasma erythropoietin concentration in blood samples from 33 small-for-gestational-age fetuses at 26 to 38 weeks' gestation was measured. Measurements were compared with the reference range for gestation, and associations with PO2, pH, and erythroblast and erythrocyte counts were examined. The mean plasma erythropoietin concentration in the small-for-gestational-age fetuses was significantly increased, and the degree of increase was significantly associated both with fetal acidemia and, more strongly, with fetal erythroblastosis. Erythropoietin production in response to tissue hypoxia occurs from at least 26 weeks' gestation with measurable physiologic effects on erythropoiesis. Furthermore, more accurate assessment of tissue oxygenation may be obtained by measuring the erythroblast count rather than the blood pH.

Fetal eyeball volume: relationship to gestational age and biparietal diameter.

Science.gov (United States)

Odeh, Marwan; Feldman, Yulia; Degani, Shimon; Grinin, Vitali; Ophir, Ella; Bornstein, Jacob

2009-08-01

To measure and determine normal values of the fetal eyeball volume between 14 and 40 weeks of gestation. The volume of the fetal eyeball was measured with three-dimensional ultrasound between 14 and 40 weeks of gestation using the VOCAL software.Only singleton pregnancies without fetal growth restriction, diabetes mellitus, hypertension or major fetal malformation were included. Over all, 203 women were studied. In 125 both eyeballs were measured while in 78 only one eyeball was measured. The volume of the eyeball correlated strongly with gestational age (right: R = 0.946, P eyeball volume and the BPD were: square of right eyeball = -0.180 + 0.187 BPD, square of left eyeball = -0.182 + 0.187 BPD. The volume of the eyeball has strong positive correlations with gestational age and BPD. Our data may be helpful in fetuses suspected of having eye anomalies.

Anatomy of the normal fetal heart: The basis for understanding fetal echocardiography

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Beatriz Picazo-Angelin

2018-01-01

Full Text Available The rapid changes that have taken place in recent years in relation to techniques used to image the fetal heart have emphasized the need to have a detailed knowledge ofnormal cardiac anatomy. Without such knowledge, it is difficult, if not impossible, to recognize the multiple facets of congenital cardiac disease. From the inception of fetal echocardiographic screening, the importance of basic knowledge of cardiac anatomy has been well recognized. The current machines used for imaging, however, now make it possible potentially to recognize features not appreciated at the start of the specialty. So as to match the advances made in imaging, we have now revisited our understanding of normal cardiac anatomy in the mid-gestational fetus. This was made possible by our dissection of 10 fetal hearts, followed by production of addition histological sections that mimic the standard ultrasound views. The fetuses ranged in gestational age from between 20 and 28 weeks. We then correlated the obtained anatomic images with the corresponding ultrasonic images used in the standard fetal screening scan. We also interrogated the anatomic sections so as to clarify ongoing controversies regarding detailed features of the normal cardiac anatomy. We have been able to show that the views now obtained using current technology reveal many details of anatomy not always appreciated at earlier times. Knowledge of these features should now permit diagnosis of most congenital cardiac malformations. The anatomic-echocardiographic correlations additionally provide a valuable resource for both the understanding and teaching of fetal echocardiography.

Screening for congenital malformations by ultrasonography in the general population of pregnant women: factors affecting the efficacy

DEFF Research Database (Denmark)

Tabor, Ann; Zdravkovic, Milica Branislava; Perslev, Annette

2003-01-01

. Fetuses with a prenatally undetected malformation were more often examined by more than one sonographer than fetuses without congenital malformations. Workload or monotony did not seem to affect the efficacy of screening. There was a trend towards a lower detection rate at midday and when most......OBJECTIVES: To assess whether the efficacy of screening for fetal malformations is affected by patient-, staff-, team- or work environment-related factors. METHODS: A prospective cohort study was carried out at a Danish university hospital with 4000 deliveries per year. In total, 7963 fetuses were...... malformations were detected in 100 fetuses or infants, corresponding to an incidence of 1.3%. The prenatal DR was 60%. High maternal body mass index (BMI) was associated with a lower DR, while the presence of twins, the gestational age at time of screening and the sonographer's level of experience were not...

Fetal Microsatellite in the Heme Oxygenase 1 Promoter Is Associated With Severe and Early-Onset Preeclampsia.

Science.gov (United States)

Kaartokallio, Tea; Utge, Siddheshwar; Klemetti, Miira M; Paananen, Jussi; Pulkki, Kari; Romppanen, Jarkko; Tikkanen, Ilkka; Heinonen, Seppo; Kajantie, Eero; Kere, Juha; Kivinen, Katja; Pouta, Anneli; Lakkisto, Päivi; Laivuori, Hannele

2018-01-01

Preeclampsia is a vascular pregnancy disorder that often involves impaired placental development. HO-1 (heme oxygenase 1, encoded by HMOX1 ) is a stress response enzyme crucial for endothelial and placental function. Long version of the guanine-thymine (GT n ) microsatellite in the HMOX1 promoter decreases HO-1 expression, and the long maternal repeat is associated with late-onset preeclampsia. Our aim was to study whether the length of fetal repeat is associated with mother's preeclampsia, whether the length of fetal and maternal repeats affect HO-1 levels in placenta and maternal serum, and whether HO-1 levels are altered in preeclampsia. We genotyped the repeat in the cord blood of 609 preeclamptic and 745 nonpreeclamptic neonates. HO-1 levels were measured in 36 placental samples, and in the first (222 cases/243 controls) and third (176 cases/53 controls) pregnancy trimester serum samples using enzyme-linked immunosorbent assay. The long fetal GT n repeat was associated with preeclampsia and its severe and early-onset subtypes. Interaction analysis suggested the maternal and fetal effects to be independent. Placental or serum HO-1 levels were not altered in preeclamptics, possibly reflecting heterogeneity of preeclampsia. Carriers of the long fetal and maternal repeats had lower placental and serum HO-1 levels, respectively, providing functional evidence for the association. We conclude that the long fetal GT n repeat may increase mother's risk for especially severe and early-onset preeclampsia. The fetal and maternal risk alleles likely predispose to different disease subtypes. © 2017 American Heart Association, Inc.

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

Science.gov (United States)

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

2015-06-01

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

Congenital cystic lung malformations; Konnatale zystische Lungenfehlbildungen

Energy Technology Data Exchange (ETDEWEB)

Stoever, B.; Scheer, I.; Bassir, C. [Klinik fuer Strahlenheilkunde, Berlin (Germany). Abt. Paediatrische Radiologie, Charite; Mau, H. [Campus Virchow-Klinikum, Klinik fuer Kinderchirurgie, Berlin (Germany); Chaoui, R. [Campus Mitte, Klinik fuer Geburtsmedizin, Berlin (Germany); Henrich, W. [Campus Virchow-Klinikum, Klinik fuer Geburtsmedizin, Berlin (Germany); Schwabe, M. [Campus Mitte, Inst. fuer Pathologie, Berlin (Germany); Wauer, R. [Campus Mitte, Klinik fuer Neonatologie, Berlin (Germany)

2006-04-15

Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

Maternal and fetal recovery after severe respiratory failure due to influenza: a case report

Directory of Open Access Journals (Sweden)

Madsen Kristine

2013-02-01

Full Text Available Abstract Background During pregnancy women are at increased risk of severe complications to influenza infection, including death of mother or fetus, especially if chronic comorbid medical conditions such as diabetes mellitus are present. Case presentation A 36 years old Caucasian pregnant woman with type 1 diabetes underwent mechanical ventilation in gestation week 27 for severe respiratory failure due to influenza and pneumonia. For three weeks during and following her most severe illness, fetal growth could not be detected and the umbilical flows and amniotic fluid volumes were affected too. The possibility of preterm delivery and extracorporeal membrane oxygenation (ECMO treatment were considered, however the patient and her fetus recovered gradually on conservative treatment. Under close surveillance the pregnancy continued until term, with delivery of an infant with appropriate weight for gestational age. Conclusion Preterm delivery and decreased birth weight were reported for women with antepartum pneumonia. Mechanical ventilation and ECMO treatment for severe respiratory failure in pregnancy are life threatening conditions and have been associated with preterm delivery. It remains uncertain if delivery improves the respiratory status of a critically ill woman, and the fetal condition is likely to improve, if the maternal condition is stabilized. Severe respiratory insufficiency requiring mechanical ventilation in a diabetic pregnant woman with influenza was successfully treated conservatively. Despite clear signs of impaired fetal condition in the acute phase, watchful waiting resulted in delivery of a normal weight infant at term.

Prenatal stress challenge impairs fetal lung development and asthma severity sex-specifically in mice.

Science.gov (United States)

Zazara, Dimitra E; Perani, Clara V; Solano, María E; Arck, Petra C

2018-02-01

Allergic asthma is an increasing health problem worldwide. Interestingly, prenatal challenges such as stress have been associated with an increased risk for asthma during childhood. The underlying pathogenesis of how prenatal stress increases the risk for asthma still remains unclear. Potential targets could be that the fetal immune ontogeny or fetal lung development are compromised by prenatal challenges. Here, we aimed to identify whether prenatal stress challenge affects fetal lung development in mice. C57BL/6 pregnant mice were challenged with sound stress and fetal lung development was assessed histologically. Whilst prenatal stress challenge did not profoundly affect lung development in male fetuses, it resulted in less extensive terminal sacs, surrounded by thicker mesenchymal tissue in female fetuses. Thus, prenatal stress disrupted fetal lung development sex-specifically. Interestingly, upon prenatal stress challenge, the airway hyperresponsiveness and eosinophilic inflammation- two hallmarks of asthma - were significantly increased in adult female offspring, whilst regulatory CD4+ T cells were reduced. These findings strongly underpin the sex-specific association between s challenged fetal development and a sex-specific altered severity of asthma in adult offspring. Our model now allows to identify maternal markers through which the risk for asthma and possible other diseases is vertically transferred before birth in response to challenges. Such identification then opens avenues for primary disease prevention. Copyright © 2017 Elsevier B.V. All rights reserved.

Investigation of normal organ development with fetal MRI

International Nuclear Information System (INIS)

Prayer, Daniela; Brugger, Peter C.

2007-01-01

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

Investigation of normal organ development with fetal MRI

Energy Technology Data Exchange (ETDEWEB)

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

2007-10-15

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

Genetics Home Reference: capillary malformation-arteriovenous malformation syndrome

Science.gov (United States)

... Institute: How the Heart Works National Institute of Neurological Disorders and Stroke: Arteriovenous Malformation Educational Resources (7 links) Boston Children's Hospital: Arteriovenous Malformation Boston Children's Hospital: Capillary Malformation ...

MRI tight posterior fossa sign for prenatal diagnosis of Chiari type II malformation

Energy Technology Data Exchange (ETDEWEB)

Ando, Kumiko; Ishikura, Reiichi; Ogawa, Masayo; Takada, Yoshihiro; Yamamoto, Satoshi; Fujiwara, Masayuki; Hirota, Shozo [Hyogo College of Medicine, Department of Radiology, Nishinomiya, Hyogo (Japan); Shakudo, Miyuki [Osaka City General Hospital, Department of Radiology, Osaka (Japan); Tanaka, Hiroyuki [Hyogo College of Medicine, Department of Gynecology, Nishinomiya (Japan); Minagawa, Kyoko [Hyogo College of Medicine, Department of Pediatrics, Nishinomiya (Japan)

2007-12-15

Chiari type II malformation (CMII) is one of three hindbrain malformations that display hydrocephalus. We have observed that cerebrospinal fluid (CSF) signal in the posterior fossa, which is always apparent on normal fetal MR images, is not visible in a fetus with CMII. We use the term 'tight posterior fossa' for this MR imaging finding, and evaluate the diagnostic value of this finding on fetal MR images. Included in the study were 21 fetuses which underwent brain MR imaging at 1.5 T using two-dimensional balanced turbo-field-echo (2-D balanced-TFE) in the axial and sagittal planes. Postnatal diagnoses were CMII (n=5), CNS abnormalities other than CMII (n=8), and no abnormality (n=8). A tight posterior fossa was defined as an absent or slit-like water signal space around the hindbrain in the posterior fossa on both sagittal and axial MR images. All CMII fetuses displayed a tight posterior fossa on MR images. Hydrocephalus was visualized in all CMII fetuses and myelomeningocele in four fetuses, but hindbrain herniation was visualized only in two of five fetuses. The CSF signal surrounding the hindbrain was clearly visible in all the other 16 fetuses, including five with hydrocephalus not associated with CMII, although it was slightly narrower in a fetus with a cloverleaf skull than in the normal fetuses. Tight posterior fossa in the presence of hydrocephalus is a useful and characteristic finding of CMII on fetal MRI. (orig.)

MRI tight posterior fossa sign for prenatal diagnosis of Chiari type II malformation

International Nuclear Information System (INIS)

Ando, Kumiko; Ishikura, Reiichi; Ogawa, Masayo; Takada, Yoshihiro; Yamamoto, Satoshi; Fujiwara, Masayuki; Hirota, Shozo; Shakudo, Miyuki; Tanaka, Hiroyuki; Minagawa, Kyoko

2007-01-01

Chiari type II malformation (CMII) is one of three hindbrain malformations that display hydrocephalus. We have observed that cerebrospinal fluid (CSF) signal in the posterior fossa, which is always apparent on normal fetal MR images, is not visible in a fetus with CMII. We use the term 'tight posterior fossa' for this MR imaging finding, and evaluate the diagnostic value of this finding on fetal MR images. Included in the study were 21 fetuses which underwent brain MR imaging at 1.5 T using two-dimensional balanced turbo-field-echo (2-D balanced-TFE) in the axial and sagittal planes. Postnatal diagnoses were CMII (n=5), CNS abnormalities other than CMII (n=8), and no abnormality (n=8). A tight posterior fossa was defined as an absent or slit-like water signal space around the hindbrain in the posterior fossa on both sagittal and axial MR images. All CMII fetuses displayed a tight posterior fossa on MR images. Hydrocephalus was visualized in all CMII fetuses and myelomeningocele in four fetuses, but hindbrain herniation was visualized only in two of five fetuses. The CSF signal surrounding the hindbrain was clearly visible in all the other 16 fetuses, including five with hydrocephalus not associated with CMII, although it was slightly narrower in a fetus with a cloverleaf skull than in the normal fetuses. Tight posterior fossa in the presence of hydrocephalus is a useful and characteristic finding of CMII on fetal MRI. (orig.)

Congenital heart defects and extracardiac malformations.

Science.gov (United States)

Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

2013-06-01

To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

Imaging of fetal chest masses

Energy Technology Data Exchange (ETDEWEB)

Barth, Richard A. [Lucile Packard Children' s Hospital, Stanford University School of Medicine, Department of Radiology, Stanford, CA (United States)

2012-01-15

Prenatal imaging with high-resolution US and rapid acquisition MRI plays a key role in the accurate diagnosis of congenital chest masses. Imaging has enhanced our understanding of the natural history of fetal lung masses, allowing for accurate prediction of outcome, parental counseling, and planning of pregnancy and newborn management. This paper will focus on congenital bronchopulmonary malformations, which account for the vast majority of primary lung masses in the fetus. In addition, anomalies that mimic masses and less common causes of lung masses will be discussed. (orig.)

Human fetal malformations associated with the use of an angiotensin II receptor antagonist: Case Report

Directory of Open Access Journals (Sweden)

Henri Augusto Korkes

2014-09-01

Full Text Available Introduction: The potential risks related to drug exposure during pregnancy represent a vast chapter in modern obstetrics and data regarding the safety of antihypertensive drugs during pregnancy are relatively scarce. Case report: A 37-year-old patient discovered her fifth pregnancy at our hospital after 26 weeks and 4 days of gestation. She reported a history of hypertension and was currently being treated with Losartan. Hospitalization was recommended for the patient and further evaluation of fetal vitality was performed. On the fourth day an ultrasound was performed, resulting in a severe oligohydramnios, fetal centralization and abnormal ductus venosus. After 36 hours, the newborn died. Pathologic evaluation: At autopsy, the skullcap had large fontanels and deficient ossification. The kidneys were slightly enlarged. A microscopic examination detected underdevelopment of the tubules and the presence of some dilated lumens. Immunohistochemical detection of epithelial membrane antigen was positive. Immunoreactivity of CD 15 was also assayed to characterize the proximal tubules, and lumen collapse was observed in some regions. Discussion: Angiotensin-converting enzyme inhibitors (ACEIs and angiotensin receptor antagonists (ARAs are among the most widely prescribed drugs for hypertension. They are often used by hypertensive women who are considering become pregnant. While their fetal toxicity in the second or third trimesters has been documented, their teratogenic effect during the first trimester has only recently been demonstrated. Conclusion: Constant awareness by physicians and patients should be encouraged, particularly in regard to the prescription of antihypertensive drugs in women of childbearing age who are or intend to become pregnant.

Congenital malformations caused by Stryphnodendron fissuratum (Leg. Mimosoideae) in guinea pigs (Cavia porcellus).

Science.gov (United States)

Macedo, Josenaldo S; Rocha, Brena P; Colodel, Edson M; Freitas, Sílvio H; Dória, Renata G S; Riet-Correa, Franklin; Evêncio-Neto, Joaquim; Mendonça, Fábio S

2015-11-01

The aim of this study was to evaluate the toxicity of Stryphnodendron fissuratum pods in guinea pigs (Cavia porcellus) and test the hypothesis that this plant has teratogenic effects. Thus, sixteen guinea pigs were randomly divided into four groups of four animals each. Groups 10, 20 and 40 consisted of guinea pigs that received commercial food that contained crushed pods of S. fissuratum at concentrations of 10, 20 and 40 g/kg, respectively, during the period of organogenesis. Control group consisted of guinea pigs under the same management conditions that did not receive crushed pods of S. fissuratum in their food. In all experimental groups, the main clinical signs of poisoning consisted of anorexia, prostration, absence of vocalizations, alopecia, diarrhea, and abortions within the adult guinea pigs. Those that did not abort gave birth to weak, malnourished pups, some of which had fetal malformations. The main teratogenic changes consisted of eventration, arthrogryposis, amelia of the forelimbs, anophthalmia, microphthalmia, anotia and agnathia. The reductions in the number of offspring and the malformations observed in the experimental groups suggest that S. fissuratum affects fetal development and is teratogenic. Copyright © 2015 Elsevier Ltd. All rights reserved.

Fetal MRI demonstrates glioependymal cyst in a case of sonographic unilateral ventriculomegaly

International Nuclear Information System (INIS)

Muehler, Matthias R.; Hartmann, Christian; Werner, Walter; Meyer, Oliver; Bollmann, Rainer; Klingebiel, Randolf

2007-01-01

We report a fetus of 28 weeks' gestation in which ultrasonography demonstrated unilateral ventriculomegaly and microcephaly. Fetal MRI demonstrated a simple, left paramedian occipital cyst with rarefaction of the corpus callosum and thinning of the adjacent cortical mantle. Ischaemia was suggested as the underlying pathogenesis, but autopsy after termination of pregnancy revealed a glioependymal cyst. This case highlights consideration of the rare diagnosis of glioependymal cyst when a cystic lesion associated with cerebral malformations, particularly dysgenesis of the corpus callosum, is demonstrated and fetal MRI suggests an ischaemic origin. (orig.)

Congenital cystic adenomatoid malformations (CCAM) - prenatal MRI diagnosis: a case report

International Nuclear Information System (INIS)

Gagov, E.; Iieva, E.; Gvanska, G.

2012-01-01

Full text: Congenital Cystic Adenomatoid Malformation/CCAM (recently termed Congenital Pulmonary Airway Malformation/CPAM) is a rare lung lesion that is believed to result from a cessation of bronchiolar maturation with overgrowth of mesenchymal elements. The differential diagnosis of a mass in the fetal thorax includes CCAM/CPAM, congenital diaphragmatic hernia, and pulmonary sequestration. We present a case of CCAM/CPAM detected on prenatal ultrasound examination with prenatal magnetic resonance imaging (MRI) correlation. A multicystic lesion in the right hemithorax of the fetus was identified on ultrasound at 26th weeks of gestation which was slightly increasing in size on follow-up examinations. MRI was performed for further evaluation and selecting the appropriate management. On MRI the lesion was confined to the right middle lobe, consisting of a single large 3 cm cyst surrounded by multiple smaller cysts and compressed normal parenchyma of the upper and lower lobes of the right lung (type I, Stocker and al. classification). No mediastinal shift or other abnormalities to the contralateral lung were detected. No complications, such as hydrothorax or polyhydramnios were identified. Based on the MR findings postnatal surgical removal of the lung lesion was planned. Continuous weekly ultrasound follow-up examination was recommended. Improvements in magnetic resonance imaging (MRI) now permit diagnostic images of the fetus to be obtained. Ultrasound (US) remains vital in all aspects of fetal imaging but MR serves as a useful second line imaging test. MR imaging can provide excellent tissue contrast with more accurate analysis of the fetal anatomy and superior differentiation between the abnormalities and adjacent structures, thereby allowing early planning of pre- and postnatal management

Proanthocyanidins Prevent High Glucose-Induced Eye Malformation by Restoring Pax6 Expression in Chick Embryo

Directory of Open Access Journals (Sweden)

Rui-Rong Tan

2015-08-01

Full Text Available Gestational diabetes mellitus (GDM is one of the leading causes of offspring malformations, in which eye malformation is an important disease. It has raised demand for therapy to improve fetal outcomes. In this study, we used chick embryo to establish a GDM model to study the protective effects of proanthocyanidins on eye development. Chick embryos were exposed to high glucose (0.2 mmol/egg on embryo development day (EDD 1. Proanthocyanidins (1 and 10 nmol/egg were injected into the air sac on EDD 0. Results showed that both dosages of proanthocyanidins could prevent the eye malformation and rescue the high glucose-induced oxidative stress significantly, which the similar effects were showed in edaravone. However, proanthocyanidins could not decrease the glucose concentration of embryo eye. Moreover, the key genes regulating eye development, Pax6, was down-regulated by high glucose. Proanthocyanidins could restore the suppressed expression of Pax6. These results indicated proanthocyanidins might be a promising natural agent to prevent high glucose-induced eye malformation by restoring Pax6 expression.

Linkage between the Danish National Health Service Prescription Database, the Danish Fetal Medicine Database, and other Danish registries as a tool for the study of drug safety in pregnancy

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Pedersen LH

2016-05-01

Full Text Available Lars H Pedersen,1,2 Olav B Petersen,1,2 Mette Nørgaard,3 Charlotte Ekelund,4 Lars Pedersen,3 Ann Tabor,4 Henrik T Sørensen3 1Department of Clinical Medicine, Aarhus University, 2Department of Obstetrics and Gynecology, 3Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus, 4Department of Fetal Medicine, Rigshospitalet, Copenhagen, Denmark Abstract: A linked population-based database is being created in Denmark for research on drug safety during pregnancy. It combines information from the Danish National Health Service Prescription Database (with information on all prescriptions reimbursed in Denmark since 2004, the Danish Fetal Medicine Database, the Danish National Registry of Patients, and the Medical Birth Registry. The new linked database will provide validated information on malformations diagnosed both prenatally and postnatally. The cohort from 2008 to 2014 will comprise 589,000 pregnancies with information on 424,000 pregnancies resulting in live-born children, ~420,000 pregnancies undergoing prenatal ultrasound scans, 65,000 miscarriages, and 92,000 terminations. It will be updated yearly with information on ~80,000 pregnancies. The cohort will enable identification of drug exposures associated with severe malformations, not only based on malformations diagnosed after birth but also including those having led to termination of pregnancy or miscarriage. Such combined data will provide a unique source of information for research on the safety of medications used during pregnancy. Keywords: malformations, teratology, therapeutic drug monitoring, epidemiological methods, registries

MR imaging evaluation of congenital malformation of the spine

International Nuclear Information System (INIS)

Byrd, S.E.; Radkowski, M.A.; McLone, D.G.; Storrs, B.B.

1988-01-01

One hundred fifty children with congenital malformations of the spine were studied with MR imaging, US, and water-soluble myelography with CT. The malformations encountered included myelomeningoceles and Chiari II malformations, diastematomyelia, hydromyelia, arachnoid cyst, dermal sinus and dermoid, spinal lipomas and teratomas, tight filum terminale, anterior sacral meningoceles, lipomyelomeningoceles, myelocystocele, and severe scoliosis. MR imaging was the most effective modality in delineating these abnormalities. At times, real-time US and water-soluble CT myelography were required as adjuncts to MR imaging in delineating subtle spinal cord tethering, arachnoid cyst, diastematomyelia, and severe scoliosis

Fetal MRI and ultrasound of congenital CNS anomalies; Fetales MRT und Ultraschall der angeborenen ZNS-Fehlbildungen

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Pogledic, I.; Reith, W. [Universitaetsklinikum des Saarlandes, Homburg/Saar, Klinik fuer Diagnostische und Interventionelle Neuroradiologie, Homburg/Saar (Germany); Meyberg-Solomayer, G. [Universitaetsklinikum des Saarlandes, Homburg/Saar, Klinik fuer Frauenheilkunde, Geburtsheilkunde und Reproduktionsmedizin, Homburg/Saar (Germany)

2013-02-15

In the last decade the newest technologies, fetal magnetic resonance imaging (MRI) and 3D ultrasound, have given an insight into the minute structures of the fetal brain. However, without knowledge of the basic developmental processes the imaging is futile. Knowledge of fetal neuroanatomy corresponding to the gestational week is necessary in order to recognize pathological structures. Furthermore, a modern neuroradiologist should be acquainted with the three steps in the formation of the cerebral cortex: proliferation, migration and differentiation of neurons in order to be in a position to suspect that there is a pathology and start recognizing and discovering the abnormalities. The fetal MRI has become an important complementary method to ultrasound especially in cortical malformations when confirmation of the prenatal diagnosis is needed and additional pathologies need to be diagnosed. In this manner these two methods help in parental counseling and treatment planning. (orig.) [German] Dank neuer Technologien (z. B. fetale MRT, 3-D-Sonographie) ist es moeglich, kleinste Hirnstrukturen darzustellen. Ohne Kenntnisse der grundlegenden Entwicklungsprozesse des Gehirns waere die Bildgebung jedoch sinnlos. Um pathologische Veraenderungen zu erkennen, ist es notwendig, den Stand der fetalen Neuroanatomie in der entsprechenden Schwangerschaftswoche zu kennen. Heutzutage sollte sich ein Neuroradiologe mit den 3 Schritten der kortikalen Entwicklung - Proliferation, Migration und Differenzierung der Neuronen - vertraut machen. Nur dann wird er in der Lage sein, pathologische Veraenderungen in Betracht zu ziehen, bzw. diese zu erkennen. Die fetale MRT ist besonders wichtig, ergaenzend zur zerebralen Sonographie, zur Diagnosebestaetigung bei kortikalen Veraenderungen und Nachweis weiterer Pathologien. In dieser Kombination ermoeglichen diese Methoden eine adaequate Beratung der Eltern und Planung der Behandlung. (orig.)

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

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An-Shine Chao

2009-01-01

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

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

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Ujjwal K. Rout

2010-11-01

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

Evaluation of Subependymal Gray Matter Heterotopias on Fetal MRI.

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Nagaraj, U D; Peiro, J L; Bierbrauer, K S; Kline-Fath, B M

2016-04-01

Subependymal grey matter heterotopias are seen in a high proportion of children with Chiari II malformation and are potentially clinically relevant. However, despite its growing use, there is little in the literature describing its detection on fetal MRI. Our aim was to evaluate the accuracy in diagnosing subependymal gray matter heterotopias in fetuses with spinal dysraphism on fetal MR imaging. This study is a retrospective analysis of 203 fetal MRIs performed at a single institution for spinal dysraphism during a 10-year period. Corresponding obstetric sonography, postnatal imaging, and clinical/operative reports were reviewed. Of the fetal MRIs reviewed, 95 fetuses were included in our analysis; 23.2% (22/95) were suspected of having subependymal gray matter heterotopias on fetal MR imaging prospectively. However, only 50% (11/22) of these cases were confirmed on postnatal brain MR imaging. On postnatal brain MR imaging, 28.4% (27/95) demonstrated imaging findings consistent with subependymal gray matter heterotopia. Only 40.7% (11/27) of these cases were prospectively diagnosed on fetal MR imaging. Fetal MR imaging is limited in its ability to identify subependymal gray matter heterotopias in fetuses with spinal dysraphism. It is believed that this limitation relates to a combination of factors, including artifacts from fetal motion, the very small size of fetal neuroanatomy, differences in imaging techniques, and, possibly, irregularity related to denudation of the ependyma/subependyma in the presence of spinal dysraphism and/or stretching of the germinal matrix in ventriculomegaly. © 2016 by American Journal of Neuroradiology.

Genetic causes of congenital brain malformations in epilepsy patients

DEFF Research Database (Denmark)

Møller, Rikke Steensbjerre

2008-01-01

The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological va...... genes for developmental brain defects. The overall aim of the present study has been to identify new candidate genes or predisposing factors involved in congenital brain malformations in epilepsy patients.......The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological...... value for the family, and it is essential for proper genetic counselling. The human brain is one of the most complex structures known, and probably many of the 25.000- 30.000 genes that comprise the human genome are involved in its development, which means that thousands of genes could be candidate...

Zika Virus Infection during Pregnancy in Mice Causes Placental Damage and Fetal Demise.

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Miner, Jonathan J; Cao, Bin; Govero, Jennifer; Smith, Amber M; Fernandez, Estefania; Cabrera, Omar H; Garber, Charise; Noll, Michelle; Klein, Robyn S; Noguchi, Kevin K; Mysorekar, Indira U; Diamond, Michael S

2016-05-19

Zika virus (ZIKV) infection in pregnant women causes intrauterine growth restriction, spontaneous abortion, and microcephaly. Here, we describe two mouse models of placental and fetal disease associated with in utero transmission of ZIKV. Female mice lacking type I interferon signaling (Ifnar1(-/-)) crossed to wild-type (WT) males produced heterozygous fetuses resembling the immune status of human fetuses. Maternal inoculation at embryonic day 6.5 (E6.5) or E7.5 resulted in fetal demise that was associated with ZIKV infection of the placenta and fetal brain. We identified ZIKV within trophoblasts of the maternal and fetal placenta, consistent with a trans-placental infection route. Antibody blockade of Ifnar1 signaling in WT pregnant mice enhanced ZIKV trans-placental infection although it did not result in fetal death. These models will facilitate the study of ZIKV pathogenesis, in utero transmission, and testing of therapies and vaccines to prevent congenital malformations. Copyright © 2016 Elsevier Inc. All rights reserved.

[Characteristics of pregnancy and delivery of fetuses affected by either central nervous system malformations or chromosomal abnormalities].

Science.gov (United States)

Friedler, Jordana Mashiach; Mazor, Moshe; Shoham-Vardi, Ilana; Bashiri, Asher

2011-11-01

To determine whether fetuses affected by either chromosomal abnormalities or central nervous system (CNS) malformations are prone to complications during pregnancy and delivery. In this study, 320 singleton pregnancies with CNS malformations and 133 singleton pregnancies with chromosomal abnormaLities were compared with 149,112 singleton births without any known congenital anomalies. Exclusion criteria were: births with other congenital anomalies or malformations, pregnancies Lacking prenatal care and multiple pregnancies. Data was obtained using the computerized birth discharge records. The statistical analysis was performed with the SPSS package. There were no statistically significant differences in maternal age, ethnicity, uterine anomalies or parity. The ratio of general anesthesia was almost double in the study groups compared to the control group: 25% in the CNS malformation group (RR 2.617, CI 2.031-3.372) and 25.6% in the chromosomal abnormality group (RR 2.696, CI 1.825-3.982) and 11.3% in the control group (p malformation group, 20.3% in the chromosomal abnormaLity group and 12% in the control group. A logistic regression model that included previous CS, maLpresentation, non-reassuring fetal heart monitor (NRFHR) and presence of a malformation, concluded that the presence of a malformation was not an independent risk factor for CS. However, indirect causes, such as malpresentation (4.34 OR), were independently associated with the malformations. Fetuses affected by either CNS malformations or chromosomal abnormalities have a higher rate of pregnancy and delivery complications, including those which increase the risk of maternal morbidity and mortality.

Fatores de risco maternos associados à acidose fetal Maternal risk factors associated with fetal acidosis

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José Mauro Madi

2010-09-01

Full Text Available OBJETIVOS: avaliar os fatores de risco maternos associados à acidose fetal. MÉTODOS: estudo tipo caso-controle composto por 188 recém-nascidos, sendo que 47 compuseram o grupo casos (pH de artéria umbilical OBJECTIVES: to assess maternal risk factors associated with fetal acidosis. METHODS: a case-control type study was conducted of 188 neonates, of whom 47 comprised the case group (umbilical arterial pH <7.0 and 141 the control (umbilical arterial pH E7.1 <7.3. The study included only single-gestation neonates without congenital malformations. Both maternal and fetal variables were taken into consideration. Statistical analysis involved the calculation of the raw and adjusted Odds Ratio, Student's t-test, the chi-squared test and multivariate analysis using Enter-method non-conditional logistic regression. The level of statistical significance was set at p<0.05. RESULTS: in the case group higher percentages of caesarian sections and pre-term births were observed, involving almost five times as much intensive care and twenty-five times more likelihood of Apgar in the 5th minute <7. No association was observed between the groups and fetal presentation, mother's age, history of miscarriage, years of schooling of mother or attendance at prenatal sessions. After multivariate analysis, the only risk factors that remained significant were complications relating to the placenta or the umbilical cord. Deliveries involving complications relating to the placenta or the umbilical cord were three times more likely to involve fetal acidemia. CONCLUSIONS: acidemia among neonates was associated with a higher percentage of caesarians, premature births, a need for intensive care and treatment and an Apgar index of <7 in the 5th minute. After multivariate analysis, complications relating to premature displacement of the placenta and the umbilical cord were the only remaining risk factors associated with fetal acidemia.

Antenatal diagnosis of cystic adenomatoid malformation: Effect on patient management

International Nuclear Information System (INIS)

Claiborne, A.K.; McAlister, W.H.; Martin, C.M.; Gast, M.J.

1985-01-01

Congenital adenomatoid malformation (CAM) of the lung was diagnosed at 30 weeks gestation. The mother presented with preterm labor and polyhydramnios. A complex cystic mass was seen in the right lung of the fetus. Additional radiographic and sonographic investigations prior to delivery allowed differentiation of this rare lesion from other cystic thoracic pathology of the fetal period. Careful hospital obstetric management of the mother and fetus for over 3 weeks allowed the delivery of an infant with adequate pulmonary maturity to permit stabilization and surgery on the baby in the first days of life. (orig.)

Prenatal diagnosis of fetal skeletal dysplasia with 3D CT

International Nuclear Information System (INIS)

Miyazaki, Osamu; Horiuchi, Tetsuya; Nishimura, Gen; Sago, Haruhiko; Hayashi, Satoshi; Kosaki, Rika

2012-01-01

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.)

Prenatal diagnosis of fetal skeletal dysplasia with 3D CT

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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.)

Routine screening for fetal anomalies: expectations.

Science.gov (United States)

Goldberg, James D

2004-03-01

Ultrasound has become a routine part of prenatal care. Despite this, the sensitivity and specificity of the procedure is unclear to many patients and healthcare providers. In a small study from Canada, 54.9% of women reported that they had received no information about ultrasound before their examination. In addition, 37.2% of women indicated that they were unaware of any fetal problems that ultrasound could not detect. Most centers that perform ultrasound do not have their own statistics regarding sensitivity and specificity; it is necessary to rely on large collaborative studies. Unfortunately, wide variations exist in these studies with detection rates for fetal anomalies between 13.3% and 82.4%. The Eurofetus study is the largest prospective study performed to date and because of the time and expense involved in this type of study, a similar study is not likely to be repeated. The overall fetal detection rate for anomalous fetuses was 64.1%. It is important to note that in this study, ultrasounds were performed in tertiary centers with significant experience in detecting fetal malformations. The RADIUS study also demonstrated a significantly improved detection rate of anomalies before 24 weeks in tertiary versus community centers (35% versus 13%). Two concepts seem to emerge from reviewing these data. First, patients must be made aware of the limitations of ultrasound in detecting fetal anomalies. This information is critical to allow them to make informed decisions whether to undergo ultrasound examination and to prepare them for potential outcomes.Second, to achieve the detection rates reported in the Eurofetus study, ultrasound examination must be performed in centers that have extensive experience in the detection of fetal anomalies.

Lethal Congenital Malformations in Fetuses-Antenatal Ultrasound or Perinatal Autopsy.

Science.gov (United States)

Grover, Sumit; Garg, Bhavna; Sood, Neena; Arora, Kamaldeep

2017-06-01

Congenital malformations (CMF) are major causes of fetal demise which can be detected antenatally by Ultrasonography (USG). We studied 100 perinatal autopsies for CMF. Sensitivity of USG was determined and accuracy of USG with that of autopsy was compared. At Autopsy 134 individual CMF were seen in 40 cases. The sensitivity of USG in detecting major CMF was 54.47%. A complete agreement between autopsy and USG findings was seen in 13/40 (32.5%) and partial agreement in 17/40 (42.5%) fetuses while autopsy completely changed antenatal diagnosis in 10/40 (25%) fetuses. Major findings were added in all 17 fetuses with partial agreement. In 2 cases, CMF suspected on USG were not detected on autopsy due to fetal maceration. Autopsy significantly adds to the prenatal USG diagnosis and may help in predicting the probability of recurrence, and thus counseling the affected couple to prevent any such future event.

Evaluation of the fetal abdomen by magnetic resonance imaging. Part 2: abdominal wall defects and tumors

Directory of Open Access Journals (Sweden)

Ana Paula Pinho Matos

2018-05-01

Full Text Available Abstract Although ultrasound is still the gold standard for the assessment of fetal malformations, magnetic resonance imaging (MRI has gained great prominence in recent years. In situations in which ultrasound has low sensitivity, such as maternal obesity, abdominal scarring, and oligohydramnios, MRI has proven to be a safe and accurate method. Regarding fetal abdominal wall defects, MRI appears to be widely used in the prognostic assessment of gastroschisis with intestinal atresia or of complications of omphalocele, allowing better perinatal management and parental counseling. In addition, MRI allows the assessment of local invasion of fetal abdominal tumors, with significant prognostic value for the postnatal period. In this article, we review the main MRI findings in the evaluation of fetal abdominal wall defects and tumors.

CONGENITAL MALFORMATIONS: PRENATAL DIAGNOSTICS AND NOVEL CONCEPTION OF MEDICAL HELP TO NEWBORNS

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Yu.F. Isakov

2007-01-01

Full Text Available Current views on basic prenatal diagnostics techniques, as ultrasound, maternal serum biochemical markers (alpha fetoprotein, human chorionic gonadotropin, and unconjugated estriol, and fetal biologic material (chorionic villus sampling, placenta, amniotic liquid, fetal blood, obtained with invasive techniques (chorion biopsy, amniocentesis, cordocentesis, its' efficacy and possible practical application are given in the article. These new conception announce to consolidate three branches providing maternal and children — welfare should consolidate maternal welfare outpatient clinics, maternal hospital and newborn surgery hospital — into one institute, thus allowing to success work of all stages, to avoid transportation and late surgical treatment, to reduce lethal outcomes following surgical treatment of congenital malformations. Primary results of implementation of this conception are presented in the article.Key words: prenatal diagnostics, newborns, congenital mal formations, prevention and prophylactics, diagnostics.

Studies On Some Fetal Rat Organs Following Maternal Hyperthermia

OpenAIRE

El Shabaka, H. A. [حمزة احمد الشبكة

1993-01-01

The present investigation was carried out to determine the histological changes in brain, liver and kidneys of rat fetuses maternally heatstressed at early stage of pregnancy to either high "spiking" temperature of short duration or low temperature of long duration. The number of viable fetuses as well as the fetal weight of the heatstressed groups was significantly reduced compared with corresponding controls. Edema and microphthalmia are the only malformations detected among the viable 18 d...

Fetal growth and adverse birth outcomes in women receiving prescriptions for acetaminophen during pregnancy

DEFF Research Database (Denmark)

Thulstrup, Ane Marie; Sørensen, Henrik Toft; Nielsen, Gunnar Lauge

1999-01-01

not receive any prescription at all. We found more malformations among those who received a prescription with an odds ratio of 2.3 (95% CI 1.0-5.4), but the type of malformations did not indicate a causal link. When restricting the study to first time pregnancies, we identified 58 women who received......We studied the association between acetaminophen exposure during pregnancy and the prevalence of congenital abnormalities and fetal growth. Our study included 123 women who had received a prescription of acetaminophen during pregnancy and/or 30 days before conception and 13,329 controls who did...

Is the diagnostic yield influenced by the indication for fetal autopsy?

Science.gov (United States)

Puri, Ratna Dua; Kotecha, Udhaya; Lall, Meena; Dash, Pratima; Bijarnia-Mahay, Sunita; Verma, Ishwar Chander

2016-08-01

The utility of fetal autopsy to corroborate antenatal ultrasound findings and to aid genetic counseling is well known. However, the ability to identify an underlying cause for the common indications for which it is performed is not well studied. This study aimed to determine if the diagnostic yield of fetal autopsy in identifying the underlying cause is determined by the indication of the autopsy. Five groups of fetuses were defined based on the indication for the autopsy performed in 903 cases: (i) malformations, (ii) intrauterine death (IUD), (iii) cystic hygroma and hydrops fetalis, (iv) isolated abnormalities of amniotic fluid, and (v) intrauterine growth restriction (IUGR). The highest diagnostic yield was in fetuses with isolated abnormalities of amniotic fluid (77%), followed by those with IUGR (75%), with IUD (69.6%), those in group five (55.2%) and lowest (45%) in fetuses with malformations (P autopsy related its common indications, can be utilized to counsel families of the utility of autopsy to establish cause and recurrence risks and thereby assist then to make an informed decision to consent for the procedure. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.

Science.gov (United States)

Coulibaly, Béma; Sigaudy, Sabine; Girard, Nadine; Popovici, Cornel; Missirian, Chantal; Heckenroth, Hélène; Tasei, Anne-Marie; Fernandez, Carla

2010-01-01

Coffine-Siris syndrome or "fifth digit" syndrome is a multiple congenital anomaly-mental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. The etiology of this syndrome remains uncertain. Here we report a stillborn male baby born from consanguineous parents who might represent a very severe form of Coffine-Siris syndrome with cardiac defect and multiple brain malformations including corpus callosum agenesis and Dandy Walker malformation. To the best of our knowledge, it is the first case leading to intrauterine death. Karyotype and array comparative genomic hybridization were normal; these results give additional support to mendelian inheritance for this syndrome. In our family, the most likely mode of inheritance is autosomal recessive and the recurrence is probably as high as 25%. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

[Prenatal diagnosis and treatment of fetal choroid plexus cysts].

Science.gov (United States)

Liang, Mei-Ying; Wang, Hong-Bin; Huang, Xin; Wei, Yan-Qiu

2007-09-01

To discuss the clinical management and significance of the prenatal diagnosis of Fetal Choroid Plexus Cysts (CPC). From May 2004 to March 2007, 55 cases of fetal CPC diagnosed by B-ultrasound during second trimester were prospectively studied. Each case was studied regarding fetal chromosome karyotype, disappearance weeks of the cyst, the clinical outcome and follow-up results respectively. The cases were diagnosed during 16 - 25 gestational weeks. The diameters of the cysts varied from 0.2 cm to 2.4 cm. There were 25 cases of bilateral cysts and 30 cases of unilateral or 50 cases of isolated CPC and 5 cases of complicated CPC. The cysts of all cases who continued pregnancy disappeared before 28 weeks. Fetal chromosome karyotypes were obtained in 50 cases. Among them, two cases were 18-trisomy, and one case was 21-trisomy. Five cases were terminated pregnancy because of abnormal chromosome karyotype or malformation during second trimester. One neonate was diagnosed as ventricular septal defect among 50 cases of follow up. Among these six cases, three were from advanced-age pregnant women, five cases were with abnormal fetal structure and five cases were with the diameter of bilateral or unilateral cysts more than 1.0 cm. (1) Fetal CPC can be diagnosed during second trimester, and the majority disappear before 28 gestational weeks. (2) High risk factors for fetal abnormal chromosome karyotype may be: advanced-age pregnant women, abnormal structure of fetus, and the diameter of bilateral or unilateral cyst more than 1.0 cm. It is suggested that fetal CPC with the high risks should receive fetal chromosome karyotype test during pregnancy.

Long-term outcomes of a transmastoid lateral semicircular canal approach to congenital CSF otorrhea in children associated with recurrent meningitis and severe inner ear malformation.

Science.gov (United States)

Wang, Jie; Li, Yongxin; Chen, Shubin; Hao, Xinping

2016-08-01

To investigate the long-term effectiveness of transmastoid lateral semicircular canal approach (TMLSCCA) to repair cerebrospinal fluid (CSF) leakage in children associated with recurrent meningitis and severe congenital inner malformation. A retrospective study was conducted in a university hospital, academic medical center. Fifteen children with recurrent meningitis, secondary to severe congenital inner ear malformation, were included in the study. All of them had CSF associated otorrhea and treated using TLSCCA to repair CSF otorrhea by packing the vestibule with muscle and fascia. Observation of the status of postoperative CSF leakage, recurrence of meningitis and complication were conducted. None of the cases had recurrent meningitis and CSF leakage after their TLSCCA procedure in the follow-up period of 1-8.5 years. One case presented with transient facial nerve paralysis and completely recovered 3 months later. TLSCCA for CSF otorrhea in children with recurrent meningitis secondary to congenital inner ear malformation is an alternative approach that offers some advantages. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Additive Manufacturing Techniques for the Reconstruction of 3D Fetal Faces

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Domenico Speranza

2017-01-01

Full Text Available This paper deals with additive manufacturing techniques for the creation of 3D fetal face models starting from routine 3D ultrasound data. In particular, two distinct themes are addressed. First, a method for processing and building 3D models based on the use of medical image processing techniques is proposed. Second, the preliminary results of a questionnaire distributed to future parents consider the use of these reconstructions both from an emotional and an affective point of view. In particular, the study focuses on the enhancement of the perception of maternity or paternity and the improvement in the relationship between parents and physicians in case of fetal malformations, in particular facial or cleft lip diseases.

Embryonic death, dwarfism and fetal malformations after irradiation of embryos at the zygote stage. Studies on two mouse strains

International Nuclear Information System (INIS)

Jacquet, P.; Saint-Georges, L. de; Baugnet-Mahieu, L.; Vankerkom, J.

1995-01-01

Female mice of the BALB/c and CF1 strains were mated and irradiated with various doses of X-rays 7 h after presumed fertilization. 18 days later, females were killed and their uteri examined for prenatal mortality at the different stages of development. Living fetuses were weighed and examined for the presence of external malformations. A number of them were also examined for skeletal anomalies. Radiation induced mainly a dose-dependent increase of the preimplantation loss in the BALB/c strain and of the early postimplantation loss in the CF1 strain. Embryos of the BALB/c strain were refractory to the induction of teratogenic effects after such preimplantation irradiation. In CF1 mice, the frequency of malformed fetuses increased regularly after irradiation, the difference with controls being significant for the doses of 10, 50 and 100 cGy. Dwarfism occurrence also appeared to be increased by irradiation in this strain, although the importance of this effect varied depending on the criterion chosen for the assessment of dwarfs. With the definition proposed in the present paper, the increase in the frequency of dwarfs paralleled that of malformed fetuses, being significant after doses of 50 and 100 cGy. Irradiation did not increase the frequency of skeletal anomalies. A careful examination of the various data obtained to date led us to conclude that radiation may possibly be teratogenic in several mouse strains, when administered as early as during the one-cell stage and, to a lesser extent, during the following preimplantation stages. However, early prenatal mortality will remain by far the greatest risk associated with an exposure to radiation during this period. Moreover, the relativity of the risk of abnormality due to such irradiation should be considered in the context of the high prevalence of developmental defects spontaneously occurring during human pregnancy

Embryonic death, dwarfism and fetal malformations after irradiation of embryos at the zygote stage. Studies on two mouse strains

Energy Technology Data Exchange (ETDEWEB)

Jacquet, P.; Saint-Georges, L. de; Baugnet-Mahieu, L. [Laboratory of Radiobiology, Department of Radioprotection, CEN/SCK, Mol (Belgium); Vankerkom, J. [Division of Environmental Research, VITO, Mol (Belgium)

1995-11-01

Female mice of the BALB/c and CF1 strains were mated and irradiated with various doses of X-rays 7 h after presumed fertilization. 18 days later, females were killed and their uteri examined for prenatal mortality at the different stages of development. Living fetuses were weighed and examined for the presence of external malformations. A number of them were also examined for skeletal anomalies. Radiation induced mainly a dose-dependent increase of the preimplantation loss in the BALB/c strain and of the early postimplantation loss in the CF1 strain. Embryos of the BALB/c strain were refractory to the induction of teratogenic effects after such preimplantation irradiation. In CF1 mice, the frequency of malformed fetuses increased regularly after irradiation, the difference with controls being significant for the doses of 10, 50 and 100 cGy. Dwarfism occurrence also appeared to be increased by irradiation in this strain, although the importance of this effect varied depending on the criterion chosen for the assessment of dwarfs. With the definition proposed in the present paper, the increase in the frequency of dwarfs paralleled that of malformed fetuses, being significant after doses of 50 and 100 cGy. Irradiation did not increase the frequency of skeletal anomalies. A careful examination of the various data obtained to date led us to conclude that radiation may possibly be teratogenic in several mouse strains, when administered as early as during the one-cell stage and, to a lesser extent, during the following preimplantation stages. However, early prenatal mortality will remain by far the greatest risk associated with an exposure to radiation during this period. Moreover, the relativity of the risk of abnormality due to such irradiation should be considered in the context of the high prevalence of developmental defects spontaneously occurring during human pregnancy.

Urogenital tract anomalies in children with congenital anorectal malformation

NARCIS (Netherlands)

J.W. Hoekstra

1991-01-01

textabstractThe term 'imperforate anus' covers a variety of congenital anorectal malformations ranging in severity from anal stenosis to cloacal exstrophy. The clinical picture of the anorectal malformation has been known for thousands of years, during which many attempts have been made to find

Congenital peribronchial myofibroblastic tumor: prenatal imaging clues to differentiate from other fetal chest lesions

Energy Technology Data Exchange (ETDEWEB)

Calvo-Garcia, Maria A.; Bitters, Constance; Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States); Lim, Foong-Yen [Cincinnati Children' s Hospital Medical Center, Department of Pediatric Surgery and Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Stanek, Jerzy [Cincinnati Children' s Hospital Medical Center, Department of Pathology, Cincinnati, OH (United States)

2014-04-15

We present a prenatal case of congenital peribronchial myofibroblastic tumor referred as a congenital pulmonary airway malformation (CPAM) with hydrops and polyhydramnios at 30 weeks' gestational age. US and fetal MRI findings did not fit with the referral diagnosis, raising the possibility of intrinsic lung tumor. Fetal hydrops worsened and the baby was successfully delivered by ex utero intrapartum treatment (EXIT) to resection at 31 weeks' gestational age. To the best of our knowledge, this is a unique case of congenital peribronchial myofibroblastic tumor that underwent comprehensive prenatal evaluation and EXIT procedure with good outcome. (orig.)

Congenital peribronchial myofibroblastic tumor: prenatal imaging clues to differentiate from other fetal chest lesions

International Nuclear Information System (INIS)

Calvo-Garcia, Maria A.; Bitters, Constance; Kline-Fath, Beth M.; Lim, Foong-Yen; Stanek, Jerzy

2014-01-01

We present a prenatal case of congenital peribronchial myofibroblastic tumor referred as a congenital pulmonary airway malformation (CPAM) with hydrops and polyhydramnios at 30 weeks' gestational age. US and fetal MRI findings did not fit with the referral diagnosis, raising the possibility of intrinsic lung tumor. Fetal hydrops worsened and the baby was successfully delivered by ex utero intrapartum treatment (EXIT) to resection at 31 weeks' gestational age. To the best of our knowledge, this is a unique case of congenital peribronchial myofibroblastic tumor that underwent comprehensive prenatal evaluation and EXIT procedure with good outcome. (orig.)

Vascular malformations in pediatrics

International Nuclear Information System (INIS)

Reith, W.; Shamdeen, M.G.

2003-01-01

Vascular malformations are the cause of nearly all non-traumatic intracranial hemorrhage in children beyond the neonatal stage. Therefore, any child presenting with spontaneous intracranial hemorrhage should be evaluated for child abuse and for vascular malformations. Intracerebral malformations of the cerebral vasculature include vein of Galen malformations, arteriovenous malformation (AVM), cavernomas, dural arteriovenous fistulas, venous anomalies (DVA), and capillary teleangiectasies. Although a few familial vascular malformation have been reported, the majority are sporadic. Clinical symptoms, diagnostic and therapeutic options are discussed. (orig.) [de

Usefulness of additional fetal magnetic resonance imaging in the prenatal diagnosis of congenital abnormalities.

Science.gov (United States)

We, Ji Sun; Young, Lee; Park, In Yang; Shin, Jong Chul; Im, Soo Ah

2012-12-01

Our aim was to compare the value of fetal magnetic resonance imaging (MRI) with detailed ultrasound in the prenatal diagnosis of congenital abnormalities. This retrospective study reviewed the medical records of pregnant women and their neonates who, after ultrasound, were suspected to have congenital abnormalities. They then underwent a detailed ultrasound examination and a fetal MRI in our institutions. Fetal MRI was performed in 81 cases. Each prenatal presumptive diagnosis, based on detailed ultrasound examination and fetal MRI, was compared with the postnatal confirmed diagnosis. In 58 cases, the data collected were confirmed by the postnatal diagnosis. Supplemental information from fetal MRI was useful in 17 of the 22 cases involving the central nervous system (CNS), two of two cases involving the thorax, nine of nine cases involving the genitourinary system, two of eight cases involving the gastrointestinal system, and ten of ten cases involving complex malformations. Fetal MRI did not provide significantly useful information or facilitate a more accurate diagnosis except for CNS abnormalities. Fetal MRI was not superior to an ultrasound examination in the prenatal detection of congenital abnormalities. A detailed ultrasound examination performed by experienced obstetricians had satisfactory accuracy in the diagnosis of fetal abnormalities compared with fetal MRI. Fetal MRI might be useful in appropriate cases in Korea. Greater effort is required to increase the ultrasound knowledge and skill of competent obstetricians.

Dose additive effects of simvastatin and dipentyl phthalate on testosterone production in the fetal testis: A cummulative risk perspective

Science.gov (United States)

Sex differentiation of the mammalian reproductive tract is a highly regulated process that is driven, in part, by fetal testosterone (T) production. In utero exposure to phthalate esters (PE) during sex differentiation can cause reproductive tract malformations in rats. PE alter ...

A FETAL RAT TESTIS ENDOCRINE AND GENOMIC "SIGNATURE"ACCURATELY PREDICTS THE PHTHALATE SYNDROME OF MALFORMATIONS.

Science.gov (United States)

ABSTRACT BODY: Phthalate esters (PE) vary greatly in their potency to induce malformations during sexual differentiation in the male rat. Since in vitro assay batteries are currently unable to generate useful information on the potential of chemicals within this class to disrupt ...

Prenatal deaths and external malformations caused by x-irradiation during the preimplantation period of ddy mice

International Nuclear Information System (INIS)

Ro, Hee Jeong; Choi, Ihl Bhong; Gu, Yeun Wha

1998-01-01

To evaluate the effects of x-irradiation on prenatal deaths, i.e., preimplantation deaths. embryonic deaths, and fetal deaths, and on external malformations in precompacted preimplantation ddy mice. Pregnant mice (n=85), obtained by limiting the mating time to from 6 to 9 A.M., were segregated into 11 groups, The first five groups (n=26) were irradiated with X-ray doses of 0.1, 0.5, 0.75, 1.5, and 3 Gy, respectively, at 24 h post conception (p.c.) of the preimplantation period. The second five (n=27) groups were irradiated at the same X-ray doses, respectively, but at 48 h p.c. of the preimplantation period. The last group (n=32) was the control group. The uterine contents were examined on the 18th day of gestation for prenatal deaths and external malformations. 1) A statistically significant increase in preimplantation deaths with increasing dose was observed in the experimental groups irradiated at 24 h p.c. and in the groups irradiated at 48 h p.c., as compared to the control group. The threshold dose was close to 0.05 Gy and 0.075 Gy for the irradiations at 24 h p.c. and 48 h p.c. respectively. 2) A statistically significant increase in embryonic deaths with increasing dose was observed in all irradiation groups, except the group irradiated with a dose of 0,1 Gy at 48 h p.c.. 3) No fetal deaths were found in any experimental group. 4) In the experimental groups irradiated at 24 h p.c., anomalies increased with statistical significance, as compared with the control group: 2 exencephalies, 2 open eyelids,' 3 anophthalmias, 2 cleft palates. 2 gastroschisis, 1 abdominal wall defect. 1 leg defect, and 2 short tail anomalies; the threshold dose for external malformations was close to 0.2 Gy at 24 h p.c.. In the groups irradiated at 48 h p.c., 1 open eyelid and 2 short tail anomalies were observed, but there was no statistical significance in those malformations. The results of this study reveal that x-irradiation of precompacted preimplantation ddy mice causes not

Duodenal atresia in an infant with triple-X syndrome: a new associated malformation in 47,XXX.

Science.gov (United States)

Rolle, Udo; Linse, Barbara; Glasow, Simone; Sandig, Klaus Rainer; Richter, Thomas; Till, Holger

2007-08-01

An association between the triple-X syndrome (47,XXX) and gastrointestinal malformations is extremely rare. Most 47,XXX patients present with a normal phenotype, but genitourinary malformations have been described. We report a case of a child with 47,XXX and duodenal atresia. Antenatal ultrasound scan showed a dilated fetal stomach and upper part of the duodenum (double bubble phenomenon) at 31 weeks of gestation in a 31-year-old woman with polyhydramnion. The amniotic fluid karyotype showed 47,XXX. After a scheduled delivery, duodenal atresia was confirmed and treated with duodeno-duodenostomy. The possible association of gastrointestinal and genitourinary tract anomalies requires a detailed postnatal clinical investigation and ultrasonographic examination of the abdomen, retroperitoneum, and pelvis on all triple-X syndrome patients. 2007 Wiley-Liss, Inc.

Severe congenital malformations, family functioning and parents' separation/divorce: a longitudinal study.

Science.gov (United States)

Brenner, M; Côté, S M; Boivin, M; Tremblay, R E

2016-01-01

We aim to explore the association of a severe congenital malformation (SCM) with postnatal family functioning and parents' separation/divorce and to examine if this association might be moderated by birth order of the child and parental level of education. SCM refers to malformations that, without medical intervention, cause handicap or death. Using the Quebec Longitudinal Study of Child Development, an ongoing population-based birth cohort study initiated in 1998, we compared 1675 families of children with and without a SCM to identify if having a child with a SCM was associated with maternal perception of family functioning. We examined if an SCM was associated with parents' separation and examined parents' education level and birth order of the children to evaluate whether these factors had any moderating effect on the results. There were no significant differences in family functioning between families with and without a SCM child at 5 and 17 months. At 5 months, family functioning was significantly better (P = 0.03) for families with a SCM firstborn child than for families with a SCM child that is not firstborn. For parental separation, no significant differences were observed at 5 and 29 months and 4 years. No significant moderating effects were observed for birth order and parental education on parental separation. Families of children with a SCM do not appear to be at higher risk of family dysfunction within the first 17 months after birth nor of parental separation within the first 4 years after birth. Family functioning tends to be worst in families where the child with SCM is the second or subsequent child born. © 2015 John Wiley & Sons Ltd.

Fever in pregnancy and the risk of congenital malformations

DEFF Research Database (Denmark)

Sass, L; Urhoj, S K; Kjærgaard, J

2017-01-01

Background: In a variety of animal species, hyperthermia in pregnancy has been recognized as teratogenic. Hyperthermia interferes with protein synthesis via heat-shock proteins, which can entail membrane disruption, cell death, vascular disruption, and placental infarction. This can induce severe....... Congenital malformations within the first three and a half years of life were categorized according to EUROCAT's classification criteria. Logistic regression models were used to estimate the associations between fever in first trimester and overall congenital malformations and congenital malformations...

[Maternal and fetal outcome in Mexican women with rheumatoid arthritis].

Science.gov (United States)

Saavedra, Miguel A; Sánchez, Antonio; Bustamante, Reyna; Miranda-Hernández, Dafhne; Soliz-Antezana, Jimena; Cruz-Domínguez, Pilar; Morales, Sara; Jara, Luis J

2015-01-01

To report our experience in maternal-fetal outcome in women with RA in a national medical referral center. A retrospective analysis of the records of pregnant women with rheumatoid arthritis attending at a Pregnancy and Autoimmune Rheumatic Diseases Clinic was performed. Maternal-fetal outcomes such as disease activity, preclampsia/eclampsia, rate of live births, abortions, stillbirths, preterm birth, weeks of gestation, birth weight, congenital malformations and use of anti-rheumatic drugs were studied. We included 73 pregnancies in 72 patients. Disease activity was documented in 47.2% of patients during pregnancy and/or postpartum and 87.7% of patients received some antirheumatic drug. Preclampsia developed in 8.2% of cases. The live birth rate was 98.6%, with preterm delivery in 15.9% and low weight at term in 17.6% of cases. Cesarean section was performed in 77.1% of cases. The disease activity was not associated with a higher percentage of maternal-fetal complications. Our study showed that most patients do not experience significant activity of RA during pregnancy, fetal outcome is satisfactory and disease activity did not appear to influence significantly the obstetric outcome.

Fusion of lower limbs with severe urogenital malformation in a newborn, a rare congenital clinical syndrome: case report

Directory of Open Access Journals (Sweden)

Al Hadhoud F

2017-09-01

Full Text Available Fatemah Al Hadhoud,1 Abeer H Kamal,1 Abdulmohsen Al Anjari,1 Michael FE Diejomaoh1,2 1Department of Obstetrics and Gynecology, Maternity Hospital, 2Department of Obstetrics and Gynecology, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait Background: Fused lower limbs combined with severe urogenital malformation, also known as sirenomelia, is a rare congenital clinical syndrome. The etiology is unknown, and the outcome for the affected fetus is rather uncertain. Case report: Mrs RB, a Kuwaiti woman primigravida, married to a non-consanguineous husband, had uneventful antenatal care in a private health service, until she was admitted to the Maternity Hospital, Kuwait, at 31 weeks of gestation with a 3-hour history of ruptured membranes. She had a negative family history for diabetes mellitus, and her past surgical/medical/gynecological history was noncontributory. General physical examination revealed a healthy parturient with normal vital signs, clear lungs and normal heart sounds. Obstetric examination revealed a fundal height compatible with the gestational age; there was a single living fetus in breech presentation; she was not in labor. The mother was managed conservatively with antibiotics and dexamethasone injections. Labor ensued later, progressing rapidly to the second stage. Assisted breech delivery was performed, and a live baby, birth weight 1570 g and Apgar score 3/9, was delivered. The neonate had multiple congenital abnormalities, including fusion of both lower limbs, ambiguous genitalia, cloacal anomaly and tracheoesophageal fistula. The neonate was admitted to the neonatal intensive care unit, fully investigated, managed medically and surgically and eventually discharged home after a hospital stay of 123 days for further management. Conclusion: A case of peculiar fetal anomaly called sirenomelia, the first case in Kuwait, has been presented. Survival of such babies requires costly management with average results

A new classification for cochleovestibular malformations.

Science.gov (United States)

Sennaroglu, Levent; Saatci, Isil

2002-12-01

defective fundus at the lateral end. In two ears the IAC was absent. In all seven cases of common cavity malformations, there was a bony defect at the lateral end of the IAC. In five of them the IAC was enlarged, whereas in two the IAC was narrow. All patients with IP-I had an enlarged IAC, whereas in patients with type II disease, four had a normal IAC and 10 had an enlarged IAC. All cases of IP-II had an enlarged vestibular aqueduct, whereas this finding was not present in any of the cases of IP-I. In all cases, the vestibular aqueduct findings were symmetrical on both sides (simultaneously normal or enlarged). No patient demonstrated enlargement or any other abnormalities involving the cochlear aqueduct. Radiological findings of congenital malformations in the present study suggested two different types of incomplete partition. Cystic cochleovestibular malformation (IP-I) and the classic Mondini deformity (IP-II). The type I malformation is less differentiated than the type II malformation. Classic Mondini deformity has three components (a cystic apex, dilated vestibule, and large vestibular aqueduct), whereas type I malformation has an empty, cystic cochlea and vestibule without an enlarged vestibular aqueduct. Mondini deformity represents a later malformation, so the amount of dysplasia is much less than in type II. Therefore, it is more accurate and useful for clinical purposes to classify these malformations (in descending order of severity) as follows: Michel deformity, cochlear aplasia, common cavity, IP-I (cystic cochleovestibular malformation), cochlear hypoplasia, and IP-II (Mondini deformity). Only in this way can these complex malformations be grouped precisely and the results of cochlear implantation compared.

[Clinical analysis of 102 patients with congenital inner ear malformation].

Science.gov (United States)

Zhu, X; Lian, N; Cai, Z

1995-01-01

Hearing loss and CT findings of 200 ears from 102 cases with congenital malformation of inner ear were included in our study. Hearing loss was typically bilateral severe, or total deafness. 75 percent of them were found deaf within one-year-old. In addition, 47 patients' (46%) mothers were noted to have caught a cold in first trimester of pregnancy. Temporal bone abnormalties were described as five types: 1. Michel malformation, 2. Mondini malformation, 3. enlargement of the vestibular aqueducts, 4. developmental deformity of cochlear aqueduct, 5. developmental deformity of internal acoustic meatus. Most cases showed malformations of vestibule or vestibular aqueducts.

Cerebral palsy and congenital malformations

DEFF Research Database (Denmark)

Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge

2007-01-01

AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

Defining the molecular pathologies in cloaca malformation: similarities between mouse and human

Directory of Open Access Journals (Sweden)

Laura A. Runck

2014-04-01

Full Text Available Anorectal malformations are congenital anomalies that form a spectrum of disorders, from the most benign type with excellent functional prognosis, to very complex, such as cloaca malformation in females in which the rectum, vagina and urethra fail to develop separately and instead drain via a single common channel into the perineum. The severity of this phenotype suggests that the defect occurs in the early stages of embryonic development of the organs derived from the cloaca. Owing to the inability to directly investigate human embryonic cloaca development, current research has relied on the use of mouse models of anorectal malformations. However, even studies of mouse embryos lack analysis of the earliest stages of cloaca patterning and morphogenesis. Here we compared human and mouse cloaca development and retrospectively identified that early mis-patterning of the embryonic cloaca might underlie the most severe forms of anorectal malformation in humans. In mouse, we identified that defective sonic hedgehog (Shh signaling results in early dorsal-ventral epithelial abnormalities prior to the reported defects in septation. This is manifested by the absence of Sox2 and aberrant expression of keratins in the embryonic cloaca of Shh knockout mice. Shh knockout embryos additionally develop a hypervascular stroma, which is defective in BMP signaling. These epithelial and stromal defects persist later, creating an indeterminate epithelium with molecular alterations in the common channel. We then used these animals to perform a broad comparison with patients with mild-to-severe forms of anorectal malformations including cloaca malformation. We found striking parallels with the Shh mouse model, including nearly identical defective molecular identity of the epithelium and surrounding stroma. Our work strongly suggests that early embryonic cloacal epithelial differentiation defects might be the underlying cause of severe forms of anorectal malformations

Tricuspid valve dysplasia with severe tricuspid regurgitation: fetal pulmonary artery size predicts lung viability in the presence of small lung volumes.

Science.gov (United States)

Nathan, A T; Marino, B S; Dominguez, T; Tabbutt, S; Nicolson, S; Donaghue, D D; Spray, T L; Rychik, J

2010-01-01

Congenital tricuspid valve disease (Ebstein's anomaly, tricuspid valve dysplasia) with severe tricuspid regurgitation and cardiomegaly is associated with poor prognosis. Fetal echocardiography can accurately measure right atrial enlargement, which is associated with a poor prognosis in the fetus with tricuspid valve disease. Fetal lung volumetric assessments have been used in an attempt to predict viability of fetuses using ultrasonogram and prenatal MRI. We describe a fetus with tricuspid dysplasia, severe tricuspid regurgitation, right atrial enlargement and markedly reduced lung volumes. The early gestational onset of cardiomegaly with bilateral lung compression raised the possibility of severe lung hypoplasia with decreased broncho-alveolar development. Use of fetal echocardiography with measurement of pulmonary artery size combined with prenatal MRI scanning of lung volumes resulted in an improved understanding of this anomaly and directed the management strategy towards a successful Fontan circulation. 2010 S. Karger AG, Basel.

Use of fetal tissues for immunoreconstitution in horses with severe combined immunodeficiency

International Nuclear Information System (INIS)

Perryman, L.E.

1980-01-01

The authors have initiated studies designed to identify and characterize those parameters which must be considered in order to optimize immunoreconstitution following fetal tissue transplantation. The objectives of the first phase of experiments were to define ontogeny of lymphocyte function in equine fetal tissues and to determine if fetal liver and thymus, in combination, would immunologically reconstitute horses with combined immunodeficiency. (Auth.)

Causes and Mechanisms of Intrauterine Hypoxia and Its Impact on the Fetal Cardiovascular System: A Review

Directory of Open Access Journals (Sweden)

Damian Hutter

2010-01-01

Full Text Available Until today the role of oxygen in the development of the fetus remains controversially discussed. It is still believed that lack of oxygen in utero might be responsible for some of the known congenital cardiovascular malformations. Over the last two decades detailed research has given us new insights and a better understanding of embryogenesis and fetal growth. But most importantly it has repeatedly demonstrated that oxygen only plays a minor role in the early intrauterine development. After organogenesis has taken place hypoxia becomes more important during the second and third trimester of pregnancy when fetal growth occurs. This review will briefly adress causes and mechanisms leading to intrauterine hypoxia and their impact on the fetal cardiovascular system.

Supratentorial CNS malformations

International Nuclear Information System (INIS)

Zlatareva, D.

2012-01-01

Full text: Clinical suspicion of a developmental anomaly of the central nervous system (CNS) is a frequent indication for performing and magnetic resonance imaging (MRI) examination of the brain. Classification systems for malformation of the CNS are constantly revised according to newer scientific research. Developmental abnormalities can be classified in two main types. The first category consists of disorders of organogenesis in which genetic defects or any ischemic, metabolic, toxic or infectious insult to the developing brain can cause malformation. These malformations result from abnormal neuronal and glial proliferation and from anomalies of neuronal migration and or cortical organization. They are divided into supra- and infratentorial and may involve grey or white matter or both. The second category of congenital brain abnormalities is disorders of histogenesis which result from abnormal cell differentiation with a relatively normal brain appearance. Supratentorial CNS malformations could be divided into anomalies in telencephalic commissure, holoprosencephalies and malformations in cortical development. There are three main telencephalic commissures: the anterior commissure, the hippocampal commissure and the corpus callosum. Their morphology (hypoplasia, hyperplasia, agenesis, dysgenesis, even atrophy) reflects the development of the brain. Their agenesis, complete or partial, is one of the most commonly observed features in the malformations of the brain and is a part of many syndromes. Malformations of cortical development (MCD) are heterogeneous group of disease which result from disruption of 3 main stages of cortical development. The common clinical presentation is refractory epilepsy and or developmental delay. The most common MCD are heterotopias, focal cortical dysplasia, polymicrogyria, schizencephaly, pachygyria and lizencephaly. The exact knowledge of the brain anatomy and embryology is mandatory to provide a better apprehension of the

Direct Puncture Embolization of Scalp Arteriovenous Malformation in a Patient with Severe Hemophilia A: A Case Report

International Nuclear Information System (INIS)

Lee, Kyung Mi; Kim, Eui Jong; Park, Bong Jin; Kim, Keon Ha

2011-01-01

We present a case of scalp arteriovenous malformation (AVM) in a patient with severe hemophilia A. The 22-year-old man presented with a pulsatile right parietal scalp mass. Digital subtraction angiography revealed an AVM in the right parietal scalp, supplied by superficial temporal and occipital arteries that drained into multiple venous structures. We successfully performed direct puncture embolization followed by surgical resection of the scalp AVM in conjunction with supplemental infusion of coagulation factor VIII before, during and after the embolization and the operation.

Direct Puncture Embolization of Scalp Arteriovenous Malformation in a Patient with Severe Hemophilia A: A Case Report

Energy Technology Data Exchange (ETDEWEB)

Lee, Kyung Mi; Kim, Eui Jong [Dept. of Radiology, Kyung Hee University Hospital, Kyung Hee University Graduate School of Medicine, Seoul (Korea, Republic of); Park, Bong Jin [Dept. of Neurosurgery, Kyung Hee University Hospital, Kyung Hee University Graduate School of Medicine, Seoul (Korea, Republic of); Kim, Keon Ha [Dept. of Radiology, Samsug Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

2011-09-15

We present a case of scalp arteriovenous malformation (AVM) in a patient with severe hemophilia A. The 22-year-old man presented with a pulsatile right parietal scalp mass. Digital subtraction angiography revealed an AVM in the right parietal scalp, supplied by superficial temporal and occipital arteries that drained into multiple venous structures. We successfully performed direct puncture embolization followed by surgical resection of the scalp AVM in conjunction with supplemental infusion of coagulation factor VIII before, during and after the embolization and the operation.

Simvastatin and dipentyl phthalate lower testosterone production and exhibit dose additive effects on the fetal testis via distinct mechanistic pathways

Science.gov (United States)

Sex differentiation of the mammalian reproductive tract is a highly regulated process that is driven, in part, by fetal testosterone (T) production. In utero exposure to phthalate esters (PE) during sex differentiation can result in reproductive tract malformations in rats. PE al...

Congenital bronchopulmonary foregut malformations: concepts and controversies

International Nuclear Information System (INIS)

Newman, Beverley

2006-01-01

This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions are discussed in more detail, particularly regarding controversial issues in classification, understanding, imaging and management. (orig.)

Congenital bronchopulmonary foregut malformations: concepts and controversies

Energy Technology Data Exchange (ETDEWEB)

Newman, Beverley [University of Pittsburgh School of Medicine and Children' s Hospital of Pittsburgh, Pittsburgh, PA (United States)

2006-08-15

This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions are discussed in more detail, particularly regarding controversial issues in classification, understanding, imaging and management. (orig.)

[Rare case of congenital cystic adenomatoid malformation associated with polycystic kidney disease].

Science.gov (United States)

Jabłoński, Janusz; Jankowski, Zbigniew; Sitkiewicz, Anna; Lewandowska, Małgorzata; Andrzejewska, Ewa

2011-01-01

Congenital cystic adenomatoid malformation (CCAM) is a rare pulmonary abnormality that results from aberrant fetal lung development. It about 4-26% of cases it can be associated with other congenital abnormalities. We describe a case of congenital cystic adenomatoid malformation 2 associated with polycystic kidney disease. The association of these two congenital malformations is exceptional. Only four similar cases have been reported in the literature. A 2-year-old girl was referred to the Department of Paediatric Surgery and Oncology Medical University of Lodz with pneumonia and left pneumothorax. For three weeks prior to referral the patient was treated with antibiotics. Chest x-ray revealed hyperinflation of left upper lobe with mediastinal shift to right. Computer tomographic scan of the lung revealed multiple cyst in the left upper lobe, left-site pneumothorax and mediastinal shift to the right. The patient underwent thoracotomy. Intraoperatively, multiple cysts in the left upper lobe were found and left upper lobectomy was performed. Histologic study was compatible with type 2 congenital cystic adenomatoid malformation. Ultrasound examination showed multilocular cysts in both kidneys. The dimensions of the cysts were: MWR4. 54x45x45 mm and 25x21x24 mm on the left and right sides, respectively. Significant increase in cyst size on the left side was observed. Ten months after first hospitalization resection of the cystic lower pole of the left kidney was performed. The presence of even a single renal cyst in a child with CCAM is an indication for further follow up examinations.

Abortion for fetal CNS malformations: religious aspects.

Science.gov (United States)

Steinberg, Avraham

2003-08-01

Abortion is one of the most widely discussed medical-ethical subjects in medical, legal, philosophical, and religious literature as well as in the lay press. There is hardly a religion or country in the world that is not currently concerned about this issue. The complexity of the topic relates to the fact that it deals with a being that is close to us but not identical to us. On the other hand, the fetus is not like a plant or even like a living being in the animal kingdom. Yet the fetus is not a complete and independent human being either. There are strongly opposing philosophical/religious viewpoints on abortion. On the one hand, pro-life groups and the Roman Catholic Church absolutely oppose abortion. They view the fetus as a full and independent human being, with absolute rights equal to those of the mother. According to this view, the right of the fetus to life can never be disregarded, and abortion is viewed as murder. On the other hand, the permissive, feminist, liberal view, emphasizes the basic right of a woman over her body. This right justifies abortion on demand solely dependent on the woman's wishes at any stage of pregnancy and for any reason whatsoever. This view totally ignores the rights of the fetus and views it as a part of the mother's body. This article deals with some aspects of the approaches of various religions to abortion due to fetal indications, in particular the Jewish viewpoint.

Patient and fetal dose in diagnostic x-rays and radiotherapy in Bangkok, Thailand

International Nuclear Information System (INIS)

Pataramontree, J.; Wangsuphachart, S.; Apaiphonlacharn, J.; Chaichan, P.; Sompradit, S.; Suteerakul, K.; Thamwerawong, W.

2001-01-01

In 1999 the multicenter study of the patient surface dose was conducted at Department of Radiology of Chulalongkorn Hospital, another two university hospitals and a hospital in the suburb. Adult female patients were selected to measure the entrance skin dose and accumulated dose by using the thermoluminescent dosimeters and the kerma area product meter, respectively. The fetal doses were calculated by Monte Carlo method using the computer program written by Le Heron J.C. The average fetal doses were studied for each diagnostic radiographic procedure. The fetus got 0.29, 0.35, 2.63 mGy when its mother had radiography of pelvis, lumbosacral spine, excretory urography respectively. The estimated fetal doses for barium meal, barium enema and renal angiography were 1.47, 33.5 and 3.68 mGy, respectively. The fetal dose varies so much about 2-3 times of the average fetal dose due to equipment and techniques. The study of lower abdomen by computed tomography gave 48.4 mGy on average to a fetus. The scattered dose level outside radiotherapeutic x-rays at fetal position in Random Phantom depends on the primary beam area rather than the energy of radiation. If the threshold dose for fetal malformation is 0.1 Gy, the minimum safety distance for him is 22 cm from beam edges for the tumor dose of 60 Gy. (author)

Outcomes in Continuing Pregnancies Diagnosed with a Severe Fetal Abnormality and Implication of Antenatal Neonatology Consultation: A 10-Year Retrospective Study.

Science.gov (United States)

Hostalery, Laura; Tosello, Barthélémy

2017-06-01

To describe a population choosing to continue their pregnancy despite a severe fetal abnormality and to evaluate the role of antenatal neonatology consultation in perinatal decision-making. A 10-year (2005-2015) retrospective descriptive study in a single Multidisciplinary Prenatal Diagnosis Center in South France. A series of pregnancies with severe fetal abnormalities were collected by a person outside the decision making process and/or the child's care. Thirty-nine pregnancies were included, among which 12 couples chose the perinatal palliative care. In total, there were 25 live births (10 later died, with median of survival of 52.5 h [16-943.5]); only five infants received a palliative care plan at birth. The choice to continue a pregnancy diagnosed with severe fetal pathology is on the rise in France. Treatment options point to standardize perinatal palliative care provided by trained perinatal professionals using standardized practices.

Chronic antepartum maternal hyperoxygenation in a case of severe fetal Ebstein's anomaly with circular shunt physiology

Directory of Open Access Journals (Sweden)

Alisa Arunamata

2017-01-01

Full Text Available Perinatal mortality remains high among fetuses diagnosed with Ebstein's anomaly of the tricuspid valve. The subgroup of patients with pulmonary valve regurgitation is at particularly high risk. In the setting of pulmonary valve regurgitation, early constriction of the ductus arteriosus may be a novel perinatal management strategy to reduce systemic steal resulting from circular shunt physiology. We report the use of chronic antepartum maternal oxygen therapy for constriction of the fetal ductus arteriosus and modulation of fetal pulmonary vascular resistance in a late presentation of Ebstein's anomaly with severe tricuspid valve regurgitation, reversal of flow in the ductus arteriosus, and continuous pulmonary valve regurgitation.

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

Science.gov (United States)

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

1984-09-01

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

Chiari Malformation

Science.gov (United States)

... the back of the skull, just above the spine. When a child has a Chiari malformation, the space for the ... a portion of the top vertebra in the spine to reduce pressure in that area. If a child with a Chiari malformation also has hydrocephalus, the ...

Intracranial arteriovenous malformation: relationships between clinical and radiographic factors and ipsilateral steal severity

International Nuclear Information System (INIS)

Batjer, H.H.; Devous, M.D. Sr.; Seibert, G.B.; Purdy, P.D.; Ajmani, A.K.; Delarosa, M.; Bonte, F.J.

1988-01-01

Intracranial arteriovenous malformations (AVMs) are high flow shunts that may jeopardize the perfusion of adjacent tissue. Clinical and radiographic data from 62 patients were analyzed to determine their relationship to the severity of steal measured by single photon emission computed tomography (SPECT). The ipsilateral steal index [ISteal(i)] was determined by dividing regional cerebral blood flow (rCBF) values within hand-drawn regions of hypoperfusion in the ipsilateral hemisphere by total brain flow, which was calculated as the average rCBF of each hemisphere. Of the patients, 40% were less than 30 years of age, 45% were 30 to 50 years old, and 15% were over 50. Forty-eight per cent presented with hemorrhage and 34% presented with progressive deficits. There was angiographic steal in 37%, and postoperative hyperemic complications developed in 21%. All patients had ipsilateral regions of hypoperfusion. The ISteal(i) was less than 0.7 in 23 (37%), 0.7 to 0.8 in 20 (32%), and greater than 0.8 in 19 (31%). The ISteal(i) was significantly less severe in the patients over 50; 78% of these patients had an ISteal(i) of greater than 0.8 (P less than 0.01). A history of hemorrhage was associated with less severe steal than that in patients who had not bled (P = 0.088). Patients presenting with a history of progressive deficits had increased severity of steal compared with those without progressive deficits (P less than 0.05). A trend toward decreased severity of steal was noted in patients with unfavorable outcomes

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

Science.gov (United States)

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

1996-06-01

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

Fetal Gender and Several Cytokines Are Associated with the Number of Fetal Cells in Maternal Blood - An Observational Study

DEFF Research Database (Denmark)

Schlütter, Jacob Mørup; Kirkegaard, Ida; Petersen, Olav Bjørn

2014-01-01

OBJECTIVE: To identify factors influencing the number of fetal cells in maternal blood. METHODS: A total of 57 pregnant women at a gestational age of weeks 11-14 were included. The number of fetal cells in maternal blood was assessed in 30 ml of blood using specific markers for both enrichment...

Fetal musculoskeletal malformations with a poor outcome: ultrasonographic, pathologic, and radiographic findings

International Nuclear Information System (INIS)

Lee, Soo Hyun; Cho, Jeong Yeon; Song, Mi Jin; Min, Jee Yeon; Han, Byoung Hee; Lee, Young Ho; Cho, Byung Jae; Kim, Seung Hyup

2002-01-01

The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy. Careful ultrasonographic examination of a fetus helps detect such anomalies, and a number of characteristic features may suggest possible differential diagnoses. During the last five years, we have encountered 39 cases of such anomalies, and the typical prenatal ultrasonographic and pathologic findings of a number of those are described in this article

Immunohistochemical study on the fetal rat pituitary in hyperthermia-induced exencephaly

OpenAIRE

Watanabe, Yuichi G.; 渡辺, 勇一

2002-01-01

Hyperthermia of fetal rats is known to cause malformations of various organs including brain. The present study was carried out to investigate the effect of the hyperthermia-induced brain damages on the development of the adenohypophysis. Mother rats of Day 9.5 of pregnancy were anesthetized and immersed in hot water (43℃) for 15 min. At Day 21.5 of gestation, fetuses were removed by caesarian section and examined for exencephaly. Hyperthermal stress induced varying degrees of exencephaly in ...

Can postmortem fetal MR imaging replace autopsy?

International Nuclear Information System (INIS)

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

2001-01-01

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

Anomalous facial nerve canal with cochlear malformations.

Science.gov (United States)

Romo, L V; Curtin, H D

2001-05-01

Anteromedial "migration" of the first segment of the facial nerve canal has been previously identified in a patient with a non-Mondini-type cochlear malformation. In this study, several patients with the same facial nerve canal anomaly were reviewed to assess for the association and type of cochlear malformation. CT scans of the temporal bone of 15 patients with anteromedial migration of the first segment of the facial nerve canal were collected from routine departmental examinations. In seven patients, the anomalous course was bilateral, for a total of 22 cases. The migration was graded relative to normal as either mild/moderate or pronounced. The cochlea in each of these cases was examined for the presence and size of the basilar, second, and apical turns. The turns were either absent, small, normal, or enlarged. The CT scans of five patients with eight Mondini malformations were examined for comparison. The degree of the facial nerve migration was pronounced in nine cases and mild/moderate in 13. All 22 of these cases had associated cochlear abnormalities of the non-Mondini variety. These included common cavity anomalies with lack of definition between the cochlea and vestibule (five cases), cochleae with enlarged basilar turns and absent second or third turns (five cases), and cochleae with small or normal basilar turns with small or absent second or third turns (12 cases). None of the patients with Mondini-type cochlear malformations had anteromedial migration of the facial nerve canal. Anteromedial migration of the facial nerve canal occurs in association with some cochlear malformations. It did not occur in association with the Mondini malformations. A cochlea with a Mondini malformation, being similar in size to a normal cochlea, may physically prohibit such a deviation in course.

First approximation to congenital malformation rates in embryos and hatchlings of sea turtles.

Science.gov (United States)

Bárcenas-Ibarra, Annelisse; de la Cueva, Horacio; Rojas-Lleonart, Isaias; Abreu-Grobois, F Alberto; Lozano-Guzmán, Rogelio Iván; Cuevas, Eduardo; García-Gasca, Alejandra

2015-03-01

Congenital malformations in sea turtles have been considered sporadical. Research carried out in the Mexican Pacific revealed high levels of congenital malformations in the olive ridley, but little or no information is available for other species. We present results from analyses of external congenital malformations in olive ridley, green, and hawskbill sea turtles from Mexican rookeries on the Pacific coast and Gulf of Mexico. We examined 150 green and hawksbill nests and 209 olive ridley nests during the 2010 and 2012 nesting seasons, respectively. Olive ridley eggs were transferred to a hatchery and incubated in styrofoam boxes. Nests from the other two species were left in situ. Number of eggs, live and dead hatchlings, and eggs with or without embryonic development were registered. Malformation frequency was evaluated with indices of prevalence and severity. Mortality levels, prevalence and severity were higher in olive ridley than in hawksbill and green sea turtles. Sixty-three types of congenital malformations were observed in embryos, and dead or live hatchlings. Of these, 38 are new reports; 35 for wild sea turtles, three for vertebrates. Thirty-one types were found in hawksbill, 23 in green, and 59 in olive ridley. The head region showed a higher number of malformation types. Malformation levels in the olive ridley were higher than previously reported. Olive ridleys seem more prone to the occurrence of congenital malformations than the other two species. Whether the observed malformation levels are normal or represent a health problem cannot be currently ascertained without long-term assessments. © 2015 Wiley Periodicals, Inc.

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

OpenAIRE

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

2017-01-01

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

Prematurity and fetal lung response after tracheal occlusion in fetuses with severe congenital diaphragmatic hernia.

Science.gov (United States)

Sananes, Nicolas; Rodo, Carlota; Peiro, Jose Luis; Britto, Ingrid Schwach Werneck; Sangi-Haghpeykar, Haleh; Favre, Romain; Joal, Arnaud; Gaudineau, Adrien; Silva, Marcos Marques da; Tannuri, Uenis; Zugaib, Marcelo; Carreras, Elena; Ruano, Rodrigo

2016-09-01

To evaluate the independent association of fetal pulmonary response and prematurity to postnatal outcomes after fetal tracheal occlusion for congenital diaphragmatic hernia. Fetal pulmonary response, prematurity (prematurity (prematurity was not statistically associated with mortality after controlling for fetal pulmonary response (aOR 0.52, 95% CI 0.12-2.30, p=0.367). Fetal pulmonary response after FETO is the most important factor associated with survival, independently from the gestational age at delivery.

Radiosurgery for brain arteriovenous malformations

International Nuclear Information System (INIS)

Latorzeff, I.; Schlienger, M.; Sabatier, J.; Borius, P.Y.; Lotterie, J.A.; Bourdin, S.; Menegalli, D.; Cognard, C.; Januel, A.C.; Desal, H.; Debono, B.; Blond, S.

2012-01-01

Radiosurgery as treatment for arteriovenous malformations has shown a good efficacy in reducing intracranial bleeding due to rupture. The choice of therapeutic modalities is based on evolutive risk and arteriovenous malformations volume, patient profile and risks stratification following therapeutic techniques (microsurgery, radiosurgery, embolization). Nidus size, arteriovenous malformations anatomical localization, prior embolization or bleeding, distributed dose are predictive factors for radio-surgery's good results and tolerance. This review article will highlight arteriovenous malformations radiosurgery indications and discuss recent irradiation alternatives for large arteriovenous malformation volumes. (authors)

Postnatal nutritional treatment of neurocognitive deficits in fetal alcohol spectrum disorder.

Science.gov (United States)

Bastons-Compta, A; Astals, M; Andreu-Fernandez, V; Navarro-Tapia, E; Garcia-Algar, O

2018-04-01

Ethanol is the most important teratogen agent in humans. Prenatal alcohol exposure can lead to a wide range of adverse effects, which are broadly termed as fetal alcohol spectrum disorder (FASD). The most severe consequence of maternal alcohol abuse is the development of fetal alcohol syndrome, defined by growth retardation, facial malformations, and central nervous system impairment expressed as microcephaly and neurodevelopment abnormalities. These alterations generate a broad range of cognitive abnormalities such as learning disabilities and hyperactivity and behavioural problems. Socioeconomic status, ethnicity, differences in genetic susceptibility related to ethanol metabolism, alcohol consumption patterns, obstetric problems, and environmental influences like maternal nutrition, stress, and other co-administered drugs are all factors that may influence FASD manifestations. Recently, much attention has been paid to the role of nutrition as a protective factor against alcohol teratogenicity. There are a great number of papers related to nutritional treatment of nutritional deficits due to several factors associated with maternal consumption of alcohol and with eating and social disorders in FASD children. Although research showed the clinical benefits of nutritional interventions, most of work was in animal models, in a preclinical phase, or in the prenatal period. However, a minimum number of studies refer to postnatal nutrition treatment of neurodevelopmental deficits. Nutritional supplementation in children with FASD has a dual objective: to overcome nutritional deficiencies and to reverse or improve the cognitive deleterious effects of prenatal alcohol exposure. Further research is necessary to confirm positive results, to determine optimal amounts of nutrients needed in supplementation, and to investigate the collective effects of simultaneous multiple-nutrient supplementation.

Effects of Co60 gamma radiation on Biomphalaria glabrata (Say, 1818) Embryo. II. Malformations

International Nuclear Information System (INIS)

Okazaki, K.; Kawano, T.

1990-01-01

The morphogenetic effects of ionizing radiation were investigated in Biomphalaria glabrata embryos irradiated in the cleavage, blastula, gastrula, young trochophore and trochophore stages with 5 to 25 Gy doses of 60 CO gamma radiation. The number of malformed embryos rapidly increased with increasing radiation dose, reaching a maximum between 5th to 8th day after irradiation in all stages analyzed. Susceptibility to malformation induction was higher the younger than the age of the irradiated embryo. However, for the cleavage stage the frequency of malformed embryos was inversely proportional to radiation dose for the same radiation dose. Several types of morphogenetic malformations were obtained, among then cephalic malformations, exogastrula, shell malformations and embryos with everted stomodeum, unspecific malformations being the most frequent. The results show that the types of malformation induced by radiation probably are not radiation-specific and do not depend on the dose applied [pt

Immunohistochemical Study on the Fetal Rat Pituitary in Hyperthermia-lnduced Exencephaly(Endocrinology)

OpenAIRE

Yuichi G., Watanabe; Department of Biology, Faculty of Science, Niigata University

2002-01-01

Hyperthermia of fetal rats is known to cause malformations of various organs including brain. The present study was carried out to investigate the effect of the hyperthermia-induced brain damages on the development of the adenohypophysis. Mother rats of Day 9.5 of pregnancy were anesthetized and immersed in hot water (43℃) for 15 min. At Day 21.5 of gestation, fetuses were removed by caesarian section and examined for exencephaly. Hyperthermal stress induced varying degrees of exencephaly in ...

Congenital non-central nervous system malformations in cerebral palsy: a distinct subset?

Science.gov (United States)

Self, Lauren; Dagenais, Lynn; Shevell, Michael

2012-08-01

The aim of this article was to identify and contrast the subset of children with cerebral palsy (CP) and non-central nervous system (CNS) congenital malformations with children with CP but no coexisting non-CNS congenital malformations. A population-based regional comprehensive CP registry was used to identify children with CP who had non-CNS congenital malformations (n = 34; 19 males, 15 females; 22 classified as Gross Motor Function Classification System [GMFCS] levels I-III, 12 as GMFCS level IV or V). Their clinical features were then compared with other children with CP without non-CNS congenital malformations (n = 207; 115 males, 92 females; 138 classified as GMFCS levels I-III, 69 as GMFCS level IV or V). Children with CP and non-CNS congenital malformations did not differ from those without in terms of neurological subtype distribution or functional severity, as measured by the GMFCS. Also, there was no association with previous maternal infections (i.e. toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus 2 [TORCH]), maternal fever, use of illicit substances, asphyxia, neonatal encephalopathy, intraventricular haemorrhage, or septicaemia. The incidence of comorbidities such as convulsions, communication difficulties, gavage feeding, cortical blindness, and auditory impairment was not higher in this subgroup. The incidence of congenital non-CNS malformations among children with CP is appreciable. Children with these non-CNS malformations do not appear to differ from other children with CP regarding neurological subtype, functional severity, and comorbidities, or maternal or obstetrical factors. Thus, the specific presence of a non-CNS congenital malformation does not appear to assist the practitioner in the management or understanding of a child's CP. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

Proteinuria in preeclampsia: Not essential to diagnosis but related to disease severity and fetal outcomes.

Science.gov (United States)

Dong, Xin; Gou, Wenli; Li, Chunfang; Wu, Min; Han, Zhen; Li, Xuelan; Chen, Qi

2017-04-01

Preeclampsia is a leading cause of maternal and perinatal morbidity and mortality globally and proteinuria can be one of the cardinal features of this disease. However, studies about the association of the amount of proteinuria and the severity of preeclampsia, and perinatal outcomes are limited. Data on 239 women with preeclampsia were retrospectively collected from a university teaching hospital from September 2011 to June 2013 and analysed. Data included all clinical parameters and proteinuria in a 24h urine collection. In cases of severe preeclampsia, significantly fewer patients had proteinuria levels 0.3g/L, but there was no difference in cases of severe preeclampsia when proteinuria levels were >0.3g/L. Furthermore, when proteinuria levels were >0.3g/L, the frequency of severe preeclampsia in each group was significantly higher than the frequency of mild pre-eclampsia cases. Time of onset was significantly earlier in patients with proteinuria >3g/L in a 24h urine collection, but time between the onset of preeclampsia and delivery was not correlated with the amount of proteinuria. The birth weight was significantly lower in patients with proteinuria >3g/L. The incidence of fetal growth restriction or stillbirth was significantly higher in patients with proteinuria >5g/L. Our data demonstrate that the amount of proteinuria is not associated with the severe of preeclampsia, once proteinuria is detected, but is related to the severity of preeclampsia. The adverse fetal outcomes appear to be the function of prematurity rather than proteinuria itself. Copyright © 2017 International Society for the Study of Hypertension in Pregnancy. Published by Elsevier B.V. All rights reserved.

Underdiagnosis of Mild Congenital Anorectal Malformations

NARCIS (Netherlands)

Jonker, Jara E.; Trzpis, Monika; Broens, Paul M. A.

Objective: To determine whether the frequency and severity of congenital anorectal malformations (CARMs) differs by sex. Study design: We included 129 patients (0-319 weeks old) diagnosed with CARMs, who had been referred to our Department of Pediatric Surgery between 2004 and 2013. Rectoperineal

Brain Vascular Malformation Consortium: Overview, Progress and Future Directions.

Science.gov (United States)

Akers, Amy L; Ball, Karen L; Clancy, Marianne; Comi, Anne M; Faughnan, Marie E; Gopal-Srivastava, Rashmi; Jacobs, Thomas P; Kim, Helen; Krischer, Jeffrey; Marchuk, Douglas A; McCulloch, Charles E; Morrison, Leslie; Moses, Marsha; Moy, Claudia S; Pawlikowska, Ludmilla; Young, William L

2013-04-01

Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in "research silos" with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, inter-institutional group of investigators, one of 17 consortia in the Office of Rare Disease Research Rare Disease Clinical Research Network (RDCRN). The diseases under study are: familial Cerebral Cavernous Malformations type 1, common Hispanic mutation (CCM1-CHM); Sturge-Weber Syndrome (SWS); and brain arteriovenous malformation in hereditary hemorrhagic telangiectasia (HHT). Each project is developing biomarkers for disease progression and severity, and has established scalable, relational databases for observational and longitudinal studies that are stored centrally by the RDCRN Data Management and Coordinating Center. Patient Support Organizations (PSOs) are a key RDCRN component in the recruitment and support of participants. The BVMC PSOs include Angioma Alliance, Sturge Weber Foundation , and HHT Foundation International . Our networks of clinical centers of excellence in SWS and HHT, as well as our PSOs, have enhanced BVMC patient recruitment. The BVMC provides unique and valuable resources to the clinical neurovascular community, and recently reported findings are reviewed. Future planned studies will apply successful approaches and insights across the three projects to leverage the combined resources of the BVMC and RDCRN in advancing new biomarkers and treatment strategies for patients with vascular malformations.

Avaliação crítica dos benefícios e limitações da ressonância magnética como método complementar no diagnóstico das malformações fetais A critical review of benefits and limitations of magnetic resonance imaging as a complementary method in the diagnosis of fetal malformations

Directory of Open Access Journals (Sweden)

Renato Luis da Silveira Ximenes

2008-10-01

Full Text Available OBJETIVO: Avaliar, por meio da ressonância magnética, uma série de fetos com diagnóstico ultra-sonográfico de malformação, a fim de estabelecer os benefícios e limites diagnósticos proporcionados pela técnica de ressonância magnética fetal, em comparação com a ultra-sonografia. MATERIAIS E MÉTODOS: Foram estudadas 40 mulheres entre 15-35 semanas de gestação com diagnóstico de anomalia fetal durante o exame de ultra-sonografia. As pacientes foram encaminhadas para o estudo complementar com ressonância magnética. As indicações para o estudo da ressonância magnética fetal foram: anomalias do sistema nervoso central, do tórax, do abdome, renais, esqueléticas e tumores. A avaliação pós-natal incluiu a revisão das imagens de ultra-sonografia e ressonância magnética, o acompanhamento do nascimento, exames laboratoriais, radiológicos e necropsia. RESULTADOS: Os resultados mostraram que os estudos complementares com ressonância magnética fetal trouxeram informações adicionais em 60% dos casos estudados. Os benefícios da ressonância magnética fetal foram: ampliação da avaliação global, aumento do campo de avaliação, maior resolução tecidual pelo uso de seqüências, e avaliação em pacientes obesas e com oligoidrâmnio. Os limites da ressonância magnética fetal foram: evitar exame no primeiro trimestre, avaliação do fluxo sanguíneo, movimentação fetal, claustrofobia materna, estudo do coração fetal e esqueleto. CONCLUSÃO: A ressonância magnética fetal pode ser utilizada como método complementar para a avaliação das malformações fetais.OBJECTIVE: The present study was aimed at evaluating by means of magnetic resonance imaging a series of fetuses with sonographic diagnosis of malformation, establishing the diagnostic benefits and limitations of fetal magnetic resonance imaging as compared with ultrasonography. MATERIALS AND METHODS: Forty women between 15-35 gestational weeks and previously

Emergency hepatectomy for hepatic arteriovenous malformation combined with pulmonary hypertension in an infant

Directory of Open Access Journals (Sweden)

Naruhiko Murase

2015-12-01

Full Text Available Patients with hepatic arteriovenous malformations rarely present with pulmonary hypertension. We report the case of a 3-month-old boy who developed severe pulmonary hypertension due to a hepatic arteriovenous malformation. The use of pulmonary vasodilators to treat the patient's pulmonary hypertension worsened his high-output heart failure. This is the first case in which emergency hepatectomy rescued a patient with hepatic arteriovenous malformations who developed pulmonary hypertension.

Assessment of fetal testis function and postnatal development of the male rat following in utero exposure to diethylhexyl phthalate, dipentyl phthalate, diisobutyl phthalate, diisoheptyl phthalate and diisononyl phthalate

Science.gov (United States)

Phthalate esters are a large class of plasticizer compounds widely used in many consumer product applications. Some phthalates induce male fetal endocrine toxicity and reproductive malformations through disruption of hormone production during sexual differentiation. Regulatory ag...

Fetal MR imaging of posterior intracranial dural sinus thrombosis: a report of three cases with variable outcomes

International Nuclear Information System (INIS)

Byrd, Sharon E.; Elias, Dean; Abramowicz, Jacques S.; Kent, Paul; Kimura, Robert E.; Heydeman, Peter T.

2012-01-01

Thrombosis of fetal intracranial dural sinuses is a rare entity. A specific type of midline dural sinus thrombosis (DST) at the torcular Herophili with extension into the superior sagittal sinus (SSS) was initially seen on fetal US and was referred to fetal MRI for definite diagnosis and better delineation. Retrospective comparison to medical literature of three cases, diagnosed at our institution, of midline fetal DST with MR imaging findings and clinical outcomes. We reviewed MRI findings on T2-weighted images of our three cases of fetal midline DST and clinical outcomes of these fetuses and compared our findings to medical literature. The MR imaging and clinical findings of our cases extend over 6 years. They consist of three pregnant women, 31-39 years of age each with a single fetus, with fetal MR imaging performed at different gestational ages (GA). Case 1 the MR imaging was performed at 21 5/7 weeks' GA, case 2 at 24 and 33 4/7 weeks' GA, and case 3 at 22 and 25 weeks' GA. Postnatal MRI was performed in case 2 at 6 months of life and case 3 at 1 day of life. Clinical follow-up occurred during the last 6 years. In all of our cases, T2-W MR imaging demonstrated ballooned midline torcular Herophili with iso- to hypointense mass with or without focal eccentric area of greater hypointensity occupying the torcular Herophili with extension into the SSS. Case 3 had associated leptomeningeal dural vascular malformation overlying the left cerebral hemisphere with development of migrational disorder in the left cerebral hemisphere. Clinical outcome consisted of fetal demise in case 1, normal postnatal outcome in case 2 and severe brain damage with poor postnatal outcome in case 3. Our findings of large iso-hypointense thrombus with or without a focal eccentric area more hypointense to thrombus in a dilated torcular Herophili with extension into the SSS on T2-W images corresponds to the majority of cases of this rare type of DST in the medical literature. (orig.)

Fetal MR imaging of posterior intracranial dural sinus thrombosis: a report of three cases with variable outcomes

Energy Technology Data Exchange (ETDEWEB)

Byrd, Sharon E.; Elias, Dean [Rush Medical College and Rush University Medical Center, Department of Diagnostic Radiology and Nuclear Medicine Section of Neuroradiology, Chicago, IL (United States); Abramowicz, Jacques S. [Rush Medical College and Rush University Medical Center, Department of Obstetrics and Gynecology, Rush Fetal and Neonatal Medicine Center, Chicago, IL (United States); Kent, Paul [Rush Medical College and Rush University Medical Center, Department of Pediatrics, Division of Hematology and Oncology, Chicago, IL (United States); Kimura, Robert E. [Rush Medical College and Rush University Medical Center, Department of Pediatrics, Division of Neonatology, Chicago, IL (United States); Heydeman, Peter T. [Rush Medical College and Rush University Medical Center, Department of Pediatrics, Division of Pediatric Neurology, Chicago, IL (United States)

2012-05-15

Thrombosis of fetal intracranial dural sinuses is a rare entity. A specific type of midline dural sinus thrombosis (DST) at the torcular Herophili with extension into the superior sagittal sinus (SSS) was initially seen on fetal US and was referred to fetal MRI for definite diagnosis and better delineation. Retrospective comparison to medical literature of three cases, diagnosed at our institution, of midline fetal DST with MR imaging findings and clinical outcomes. We reviewed MRI findings on T2-weighted images of our three cases of fetal midline DST and clinical outcomes of these fetuses and compared our findings to medical literature. The MR imaging and clinical findings of our cases extend over 6 years. They consist of three pregnant women, 31-39 years of age each with a single fetus, with fetal MR imaging performed at different gestational ages (GA). Case 1 the MR imaging was performed at 21 5/7 weeks' GA, case 2 at 24 and 33 4/7 weeks' GA, and case 3 at 22 and 25 weeks' GA. Postnatal MRI was performed in case 2 at 6 months of life and case 3 at 1 day of life. Clinical follow-up occurred during the last 6 years. In all of our cases, T2-W MR imaging demonstrated ballooned midline torcular Herophili with iso- to hypointense mass with or without focal eccentric area of greater hypointensity occupying the torcular Herophili with extension into the SSS. Case 3 had associated leptomeningeal dural vascular malformation overlying the left cerebral hemisphere with development of migrational disorder in the left cerebral hemisphere. Clinical outcome consisted of fetal demise in case 1, normal postnatal outcome in case 2 and severe brain damage with poor postnatal outcome in case 3. Our findings of large iso-hypointense thrombus with or without a focal eccentric area more hypointense to thrombus in a dilated torcular Herophili with extension into the SSS on T2-W images corresponds to the majority of cases of this rare type of DST in the medical literature

Is Fetal Growth Restriction Associated with a More Severe Maternal Phenotype in the Setting of Early Onset Pre-Eclampsia? A Retrospective Study

Science.gov (United States)

Weiler, Jane; Tong, Stephen; Palmer, Kirsten R.

2011-01-01

Background Both pre-eclampsia and fetal growth restriction are thought to result from abnormal placental implantation in early pregnancy. Consistent with this shared pathophysiology, it is not uncommon to see growth restriction further confound the course of pre-eclampsia and vice versa. It has been previously suggested that superimposed growth restriction is associated with a more severe pre-eclamptic phenotype, however this has not been a consistent finding. Therefore, we set out to determine whether the presence of fetal growth restriction among women with severe early-onset pre-eclampsia was associated with more severe maternal disease compared to those without a growth-restricted fetus. Methods and Findings We undertook a retrospective cohort study of women presenting to a tertiary hospital with severe early-onset pre-eclampsia (restriction. However, no significant difference was seen in relation to the severity of pre-eclampsia between those with or without a growth-restricted baby. The presence of concomitant growth restriction was however associated with a significantly increased risk of stillbirth (p = 0.003) and total perinatal mortality (p = 0.02). Conclusions The presence of fetal growth restriction among women with severe early-onset pre-eclampsia is not associated with increased severity of maternal disease. However the incidence of stillbirth and perinatal death is significantly increased in this sub-population. PMID:22046419

Features of pregnancy and childbirth in women with congenital malformations of the fetus development

Directory of Open Access Journals (Sweden)

S. R. Halych

2015-03-01

Odessa National Medical University   Key words: pregnancy, childbirth, women, congenital malformations, fetus development.   Abstract   There is a very high percentage (39.8% of  childbirth at the age of 30 years old and more. Pregnant patients with CMF are subjects to complications, including predominating placental dysfunction (46.7%, which manifested itself in the form of fetus’s development retardation (26.3%, hypamnion (13.5% or a combination of fetus’s development retardation and hypamnion (6.9 %. Early preeclampsia (40%, threatened miscarriage (35%, hydramnios (19.03%, preeclampsia (25%, wrong position of the fetus and placenta (20% are among other complications of pregnancy course. Parturient women who had fetal birth defects developed complications of childbirth, including a violation of the child’s state (fetal distress - 31%, and abnormal contractions (anomalies of labor activity - 18%; premature rupture of the amniotic membranes - 18%. The high frequency of operative delivery by cesarean section (47% needs further careful analysis of the indications.

Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging

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Righini, Andrea; Parazzini, Cecilia; Izzo, Giana [Children' s Hospital ' ' V. Buzzi' ' , Department of Radiology and Neuroradiology, Milan (Italy); Cesaretti, Claudia [Children' s Hospital ' ' V. Buzzi' ' , Department of Radiology and Neuroradiology, Milan (Italy); Ospedale Maggiore Policlinico, Medical Genetics Unit, Fondazione I.R.C.C.S. Ca' Granda, Milan (Italy); Conte, Giorgio [Children' s Hospital ' ' V. Buzzi' ' , Department of Radiology and Neuroradiology, Milan (Italy); University of Milan, Department of Health Sciences, Milan (Italy); Frassoni, Carolina; Inverardi, Francesca [Fondazione I.R.C.C.S. Istituto Neurologico ' ' C. Besta' ' , Clinical Epileptology and Experimental Neurophysiology Unit, Milan (Italy); Bulfamante, Gaetano; Avagliano, Laura [San Paolo Hospital, Division of Human Pathology, Milan (Italy); Rustico, Mariangela [Children' s Hospital ' ' V. Buzzi' ' , Department of Obstetrics and Gynaecology, Prenatal Diagnosis, Milan (Italy)

2016-03-15

Ganglionic eminence (GE) is a transient fetal brain structure that harvests a significant amount of precursors of cortical GABA-ergic interneurons. Prenatal magnetic resonance (MR) imaging features of GE anomalies (i.e., cavitations) have already been reported associated with severe micro-lissencephaly. The purpose of this report was to illustrate the MR imaging features of GE anomalies in conditions other than severe micro-lissencephalies. Among all the fetuses submitted to prenatal MR imaging at our center from 2005 to 2014, we collected eight cases with GE anomalies and only limited associated brain anomalies. The median gestational age at the time of MR imaging was 21 weeks ranging from 19 to 29 weeks. Two senior pediatric neuroradiologists categorized the anomalies of the GE region in two groups: group one showing cavitation in the GE region and group two showing enlarged GE region. For each fetal case, associated cranial anomalies were also reported. Five out of the eight cases were included in group one and three in group two. Besides the GE region abnormality, all eight cases had additional intracranial anomalies, such as mild partial callosal agenesis, vermian hypoplasia and rotation, cerebellar hypoplasia, ventriculomegaly, enlarged subarachnoid spaces, molar tooth malformation. Ultrasound generally detected most of the associated intracranial anomalies, prompting the MR investigation; on the contrary in none of the cases, GE anomalies had been detected by ultrasound. Our observation expands the spectrum of human GE anomalies, demonstrating that these may take place also without associated severe micro-lissencephalies. (orig.)

Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging

International Nuclear Information System (INIS)

Righini, Andrea; Parazzini, Cecilia; Izzo, Giana; Cesaretti, Claudia; Conte, Giorgio; Frassoni, Carolina; Inverardi, Francesca; Bulfamante, Gaetano; Avagliano, Laura; Rustico, Mariangela

2016-01-01

Ganglionic eminence (GE) is a transient fetal brain structure that harvests a significant amount of precursors of cortical GABA-ergic interneurons. Prenatal magnetic resonance (MR) imaging features of GE anomalies (i.e., cavitations) have already been reported associated with severe micro-lissencephaly. The purpose of this report was to illustrate the MR imaging features of GE anomalies in conditions other than severe micro-lissencephalies. Among all the fetuses submitted to prenatal MR imaging at our center from 2005 to 2014, we collected eight cases with GE anomalies and only limited associated brain anomalies. The median gestational age at the time of MR imaging was 21 weeks ranging from 19 to 29 weeks. Two senior pediatric neuroradiologists categorized the anomalies of the GE region in two groups: group one showing cavitation in the GE region and group two showing enlarged GE region. For each fetal case, associated cranial anomalies were also reported. Five out of the eight cases were included in group one and three in group two. Besides the GE region abnormality, all eight cases had additional intracranial anomalies, such as mild partial callosal agenesis, vermian hypoplasia and rotation, cerebellar hypoplasia, ventriculomegaly, enlarged subarachnoid spaces, molar tooth malformation. Ultrasound generally detected most of the associated intracranial anomalies, prompting the MR investigation; on the contrary in none of the cases, GE anomalies had been detected by ultrasound. Our observation expands the spectrum of human GE anomalies, demonstrating that these may take place also without associated severe micro-lissencephalies. (orig.)

Congenital spinal malformations

International Nuclear Information System (INIS)

Ertl-Wagner, B.B.; Reiser, M.F.

2001-01-01

Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [de

A brief history of fetal echocardiography and its impact on the management of congenital heart disease.

Science.gov (United States)

Maulik, Dev; Nanda, Navin C; Maulik, Devika; Vilchez, Gustavo

2017-12-01

Congenital heart disease (CHD), the most common congenital malformation, is associated with adverse outcome. Development of fetal echocardiography has made prenatal diagnosis of CHD a reality, and in the process revolutionized its management. This historical review briefly narrates this development over the decades focusing on the emergence of the primary modalities of fetal echocardiography comprised of the time-motion mode, two-dimensional B-mode, spectral Doppler, color Doppler, and three- and four-dimensional cardiac imaging. Collaboration between clinicians and engineers has been central to these advances. Also discussed are the accuracy and impact of fetal echocardiography on the management of CHD, and especially its role in the prenatal diagnosis of critical CHD in individualizing the management and improving the outcome. Despite these advances, most cases of CHD are not identified prenatally, emphasizing the continuing need for further technological and educational innovation and improvement. © 2017, Wiley Periodicals, Inc.

Amnioinfusion before 26 weeks' gestation for severe fetal growth restriction with oligohydramnios: preliminary pilot study.

Science.gov (United States)

Takahashi, Yuichiro; Iwagaki, Shigenori; Chiaki, Rika; Iwasa, Tomotake; Takenaka, Motoki; Kawabata, Ichiro; Itoh, Mitsuaki

2014-03-01

The prognosis for severe fetal growth restriction (FGR) with severe oligohydramnios before 26 weeks' gestation (WG) is currently poor; furthermore, its management is controversial. We report the innovative new management of FGR, such as therapeutic amnioinfusion and tocolysis. For FGR and severe oligohydramnios before 26 WG complicated with absent or reversed umbilical artery end-diastolic flow velocity and/or deceleration by ultrasonography, we performed transabdominal amnioinfusion with tocolysis. Cases with multiple anomalies were excluded. Survival rate and long-term prognosis were analyzed. Among 570 FGR cases, 18 were included in the study. Mean diagnosis and delivery were at 22.6 ± 2.0 and 28.7 ± 3.3 WG. Median birthweight was 625 g (-4.2 standard deviation). Final survival rate was 11/13 (85%). There were five fetal deaths. In seven cases, oligohydramnios improved. Growth was detected in 10/18 fetuses. Furthermore, 8/8 decelerations, 4/12 cases of reversed umbilical artery end-diastolic flow velocity, 7/14 cases of brain-sparing effect, and 6/13 venous Doppler abnormalities were improved. When we detected umbilical cord compression, 8/10 cases were rescued. Eleven infants were followed up for an average of 5 years; one case of cerebral palsy with normal development and 10 cases with intact motor functions without major neurological handicap were confirmed. In cases of extremely severe FGR before 26 WG with oligohydramnios and circulatory failure, amnioinfusion might be a promising, innovative tool. © 2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology.

Pediatric central nervous system vascular malformations

Energy Technology Data Exchange (ETDEWEB)

Burch, Ezra A. [Brigham and Women' s Hospital, Department of Radiology, Boston, MA (United States); Orbach, Darren B. [Boston Children' s Hospital, Neurointerventional Radiology, Boston, MA (United States)

2015-09-15

Pediatric central nervous system (CNS) vascular anomalies include lesions found only in the pediatric population and also the full gamut of vascular lesions found in adults. Pediatric-specific lesions discussed here include infantile hemangioma, vein of Galen malformation and dural sinus malformation. Some CNS vascular lesions that occur in adults, such as arteriovenous malformation, have somewhat distinct manifestations in children, and those are also discussed. Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation). The treatment of pediatric CNS vascular malformations has greatly benefited from advances in endovascular therapy, including technical advances in adult interventional neuroradiology. Dramatic advances in therapy are expected to stem from increased understanding of the genetics and vascular biology that underlie pediatric CNS vascular malformations. (orig.)

Pediatric central nervous system vascular malformations

International Nuclear Information System (INIS)

Burch, Ezra A.; Orbach, Darren B.

2015-01-01

Pediatric central nervous system (CNS) vascular anomalies include lesions found only in the pediatric population and also the full gamut of vascular lesions found in adults. Pediatric-specific lesions discussed here include infantile hemangioma, vein of Galen malformation and dural sinus malformation. Some CNS vascular lesions that occur in adults, such as arteriovenous malformation, have somewhat distinct manifestations in children, and those are also discussed. Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation). The treatment of pediatric CNS vascular malformations has greatly benefited from advances in endovascular therapy, including technical advances in adult interventional neuroradiology. Dramatic advances in therapy are expected to stem from increased understanding of the genetics and vascular biology that underlie pediatric CNS vascular malformations. (orig.)

[Cochlear implant in patients with congenital malformation of the inner ear].

Science.gov (United States)

Wan, Liang-cai; Guo, Meng-he; Qian, Yu-hong; Liu, Shuang-xiu; Zhang, Hong-zheng; Chen, Shuai-jun; Chen, Hao; Gong, Jian

2009-10-01

To summarize the clinical experience with multi-channel cochlear implantation in patients with inner ear malformations and evaluate and the outcomes of speech rehabilitation. A retrospective study was conducted in 295 patients receiving cochlear implantation from 1998 to 2007, including 25 patients with large vestibular aqueduct syndrome (LVAS), 9 with Modini malformation, and 5 with common cavity deformity. All the patients received the Nucleus24 cochlear implants. In LVAS cases, 4 had Nucleus 24R (ST) implants, 8 had Contuor implants, 10 had Contuor Advance, and the remaining cases used Nucleus24(M) straight-electrode implants. Severe gusher appeared in 3 cases of LVAS, and perilymph fluctuation were seen in other 15 cases. Four patients with Mondini malformation and 2 with common cavity malformation also experienced severe gusher, but the electrodes were inserted smoothly in all the patients without postoperative facial paralysis or cerebrospinal fluid leakage. The hearing threshold in these patients was similar to that in patients with normal cochlear structure. After speech rehabilitation for over 6 months, the abilities of speech discrimination and spoken language improved in all the cases in comparison with the preoperative lingual functions. Multi-channel cochlear implantation can be performed in patients with inner ear malformation, but should not be attempted in patients with poor cochlear and cochlear nerve development. A comprehensive pre-operative radiographic and audiological evaluation is essential.

[Deeper understanding of fetal acid-base equilibrium].

Science.gov (United States)

Roemer, V M

1993-01-01

Actual pH-measurements, which are used worldwide for quality control in obstetrics, give no information about the extent of metabolic and respiratory pathways involved in the synthesis of H(+)-ions. Therefore we looked for a new method to quantify the de novo-synthesis of H(+)-ions due to both pathways and to correlate them with the clinical condition of the newborn. Using pH-, pCO2 (mmHg)- (and pO2 (mmHg)) measurements in umbilical blood (artery (UA), vein (UV)) of 8882 newborns, which were delivered vaginally in vertex position without cord-entanglements and without major malformations, the pHqu40 (metabolic pathway) and the pHnm (non-metabolic pathway) were computed. Thus both components of fetal acidosis could be determined together with actual pH in one unity i.e. H(+)-ion-concentration (nmol/l). By introduction of a reference-point, which denotes the mean actual pH- (7.373) and the mean pCO2- (36.4 mmHg) value in umbilical venous blood of 599 Apgar 10-babies it is possible to compute the mean de novo-synthesis of H(+)-ions in different clinical neonatal conditions (Apgar-score 1 min). In the case of slightly depressed neonates (Apgar 7-10) the respiratory acidosis dominates the metabolic one. In moderately asphyxiated newborns (Apgar 4-6) both components are equally involved. In severe fetal asphyxia (Apgar 0-3) both components can probably be determined by extrapolation: the metabolic component seems to be dominant. The computed mean actual pH-value in babies scoring Apgar 0 amounts to approximately 7.100 +/- 0.075. The diagnostic range of Apgar-scoring and pH-measurements is not congruent: newborns with actual pH-values in UA-blood between 6,7 and approximately 7,1 do show Apgar-scores (1 min) of 0 or 1 without a possibility to further differentiate the degree of asphyxia by clinical criteria. This means, that actual pH-measurements are of high clinical importance in severely asphyxiated newborns. They should not be abandoned. The intercorrelation of some

Dandy-Walker Malformation

African Journals Online (AJOL)

rme

Dandy-Walker malformation is a rare congenital malformation and involves the cerebellum and fourth ventricle. The condition is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. A large number of concomitant problems may be ...

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

Science.gov (United States)

Filges, Isabel; Friedman, Jan M

2015-10-01

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

The Use of Fetal Noninvasive Electrocardiography

Directory of Open Access Journals (Sweden)

Igor Lakhno

2016-01-01

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

Early unexpected diagnosis of fetal life-limiting malformation; antenatal palliative care and parental decision.

Science.gov (United States)

Mariona, Federico; Burnett, Marianne; Zoma, Melody; Blake, Janice; Khouri, Hanna

2017-11-02

Conjoined twins are an infrequent occurrence in obstetric practice. Live-conjoined twins on a late preterm triplet pregnancy is an even rarer event. The objective of this study is to emphasize the critical importance of perinatal palliative care and non-directive parental counseling, informed decision making and respect for autonomy following full disclosure of findings, fetal life-limiting diagnosis, treatment alternatives, maternal-fetal potential complications, and most likely perinatal outcomes. Early surprise prenatal diagnosis, comprehensive parental counseling, palliative care, and perinatal care of a set of conjoined twins and a singleton. Cesarean delivery of a set of conjoined twins and a singleton at 34 weeks' gestation. Immediate neonatal death of the conjoined twins, intact survival, and discharge of the singleton. Review of the database on previously reported similar cases. It is very important to utilize simple and direct language for parents to understand the grave prognosis to the pregnancy. Care alternatives in view of the maternal physical risks and psychological impact of carrying a high order abnormal multiple pregnancy, along with the possible side effects on the singleton.

Asthma exacerbations during the first trimester of pregnancy and congenital malformations: revisiting the association in a large representative cohort.

Science.gov (United States)

Blais, Lucie; Kettani, Fatima-Zohra; Forget, Amélie; Beauchesne, Marie-France; Lemière, Catherine

2015-07-01

We previously reported an increased prevalence of any congenital malformation among women experiencing moderate-to-severe asthma exacerbations during the first trimester of pregnancy, based on a study in which 90.1% of the cohort of women were social welfare recipients. This study re-examined the association between asthma exacerbations and congenital malformations in a new large representative cohort of asthmatic pregnant women. A cohort of 36 587 pregnancies in asthmatic women was reconstructed from Québec Province administrative databases (1998-2009). Occurrences of asthma exacerbations during the first trimester of pregnancy were assessed and categorised into severe, moderate and no such exacerbations. For comparison, we also considered moderate and severe asthma exacerbations combined. Congenital malformations were identified using diagnoses recorded in the hospitalisation database. Generalised estimation equations were used to estimate adjusted ORs of congenital malformations. The prevalence of any congenital malformation was 19.1%, 11.7% and 12.0% among women with severe, moderate and no such exacerbations during the first trimester, respectively. The adjusted OR for all malformations was 1.64 (95% CI 1.02 to 2.64) when women with severe exacerbations were compared with those in the reference group, while no association was seen for moderate exacerbations. Also, no association was observed between cases of moderate and severe asthma exacerbations combined and any congenital malformation. Only severe asthma exacerbations were found to significantly increase the risk of congenital malformations in this representative study. Previous studies possibly overestimated the risk because they were based mainly on women at a lower socioeconomic status. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Surgical management of venous malformations.

Science.gov (United States)

Loose, D A

2007-01-01

Among vascular malformations, the predominantly venous malformations represent the majority of cases. They form a clinical entity and therefore need clear concepts concerning diagnosis and treatment. This paper presents an overview of contemporary classification as well as tactics and techniques of treatment. According to the Hamburg Classification, predominantly venous malformations are categorized into truncular and extratruncular forms, with truncular forms distinguished as obstructions and dilations, and extratruncular forms as limited or infiltrating. The tactics of treatment represent surgical and non-surgical methods or combined techniques. Surgical approaches utilize different tactics and techniques that are adopted based on the pathologic form and type of the malformation: (I) operation to reduce the haemodynamic activity of the malformation; (II) operation to eliminate the malformation; and (III) reconstructive operation. As for (I), a type of a tactic is the operation to derive the venous flow. In (II), the total or partial removal of the venous malformation is demonstrated subdivided into three different techniques. In this way, the infiltrating as well as the limited forms can be treated. An additional technique is dedicated to the treatment of a marginal vein. Approach (III) involves the treatment of venous aneurysms, where a variety of techniques have been successful. Long-term follow-up demonstrates positive results in 91% of the cases. Congenital predominantly venous malformations should be treated according to the principles developed during the past decades in vascular surgery, interventional treatment and multidisciplinary treatment. The days of predominantly conservative treatment should be relegated to the past. Special skills and experiences are necessary to carry out appropriate surgical strategy, and the required operative techniques should be dictated by the location and type of malformation and associated findings.

Di-pentyl phthalate dosing during sexual differentiation disrupts fetal testis function and postnatal development of the male Sprague dawley rat with greater relative potency than other phthalates

Science.gov (United States)

Phthalate esters (PEs) constitute a large class of plasticizer compounds that are widely used for many consumer product applications. Ten or more members of the PE class of compounds have been shown to induce male fetal endocrine toxicity and postnatal reproductive malformations ...

Pregnancies and Fetal Anomalies Incompatible with Life in Chile

Science.gov (United States)

Vivaldi, Lieta

2017-01-01

Abstract Chile allows abortion under no circumstances. Whether it’s fetal anomaly incompatible with life or congenital malformation resulting in little or no life expectancy, all Chilean women are expected to carry their pregnancies to term. In this context, in January 2015 the Chilean Congress began debating a bill to legalize abortion on three grounds, including fatal congenital malformation. The medical community, including midwives, has presented its views for and against, especially on how the law may affect clinical practices; in addition, women, many of whom have experienced a fatal congenital malformation diagnosis, have weighed in. This qualitative study draws on 22 semi-structured interviews with nine certified nurse-midwives, one neonatologist, nine obstetrician-gynecologists, one psychiatrist, one psychologist, and one sociologist who provide care during gestation, pregnancy, delivery, and post-delivery in the public and private sectors, plus three interviews with two women and the former partner of a woman who underwent the experience. These interviews starkly illustrate the plight facing women carrying nonviable fetuses, including women’s shock upon receiving the diagnosis, their feelings of bereavement and loss, and the clinical practices used in an attempt to ease their suffering under the weight of exceedingly difficult legal restrictions. These interviews confirmed that compelling women to carry nonviable fetuses to term violates their human rights. They also show that the chances of legislative change are real and that such change will present new challenges to the Chilean health care system. PMID:28630544

Avaliação da vitalidade fetal em gestações complicadas pela plaquetopenia materna moderada ou grave Assessment of fetal well-being in pregnancies complicated by maternal moderate to severe thrombocytopenia

Directory of Open Access Journals (Sweden)

Roseli Mieko Yamamoto Nomura

2011-10-01

Full Text Available OBJETIVO: Analisar os resultados da avaliação da vitalidade fetal em gestações complicadas por plaquetopenia materna moderada ou grave. MÉTODOS: No período de abril de 2001 a julho de 2011, foram analisados, retrospectivamente, os dados de prontuários de 96 gestantes com diagnóstico de plaquetopenia na gestação. Foram analisados os seguintes exames de avaliação da vitalidade fetal realizados no período anteparto: cardiotocografia, perfil biofísico fetal, índice de líquido amniótico e doplervelocimetria das artérias umbilicais. RESULTADOS: Foram analisadas 96 gestações com os seguintes diagnósticos: plaquetopenia gestacional (n=37, 38,5%, hiperesplenismo (n=32, 33,3%, púrpura trombocitopenica imune (PTI, n=14, 14,6%, plaquetopenia imune secundária (n=6, 6,3%, aplasia medular (n=3, 3,1% e outros (n=4, 4,1%. A cardiotocografia apresentou resultado normal em 94% dos casos, o perfil biofísico fetal com índice 8 ou 10 em 96,9% e o índice de líquido amniótico >5,0 cm em 89,6%. A doplervelocimetria da artéria umbilical apresentou resultado normal em 96,9%. Na análise dos principais grupos de plaquetopenia, constatou-se que o diagnóstico de oligohidrâmnio foi significativamente mais frequente no grupo com PTI (28,6% quando comparado aos demais (gestacional: 5,4% e hiperesplenismo: 9,4%, p=0,04. CONCLUSÕES: O presente estudo permitiu concluir que, nas gestações complicadas pela plaquetopenia materna moderada ou grave, apesar do bem-estar fetal manter-se preservado na grande maioria dos casos, em gestantes com PTI é importante o seguimento da vitalidade fetal com ênfase na avaliação do volume de líquido amniótico, devido à sua associação com a oligohidramnia.PURPOSE: To analyze the results of assessment of fetal well-being in pregnancies complicated by moderate or severe maternal thrombocytopenia. METHODS: Data from April 2001 to July 2011 of 96 women with a diagnosis of thrombocytopenia in pregnancy were

Congenital cystic adenomatoid malformation: case presentation in a two months old infant

International Nuclear Information System (INIS)

Aqrabawi, H.E.; Shabatat, M.; Abbadi, B.M.

2015-01-01

Congenital cystic adenomatoid malformation (CCAM) is a rare abnormality of lung development; it is increasingly detected by the routine ultrasound scan during pregnancy. The severity of the abnormality is very variable. Herein, we present a case of congenital cystic adenomatoid malformation that presented in a two months old infant who had normal initial chest X rays. (author)

Impact of diisobutyl phthalate and other PPAR agonists on steroidogenesis and plasma insulin and leptin levels in fetal rats

International Nuclear Information System (INIS)

Boberg, Julie; Metzdorff, Stine; Wortziger, Rasmus; Axelstad, Marta; Brokken, Leon; Vinggaard, Anne Marie; Dalgaard, Majken; Nellemann, Christine

2008-01-01

Endocrine disrupting chemicals can induce malformations and impairment of reproductive function in experimental animals and may have similar effects in humans. Recently, the environmental obesogen hypothesis was proposed, suggesting that environmental chemicals contribute to the development of obesity and insulin resistance. These effects could be related to chemical interaction with nuclear receptors such as the peroxisome proliferator activated receptors (PPARs). As several testosterone-reducing drugs are PPAR activators, we aimed to examine whether four PPAR agonists were able to affect fetal testosterone production and masculinization of rats. Additionally, we wished to examine whether these chemicals affected fetal plasma levels of insulin and leptin, which play important roles in the developmental programming of the metabolic system. Pregnant Wistar rats were exposed from gestation day (GD) 7-21 to diisobutyl phthalate (DiBP), butylparaben, perfluorooctanoate, or rosiglitazone (600, 100, 20, or 1 mg/kg bw/day, respectively). Endocrine endpoints were studied in offspring at GD 19 or 21. DiBP, butylparaben and rosiglitazone reduced plasma leptin levels in male and female offspring. DiBP and rosiglitazone additionally reduced fetal plasma insulin levels. In males, DiBP reduced anogenital distance, testosterone production and testicular expression of Insl-3 and genes related to steroidogenesis. PPARα mRNA levels were reduced by DiBP at GD 19 in testis and liver. In females, DiBP increased anogenital distance and increased ovarian aromatase mRNA levels. This study reveals new targets for phthalates and parabens in fetal male and female rats and contributes to the increasing concern about adverse effects of human exposure to these compounds

Aortic arch malformations

Energy Technology Data Exchange (ETDEWEB)

Kellenberger, Christian J. [University Children' s Hospital, Department of Diagnostic Imaging, Zuerich (Switzerland)

2010-06-15

Although anomalies of the aortic arch and its branches are relatively uncommon malformations, they are often associated with congenital heart disease. Isolated lesions may be clinically significant when the airways are compromised by a vascular ring. In this article, the development and imaging appearance of the aortic arch system and its various malformations are reviewed. (orig.)

Aortic arch malformations

International Nuclear Information System (INIS)

Kellenberger, Christian J.

2010-01-01

Although anomalies of the aortic arch and its branches are relatively uncommon malformations, they are often associated with congenital heart disease. Isolated lesions may be clinically significant when the airways are compromised by a vascular ring. In this article, the development and imaging appearance of the aortic arch system and its various malformations are reviewed. (orig.)

MRI of the brain: malformations

International Nuclear Information System (INIS)

Treguier, C.; Heautot, J.F.; Gandon, Y.; Carsin, M.; Buhe, T.; Weppe, V.

1990-01-01

Brain malformations include occlusion, diverticula, neuronal migration abnormalities, cystic malformations, and histogenetic disorders in neurocutaneous syndromes. The multiple planes of section, excellent white/gray matter differentiation and accurate delineation of the brain cortex available with magnetic resonance imaging make it a tool of choice for the diagnosis of malformations, as well as for prognosis and genetic counseling [fr

RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.

Science.gov (United States)

Flore, Leigh Anne; Leon, Eyby; Maher, Tom A; Milunsky, Jeff M

2012-06-01

Capillary malformation-arteriovenous malformation (CM-AVM; MIM 60354) is an autosomal dominant disorder characterized by multifocal cutaneous capillary malformations, often in association with fast-flow vascular lesions, which may be cutaneous, subcutaneous, intramuscular, intraosseus, or cerebral arteriovenous malformations or arteriovenous fistulas. CM-AVM results from heterozygous mutations in the RASA1 gene. Capillary malformations of the skin are common, and clinical examination alone may not be able to definitively diagnose-or exclude- CM-AVM. We report a family in which the proband was initially referred for a genetic evaluation in the neonatal period because of the presence of a cardiac murmur and minor dysmorphic features. Both he and his mother were noted to have multiple capillary malformations on the face, head, and extremities. Echocardiography revealed dilated head and neck vessels and magnetic resonance imaging and angiography of the brain revealed a large infratentorial arteriovenous fistula, for which he has had two embolization procedures. RASA1 sequence analysis revealed a heterozygous mutation, confirming his diagnosis of CM-AVM. We established targeted mutation analysis for the proband's mother and sister, the latter of whom is a healthy 3-year-old whose only cutaneous finding is a facial capillary malformation. This revealed that the proband's mother is also heterozygous for the RASA1 mutation, but his sister is negative. Consequently, his mother will undergo magnetic resonance imaging and angiography screening for intracranial and spinal fast-flow lesions, while his sister will require no imaging or serial evaluations. Targeted mutation analysis has been offered to additional maternal family members. This case illustrates the benefit of molecular testing in diagnosis and making screening recommendations for families with CM-AVM.

Genetics Home Reference: Dandy-Walker malformation

Science.gov (United States)

... Twitter Home Health Conditions Dandy-Walker malformation Dandy-Walker malformation Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Dandy-Walker malformation affects brain development, primarily development of the ...

Persistent hyperplastic primary vitreous: congenital malformation of the eye.

Science.gov (United States)

Shastry, Barkur S

2009-12-01

Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous. It is divided into anterior and posterior types and is characterized by the presence of a vascular membrane located behind the lens. The condition can be of an isolated type or can occur with other ocular disorders. Most cases of PHPV are sporadic, but it can be inherited as an autosomal dominant or recessive trait. Inherited PHPV also occurs in several breeds of dogs and cats. In a limited number of cases, Norrie disease and FZD4 genes are found to be mutated in unilateral and bilateral PHPV. These genes when mutated also cause Norrie disease pseudoglioma and familial exudative vitreoretinopathy that share some of the clinical features with PHPV. Mice lacking arf and p53 tumour suppressor genes as well as Norrie disease pseudoglioma and LRP5 genes suggest that these genes are needed for hyaloid vascular regression. These experiments also indicate that abnormalities in normal apoptosis and defects in Wnt signalling pathway may be responsible for the pathogenesis of PHPV. Identification of other candidate genes in the future may provide a better understanding of the pathogenesis of the condition that may lead to a better therapeutic approach and better management.

Pattern of congenital brain malformations at a referral hospital in Saudi Arabia: An MRI study

International Nuclear Information System (INIS)

Alorainy, Ibrahim A.

2006-01-01

More than 2000 different congenital cerebral malformations have been described in the literature, for which several classification systems have been proposed. With the help of these classification systems, it is now possible, with neuroimaging, to time neuroembtyologic events. Magnetic resonance imaging (MRI), in particular, is useful in studying these malformations. This study evaluated the pattern of congenital brain malformations in a university referral hospital setting. The records of all MRI brain examinations at our hospital over a period of 3 years for children younger than 15 years of age were reviewed. Cases of congenital cerebral malformations were analyzed by sex, age at presentation, type of congenital cerebral malformation and other associated congenital cerebral malformations. Of the 808 MR examinations of different parts of the body for children in the study period, 719 (89%), on 581 patients, were of the brain. Eighty-six children (14.8%) were found to have single or multiple congenital brain malformations. In these children, 114 congenital brain malformations were identified, the commonest being cortical migrational defects (25 patients, 22%), neural tube closure defects (22 patients, 19%), and corpus callosum dysgenesis (22 patients 19%). The least common was vascular malformation. Sixteen patients (18.6%) had more than one congenital brain malformations. Neural tube closer defects, cortical migrational abnormalities, and corpus callosum anomalies were the commonest congenital brain malformations, while vascular malformations were the least common. Most of the identified malformations demonstrated the usual pattern, but a few showed unusual patterns and associations. (author)

Cardiac and vascular malformations

International Nuclear Information System (INIS)

Ley, S.; Ley-Zaporozhan, J.

2015-01-01

Malformations of the heart and great vessels show a high degree of variation. There are numerous variants and defects with only few clinical manifestations and are only detected by chance, such as a persistent left superior vena cava or a partial anomalous pulmonary venous connection. Other cardiovascular malformations are manifested directly after birth and need prompt mostly surgical interventions. At this point in time echocardiography is the diagnostic modality of choice for morphological and functional characterization of malformations. Additional imaging using computed tomography (CT) or magnetic resonance imaging (MRI) is only required in a minority of cases. If so, the small anatomical structures, the physiological tachycardia and tachypnea are a challenge for imaging modalities and strategies. This review article presents the most frequent vascular, cardiac and complex cardiovascular malformations independent of the first line diagnostic imaging modality. (orig.) [de

Chiari malformations: diagnosis, treatments and failures.

Science.gov (United States)

Abd-El-Barr, M M; Strong, C I; Groff, M W

2014-12-01

Chiari malformations refer to abnormalities of the hindbrain originally described by the Austrian pathologist Hans Chiari in the early 1890s. These malformations range from herniation of the cerebellar tonsils through the foramen magnum to complete agenesis of the cerebellum. In this review, we review the different classification schemes of Chiari malformations. We discuss the different signs and symptoms that the two most common malformations present with and diagnostic criteria. We next discuss current treatment paradigms, including the new measure of possible in utero surgery to help decrease the incidence of Chiari type II malformations. There is also a small discussion of treatment failures and salvage procedures in these difficult cases. Chiari malformations are a difficult clinical entity to treat. As more is learned about the genetic and environmental factors relating to their characteristics, it will be interesting if we are able to predict which treatments are better suited for different patients. Similarly, with the evolution of in utero techniques especially for Chiari II malformations, it will be interesting to see if the incidence and practice of treating these difficult patients will change.

DI(N-BUTYL) PHTHALATE AND DIETHYLHEXYL PHTHALATE IN COMBINATION ALTER SEXUAL DIFFERENTIATION IN A CUMULATIVE MANNER AS A RESULT OF DEPRESSED FETAL TESTOSTERONE PRODUCTION AND INSL3 GENE EXPRESSION IN MALE RATS

Science.gov (United States)

Plasticizers di(n-butyl) phthalate (DBP) and diehtylhexyl phthalate (DEHP) have similar modes of action: in utero exposure reduces testosterone (T) production in fetal male rats, inhibits reproductive tract differentiation, and induces reproductive organ malformations. In utero e...

Transarterial embolization for hematuria caused by renal arteriovenous malformations or fistulae

International Nuclear Information System (INIS)

Meng Xiaoxi; Liu Shiyuan; Dong Weihua; Dong Sheng; Jia Ningyang; Xiao Xiangsheng

2008-01-01

Objective: To evaluate the efficacy and safety of transarterial embolization for hematuria caused by renal arteriovenous malformation or fistulae. Methods: Seven patients with gross hematuria caused by renal arterial abnormalities were retrospectively reviewed, of which three had congenital renal arteriovenous malformations and the other four had non-neoplastic acquired renal arteriovenous fistulae. All patients were confirmed by renal arterial angiography and undergone embolization with various embolic materials. Results: Embolization was successfully carried out in all cases. Gross hematuria disappeared one to seven days after the procedure. No severe complications were encountered. No recurrence occurred within 12 to 36 months of follow-up. Conclusions: Transarterial embolization is safe and effective for hematuria caused by renal arteriovenous malformations or fistulae. (authors)

Genotoxicity and fetal abnormality in streptozotocin-induced diabetic rats exposed to cigarette smoke prior to and during pregnancy.

Science.gov (United States)

Damasceno, D C; Volpato, G T; Sinzato, Y K; Lima, P H O; Souza, M S S; Iessi, I L; Kiss, A C I; Takaku, M; Rudge, M V C; Calderon, I M P

2011-10-01

Maternal hyperglycemia during early pregnancy is associated with increased risk of abnormalities in the offspring. Malformation rates among the offspring of diabetic mothers are 2-5-fold higher than that of the normal population, and congenital malformations are the major cause of mortality and morbidity in the offspring of diabetic mothers. Metabolic changes, such as hyperglycemia and the metabolites obtained from cigarettes both increase the production of reactive oxygen species (ROS) in the embryo or fetus, causing DNA damage. To evaluate the maternal and fetal genotoxicity, and to assess the incidence of fetal anomaly in diabetic female rats exposed to cigarette smoke at different stages of pregnancy in rats. Diabetes was induced by streptozotocin administration and cigarette smoke exposure was produced by a mechanical smoking device that generated mainstream smoke that was delivered into a chamber. Female Wistar rats were randomly assigned to: non-diabetic (ND) and diabetic (D) groups exposed to filtered air; a diabetic group exposed to cigarette smoke prior to and during pregnancy (DS) and a diabetic group only exposed to cigarette smoke prior to pregnancy (DSPP). On pregnancy day 21, blood samples were obtained for DNA damage analysis and fetuses were collected for congenital anomaly assessment. Statistical significance was set at p<0.05 for all analysis. Exposure of diabetic rats to tobacco smoke prior to pregnancy increased fetal DNA damage, but failed to induce teratogenicity. Thus, these results reinforce the importance for women to avoid exposure to cigarette smoke long before they become pregnant. © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York.

Identifying mild and severe preeclampsia in asymptomatic pregnant women by levels of cell-free fetal DNA

DEFF Research Database (Denmark)

Jakobsen, Tanja Roien; Clausen, Frederik Banch; Rode, Line

2013-01-01

BACKGROUND: The objective was to investigate whether women who develop preeclampsia can be identified in a routine analysis when determining fetal RHD status at 25 weeks' gestation in combination with PAPP-A levels at the first-trimester combined risk assessment for Trisomy 21. STUDY DESIGN......-A was measured at 11 to 14 weeks. Information about pregnancy outcome and complications was obtained from the National Fetal Medicine Database, medical charts, and discharge letters. RESULTS: The odds ratio (OR) of developing severe preeclampsia given a cffDNA level above the 90th percentile compared to cff......DNA below the 90th percentile was 8.1 (95% confidence interval [CI], 2.6-25.5). The OR of developing mild preeclampsia given a cffDNA level below the 5th percentile compared to cffDNA levels above the 5th percentile was 3.6 (95% CI, 1.1-11.7). PAPP-A levels below the 5th percentile were associated with mild...

Congenital Malformations in River Buffalo (Bubalus bubalis

Directory of Open Access Journals (Sweden)

Sara Albarella

2017-02-01

Full Text Available The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species.

Formation and malformation of the enteric nervous system

NARCIS (Netherlands)

J.H.C. Meijers (Johan)

1989-01-01

textabstractTo clarify pathogenetic mechanisms of congenital malformations of the ENS, the formation of the ENS was investigated in chicken and murine embryos. The experimental work was concentrated on several aspects of the interaction between neural crest cells and the enteric microenvironment.

Significant decrease in congenital malformations in newborn infants of an unselected population of diabetic women

DEFF Research Database (Denmark)

Damm, P; Mølsted-Pedersen, L

1989-01-01

In an unselected and consecutive series of 1858 newborn infants of diabetic mothers, born in the Rigshospital, Copenhagen, in the period 1967 to 1986, congenital malformations were studied. The malformation rate in White Classes B to F was remarkably constant from 1967 to 1981, but a significant...... decrease in major congenital malformations was found in the period 1982 to 1986 versus 1977 to 1981 (2.7% vs. 7.4%, p less than 0.05). This decrease was mainly due to a fourfold decline in major congenital malformations in White Classes D and F (p less than 0.01), and consequently a correlation between...... the severity of maternal diabetes and the frequency of congenital malformations was no longer present. In the offspring of a control group of 1715 nondiabetic women, major congenital malformations were found in 1.7% (p greater than 0.05). Seventy-five percent of the diabetic pregnancies were planned...

Congenital Malformations in River Buffalo (Bubalus bubalis)

Science.gov (United States)

Albarella, Sara; Ciotola, Francesca; D’Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo

2017-01-01

malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy) in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia) and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species. PMID:28208595

Categorization of fetal external findings in developmental toxicology studies by the Terminology Committee of the Japanese Teratology Society.

Science.gov (United States)

Izumi, Yuko; Ooshima, Yojiro; Chihara, Kazuhiro; Fujiwara, Michio; Katsumata, Yoshihiro; Shiota, Kohei

2018-05-01

Categorization of fetal external findings in common laboratory animals, intended to make the agreement at Berlin Workshop in 2014 more practical, was proposed by the Terminology Committee of the Japanese Teratology Society at the Workshop in the 55th Japanese Teratology Society Annual Meeting in 2015. In the Workshop, 73 external findings, which had been categorized as "Gray zone" anomalies but not as "Malformation" or "Variation" in the 2014 Berlin Workshop, were discussed and classified as Malformation, "Non-structural abnormality," Variation, and "Not applicable." The proposal was based on the results of a survey conducted in 2014, where 20 facilities (including pharmaceutical, chemical, and pesticide companies and contract laboratories) and 2 selected expert teratologists in Japan were asked for their opinions on the categorization of these findings. Based on the discussion, Japanese Teratology Society members have agreed that 42 out of the 73 findings can be classified as Malformations (38), Non-structural abnormalities (3), Malformations/Non-structural abnormalities (1), and Variations (0), while the remaining 31 findings were recommended to be categorized as Not applicable for fetuses. The details of the classification are shown on the website of the Japanese Teratology Society (http://www.umin.ac.jp/cadb/External.pdf). © 2018 Japanese Teratology Society.

Congenital Auricular Malformations: Description of Anomalies and Syndromes.

Science.gov (United States)

Bartel-Friedrich, Sylva

2015-12-01

Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

NARCIS (Netherlands)

Windpassinger, Christian; Piard, Juliette; Bonnard, Carine; Alfadhel, Majid; Lim, Shuhui; Bisteau, Xavier; Blouin, Stéphane; Ali, Nur'Ain B; Ng, Alvin Yu Jin; Lu, Hao; Tohari, Sumanty; Talib, S Zakiah A; van Hul, Noémi; Caldez, Matias J; Van Maldergem, Lionel; Yigit, Gökhan; Kayserili, Hülya; Youssef, Sameh A; Coppola, Vincenzo; de Bruin, Alain; Tessarollo, Lino; Choi, Hyungwon; Rupp, Verena; Roetzer, Katharina; Roschger, Paul; Klaushofer, Klaus; Altmüller, Janine; Roy, Sudipto; Venkatesh, Byrappa; Ganger, Rudolf; Grill, Franz; Ben Chehida, Farid; Wollnik, Bernd; Altunoglu, Umut; Al Kaissi, Ali; Reversade, Bruno; Kaldis, Philipp

2017-01-01

In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, and exome sequencing, we uncovered bi-allelic

Classification of venous malformations in children and implications for sclerotherapy

Energy Technology Data Exchange (ETDEWEB)

Puig, Stefan [Department of Radiology, University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria); Department of Paediatric Radiology, Hopital Necker-Enfants Malades, Paris (France); Aref, Hussein [Department of Paediatric Radiology, Hopital Necker-Enfants Malades, Paris (France); Department of Radiology, Alexandria Faculty of Medicine, Alexandria (Egypt); Chigot, Valerie; Brunelle, Francis [Department of Paediatric Radiology, Hopital Necker-Enfants Malades, Paris (France); Bonin, Beatrice [Paediatric Maxillofacial Surgery, Trousseau Hospital, Tours (France)

2003-02-01

The purpose of this work is to present a simple and descriptive classification system for venous malformations (VMs) that may serve as a basis for interventional therapy, and to test its usefulness in a sample of consecutively referred paediatric patients. The classification system we developed includes four types: type I, isolated malformation without peripheral drainage; type II, malformation that drains into normal veins; type III, malformation that drains into dilated veins; and type IV, malformation that represents dysplastic venous ectasia. The system was prospectively tested using phlebography in a sample of 43 children and adolescents with VMs who were referred for treatment during a 10-month period. Our hypothesis was that the type of VM would determine whether low-risk sclerotherapy was indicated. Thirteen (30%) patients had a type-I VM, 16 (37%) had a type-II, 9 (21%) had a type-III, and 5 (12%) had a type-IV malformation. In more than 90% of patients with a type-I or type-II lesion, sclerotherapy could be performed without any problems. In one third of patients with a type-III VM, sclerotherapy had to be withheld and one of nine (11%) developed a severe complication after therapy. Of the five patients with type-IV lesions, three (60%) had to be excluded from sclerotherapy. Our initial results indicate that sclerotherapeutic intervention in patients with type-III and type-IV VMs must be carefully considered, while it can be safely performed in low-risk patients with type-I and type-II lesions. (orig.)

Fetal-Maternal Hemorrhage: A Case and Literature Review

Directory of Open Access Journals (Sweden)

Nino Solomonia

2012-11-01

Full Text Available Nearly all pregnancies include an insignificant hemorrhage of fetal blood into the maternal circulation. In some cases, the hemorrhage is large enough to compromise the fetus, resulting in fetal demise, stillbirth, or delivery of a severely anemic infant. Unfortunately, the symptoms of a significant fetal-maternal hemorrhage can be subtle, nonspecific, and difficult to identify at the time of the event. We present the case of a severely anemic newborn who was delivered in our facility with an extensive literature review.

Characteristics and treatment of cavernous malformations

International Nuclear Information System (INIS)

Takagi, Kenji; Ishida, Mitsuaki; Okabe, Hidetoshi; Nozaki, Kazuhiko

2013-01-01

Cavernous malformations are clusters of dilated sinusoidal channels with thin walls devoid of elastin and smooth muscle. They have no intervening brain tissue. They occur both in sporadic and familial forms. The genes responsible for cavernous malformations have been identified. Recent reports show that mutations of these responsible genes are involved not only in familial but also in sporadic forms. Germline and somatic mutations may occur before cavernous malformations develop (two-hit mechanism). Two patterns, with mulberry-like and hematoma-like appearances, are seen intraoperatively, and from histological findings, mulberry-like appearance may change into hematoma-like one by intralesional hemorrhage. Cavernous malformation treatments include open surgery and radiosurgery. Open surgery is usually chosen for the treatment of symptomatic hemorrhagic cavernous malformations because post-radiosurgical annual bleeding risks at the early phase seem to be higher than those of open surgery. If open surgery has a high risk because of lesion location, radiosurgery becomes an effective alternative treatment. Brainstem cavernous malformations have high annual bleeding and re-bleeding incidence, so if the lesion is accessible with low risk, open surgery is recommended. (author)

Cerebral malformations without antenatal diagnosis

Energy Technology Data Exchange (ETDEWEB)

Girard, Nadine J. [Diagnostic Neuroradiology, Hopital Timone, Marseille (France)

2010-06-15

Cerebral malformations are usually described following the different steps in development. Disorders of neurulation (dysraphisms), or diverticulation (holoprosencephalies and posterior fossa cysts), and total commissural agenesis are usually diagnosed in utero. In contrast, disorders of histogenesis (proliferation-differentiation, migration, organization) are usually discovered in infants and children. The principal clinical symptoms that may be a clue to cerebral malformation include congenital hemiparesis, epilepsy and mental or psychomotor retardation. MRI is the imaging method of choice to assess cerebral malformations. (orig.)

Fetal magnetic resonance imaging in prenatal diagnosis of central nervous system abnormalities

International Nuclear Information System (INIS)

Morioka, Takato; Hashiguchi, Kimiaki; Kawamura, Tadao; Mihara, Futoshi; Hikino, Shunji; Nagata, Hideaki; Iwaki, Toru; Sasaki, Tomio

2005-01-01

The diagnostic value of fetal magnetic resonance imaging (MRI), performed in 42 pregnant women whose fetuses had structural abnormalities of the central nervous system identified with transabdominal ultrasonography from 1995 through 2002, was analyzed retrospectively. Half-Fourier acquisition single-shot turbo spin-echo (HASTE) T 2 -weighted imaging clearly delineated the cerebrospinal fluid (CSF) space and the malformed brain and spinal cord and provided valuable information for the diagnosis of structural abnormalities related to the CSF space, such as spina bifida with Chiari type II malformation (7 cases), colpocephaly with agenesis of the corpus callosum (7 cases), holoprosencephaly (6 cases), porencephaly (2 cases), lissencephaly with hydrocephalus (2 cases), and middle fossa arachnoid cyst (1 case). However, some difficulty was encountered in the diagnosis of rare pathologic conditions that were not related to the CSF space, such as epignathus, multiple arteriovenous fistulae, trapped suboccipital meningocele, and Turner syndrome. We conclude that HASTE T 2 -weighted imaging, which provides useful diagnostic images in a reasonable time, is a useful adjunct to ultrasonography to confirm or exclude certain abnormalities related to the CSF space. (author)

[Management of occult malformations at the lateral skull base].

Science.gov (United States)

Bryson, E; Draf, W; Hofmann, E; Bockmühl, U

2005-12-01

Occult malformations of the lateral skull base are rare anomalies, but can cause severe complications such as recurrent meningitis. Therefore, they need to be precisely delineated and sufficient surgical closure is mandatory. Between 1986 and 2004 twenty patients (10 children and 10 adults) with occult malformations at the lateral skull base were treated surgically at the ENT-Department of the Hospital Fulda gAG. Of these 3 Mondini-malformations, 11 defects of the tegmen tympani or the mastoidal roof, 2 dural lesions to the posterior fossa and 4 malformations within the pyramidal apex have been found. Four patients have had multiple anomalies. Routing symptom was in all cases at least one previous meningitis. Radiological diagnostics included high-resolution computed tomography (CT) and magnetic resonance imaging (MRI) as well as CT- or MR-cisternography. Depending on type and localisation of the defect the following surgical algorithm was carried out: The trans-mastoidal approach was used in all cases of Mondini-malformation (including obliteration of the ear), in case of lesions to the posterior fossa as well as partly in anomalies at the tegmen tympani and mastoidal roof, respectively. Defects of the pyramidal apex should be explored via the trans-mastoidal way if the lesion is located caudally to the inner auditory canal (IAC), whereas the trans-temporal approach should be used if the lesion is situated ventral to the IAC and dorso-medially to the internal carotid artery (ICA). The trans-temporal approach was also performed in large defects of the tegmen tympani and mastoidal roof as well as in recurrences. In all cases of recurrent meningitis caused by agents of the upper airway tract the basic principle should be to search for occult skull base malformations radiologically as well as by sodium fluorescein endoscopy as long as the anomaly is detected.

Behavioral effects of congenital ventromedial prefrontal cortex malformation

Directory of Open Access Journals (Sweden)

Boes Aaron D

2011-12-01

Full Text Available Abstract Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testing. A central feature of the behavioral profile is severe antisocial behavior. He is aggressive, manipulative, and callous; features consistent with psychopathy. Other problems include: egocentricity, impulsivity, hyperactivity, lack of empathy, lack of respect for authority, impaired moral judgment, an inability to plan ahead, and poor frustration tolerance. Conclusions The vmPFC has a profound contribution to the development of human prosocial behavior. B.W. demonstrates how a congenital lesion to this cortical region severely disrupts this process.

Screening for congenital heart malformation in child health centres

NARCIS (Netherlands)

R.E. Juttmann (Rikard); J. Hess (Jakob); C.W.N. Looman (Caspar); G.J. van Oortmarssen (Gerrit); P.J. van der Maas (Paul)

1998-01-01

textabstractBACKGROUND: Although screening for congenital heart malformations is part of the child health care programme in several countries, there are very few published evaluations of these activities. This report is concerned with the evaluation of this screening at

CT findings in Arnold-Chiari malformation

Energy Technology Data Exchange (ETDEWEB)

Tanaka, Y.; Nakamura, S. (Aichi Prefecture Colony, Kasugai (Japan). Central Hospital); Yamada, H.; Kageyama, N.

1981-12-01

CT scans of Arnold-Chiari malformations demonstrate many abnormal findings that are considered to be specific for this type of malformation. Fifty patients with Arnold-Chiari malformations were studied, and their CT findings were analyzed. This number included 14 preshunted neonatal cases and 36 post-shunted infantile cases. Craniolacunia was recognized only in the neonatal cases, but other skull changes, including scaphocephaly and petrous scalloping, were found more frequently in the infantile cases. The posterior fossa abnormality was composed of several specific changes, such as a non-visualized fourth ventricle, a lateral or upward growth of the cerebellum, or a beaking deformity of the midbrain. These findings were far more common in the infantile cases. However, in 7 neonatal cases on which CT cisternography was performed, these posterior fossa changes were well recognized in the majority of cases. Hydrocephalus was found in all cases. In half of the post-shunted infantile cases, the lateral ventricles were markedly collapsed. Characteristic features of the lateral ventricles, such as a protruding of the caudate nuclei, a pointing of the frontal and/or occipital horns, an absent septum pellucidum, or dominently dilated occipital horns, were commonly found in both neonatal and infantile cases. The subarachnoid space was remarkably widened at the retrothalamic cistern and/or the interhemispheric fissure in many cases.

Congenital pulmonary arteriovenous malformation: a rare cause of ...

African Journals Online (AJOL)

Pulmonary arteriovenous malformation (PAVM) is a rare condition in which there is abnormal connection between pulmonary arteries and veins. The disorder usually appears in late childhood or early adult life, with dyspnea on exertion, clubbing or cyanosis. We present two patients with severe cyanosis and their work-up ...

Cerebellar arteriovenous malformations in children

International Nuclear Information System (INIS)

Griffiths, P.D.; Humphreys, R.P.

1998-01-01

We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM). This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques. All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the study had MRI. Of the 18 children, 17 presented with a ruptured AVM producing intracranial haemorrhage. The remaining child presented with temporal lobe epilepsy and was shown to have temporal, vermian and cerebellar hemisphere AVM. This child had other stigmata of Osler-Weber-Rendu syndrome. Three other children had pre-existing abnormalities of possible relevance. One had a vascular malformation of the cheek and mandible, one a documented chromosomal abnormality and another a midline cleft upper lip and palate. Six of the 17 children with a ruptured cerebellar AVM died within 7 days of the ictus. Vascular pathology other than an AVM was found in 10 of the 14 children with a ruptured cerebellar AVM who had angiography: 4 intranidal aneurysms, 5 venous aneurysms and 2 cases of venous outflow obstruction (one child having both an aneurysm and obstruction). The severity of clinical presentation was directly related to the size of the acute haematoma, which was a reasonable predictor of outcome. (orig.)

Cerebellar arteriovenous malformations in children

Energy Technology Data Exchange (ETDEWEB)

Griffiths, P.D. [Sheffield Univ. (United Kingdom). Acad. Dept. of Radiol.; Blaser, S.; Armstrong, D.; Chuang, S.; Harwood-Nash, D. [Division of Neuroradiology, The Hospital for Sick Children and University of Toronto, Toronto (Canada); Humphreys, R.P. [Division of Neurosurgery, The Hospital for Sick Children and University of Toronto, Toronto (Canada)

1998-05-01

We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM). This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques. All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the study had MRI. Of the 18 children, 17 presented with a ruptured AVM producing intracranial haemorrhage. The remaining child presented with temporal lobe epilepsy and was shown to have temporal, vermian and cerebellar hemisphere AVM. This child had other stigmata of Osler-Weber-Rendu syndrome. Three other children had pre-existing abnormalities of possible relevance. One had a vascular malformation of the cheek and mandible, one a documented chromosomal abnormality and another a midline cleft upper lip and palate. Six of the 17 children with a ruptured cerebellar AVM died within 7 days of the ictus. Vascular pathology other than an AVM was found in 10 of the 14 children with a ruptured cerebellar AVM who had angiography: 4 intranidal aneurysms, 5 venous aneurysms and 2 cases of venous outflow obstruction (one child having both an aneurysm and obstruction). The severity of clinical presentation was directly related to the size of the acute haematoma, which was a reasonable predictor of outcome. (orig.) With 4 figs., 4 tabs., 23 refs.

A randomised clinical trial of intrapartum fetal monitoring with computer analysis and alerts versus previously available monitoring

Directory of Open Access Journals (Sweden)

Santos Cristina

2010-10-01

Full Text Available Abstract Background Intrapartum fetal hypoxia remains an important cause of death and permanent handicap and in a significant proportion of cases there is evidence of suboptimal care related to fetal surveillance. Cardiotocographic (CTG monitoring remains the basis of intrapartum surveillance, but its interpretation by healthcare professionals lacks reproducibility and the technology has not been shown to improve clinically important outcomes. The addition of fetal electrocardiogram analysis has increased the potential to avoid adverse outcomes, but CTG interpretation remains its main weakness. A program for computerised analysis of intrapartum fetal signals, incorporating real-time alerts for healthcare professionals, has recently been developed. There is a need to determine whether this technology can result in better perinatal outcomes. Methods/design This is a multicentre randomised clinical trial. Inclusion criteria are: women aged ≥ 16 years, able to provide written informed consent, singleton pregnancies ≥ 36 weeks, cephalic presentation, no known major fetal malformations, in labour but excluding active second stage, planned for continuous CTG monitoring, and no known contra-indication for vaginal delivery. Eligible women will be randomised using a computer-generated randomisation sequence to one of the two arms: continuous computer analysis of fetal monitoring signals with real-time alerts (intervention arm or continuous CTG monitoring as previously performed (control arm. Electrocardiographic monitoring and fetal scalp blood sampling will be available in both arms. The primary outcome measure is the incidence of fetal metabolic acidosis (umbilical artery pH ecf > 12 mmol/L. Secondary outcome measures are: caesarean section and instrumental vaginal delivery rates, use of fetal blood sampling, 5-minute Apgar score Discussion This study will provide evidence of the impact of intrapartum monitoring with computer analysis and real

Imaging of the cloacal malformation

International Nuclear Information System (INIS)

Jaramillo, D.; Lebowitz, R.L.; Hendren, W.H.

1989-01-01

Sixty-two newborns with the cloacal malformation were evaluated to define variation in cloacal configuration, associated anomalies, and optimal approach to imaging. Cloacal malformations were classified according to level of urethrovaginal confluence (47 low, 15 high); level of rectal communication (47 vaginal, seven cloacal, eight other); and cloacal appearance (34 urethral, 28 vaginal, 10 transistional). Lower urinary abnormalities included reflux, ureteral ectopia, bladder diverticula, bladder duplication (five), and urachal remnants (five). Uterovaginal abnormalities included duplication and partial agenesis. Anomalies were common in the upper urinary tract, spine (sacral agenesis, 20), and bony pelvis (pubic diastasis, 10). Gastrointestinal, cardiovascular, neurologic, and limb (seven) malformations were seen. Fluoroscopically monitored opacification of the cloacal components and voiding cystourethrogram were essential. Although sonography of the malformation was of limited usefulness, MR imaging seemed to be useful for evaluation of the spinal cord and pelvic musculature

Fetal electrocardiogram (ECG) for fetal monitoring during labour.

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Neilson, James P

2015-12-21

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

Congenital inner ear malformations without sensorineural hearing loss.

Science.gov (United States)

Yukawa, Kumiko; Horiguchi, Satoshi; Suzuki, Mamoru

2008-03-01

It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations [Kokai H, Oohashi M, Ishikawa K, Harada K, Hiratsuka H, Ogasawara M et al. Clinical review of inner ear malformation. J Otolaryngol Jpn 2003;106(10):1038-44; Schuknecht HF. Mondini dysplasia. A clinical pathological study. Ann Otol Rhinol Laryngol 1980;89(Suppl. 65):1-23; Jackler RK, Luxford WM, House WF. Congenital malformations of the inner ear: a classification based on embryogenesis. Laryngoscope 1987;97:2-14; Phelps PD. Congenital lesions of the inner ear, demonstrated by tomography. Arch Otolaryngol 1974;100:11-8]. A 37-year-old woman had combined dysplasia of the posterior and lateral semicircular canals (PSCC, LSCC) with normal cochlear development and normal hearing in both ears. She had complained of dizziness for 8 months. High resolution computed tomography (CT) showed hypogenesis of the bony labyrinth in both ears. Bilateral PSCC and LSCC dysplasia and dilatation of the vestibule were detected. Magnetic resonant imaging (MRI) revealed that the deformity of the PSCC was more severe than the LSCC. Although the caloric test of the left ear elicited no nystagmus and there was reduced response in the right ear, the horizontal vestibulo-occular reflex (VOR) was present. Her dizzy sensation disappeared within 3 months without special treatment. The dizziness attack might have been caused by a temporary breakdown of her peripheral vestibular system.

[THE FETAL MIDDLE CEREBRAL ARTERY PEAK SYSTOLIC VELOCITY AS A PEDICTOR OF FETAL ANEMIA IN RH-ALLOIMMUNIZED PREGNANCY].

Science.gov (United States)

Markov, D; Pavlova, E; Atanassova, D; Diavolov, V; Hitrova, S; Vakrilova, L; Pramatarova, T; Slancheva, B; Ivanov, St

2015-01-01

Rh-isoimmunization is a pathological condition in which the fetal red blood cells of a Rh (+) fetus are destroyed by the isoantibodies of a Rh (-) woman sensitized in a previous event. Despite of the wide spread implementation of anti D-gammaglobolin prophylaxis this is still the most common cause for fetal anemia. Recently, sonographic measurement of the fetal middle cerebral artery peak systolic velocity (MCA-PSV) has been shown to be an accurate non-invasive test to predict low fetal hemoglobin levels. We present a case report of Rh-alloimmunized pregnancy with moderate fetal anemia, followed-up by weekly MCA-PSV measurements. A 37-year-old Rh (-) negative gravida 3, para 1, without anti-D gammaglobolin prophylaxis in her previous pregnancies, presented at 27+0 weeks of gestation (w.g.) for a routine third trimester scan. Subsequent ultrasound measurements of MCA-PSV confirmed a progressive increase of the peak systolic velocities from 40 to 80 cm/sec, as well as a gradual rise in the anti-D titers. The evidence of developing fetal anemia necessitated elective Caesarean section performed at 35 wg. The neonate was admitted in the intensive care unit and required resuscitation, one exchange blood transfusion and several courses of phototherapy. The patient was discharged two weeks post partum. There is a strong correlation between the high peak systolic velocities in the middle cerebral artery (MCA-PSV) and the low levels of fetal hemoglobin. The high sensitivity and positive predictive value concerning the development of fetal anemia, as well as its good repeatability, makes this non-invasive test a valuable asset in the management of all pregnancies complicated by severe Rh-alloimmunization.

Defining and predicting 'intrauterine fetal renal failure' in congenital lower urinary tract obstruction.

Science.gov (United States)

Ruano, Rodrigo; Safdar, Adnan; Au, Jason; Koh, Chester J; Gargollo, Patricio; Shamshirsaz, Alireza A; Espinoza, Jimmy; Cass, Darrell L; Olutoye, Oluyinka O; Olutoye, Olutoyin A; Welty, Stephen; Roth, David R; Belfort, Michael A; Braun, Michael C

2016-04-01

The aim of this study was to identify predictors of 'intrauterine fetal renal failure' in fetuses with severe congenital lower urinary tract obstruction (LUTO). We undertook a retrospective study of 31 consecutive fetuses with a diagnosis of LUTO in a tertiary Fetal Center between April 2013 and April 2015. Predictors of 'intrauterine fetal renal failure' were evaluated in those infants with severe LUTO who had either a primary composite outcome measure of neonatal death in the first 24 h of life due to severe pulmonary hypoplasia or a need for renal replacement therapy within 7 days of life. The following variables were analyzed: fetal bladder re-expansion 48 h after vesicocentesis, fetal renal ultrasound characteristics, fetal urinary indices, and amniotic fluid volume. Of the 31 fetuses included in the study, eight met the criteria for 'intrauterine fetal renal failure'. All of the latter had composite poor postnatal outcomes based on death within 24 h of life (n = 6) or need for dialysis within 1 week of life (n = 2). The percentage of fetal bladder refilling after vesicocentesis at time of initial evaluation was the only predictor of 'intrauterine fetal renal failure' (cut-off <27 %, area under the time-concentration curve 0.86, 95 % confidence interval 0.68-0.99; p = 0.009). We propose the concept of 'intrauterine fetal renal failure' in fetuses with the most severe forms of LUTO. Fetal bladder refilling can be used to reliably predict 'intrauterine fetal renal failure', which is associated with severe pulmonary hypoplasia or the need for dialysis within a few days of life.

A long-Segmental Vascular Malformation in the Small Bowel Presenting With Gastrointestinal Bleeding in a Preschool-Aged Child

International Nuclear Information System (INIS)

Lee, Yeoun Joo; Hwang, Jae-Yeon; Cho, Yong Hoon; Kim, Yong-Woo; Kim, Tae Un; Shin, Dong Hoon

2016-01-01

Gastrointestinal (GI) bleeding in pediatric patients has several causes. Vascular malformation of the small bowel is a rare disease leading to pediatric GI bleeding. To our knowledge, few reports describe ultrasound and computed tomography findings of venous malformations involving the small bowel. We present a case of long-segmental and circumferential vascular malformation that led to GI bleeding in a pre-school aged child, focusing on the radiologic findings. Although vascular malformation including of the GI tract is rare in children, it should be considered when GI bleeding occurs in pediatric patients

CT imaging of cervical spinal vascular malformation

International Nuclear Information System (INIS)

Ueda, Takashi; Iwamoto, Munehisa; Miyamoto, Etsuo; Kuriyama, Tsuyoshi; Hayama, Tsuneto

1982-01-01

The patient had a history of the onset of motor paralysis of the right upper and lower extremities. Eight years later, numbness of the right upper extremity and a severe neck pain developed, and transverse paralysis of the lower extremities appeared in about 10 hours. CT demonstrated the presence of spinal vascular abnormality. Angiography suggested arteriovenous malformation of glomus type. (Chiba, N.)

CT imaging of cervical spinal vascular malformation

Energy Technology Data Exchange (ETDEWEB)

Ueda, Takashi; Iwamoto, Munehisa; Miyamoto, Etsuo; Kuriyama, Tsuyoshi; Hayama, Tsuneto [Wakayama Red Cross Hospital, Wakayama (Japan)

1982-05-01

The patient had a history of the onset of motor paralysis of the right upper and lower extremities. Eight years later, numbness of the right upper extremity and a severe neck pain developed, and transverse paralysis of the lower extremities appeared in about 10 hours. CT demonstrated the presence of spinal vascular abnormality. Angiography suggested arteriovenous malformation of glomus type.

The relationship between some neonatal and maternal factors during pregnancy with the prevalence of congenital malformations in Iran: a systematic review and meta-analysis.

Science.gov (United States)

Daliri, Salman; Safarpour, Hamid; Bazyar, Jafar; Sayehmiri, Kourosh; Karimi, Arezoo; Anvary, Rahman

2018-05-08

Congenital malformations are one of the main causes of death and disability in children. These malformations arise during embryogenesis and fetal development during pregnancy due to exposure to some environmental factors and genetic mutations. Given the high prevalence of congenital malformations in Iran, the current study was conducted to investigate the relationship between some neonatal and maternal factors during pregnancy with the prevalence of congenital malformations in Iran. This was a systematic review and meta-analysis study. All studies conducted in Iran were extracted between 2000 and 2016 during a search in internal and external databases of Medlib, Medline, Pubmed, Web of Science, Google Scholar, Scopus, Magiran, SID, Cochrane, Irandoc, and all articles published. Then, the required data were entered into the Spss16 software (SPSS Inc., Chicago, IL); and the model of fixed and random effects was analyzed in meta-analysis, Cochran, meta-regression using statistical tests. A total of 30 studies with a sample size of 928,311 patients were enrolled. Baby's gender (1-1.55: CI95%) OR: 1.25, preterm delivery (1.71-3.69: CI 95%) OR: 2.51, low birth weight (1.13-2.67: CI95%) OR: 1.74, age older than 35 for the pregnant mother (1.41-6.3: CI 95%) OR: 2.98, multiple births (1.14-3.46: CI 95%) OR: 1.99, mother suffering from chronic diseases (1.68-3.31: CI 95%) OR: 2.36 are significantly related with the risk of congenital malformations. Based on the results the baby's gender, premature birth, low birth weight, mother's age, consanguineous marriages, multiple births, family history of congenital malformations, and the risk of chronic diseases in the mother during pregnancy increase the birth of children with congenital malformations. As a result, control or modification of the above factors implementing a health and education intervention program can reduce the birth of children with congenital malformations.

Genetics Home Reference: cerebral cavernous malformation

Science.gov (United States)

... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke Educational Resources (7 links) Boston Children's Hospital: Cavernous Malformations Disease InfoSearch: Cerebral Cavernous Malformation ...

Editorial brain malformation surveillance in the Zika era

Science.gov (United States)

Trevathan, Edwin

2016-01-01

The current surveillance systems for congenital microcephaly are necessary to monitor the impact of Zika virus (ZIKV) on the developing human brain, as well as the ZIKV prevention efforts. However, these congenital microcephaly surveillance systems are insufficient. Abnormalities of neuronal differentiation, development and migration may occur among infants with normal head circumference who have intrauterine exposure to ZIKV. Therefore, surveillance for congenital microcephaly does not ascertain many of the infants seriously impacted by congenital ZIKV infection. Furthermore, many infants with normal head circumference and with malformations of the brain cortex do not have clinical manifestations of their congenital malformations until several months to many years after birth, when they present with clinical manifestations such as seizures/epilepsy, developmental delays with or without developmental regression, and/or motor impairment. In response to the ZIKV threat, public health surveillance systems must be enhanced to ascertain a wide variety of congenital brain malformations, as well as their clinical manifestations that lead to diagnostic brain imaging. Birth Defects Research (Part A) 106:869–874, 2016. © 2016 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc. PMID:27891785

Impacto das malformações congênitas na mortalidade perinatal e neonatal em uma maternidade-escola do Recife Impact of congenital malformations on perinatal and neonatal mortality in an university maternity hospital in Recife

Directory of Open Access Journals (Sweden)

Melania Maria Ramos de Amorim

2006-05-01

Full Text Available OBJETIVOS: determinar a incidência de malformações congênitas em recém-nascidos assistidos em uma maternidade-escola de Recife e avaliar o impacto destas malformações na mortalidade perinatal e neonatal. MÉTODOS: realizou-se um estudo longitudinal durante os meses de setembro de 2004 a maio de 2005, analisando-se todos os partos assistidos no Instituto Materno Infantil Prof. Fernando Figueira, IMIP. Determinou-se a freqüência e o tipo de malformações congênitas e foram calculados os coeficientes de mortalidade fetal, mortalidade perinatal, mortalidade neonatal precoce e tardia. RESULTADOS: a freqüência de malformações foi de 2,8% (em 4043 nascimentos. O percentual de malformações entre os nativivos foi de 2,7%, e entre os natimortos foi de 6,7%. Dentre as malformações, as mais freqüentes foram as do sistema nervoso central (principalmente hidrocefalia e meningomielocele, as do sistema osteomuscular e as cardiopatias. Não houve associação entre malformações e sexo, porém a freqüência de prematuridade e baixo peso foi maior entre os casos de malformações. Constatou-se, entre os malformados, mortalidade neonatal precoce de 32,7% e tardia de 10,6%. Os casos de malformações representaram 6,7% dos natimortos, 24,2% das mortes neonatais precoces e 25,8% do total de mortes neonatais. CONCLUSÕES: a freqüência de malformações correspondeu a 2,8% dos nascimentos. As malformações representaram a segunda causa mais freqüente de mortes neonatais, depois da prematuridade.OBJECTIVES: to determine the incidence of congenital malformations in newborns in a university maternity hospital in Recife and assess the impact of malformation in perinatal and neonatal mortality. METHODS: a longitudinal study was performed from September 2004 to May 2005 with all deliveries at the Instituto Materno Infantil Prof. Fernando Figueira, IMIP analyzed. The type and incidence of congenital malformations were determined, and fetal mortality

Ovine fetal necrobacillosis

DEFF Research Database (Denmark)

Agerholm, J.S.; Boye, Mette; Aalbæk, B.

2007-01-01

were found in several tissues. Histologically, placental lesions were characterized by locally diffuse infiltration of neutrophils, closely associated with abundant small Gram-negative and FISH-positive rods, thrombosis and necrosis. Lesions in the fetal-maternal interface were multifocal and consisted...

Imaging features of lower limb malformations above the foot.

Science.gov (United States)

Bergère, A; Amzallag-Bellenger, E; Lefebvre, G; Dieux-Coeslier, A; Mezel, A; Herbaux, B; Boutry, N

2015-09-01

Lower limb malformations are generally isolated or sporadic events. However, they are sometimes associated with other anomalies of the bones and/or viscera in patients with constitutional syndromes or disorders of the skeleton. This paper reviews the main imaging features of these abnormalities, which generally exhibit a broad spectrum. This paper focuses on several different bone malformations: proximal focal femoral deficiency, congenital short femur and femoral duplication for the femur, tibial hemimelia (aplasia/hypoplasia of the tibia) and congenital bowing for the tibia, fibular hemimelia (aplasia/hypoplasia) for the fibula, and aplasia, hypoplasia and congenital dislocation for the patella. Copyright © 2015 Éditions françaises de radiologie. Published by Elsevier Masson SAS. All rights reserved.

Treatment of bipolar disorders during pregnancy: maternal and fetal safety and challenges

Science.gov (United States)

Epstein, Richard A; Moore, Katherine M; Bobo, William V

2015-01-01

Treating pregnant women with bipolar disorder is among the most challenging clinical endeavors. Patients and clinicians are faced with difficult choices at every turn, and no approach is without risk. Stopping effective pharmacotherapy during pregnancy exposes the patient and her baby to potential harms related to bipolar relapses and residual mood symptom-related dysfunction. Continuing effective pharmacotherapy during pregnancy may prevent these occurrences for many; however, some of the most effective pharmacotherapies (such as valproate) have been associated with the occurrence of congenital malformations or other adverse neonatal effects in offspring. Very little is known about the reproductive safety profile and clinical effectiveness of atypical antipsychotic drugs when used to treat bipolar disorder during pregnancy. In this paper, we provide a clinically focused review of the available information on potential maternal and fetal risks of untreated or undertreated maternal bipolar disorder during pregnancy, the effectiveness of interventions for bipolar disorder management during pregnancy, and potential obstetric, fetal, and neonatal risks associated with core foundational pharmacotherapies for bipolar disorder. PMID:25565896

Associated malformations among infants with anophthalmia and microphthalmia.

Science.gov (United States)

Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

2012-03-01

Infants with anophthalmia and microphthalmia frequently have other associated congenital anomalies. The reported frequency and types of associated malformations vary among different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with anophthalmia and microphthalmia in a geographically well defined population from 1979 to 2004 of 346,831 consecutive births. Of the 87 infants with anophthalmia and microphthalmia born during this period (prevalence at birth, 2.5 per 10,000), 90% had associated malformations. Infants with associated malformation were divided into recognizable conditions (22 infants [25%] with chromosomal and 15 infants [17%] with nonchromosomal conditions), and nonrecognizable conditions (41 infants [47%] with multiple malformations). Trisomies 13 and 18 were the most frequent chromosomal abnormalities. Amniotic bands sequence, CHARGE syndrome, Meckel-Gruber syndrome, and VACTERL association were most often present in recognizable nonchromosomal conditions. Malformations in the musculoskeletal, cardiovascular, and central nervous systems were the most common other anomalies in infants with multiple malformations and nonrecognizable conditions. The frequency of associated malformations in infants with anophthalmia or microphthalmia emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations-especially musculoskeletal, cardiac, and central nervous system anomalies-may need to be considered in infants with anophthalmia or microphthalmia, and referral of these infants for genetics evaluation and counseling seems warranted. Copyright © 2012 Wiley Periodicals, Inc.

Rare malformation of glans penis: arteriovenous malformation.

Science.gov (United States)

Akin, Y; Sarac, M; Yucel, S

2013-01-01

Pediatric glans penis malformations, especially arteriovenous malformations (AVM), are very rare. Herein, we report two rare cases. A 14-year-old boy attended our outpatient clinic with chief complaints of purple swelling and rapidly growing lesion on the glans penis. The lesion was excised surgically after physical and radiological evaluations. Pathology reported AVM and the patient is being followed up. The second case is a 2-year-old boy who was admitted with a big lesion involving glans penis and genital area that has been present since birth. In physical and radiological evaluations, lesion on the glans penis was pulsatile. Parents of the patient did not want any surgery and patient has been in follow-up. Diagnosis of the vascular lesions on glans penis is very easy by physical and radiological examinations today. Long-term follow-up is very important for AVM. Clinicians must make a careful effort to document new glans lesions in the pediatric population and decrease anxiety in the parents of affected children.

Subdural hematoma from a cavernous malformation.

Science.gov (United States)

Schmitt, Anne J; Mitha, Alim P; Germain, Rasha; Eschbacher, Jennifer; Spetzler, Robert F

2014-01-01

To present a case of a cavernous malformation presenting with a subdural hematoma. A 27-year-old woman was admitted with progressively worsening headache, vomiting, weakness, and word-finding difficulties 1 week after she was discharged from an outside hospital, where she was managed conservatively for a presumed traumatic subdural hematoma. Computed tomography revealed an enlarging subacute left hemispheric subdural hematoma for which she underwent drill craniostomy. Postprocedural magnetic resonance imaging showed a posterior left temporal lobe mass consistent with a cavernous malformation juxtaposed with the subdural hematoma. Craniotomy for resection of the lesion was performed. She had an uncomplicated postoperative course and experienced a good recovery. The signs and symptoms, diagnostic imaging, and intraoperative findings suggest that the subdural hematoma was caused by extralesional hemorrhage of the cavernous malformation, which is a rare finding associated with these malformations. The clinical course, radiologic, and intraoperative findings suggest that the subdural hemorrhage was caused by extralesional hemorrhage of the cavernous malformation. Copyright © 2014 Elsevier Inc. All rights reserved.

Abnormalities in auditory evoked potentials of 75 patients with Arnold-Chiari malformations types I and II

Directory of Open Access Journals (Sweden)

Henriques Filho Paulo Sergio A.

2006-01-01

Full Text Available OBJECTIVE: To evaluate the frequency and degree of severity of abnormalities in the auditory pathways in patients with Chiari malformations type I and II. METHOD: This is a series-of-case descriptive study in which the possible presence of auditory pathways abnormalities in 75 patients (48 children and 27 adults with Chiari malformation types I and II were analyzed by means of auditory evoked potentials evaluation. The analysis was based on the determination of intervals among potentials peak values, absolute latency and amplitude ratio among potentials V and I. RESULTS: Among the 75 patients studied, 27 (36% disclosed Arnold-Chiari malformations type I and 48 (64% showed Arnold-Chiari malformations type II. Fifty-three (71% of these patients showed some degree of auditory evoked potential abnormalities. Tests were normal in the remaining 22 (29% patients. CONCLUSION: Auditory evoked potentials testing can be considered a valuable instrument for diagnosis and evaluation of brain stem functional abnormalities in patients with Arnold-Chiari malformations type I and II. The determination of the presence and degree of severity of these abnormalities can be contributory to the prevention of further handicaps in these patients either through physical therapy or by means of precocious corrective surgical intervention.

Embryo-fetal development toxicity of honokiol microemulsion intravenously administered to pregnant rats.

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Zhang, Qianqian; Ye, Xiangfeng; Wang, Lingzhi; Peng, Bangjie; Zhang, Yingxue; Bao, Jie; Li, Wanfang; Wei, Jinfeng; Wang, Aiping; Jin, Hongtao; Chen, Shizhong

2016-02-01

The aim of this study was to evaluate the embryo-fetal development toxicity of honokiol microemulsion. The drug was intravenously injected to pregnant SD rats at dose levels of 0, 200, 600 and 2000 μg/kg/day from day 6-15 of gestation. All the pregnant animals were observed for body weights and any abnormal changes and subjected to caesarean-section on gestation day (GD) 20; all fetuses obtained from caesarean-section were assessed by external inspection, visceral and skeletal examinations. No treatment-related external alterations as well as visceral and skeletal malformations were observed in honokiol microemulsion groups. There was no significant difference in the body weight gain of the pregnant rats, average number of corpora lutea, and the gravid uterus weight in the honokiol microemulsion groups compared with the vehicle control group. However, at a dose level of 2000 μg/kg/day, there was embryo-fetal developmental toxicity observed, including a decrease in the body length and tail length of fetuses. In conclusion, the no-observed-adverse-effect level (NOAEL) of honokiol microemulsion is 600 μg/kg/day, 75 times above the therapeutic dosage and it has embryo-fetal toxicity at a dose level of 2000 μg/kg/day, which is approximately 250 times above the therapeutic dosage. Copyright © 2015 Elsevier Inc. All rights reserved.

Pattern and outcome of gross congenital malformations at birth ...

African Journals Online (AJOL)

Background: Congenital malformation(s) do occur in newborns and are thought to be often responsible for a significant proportion of perinatal morbidity and mortality worldwide. Objective: This prospective study was designed to determine the pattern and outcome of congenital malformation(s) among newborn deliveries ...

Spine malformation complex in 3 diverse syndromic entities

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Kaissi, Ali Al; van Egmond-Fröhlich, Andreas; Ryabykh, Sergey; Ochirov, Polina; Kenis, Vladimir; Hofstaetter, Jochen G.; Grill, Franz; Ganger, Rudolf; Kircher, Susanne Gerit

2016-01-01

Abstract Rationale: Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity. Patients concerns: Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes. Diagnoses: We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic dysplasia, Larsen syndrome and Morquio syndrome type A (mucopolysaccharidosis type IV A). Interventions: Surgical interventions have been carried out in the Larsen syndrome and Morquio syndrome type A, resepectively. Outcomes: The earliest the diagnosis is, the better the results are. The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. Our current paper is to sensitize paediatricians, physicians and orthopedic surgeons regarding the necessity to detect the aetiological understanding in every child who manifests a constellation of malformation complex. Lesons: Scoliosis and kyphosis/kyphoscoliosis are not a diagnosis in themselves. Such deformities are mostly a symptom complex correlated to dozens of types of syndromic associations. The rate curve progression and the final severity of congenital spine tilting are related to 3 factors: (a) the type of vertebral malformation present, (b) the patient's phenotype, and (c) the diagnosis. PMID:27977582

Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations.

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Noordman, Iris; Duijnhouwer, Anthonie; Kapusta, Livia; Kempers, Marlies; Roeleveld, Nel; Schokking, Michiel; Smeets, Dominique; Freriks, Kim; Timmers, Henri; van Alfen-van der Velden, Janiëlle

2018-06-01

Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations. This prospective study investigated 14 dysmorphic features of TS girls and women using a checklist. Three major phenotypic patterns were recognized (severe phenotype, lymphatic phenotype and skeletal phenotype). Patient data including karyotype and cardio-aortic malformations (bicuspid aortic valve (BAV) and aortic coarctation (COA)) were collected. Associations between the prevalence of dysmorphic features, karyotype and cardio-aortic malformations were analysed using chi 2 -test and odds ratios. A total of 202 patients (84 girls and 118 women) were analysed prospectively. Differences in prevalence of dysmorphic features were found between girls and women. A strong association was found between monosomy 45,X and the phenotypic patterns. Furthermore, an association was found between COA and lymphatic phenotype, but no association was found between karyotype and cardio-aortic malformations. This study uncovered a difference in dysmorphic features between girls and women. Monosomy 45,X is associated with a more severe phenotype, lymphatic phenotype and skeletal phenotype. All patients with TS should be screened for cardio-aortic malformations, because in contrast to previous reports, karyotype and cardio-aortic malformations showed no significant association. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

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

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

2007-01-15

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

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

International Nuclear Information System (INIS)

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

2007-01-01

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

Effects of oxidative stress on hyperglycaemia-induced brain malformations in a diabetes mouse model

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Jin, Ya [Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China (China); Wang, Guang [Division of Histology & Embryology, Key Laboratory for Regenerative Medicine of the Ministry of Education, Medical College, Jinan University, Guangzhou 510632 (China); Han, Sha-Sha; He, Mei-Yao [Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China (China); Cheng, Xin; Ma, Zheng-Lai [Division of Histology & Embryology, Key Laboratory for Regenerative Medicine of the Ministry of Education, Medical College, Jinan University, Guangzhou 510632 (China); Wu, Xia [Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China (China); Yang, Xuesong, E-mail: yang_xuesong@126.com [Division of Histology & Embryology, Key Laboratory for Regenerative Medicine of the Ministry of Education, Medical College, Jinan University, Guangzhou 510632 (China); Liu, Guo-Sheng, E-mail: tlgs@jnu.edu.cn [Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China (China)

2016-09-10

Pregestational diabetes mellitus (PGDM) enhances the risk of fetal neurodevelopmental defects. However, the mechanism of hyperglycaemia-induced neurodevelopmental defects is not fully understood. In this study, several typical neurodevelopmental defects were identified in the streptozotocin-induced diabetes mouse model. The neuron-specific class III beta-tubulin/forkhead box P1-labelled neuronal differentiation was suppressed and glial fibrillary acidic protein-labelled glial cell lineage differentiation was slightly promoted in pregestational diabetes mellitus (PGDM) mice. Various concentrations of glucose did not change the U87 cell viability, but glial cell line-derived neurotrophic factor expression was altered with varying glucose concentrations. Mouse maternal hyperglycaemia significantly increased Tunel{sup +} apoptosis but did not dramatically affect PCNA{sup +} cell proliferation in the process. To determine the cause of increased apoptosis, we determined the SOD activity, the expression of Nrf2 as well as its downstream anti-oxidative factors NQO1 and HO1, and found that all of them significantly increased in PGDM fetal brains compared with controls. However, Nrf2 expression in U87 cells was not significantly changed by different glucose concentrations. In mouse telencephalon, we observed the co-localization of Tuj-1 and Nrf2 expression in neurons, and down-regulating of Nrf2 in SH-SY5Y cells altered the viability of SH-SY5Y cells exposed to high glucose concentrations. Taken together, the data suggest that Nrf2-modulated antioxidant stress plays a crucial role in maternal hyperglycaemia-induced neurodevelopmental defects. - Highlights: • Typical neurodevelopmental defects could be observed in STZ-treated mouse fetuses. • Nrf2 played a crucial role in hyperglycaemia-induced brain malformations. • The effects of hyperglycaemia on neurons and glia cells were not same.

Effects of oxidative stress on hyperglycaemia-induced brain malformations in a diabetes mouse model

International Nuclear Information System (INIS)

Jin, Ya; Wang, Guang; Han, Sha-Sha; He, Mei-Yao; Cheng, Xin; Ma, Zheng-Lai; Wu, Xia; Yang, Xuesong; Liu, Guo-Sheng

2016-01-01

Pregestational diabetes mellitus (PGDM) enhances the risk of fetal neurodevelopmental defects. However, the mechanism of hyperglycaemia-induced neurodevelopmental defects is not fully understood. In this study, several typical neurodevelopmental defects were identified in the streptozotocin-induced diabetes mouse model. The neuron-specific class III beta-tubulin/forkhead box P1-labelled neuronal differentiation was suppressed and glial fibrillary acidic protein-labelled glial cell lineage differentiation was slightly promoted in pregestational diabetes mellitus (PGDM) mice. Various concentrations of glucose did not change the U87 cell viability, but glial cell line-derived neurotrophic factor expression was altered with varying glucose concentrations. Mouse maternal hyperglycaemia significantly increased Tunel"+ apoptosis but did not dramatically affect PCNA"+ cell proliferation in the process. To determine the cause of increased apoptosis, we determined the SOD activity, the expression of Nrf2 as well as its downstream anti-oxidative factors NQO1 and HO1, and found that all of them significantly increased in PGDM fetal brains compared with controls. However, Nrf2 expression in U87 cells was not significantly changed by different glucose concentrations. In mouse telencephalon, we observed the co-localization of Tuj-1 and Nrf2 expression in neurons, and down-regulating of Nrf2 in SH-SY5Y cells altered the viability of SH-SY5Y cells exposed to high glucose concentrations. Taken together, the data suggest that Nrf2-modulated antioxidant stress plays a crucial role in maternal hyperglycaemia-induced neurodevelopmental defects. - Highlights: • Typical neurodevelopmental defects could be observed in STZ-treated mouse fetuses. • Nrf2 played a crucial role in hyperglycaemia-induced brain malformations. • The effects of hyperglycaemia on neurons and glia cells were not same.

Study of placenta of children born with congenital malformations.

Science.gov (United States)

Stoll, Claude; Alembik, Yves; Dott, Béatrice; Roth, Marie-Paule

2003-01-01

The malformations in this study were observed in a series of 279,642 consecutive births of known outcome registered in our Registry of congenital anomalies. For each case, more than 50 factors included in the registration forms were studied. One of the factors studied was the placenta. For each malformed child, a control was chosen. Cases with maternal known factors impairing placenta function, i.e. vasculopathy and diabetes, were excluded. In each category of malformations studied, the malformed children were divided into isolated and non-isolated (multiple malformed) cases. The weight of placenta of isolated cases was not lower than the weight of placenta of the controls. In contrast, the weight of placenta of the cases with non-isolated malformations was lower than the weight of placenta of the controls and of the isolated cases, for all categories of malformations but gastroschisis and omphalocele. The mean weights at birth of the cases with multiple malformations were also lower than those of the controls. The human placenta discounts a principal functional part, the maternal blood in the intervillous space. Congenital malformations may interact with this function.

Intensive care management of patients with severe intracerebral haemorrhage after endovascular treatment of brain arteriovenous malformations

International Nuclear Information System (INIS)

Keller, E.; Yonekawa, Y.; Imhof, H.G.; Tanaka, M.; Valavanis, Anton

2002-01-01

We studied the impact of emergency neurosurgery and intensive care on the outcome for patients with severe intracerebral haemorrhage after endovascular treatment of brain arteriovenous malformations (AVMs). We reviewed the case notes of 18 patients with severe haemorrhage after embolisation of a brain AVM between 1986 and 2001. During this period the treatment changed: before 1993, these patients were not surgically treated, and they died, while after 1994, all patients underwent emergency surgery. We established a standardised protocol for emergency treatment and intensive care in May 1998, and emergency surgery was performed as soon as possible after the onset of symptoms of haemorrhage. Postoperative intensive care was according to a standardised regime. During these 15 years, 24 out of 605 patients undergoing 1066 interventions had a haemorrhage during or after the procedure, of which 18 were severe (3% of patients, 1.7% of interventions). All patients had a severe clinical deficit (mean Glasgow coma scale 4.2); eight had uni- or bilateral mydriasis. From 1989 to April 1998 four (31%) of 13 patients died, one (7.5%) remained in a vegetative state and eight (61.5%) made a good recovery. All five patients treated between 1998 and 2001 had a favourable outcome. The mean time from onset of the symptoms of haemorrhage to reaching the operation room was 129 min between 1989 and 1998 and 24 min between 1998 and 2001. Standardised emergency treatment and intensive care with early resuscitation, minimal radiological exploration before rapid surgery improved the outcome. A short time between the onset of the symptoms of haemorrhage and evacuation of the haematoma may be the most important factor for a favourable outcome. (orig.)

[Performance of prenatal diagnosis and postnatal development of congenital lung malformations].

Science.gov (United States)

Desseauve, D; Dugué-Marechaud, M; Maurin, S; Gatibelza, M-È; Vequeau-Goua, V; Mergy-Laurent, M; Levard, G; Pierre, F

2015-04-01

For many diseases, the comparison of prenatal diagnosis with a histopathological reality is not always possible. Fetal lung pathology, with its high rate of surgery in postnatal, allows this assessment. This study proposes an approach to the reliability of prenatal diagnosis and analysis of the postnatal development of all children in care for congenital pulmonary malformation (CPM). This is a retrospective study of all cases of CPM diagnosed in Poitiers University Hospital from 1995 to 2011. Cases diagnosed prenatally were identified and the diagnostic accuracy was studied by histology when cases had surgery. The postnatal development of prenatally diagnosed cases is described and compared to children who did not receive prenatal diagnosis. Among the 45 cases of CPM supported at the Poitiers University Hospital, 30 had received prenatal diagnosis of isolated CPM. The diagnostic concordance between antenatal ultrasound and the final diagnosis is κ=0.67 (CI95% [0.38 to 0.94]). The sensitivity of ultrasound was 90% (CI95% [55-99.7]) in our series for the diagnosis of CAMP (cystic adenomatoid malformation pulmonary). We found a sonographic disappearance of lesions in 4 children, 1 child in regression, stable lesions in 21 cases. Four children showed an increase in volume of the malformation, with signs of poor tolerance in 3 cases. After birth, children who received a prenatal diagnosis were no more symptomatic than those whose diagnosis was made postnatal: 21 (70%) versus 11 (73%; P=1) respectively. Similarly, they often received prophylactic surgery: 18 (60%) versus 2 (13%) respectively (P<0.01) and less often suffered post-surgery complication: 3 (10%) versus 10 (67%) respectively (P<0.01). The number of children monitored was not significantly different in the two groups. Prenatal diagnosis allows for the precise nature of the lesion in 90% of cases in 2013 and had no impact on symptomatology at birth. When prenatal diagnosis is possible, preventive

Combined Spinal-Epidural Analgesia for Laboring Parturient with Arnold-Chiari Type I Malformation: A Case Report and a Review of the Literature

Directory of Open Access Journals (Sweden)

Clark K. Choi

2013-01-01

Full Text Available Anesthetic management of laboring parturients with Arnold-Chiari type I malformation poses a difficult challenge for the anesthesiologist. The increase in intracranial pressure during uterine contractions, coughing, valsalva maneuvers, and expulsion of the fetus can be detrimental to the mother during the process of labor and delivery. No concrete evidence has implicated high cerebral spinal fluid pressure on maternal and fetal complications. The literature on the use of neuraxial techniques for managing parturients with Arnold-Chiari is extremely scarce. While most anesthesiologists advocate epidural analgesia for management of labor pain and spinal anesthesia for cesarean section, we are the first to report the use of combined spinal-epidural analgesia for managing labor pain in a pregnant woman with Arnold-Chiari type I malformation. Also, we have reviewed the literature and presented information from case reports and case series to support the safe usage of neuraxial techniques in these patients.

[The supportive outcome of periodontal non-surgical therapy to severe chronic periodontitis accompanied with malformed lingual groove in lateral incisor for 6 years: a case report].

Science.gov (United States)

Li, Zheng; Kang, Jun

2011-06-01

To track the initiating and developing process of one case diagnosed as chronic periodontitis accompanied with malformed lingual groove in maxillary lateral incisor and report the long-term prognosis to the periodontal conservative and supportive therapy. The patient was diagnosed with mild chronic periodontitis 6 years ago and accepted routine periodontal scaling and root planning (SRP) plus supportive periodontal therapy (SPT) one time. Two years later the periodontal condition deteriorated by deep pockets in molars and severe bone destruction around the maxillary lateral incisor with malformed lingual groove. After SRP in sites which pocket depth more than 4mm plus root canal therapy and lingual groove plasty of maxillary right lateral incisor, the SPT regularly proceeded at 3rd, 6th and 12th month. At present the whole periodontal tissue was healthy, the bone lesion around maxillary lateral incisor recovered well, the tooth had no mobile, the cosmetic effect andtooth function was in good state, and the patient was very satisfied.

Brain Malformations

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Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, ...

Multislice spiral computed tomography imaging in congenital inner ear malformations.

Science.gov (United States)

Ma, Hui; Han, Ping; Liang, Bo; Tian, Zhi-liang; Lei, Zi-qiao; Kong, Wei-jia; Feng, Gan-sheng

2008-01-01

The purpose of this study is to evaluate the usefulness of multislice spiral computed tomography (CT) in the diagnosis of congenital inner ear malformations. Forty-four patients with sensorineural hearing loss were examined on a Somatom Sensation 16 (Siemens) CT scanner. The 3-dimensional reconstructions and multiplanar reformation (MPR) were performed using the volume-rendering technique (VRT) on the workstation. Of the 44 patients examined for this study, 25 patients were found to be normal and 19 patients (36 ears) were diagnosed with congenital inner ear malformations. Of the malformations, the axial, MPR, and VRT images can all display the site and degree in 33 of the ears. Volume-rendering technique images were superior to the axial images in displaying the malformations in 3 ears with small lateral semicircular canal malformations. The common malformations were Michel deformity (1 ear), common cavity deformity (3 ears), incomplete partition I (3 ears), incomplete partition II (Mondini deformity) (5 ears), vestibular and semicircular canal malformations (14 ears), enlarged vestibular aqueduct (16 ears, 6 of which had other malformations), and internal auditory canal malformation (8 ears, all accompanied by other malformations). Multislice spiral CT allows a comprehensively assessment of various congenital inner ear malformations through high-quality MPR and VRT reconstructions. Volume-rendering technique images can display the site and degree of the malformation 3-dimensionally and intuitionisticly. This is very useful to the cochlear implantation.

Fetal echocardiography

International Nuclear Information System (INIS)

Chaubal, Nitin G.; Chaubal, Jyoti

2009-01-01

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

Clinical-radiological evaluation of sequelae of stereotactic radiosurgery for intracranial arteriovenous malformations

International Nuclear Information System (INIS)

Levy, R.P.; Fabrikant, J.I.; Frankel, K.A.; Phillips, M.H.; Steinberg, G.K.; Marks, M.P.; DeLaPaz, R.L.; Chuang, F.Y.S.

1989-12-01

Stereotactic heavy-charged-particle Bragg peak radiosurgery has been used to treat 322 patients with surgically-inaccessible intracranial vascular malformations. (The clinical results of this method for the treatment of angiographically demonstrable arteriovenous malformations (AVMs) and angiographically occult vascular malformations (AOVMs) of the brain are described in separate reports of this symposium). The great majority of patients have had an uneventful post-treatment course with satisfactory health outcomes. However, several categories of delayed sequelae of stereotactic radiosurgery have been identified, involving the vascular structures essential for the integrity of the brain tissue and the brain parenchyma directly. These categories reflect both reaction to injury and to alterations in regional hemodynamic status, and include vasogenic edema, occlusion of functional vasculature, radiation necrosis, and local or remote effects on cerebral arterial aneurysms. 10 refs., 7 figs., 1 tab

Clinical-radiological evaluation of sequelae of stereotactic radiosurgery for intracranial arteriovenous malformations

Energy Technology Data Exchange (ETDEWEB)

Levy, R.P.; Fabrikant, J.I.; Frankel, K.A.; Phillips, M.H.; Steinberg, G.K.; Marks, M.P.; DeLaPaz, R.L.; Chuang, F.Y.S.

1989-12-01

Stereotactic heavy-charged-particle Bragg peak radiosurgery has been used to treat 322 patients with surgically-inaccessible intracranial vascular malformations. (The clinical results of this method for the treatment of angiographically demonstrable arteriovenous malformations (AVMs) and angiographically occult vascular malformations (AOVMs) of the brain are described in separate reports of this symposium). The great majority of patients have had an uneventful post-treatment course with satisfactory health outcomes. However, several categories of delayed sequelae of stereotactic radiosurgery have been identified, involving the vascular structures essential for the integrity of the brain tissue and the brain parenchyma directly. These categories reflect both reaction to injury and to alterations in regional hemodynamic status, and include vasogenic edema, occlusion of functional vasculature, radiation necrosis, and local or remote effects on cerebral arterial aneurysms. 10 refs., 7 figs., 1 tab.

Imaging of cardiovascular malformations in Williams syndrome

International Nuclear Information System (INIS)

Li Shiguo; Zhao Shihua; Jiang Shiliang; Huang Lianjun; Xu Zhongying; Ling Jian; Zheng Hong; Yan Chaowu; Lu Jinguo

2008-01-01

Objective: To evaluate the imaging methods for cardiovascular malformations in Williams syndrome(WS). Methods: Thirteen cases of WS (7 males and 6 females) aged 10 months to 13 years were involved in this study. All patients underwent chest X-ray radiography, electrocardiography, echocardiography and physical examination. 3 cases underwent electronic beam computed tomography (EBCT), cardiac catheterization and angiography were performed in 8 cases. Results: Twelve patients were referred to our hospital for cardiac murmur and 1 case for cyanosis after birth. 7 patients were found with 'elfin-like' facial features, 6 patients with pulmonary arterial stenosis, 2 cases with patent ductus arteriosus, 2 cases with severe pulmonary hypertension and 1 case with total endocardial cushion defect. Sudden death occurred in 2 patients during and after catheterization, respectively. Conclusions: Conventional angiography is the golden standard for the diagnosis of cardiovascular malformations in WS. Noninvasive methods such as MSCT and MRI should be suggested because of the risk of sudden death in conventional angiography. (authors)

Laser treatment of oral vascular malformations

Science.gov (United States)

Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.

2014-01-01

Oral Vascular Malformations (OVM) are congenital anomalies characterized by morph-structural and/or functional changes of nature in severity and extension. OVM can affect any type of vessels arterial, venous or lymphatic and any capillary or anatomical. They are divided into two categories: low and high flow. In this study were treated 40 patients with OVM with a range size from 2 mm to 44 mm; they were subjected to clinical examination supported by Colour-Doppler Ultrasound instrumental examination and only for doubt cases the Magnetic Resonance Imaging (MRI) was prescribed. Only low flow venous and capillary malformations were treated by GaAlAs laser (Wiser®, Lambda, Brindole,Italy, 980nm) and KTP laser (SmartLite®, DEKA, Florence, Italy, 532nm) with two different techniques: the Transmucosal Thermophotocoagulation (TMT) and the Intralesional Photocoagulation (ILP). These techniques permitted a good control of haemostasis, avoiding bleeding both during surgery and in the postoperative. It is obtained an excellent and good healing respectively in 10% and 60% of cases, a moderate and poor resolution respectively in 22.5% and 7.5% of cases. A clear diagnosis allowed the management of Venous malformations (VM) by laser devices with wavelengths highly absorbed in haemoglobin in safety and efficacy and according to the principles of minimal invasive surgery. The aim of this study was to verify if the laser is effective in the treatment of OVM for the purpose of the clinical findings and the postoperative course. The Authors concluded that the laser can be considered the "gold standard" for treating OVM.

First report of mango malformation disease caused by Fusarium pseudocircinatum in Mexico

Science.gov (United States)

Mango (Mangifera indica L.) malformation disease (MMD) is one of the most important diseases affecting this crop worldwide, causing severe economic loss due to reduction of yield. Subsequent to the first report in India in 1891 (3), MMD has spread worldwide to most mango-growing regions. Several spe...

Fetal magnetic resonance: technique applications and normal fetal anatomy

International Nuclear Information System (INIS)

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

2003-01-01

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

[Embryo-fetal diseases in multiple pregnancies].

Science.gov (United States)

Colla, F; Alba, E; Grio, R

2001-04-01

Embryo-fetal diseases are the consequence of prenatal (progenetic and metagenetic or environmental) and intranatal (of a traumatic, infective, toxic nature) pathological factors. In multiple pregnancies this complex etiopathogenesis also includes an altered didymous embriogenesis. This study aimed to evaluate the pathologies affecting the fetus in multiple pregnancy, a special biological situation leading to the potential onset of severe fetal and neonatal damage. The authors studied 205 patients with multiple pregnancies, including 199 bigeminal, 5 trigeminal and 1 quadrigeminal, admitted to the Department B of the Obstetrics and Gynecological Clinic of Turin University between 1989-1999. Possible embyro-fetal damage was examined using a chronological criterion: namely following the development of the multiple fetuses from the zygotic to the neonatal phase. Pregnancies were biamniotic bichorionic in 54% of cases, biamniotic monochorionic in 45% and monochorionic monoamniotic in 1%. There were a total of 154 (79.38%) premature births out of 194 and neonatal birth weight was always SGA (small for gestational age). 66.84% of newborns were LBW (<2500 g) and 7.14% were VLBW (<1500 g). Fetal mortality (2.29%) was higher than early neonatal mortality (1.53%). Perinatal mortality (3.82%) was three times higher than in all neonates from the same period (1.03%). The severe embryo-fetal and neonatal damage found in multiple pregnancies is a clinical reality that calls for adequate diagnostic and therapeutic measures, and above all specific medical and social prevention to limit maternal pathogenic risks.

Telefetalcare: a first prototype of a wearable fetal electrocardiograph.

Science.gov (United States)

Fanelli, A; Signorini, M G; Ferrario, M; Perego, P; Piccini, L; Andreoni, G; Magenes, G

2011-01-01

Fetal heart rate monitoring is fundamental to infer information about fetal health state during pregnancy. The cardiotocography (CTG) is the most common antepartum monitoring technique. Abdominal ECG recording represents the most valuable alternative to cardiotocography, as it allows passive, non invasive and long term fetal monitoring. Unluckily fetal ECG has low SNR and needs to be extracted from abdominal recordings using ad hoc algorithms. This work describes a prototype of a wearable fetal ECG electrocardiograph. The system has flat band frequency response between 1-60 Hz and guarantees good signal quality. It was tested on pregnant women between the 30(th) and 34(th) gestational week. Several electrodes configurations were tested, in order to identify the best solution. Implementation of a simple algorithm for FECG extraction permitted the reliable detection of maternal and fetal QRS complexes. The system will allow continuative and deep screening of fetal heart rate, introducing the possibility of home fetal monitoring.

Syringomyelia associated with Chiari malformation in children

International Nuclear Information System (INIS)

Sakamoto, Hiroaki; Kitano, Shouhei; Nishikawa, Misao; Yasui, Toshihiro; Fujitani, Ken; Hakuba, Akira; Nakanishi, Naruhiko

1997-01-01

Among 28 patients with myelomeningocele (MMC group), the myelomeningocele in all patients was repaired shortly after birth, and a shunt was implanted for the associated hydrocephalus in 18 patients. MRI of the group of 28 indicated 20 were afflicted with Chiari II malformation, and the remaining 8 by Chiari I malformation. Among 8 patients lacking myelomeningocele (non-MMC group), seven demonstrated a large syrinx at the cervical and cervico-thoracic level; only one had a syrinx extending from the cervical level down to the lumbar level. None of these patients had hydrocephalus. Surgical decompression to improve cerebrospinal fluid (CSF) flow at the major cistern improved neurological signs in 7 patients. MRI indicated 4 patients were afflicted with Chiari I malformation, and the remaining 4 with Chiari II malformation. In the MMC group, the initial development of the syrinx at the lumbar level may be the result of a combination of occlusion of the caudal end of the central canal brought about by repair of the myelomeningocele and CSF flow into the hydromyelic cavity via the patent proximal portion of the central canal. In the non-MMC group, the syringomyelia may be considered an early onset type of syringomyelia associated with adult type Chiari malformation because the location of the syrinx was quite similar to that found in adult type Chiari malformation, and decompressive surgery was quite effective. In the non-MMC group, turbulence of the CSF now at the major cistern caused by the herniated cerebellum plays an important role in the enlargement of the syringomyelia. To offer greater appropriate management of pediatric Chiari malformation accompanied by syringomyelia, the malformation should be classified not by degree of the herniated brain tissue but by its association with neural tube defect (myelomeningocele). (K.H.)

Asma na gestação: efeitos na vitalidade fetal, complicações maternas e perinatais Asthma during pregnancy: effects on fetal well-being, and maternal and perinatal complications

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Renata Franco Pimentel Mendes

2013-04-01

impairment of fetal well-being, as well as the related maternal and perinatal complications. METHODS: A retrospective study with 117 pregnancies complicated by maternal asthma and with no other comorbidities, in the period from January, 2005 to December, 2010. Inclusion criteriawere as follows: singleton pregnancy; pregnantwomen diagnosed with asthma prior to pregnancy; initiation of prenatal care before the 28th week of pregnancy; birth at this institution; newborn weighing over 500 g and gestational age at delivery of 22 weeks or more; absence of fetal malformations or chromosomal abnormalities; absence of maternal comorbidities. Asthma was classified as intermittent, mild persistent, moderate persistent, or severe persistent. The results of fetal biophysical profile and of Doppler velocimetry of the umbilical artery performed 14 days prior to birth were analyzed. RESULTS: Of the total of 117 pregnant women with asthma, 41 (35.0% had intermittent, 33 (28.2% mild persistent, 21 (17.9% moderate persistent, and 22 (18.8% severe persistent asthma. There was no significant difference among the groups as to the type of birth: cesarean section was performed in 65.8% of the cases, maternal corticosteroid therapy was used at the moment of birth in 20.5%, the gestational age at birth averaged 38.6 weeks (SD 1.9 weeks, and birth weight averaged 3,056 g (SD 581 g. The fetal biophysical profile performed during the antepartum period (n = 90, 76.9% showed a normal result (8 or 10 in 99% of the cases. Doppler velocimetry of the umbilical artery was assessed in 23.9% (n = 28 of the pregnant women, and delivered normal results in 100% of the cases. The use of systemic corticosteroid therapy was significantly (p < 0.001 different among the intermittent (4.9%, mild persistent (9.1%, moderate persistent (28.6%, and severe persistent (45.5% groups. Regarding the beginning of birth, there was a higher proportion of elective cesarean section in the groups with moderate persistent asthma (52

PRESENTED AT THE TRIANGLE CONSORTIUM FOR REPRODUCTIVE BIOLOGY MEETING ON 2/11/06: DI(N-BUTYL) PHTHALATE AND DIETHYLHEXYL PHTHALATE IN COMBINATION ALTER SEXUAL DIFFERENTIATION IN A CUMULATIVE MANNER AS A RESULT OF DEPRESSED FETAL TESTOSTERONE PRODUCTION AND INSL3 GENE EXPRESSION IN MALE RATS

Science.gov (United States)

Plasticizers di(n-butyl) phthalate (DBP) and diehtylhexyl phthalate (DEHP) have similar modes of action: in utero exposure reduces testosterone (T) production in fetal male rats, inhibits reproductive tract differentiation, and induces reproductive organ malformations. In utero e...

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

Science.gov (United States)

Maeda, K; Tatsumura, M; Utsu, M

1999-12-01

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

In vivo MRI of the fetal brain.

Science.gov (United States)

Girard, N; Raybaud, C; Dercole, C; Boubli, L; Chau, C; Cahen, S; Potier, A; Gamerre, M

1993-01-01

We report MRI of the brain in 45 fetuses; the findings were confirmed by pathological examination or postnatal neuroradiological studies. MRI necessitates medication to eliminate fetal motion; curare was injected into the umbilical cord, and MRI is therefore limited to cases in which umbilical cord puncture is indicated. T1-weighted images were obtained in axial, sagittal and coronal planes; the last of these were generally as the most useful as regards morphology. We demonstrated cerebral malformations (n = 13), brain haemorrhage (n = 1), a facial angioma (n = 1), a facial mass (n = 1), hydrocephalus (n = 5), unilateral ventricular enlargement (n = 1), atrophy (n = 4), a porencephalic cyst (n = 1) and normal appearances of the brain in 18 cases. Twenty-two of the fetuses were born alive, and the clinical and/or neuroradiological examination confirmed the antenatal findings. The diagnosis was also confirmed in 8 cases in which a neuropathological examination was possible.

Chiari I malformation associated with turner syndrome

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Kamble Jayaprakash Harsha

2017-01-01

Full Text Available Turner syndrome (TS is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation. Interestingly, Chiari I malformation is also associated with Noonan's syndrome, which is a close morphological mimicker of TS, raising the possibility of sharing similar pathogenesis in both conditions.

Human malformations induced by environmental noxae

International Nuclear Information System (INIS)

Hecker, W.C.; Angerpointner, T.A.

1980-01-01

The paper reviews congenital malformations in humans and presents possible causes. 60% of all malformations are a result of environmental and other factors; i.e. not hereditary or caused by a disease of the mother. The teratogenic effects of ionizing radiation, drugs, alcohol, polyvinyl chloride and trichlorophenol are discussed as well as the effect of the mother's working in certain fields, e.g. clinical laboratories or printing offices; in the latter case the teratogenic noxae are still unknown. Efficient research requires centralized storage of all data on children born with malformations and on the mother's health situation during pregnancy, and the legislator is asked to do so while observing the law on data protection. Foundation of a German Institute of Teratology is recommended. In order to intensify research, it is suggested to set up groups or departments for research on malformations in some major paediatric hospitals. (MG) [de

Quantitative analysis of Chiari-like malformation and syringomyelia in the Griffon Bruxellois dog.

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Susan P Knowler

Full Text Available This study aimed to develop a system of quantitative analysis of canine Chiari-like malformation and syringomyelia on variable quality MRI. We made a series of measurements from magnetic resonance DICOM images from Griffon Bruxellois dogs with and without Chiari-like malformation and syringomyelia and identified several significant variables. We found that in the Griffon Bruxellois dog, Chiari-like malformation is characterized by an apparent shortening of the entire cranial base and possibly by increased proximity of the atlas to the occiput. As a compensatory change, there appears to be an increased height of the rostral cranial cavity with lengthening of the dorsal cranial vault and considerable reorganization of the brain parenchyma including ventral deviation of the olfactory bulbs and rostral invagination of the cerebellum under the occipital lobes.

Genetics Home Reference: megalencephaly-capillary malformation syndrome

Science.gov (United States)

... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Megalencephaly Educational Resources (5 links) Boston Children's Hospital: Capillary Malformation Cincinnati Children's Hospital: Capillary Malformations ...

Arteriovenous Malformations

Science.gov (United States)

Arteriovenous malformations (AVMs) are defects in your vascular system. The vascular system includes arteries, veins, and capillaries. Arteries carry blood away from the heart to other organs; veins carry blood back to the heart. Capillaries connect the arteries and veins. An ...

Biomedical Instruments for Fetal and Neonatal Surveillance

International Nuclear Information System (INIS)

Rolfe, P; Scopesi, F; Serra, G

2006-01-01

Specialised instruments have been developed to aid the care of the fetus and the newborn baby. Miniature sensors using optical, electrical, chemical, mechanical and magnetic principles have been produced for capturing key measurands. These include temperature, pressure, flow and dimension, as well as several specific molecules such as glucose, oxygen and carbon dioxide. During pregnancy ultrasound imaging and blood flow techniques provide valuable information concerning fetal abnormalities, fetal growth, fetal breathing and fetal heart rate. Signal processing and pattern recognition can be useful for deriving indicators of fetal distress and clinical status, based on biopotentials as well as ultrasound signals. Fetal pH measurement is a critical requirement during labour and delivery. The intensive care of ill preterm babies involves provision of an optimal thermal environment and respiratory support. Monitoring of blood gas and acid-base status is essential, and this involves both blood sampling for in vitro analysis as well as the use of invasive or non-invasive sensors. For the future it will be vital that the technologies used are subjected to controlled trials to establish benefit or otherwise

Indications for fetal magnetic resonance imaging (MRI); Indikationen zur fetalen Magnetresonanztomographie

Energy Technology Data Exchange (ETDEWEB)

Prayer, D. [Medizinische Universitaet Wien (Austria). Klinik fuer Radiodiagnostik; Brugger, P.C. [Zentrum fuer Anatomie und Zellbiologie der Medizinischen Universitaet Wien (Austria). Arbeitsgruppe Integrative Morphologie; Krampl, E. [Medizinische Universitaet Wien (Austria). Klinik fuer Gynaekologie und Geburtshilfe; Prayer, L. [Diagnosezentrum Urania, Wien (Austria)

2006-02-15

Indications to perform fetal magnetic resonance imaging (MRI) are composed of common ones related to methodological problems of ultrasound (US) assessment (such as for instance hydramnios) and special ones. The latter are related to MR capability of high-resolution soft tissue contrast and an extended field of view that allows visualization of the whole fetus, even in later stages of pregnancy. The most important indications include confirmation of US findings, work-up of malformations with respect to individual prognosis and genetic background, differentiation between acquired conditions and malformations, visualization of pathologies that have to be treated surgically immediately after birth, and morphological changes of the placenta. (orig.) [German] Indikationen zur Durchfuehrung einer fetalen Magnetresonanztomographie (MRT) setzen sich aus allgemeinen Fragestellungen zusammen, die auf methodischen Problemen von Ultraschalluntersuchungen (US) beruhen (wie beispielsweise Anhydramnion), und speziellen, bei denen die MR-Eigenschaften der hochaufloesenden Gewebedifferenzierung und eines Untersuchungsfensters, das eine Abbildung des gesamten Fetus auch im fortgeschrittenen Schwangerschaftsalter erlaubt, ausgenuetzt werden. Im Vordergrund stehen dabei die Absicherung von US-Befunden, die Abklaerung von Fehlbildungen in Hinblick auf individuelle Prognose und Vorliegen eines Syndroms mit genetisch determiniertem Hintergrund, und die Differenzierung erworbener Stoerungen von Fehlbildungen, die Abklaerung von Veraenderungen, die einer unmittelbar postnatalen operativen Therapie beduerfen, und morphologischer Veraenderungen der Plazenta. (orig.)

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

Science.gov (United States)

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

2015-11-01

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

Intracranial arteriovenous malformation. Contralateral steal phenomena

Energy Technology Data Exchange (ETDEWEB)

Batjer, H H; Devous, M D; Seibert, G B; Purdy, P D; Ajmani, A K; Delarosa, M; Bonte, F J [Texas Univ., Dallas, TX (USA). Southwestern Medical Center

1989-05-01

Sixty-two patients with radiographically proven intracranial arteriovenous malformations underwent preoperative regional cerebral blood flow measurement with {sup 133}Xe signal-photon emission computed tomography. Contralateral regions of hypoperfusion were deteceted in all cases. Steal severity was assessed according to the contralateral steal index (ISteal(c)). ISteal(c) was < 0.7 (severe) in 22 (35%), 0.7-0.8 (intermediate) in 18 (29%), and > 0.8 (mild) in 22 (35%). ISteal(c) was more frequently severe or mild in females and more often intermediate in males in males (p < 0.05). Hyperemic complications were encountered more frequently in patients with intermediate ISteal(c) (p = 0.086). An unfavorable outcome was associated with less severe contralateral steal (p = 0.12). A detailed clinical, radiographic, and hemodynamic profile may help to preperatively identify patients at high risk for a poor surgical outcome. (author).

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

Science.gov (United States)

Alvarado, Maria Gabriela; Schwartz, David A

2017-01-01

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

Intrapartum fetal heart rate profiles with and without fetal asphyxia.

Science.gov (United States)

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

1977-04-01

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

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

Science.gov (United States)

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

2016-09-01

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

Spontaneous ileal perforation complicating low anorectal malformation

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TiJesuni Olatunji

2015-01-01

Full Text Available Anorectal malformation is a common anomaly in neonates. Although colorectal perforations have been reported as a complication, ileal perforation is rarely encountered. This is a report of a 2-day-old boy presenting with a low anorectal malformation, complicated with ileal perforation, necessitating laparotomy and ileal repair. Anoplasty was done for the low anomaly. Early presentation and prompt treatment of anorectal malformations is important to prevent such potential life threatening complication.

Congenital malformations of the skull and meninges.

Science.gov (United States)

Kanev, Paul M

2007-02-01

The surgery and management of children who have congenital malformations of the skull and meninges require multidisciplinary care and long-term follow-up by multiple specialists in birth defects. The high definition of three-dimensional CT and MRI allows precise surgery planning of reconstruction and management of associated malformations. The reconstruction of meningoencephaloceles and craniosynostosis are challenging procedures that transform the child's appearance. The embryology, clinical presentation, and surgical management of these malformations are reviewed.

Chylous pleural effusion associated with primary lymphedema and lymphangioma-like malformations

NARCIS (Netherlands)

Bresser, P.; Kromhout, J. G.; Reekers, J. A.; Verhage, T. L.

1993-01-01

We describe a patient with a chylous pleural effusion associated with primary lymphedema of his right leg and abdominal wall. On evaluation a generalized, severe hypoplasia of the lymphatic system turned out to be associated with hyperplastic, lymphangioma-like malformations

Diagnóstico precoce da restrição do crescimento fetal pela estimativa ultra-sonográfica do peso fetal Early diagnosis of intra-uterine growth restriction by ultrasonographic estimation of fetal weight

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Maria Marta Martins

2005-02-01

disease, no history of addictions, gemellarity or malformed fetuses. All mothers performed ultrasonographic exams at the 25th and 27th weeks for estimation of the fetal weight. Results: The exams were able to detect the inadequate development of those fetuses small-for-gestational-age group. The cut-off values for echographic fetal weight were established as 775 grams and 1015 grams for the 25th and 27th weeks, respectively A mathematical model was developed, capable of quantifying the probability of newborns exhibiting insufficient intra-uterine growth, being small-for-gestational-age.

Facial vascular malformations in children

International Nuclear Information System (INIS)

Brunelle, F.O.; Lallemand, D.; Chaumont, P.; Teillac, D.; Manach, Y.

1988-01-01

The authors present their experience with conventional and digital angiography of vascular malformations of the head and neck in children. 22 hemangioendotheliomas, 8 venous angiomas, and 3 arteriovenous fistula were studied. 22 patients were embolised. DSA offers many advantages during the diagnostic as well as during the therapeutic phase of angiography. Embolization appears to have a major role in treatment of such vascular malformations. (orig.)

Fetal cor triatriatum dexter: a report of two cases associated with nuchal edema in early second trimester

DEFF Research Database (Denmark)

Maroun, L.L.; Graem, N.; Skibsted, L.

2008-01-01

Two early-2nd-trimester fetuses were aborted as a result of nuchal edema and suspected severe heart malformation. At autopsy one fetus demonstrated nuchal edema, mild hydronephrosis, and cor triatriatum dexter associated with ventricular septal defect and tubular hypoplasia of the aortic arch....... The other fetus demonstrated severe nuchal edema, and cor triatriatum dexter was the only malformation. Cor triatriatum dexter is a rare cardiac malformation characterized by division of the right atrium into 2 compartments by a usually fenestrated membrane representing remnants of the right valve...

Hind limb malformations in free-living northern leopard frogs (Rana pipiens) from Maine, Minnesota, and Vermont suggest multiple etiologies

Science.gov (United States)

Meteyer, C.U.; Loeffler, I.K.; Fallon, J.F.; Converse, K.A.; Green, E.; Helgen, J.C.; Kersten, S.; Levey, R.; Eaton-Poole, L.; Burkhart, J.G.

2000-01-01

Background Reports of malformed frogs have increased throughout the North American continent in recent years. Most of the observed malformations have involved the hind limbs. The goal of this study was to accurately characterize the hind limb malformations in wild frogs as an important step toward understanding the possible etiologies. Methods During 1997 and 1998, 182 recently metamorphosed northern leopard frogs (Rana pipiens) were collected from Minnesota, Vermont, and Maine. Malformed hind limbs were present in 157 (86%) of these frogs, which underwent necropsy and radiographic evaluation at the National Wildlife Health Center. These malformations are described in detail and classified into four major categories: (1) no limb (amelia); (2) multiple limbs or limb elements (polymelia, polydactyly, polyphalangy); (3) reduced limb segments or elements (phocomelia, ectromelia, ectrodactyly, and brachydactyly; and (4) distally complete but malformed limb (bone rotations, bridging, skin webbing, and micromelia). Results Amelia and reduced segments and/or elements were the most common finding. Frogs with bilateral hind limb malformations were not common, and in only eight of these 22 frogs were the malformations symmetrical. Malformations of a given type tended to occur in frogs collected from the same site, but the types of malformations varied widely among all three states, and between study sites within Minnesota. Conclusions Clustering of malformation type suggests that developmental events may produce a variety of phenotypes depending on the timing, sequence, and severity of the environmental insult. Hind limb malformations in free-living frogs transcend current mechanistic explanations of tetrapod limb development.

Sincipital Encephaloceles: A Study of Associated Brain Malformations

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Shashidhar Vedavyas Achar

2016-01-01

Full Text Available Objective: The aim of this study was to evaluate the associated intracranial malformations in patients with sincipital encephaloceles. Materials and Methods: A hospital-based cross-sectional study was conducted over 8 years from June 2007 to May 2015 on 28 patients. The patients were evaluated by either computed tomography or magnetic resonance imaging whichever was feasible. Encephaloceles were described with respect to their types, contents, and extensions. A note was made on the associated malformations with sincipital encephaloceles. Results: Fifty percent of the patients presented before the age of 3 years and both the sexes were affected equally. Nasofrontal encephalocele was the most common type seen in 13 patients (46.4%, and corpus callosal agenesis (12 patients was the most common associated malformation. Other malformations noted were arachnoid cyst (10 patients, hydrocephalus (7 patients, and agyria-pachygyria complex (2 patients. Conclusion: Capital Brain malformations are frequently encountered in children with sincipital encephaloceles. Detail radiological evaluation is necessary to plan treatment and also to prognosticate such rare malformations.

The effect of fetal sex on customized fetal growth charts.

Science.gov (United States)

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

2016-12-01

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

EVERREST prospective study: a 6-year prospective study to define the clinical and biological characteristics of pregnancies affected by severe early onset fetal growth restriction.

Science.gov (United States)

Spencer, Rebecca; Ambler, Gareth; Brodszki, Jana; Diemert, Anke; Figueras, Francesc; Gratacós, Eduard; Hansson, Stefan R; Hecher, Kurt; Huertas-Ceballos, Angela; Marlow, Neil; Marsál, Karel; Morsing, Eva; Peebles, Donald; Rossi, Carlo; Sebire, Neil J; Timms, John F; David, Anna L

2017-01-23

Fetal growth restriction (FGR) is a serious obstetric condition for which there is currently no treatment. The EVERREST Prospective Study has been designed to characterise the natural history of pregnancies affected by severe early onset FGR and establish a well phenotyped bio-bank. The findings will provide up-to-date information for clinicians and patients and inform the design and conduct of the EVERREST Clinical Trial: a phase I/IIa trial to assess the safety and efficacy of maternal vascular endothelial growth factor (VEGF) gene therapy in severe early onset FGR. Data and samples from the EVERREST Prospective Study will be used to identify ultrasound and/or biochemical markers of prognosis in pregnancies with an estimated fetal weight (EFW) economic impact; psychological impact; neonatal condition, progress and complications; and infant growth and neurodevelopment to 2 years of corrected age in surviving infants. Standardised longitudinal ultrasound measurements are performed, including: fetal biometry; uterine artery, umbilical artery, middle cerebral artery, and ductus venosus Doppler velocimetry; and uterine artery and umbilical vein volume blood flow. Samples of maternal blood and urine, amniotic fluid (if amniocentesis performed), placenta, umbilical cord blood, and placental bed (if caesarean delivery performed) are collected for bio-banking. An initial analysis of maternal blood samples at enrolment is planned to identify biochemical markers that are predictors for fetal or neonatal death. The findings of the EVERREST Prospective Study will support the development of a novel therapy for severe early onset FGR by describing in detail the natural history of the disease and by identifying women whose pregnancies have the poorest outcomes, in whom a therapy might be most advantageous. The findings will also enable better counselling of couples with affected pregnancies, and provide a valuable resource for future research into the causes of FGR. NCT02097667

Angiographic findings of congenital vascular malformation in soft tissue

International Nuclear Information System (INIS)

Choi, Dae Seob; Park, Jae Hyung; Han, Joon Koo; Chung, Jin Wook; Moon, Woo Kyung; Han, Man Chung

1994-01-01

We evaluated the clinical, plain radiographic, and angiographic findings of congenital vascular malformation of the soft tissue. Retrospective analysis was performed in 36 patients. Pathological diagnosis was done in 25 patients by surgery and the others were clinically and angiographically diagnosed. On the basis of angiographic findings, we classified the lesions to three groups as arteriovenous malformation (AVM), hemangioma, and venous malformation. In pathologically proven 25 cases, we compared the angiographic diagnosis with the pathologic diagnosis. By angiographic classification, AVM was 13 cases, hemangioma 16 cases, and venous malformation 7 cases. The locations of the lesions were upper extremities in 14 cases, lower extremities in 20 cases, both extremities in 1 case, and back in 1 case. Clinical findings were bruit and thrill in 13 cases(12 AVMs,1 hemangioma) and varicosities in 16 cases(11 AVMs, 3 hemangiomas and 2 venous malformations). The varicosities in AVM were pulsating nature, but not in hemangioma and venous malformation. The concordance rate of the angiographic and pathologic diagnosis was 100%(6/6) in AVM, 71%(10/14) in hemangioma and 60% (3/5) in venous malformation. We think that angiography is an essential study for accurate diagnosis and appropriate treatment of congenital vascular malformation

MR imaging of anorectal malformations and associated anomalies

International Nuclear Information System (INIS)

Nievelstein, R.A.J.; Valk, J.; Vos, A.

1998-01-01

Congenital anorectal malformations are found in many forms, and are frequently associated with other anomalies, especially of the spinal cord, spine, and urogenital system. Decisions concerning initial management of children with anorectal malformations can be made only after accurate determination of (a) the level and type of malformation, (b) the type of fistula, (c) the developmental state of the sphincter muscle complex, and (d) the presence of associated anomalies. Magnetic resonance imaging has proven to be the only modality to answer all these crucial questions, and has contributed to a better insight in the morphology and pathogenesis of such complex congenital malformations. (orig.)

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

Science.gov (United States)

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

2001-05-01

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

Transcatheter arterial embolization for congenital renal arteriovenous malformation

International Nuclear Information System (INIS)

Zhou Jun; Hu Tingyang; Yuan Jianhua; Yu Wenqiang

2008-01-01

Objective: To evaluate the effectiveness of transcatheter arterial embolization for congenital renal arteriovenous malformation. Methods: Seven cases of congenital renal arteriovenous malformation causing gross hematuria were retrospectively studied. All of 7 cases were demonstrated by means of angiography and then the catheter was placed superselectively into the involved arterial end of the malformation undertaking embolization with gelfoam, dehydrated ethanol, coils, etc. Results: All the malformations of the 7 cases were successfully embolized with stoppage of gross hematuria within 24 hours. No serious complications occurred except lumbago, fever, gastrointestinal reaction for one week. There was no recurrence of haematuria and the renal function was also normal in all cases during the follow-up for 36 to 98 months. Conclusions: Transcatheter renal arterial angiography and embolization are the important and effective management for the diagnosis and treatment of congenital renal arteriovenous malformation. (authors)

Methods of fetal MR: beyond T2-weighted imaging

International Nuclear Information System (INIS)

Brugger, Peter C.; Stuhr, Fritz; Lindner, Christian; Prayer, Daniela

2006-01-01

The present work reviews the basic methods of performing fetal magnetic resonance imaging (MRI). Since fetal MRI differs in many respects from a postnatal study, several factors have to be taken into account to achieve satisfying image quality. Image quality depends on adequate positioning of the pregnant woman in the magnet, use of appropriate coils and the selection of sequences. Ultrafast T2-weighted sequences are regarded as the mainstay of fetal MR-imaging. However, additional sequences, such as T1-weighted images, diffusion-weighted images, echoplanar imaging may provide further information, especially in extra- central-nervous system regions of the fetal body

Methods of fetal MR: beyond T2-weighted imaging

Energy Technology Data Exchange (ETDEWEB)

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

2006-02-15

The present work reviews the basic methods of performing fetal magnetic resonance imaging (MRI). Since fetal MRI differs in many respects from a postnatal study, several factors have to be taken into account to achieve satisfying image quality. Image quality depends on adequate positioning of the pregnant woman in the magnet, use of appropriate coils and the selection of sequences. Ultrafast T2-weighted sequences are regarded as the mainstay of fetal MR-imaging. However, additional sequences, such as T1-weighted images, diffusion-weighted images, echoplanar imaging may provide further information, especially in extra- central-nervous system regions of the fetal body.

Accelerated fetal growth in early pregnancy and risk of severe large-for-gestational-age and macrosomic infant: a cohort study in a low-risk population.

Science.gov (United States)

Simic, Marija; Wikström, Anna-Karin; Stephansson, Olof

2017-10-01

Our objective was to examine the association between fetal growth in early pregnancy and risk of severe large-for-gestational-age (LGA) and macrosomia at birth in a low-risk population. Cohort study that included 68 771 women with non-anomalous singleton pregnancies, without history of diabetes or hypertension, based on an electronic database on pregnancies and deliveries in Stockholm-Gotland Region, Sweden, 2008-2014. We performed multivariable logistic regression to estimate the association between accelerated fetal growth occurring in the first through early second trimester as measured by ultrasound and LGA and macrosomia at birth. Restricted analyses were performed in the groups without gestational diabetes and with normal body mass index (18.5-24.9 kg/m 2 ). When adjusting for confounders, the odds of having a severely LGA or macrosomic infant were elevated in mothers with fetuses that were at least 7 days larger than expected as compared with mothers without age discrepancy at the second-trimester scan (adjusted odds ratio 1.80; 95% CI 1.23-2.64 and adjusted odds ratio 2.15; 95% CI 1.55-2.98, respectively). Additionally, mothers without gestational diabetes and mothers with normal weight had an elevated risk of having a severely LGA or macrosomic infant when the age discrepancy by second-trimester ultrasound was at least 7 days. In a low-risk population, ultrasound-estimated accelerated fetal growth in early pregnancy was associated with an increased risk of having a severely LGA or macrosomic infant. © 2017 Nordic Federation of Societies of Obstetrics and Gynecology.

Maternal smoking in pregnancy and risk for congenital malformations

DEFF Research Database (Denmark)

Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K.

2014-01-01

and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. METHODS: Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized.......e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95......% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid...

Is fetal manipulation during shoulder dystocia management associated with severe maternal and neonatal morbidities?

Science.gov (United States)

Gachon, Bertrand; Desseauve, David; Fritel, Xavier; Pierre, Fabrice

2016-09-01

There is a lack of data regarding maternal morbidity and neonatal hypoxia associated with shoulder dystocia (SD), particularly with respect to whether SD is managed with our without fetal manipulation (FM). Our main objective was to compare severe maternal and neonatal morbidities associated with SD according to FM execution. We conducted a retrospective study based on a medical record analysis that included all SD cases from 2007 to 2012. SD was considered when additional maneuvers were required to complete a delivery. Severe maternal morbidity was defined as the occurrence of an obstetric anal sphincter injury. Severe neonatal morbidity was defined as the occurrence of one of these complications: permanent brachial plexus palsy, arterial cord pH < 7.1, Apgar score < 7 at 5 min. We compared severe maternal and neonatal morbidities in the FM and the no-FM group. We report an SD incidence of 2.4 % (n = 227) with 93.8 % of patients treated without FM. We identified two cases of permanent brachial plexus palsy, fifteen cases of arterial cord pH < 7.1 and six cases with an Apgar score < 7 at 5 min; all of them were from the no-FM group. There were more cases of OASI in the FM group (odd ratio = 9.2 [1.32-50.71]). No statistical differences between these groups were observed with respect to severe neonatal morbidity. Severe neonatal morbidity does not appear to be associated with FM during SD management, but severe maternal morbidity is associated with FM execution.

Update on neuroimaging phenotypes of mid-hindbrain malformations

Energy Technology Data Exchange (ETDEWEB)

Jissendi-Tchofo, Patrice [University Hospital of Lille (CHRU), Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, Lille-Cedex (France); CHU Saint-Pierre, Radiology Department, Pediatric Neuroradiology Section, Brussels (Belgium); Severino, Mariasavina [Istituto Giannina Gaslini, Neuroradiology Unit, Genoa (Italy); Nguema-Edzang, Beatrice; Toure, Cisse; Soto Ares, Gustavo [University Hospital of Lille (CHRU), Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, Lille-Cedex (France); Barkovich, Anthony James [University of California, Neuroradiology Section, Department of Radiology and Biomedical Imaging, San Francisco, CA (United States)

2014-10-23

Neuroimaging techniques including structural magnetic resonance imaging (MRI) and functional positron emission tomography (PET) are useful in categorizing various midbrain-hindbrain (MHB) malformations, both in allowing diagnosis and in helping to understand the developmental processes that were disturbed. Brain imaging phenotypes of numerous malformations are characteristic features that help in guiding the genetic testing in case of direct neuroimaging-genotype correlation or, at least, to differentiate among MHB malformations entities. The present review aims to provide the reader with an update of the use of neuroimaging applications in the fine analysis of MHB malformations, using a comprehensive, recently proposed developmental and genetic classification. We have performed an extensive systematic review of the literature, from the embryology main steps of MHB development through the malformations entities, with regard to their molecular and genetic basis, conventional MRI features, and other neuroimaging characteristics. We discuss disorders in which imaging features are distinctive and how these features reflect the structural and functional impairment of the brain. Recognition of specific MRI phenotypes, including advanced imaging features, is useful to recognize the MHB malformation entities, to suggest genetic investigations, and, eventually, to monitor the disease outcome after supportive therapies. (orig.)

The incidence of Arnold–Chiari malformation in neurological practice

Directory of Open Access Journals (Sweden)

E. A. Kantimirova

2015-01-01

Full Text Available Arnold-Chiari malformation (ACM is a group of congenital hindbrain malformations affecting the structural relationships between the cerebellum, brain stem, top cervical spinal cord, and bones of the skull base. In clinical practice, ACM types 0 and 1 are more common and types 2, 3, and 4 belong to rare severe (often fatal congenital malformations.Objective: to study gender differences in the incidence of ACM types 0 and 1 in outpatient neurological practice.Patients and methods. A total 2039 case records of outpatients who had visited a neurologist of the Krasnoyarsk University clinic in 2008–2014 were analyzed. Neurological and neuroradiological (1.5 Tesla brain magnetic resonance imaging, phase-contrast spinal cerebral fluid flow imaging diagnostic techniques were used. 3.4% (70/2039 of cases were randomized according to the criteria of inclusion and exception. An entire sample included 70 ACM patients (median age, 25 [17; 34] years (30 (42.8–7.1% men and 40 (57.2–7.1% women.Results. There was an increase in the incidence of ACM type 1 in the women than in the men. Conclusion. It is necessary to develop a new strategy for the prophylactic medical examination of patients with ACM to improve primary and specialized outpatient health care.

Congenital malformations of the external and middle ear

International Nuclear Information System (INIS)

Koesling, S.; Omenzetter, M.; Bartel-Friedrich, S.

2009-01-01

With the focus on imaging, this paper gives a summarized view of the present knowledge on fields, which are necessary to know for a profound understanding of congenital malformations of the external and middle ear. Typical and less typical combinations of malformed parts of the ear can be derived from the embryogenesis. Clinical signs and audiometric findings lead to diagnosis in congenital aural atresia. Isolated middle ear malformations can be clinically mixed up especially with otosclerosis and tympanosclerosis. Imaging is needed for exact morphological information. In malformations of the external and middle ear, CT is the imaging modality of choice. Requirements on CT-technique as well as radiological findings including classification and pre-surgical rating are described. Morphological CT-correlates of congenital malformations and their differential diagnoses are enlisted and illustrated. The impact of CT-results on therapy is explained and actual therapeutic concepts are briefly presented

Fetal MRI: An approach to practice: A review

Directory of Open Access Journals (Sweden)

Sahar N. Saleem

2014-09-01

Full Text Available MRI has been increasingly used for detailed visualization of the fetus in utero as well as pregnancy structures. Yet, the familiarity of radiologists and clinicians with fetal MRI is still limited. This article provides a practical approach to fetal MR imaging. Fetal MRI is an interactive scanning of the moving fetus owed to the use of fast sequences. Single-shot fast spin-echo (SSFSE T2-weighted imaging is a standard sequence. T1-weighted sequences are primarily used to demonstrate fat, calcification and hemorrhage. Balanced steady-state free-precession (SSFP, are beneficial in demonstrating fetal structures as the heart and vessels. Diffusion weighted imaging (DWI, MR spectroscopy (MRS, and diffusion tensor imaging (DTI have potential applications in fetal imaging. Knowing the developing fetal MR anatomy is essential to detect abnormalities. MR evaluation of the developing fetal brain should include recognition of the multilayered-appearance of the cerebral parenchyma, knowledge of the timing of sulci appearance, myelination and changes in ventricular size. With advanced gestation, fetal organs as lungs and kidneys show significant changes in volume and T2-signal. Through a systematic approach, the normal anatomy of the developing fetus is shown to contrast with a wide spectrum of fetal disorders. The abnormalities displayed are graded in severity from simple common lesions to more complex rare cases. Complete fetal MRI is fulfilled by careful evaluation of the placenta, umbilical cord and amniotic cavity. Accurate interpretation of fetal MRI can provide valuable information that helps prenatal counseling, facilitate management decisions, guide therapy, and support research studies.

Clinical review of inner ear malformation

International Nuclear Information System (INIS)

Kokai, Hiromi; Oohashi, Masami; Ishikawa, Kazuo; Harada, Kouji; Hiratsuka, Hitoshi; Ogasawara, Makoto; Miyashita, Souji; Terayama, Yoshihiko

2003-01-01

We had 126 patients with inner ear malformation diagnosed with temporal bone computed tomography (CT) scans at Azabu Triology Hospital between 1996 and 2002. We classified cases of inner ear malformation according to Jackler et al. The incidence of inner ear malformation in our series was as follows; labyrinthine anomalies 61% (isolated lateral semicircular canal dysplasia 56%, compound semicircular canal dysplasia 4%, semicircular canal aplasia 1%), cochlear anomalies 24%, enlargement of the vestibular aqueduct 12%, narrow internal auditory canal 2%, complete labyrinthine aplasia 1%, enlargement of the cochlear aqueduct 0%. The most frequent anomaly was isolated lateral semicircular canal dysplasia. We did not detect any significant clinical features in this anomaly. There were 2 patients with cochlear anomalies who had past histories of meningitis. Some patients with enlargement of the vestibular aqueduct had frequent attacks of fluctuating hearing. Clinically it is important to detect patients with inner ear malformation such as cochlear anomalies and enlargement of the vestibular aqueduct usually accompanied by congenital sensorineural hearing loss. For patients with congenital sensorineural hearing loss, we recommend temporal bone CT scan. (author)

Congenital Vascular Malformation

Science.gov (United States)

... also be effective for small, localized birthmarks (port wine stains). Patients with a rare venous malformation (Kleppel–Trenaunay Syndrome) of the limbs, frequently benefit from elastic garments and bandages used for com- ...

Interventional treatment of pulmonary arteriovenous malformations

DEFF Research Database (Denmark)

Andersen, Poul Erik; Kjeldsen, Anette Drøhse

2010-01-01

Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high...... risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT) (Mb. Osler-Weber-Rendu syndrome). Nowadays, the generally accepted treatment strategy of first choice is embolization of the afferent arteries...... the functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenation of the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT....

Fetal Cardiac Doppler Signal Processing Techniques: Challenges and Future Research Directions

Directory of Open Access Journals (Sweden)

Saeed Abdulrahman Alnuaimi

2017-12-01

Full Text Available The fetal Doppler Ultrasound (DUS is commonly used for monitoring fetal heart rate and can also be used for identifying the event timings of fetal cardiac valve motions. In early-stage fetuses, the detected Doppler signal suffers from noise and signal loss due to the fetal movements and changing fetal location during the measurement procedure. The fetal cardiac intervals, which can be estimated by measuring the fetal cardiac event timings, are the most important markers of fetal development and well-being. To advance DUS-based fetal monitoring methods, several powerful and well-advanced signal processing and machine learning methods have recently been developed. This review provides an overview of the existing techniques used in fetal cardiac activity monitoring and a comprehensive survey on fetal cardiac Doppler signal processing frameworks. The review is structured with a focus on their shortcomings and advantages, which helps in understanding fetal Doppler cardiogram signal processing methods and the related Doppler signal analysis procedures by providing valuable clinical information. Finally, a set of recommendations are suggested for future research directions and the use of fetal cardiac Doppler signal analysis, processing, and modeling to address the underlying challenges.

Eye malformations in Cameroonian children: a clinical survey

Directory of Open Access Journals (Sweden)

Eballé AO

2012-10-01

Full Text Available André Omgbwa Eballé,1,2 Augustin Ellong,3 Godefroy Koki,3 Ngoune Chantal Nanfack,3 Viola Andin Dohvoma,3 Côme Ebana Mvogo2,31Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital, Yaoundé, Cameroon; 2Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Cameroon; 3Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, CameroonSummary: The aim of this work was to describe the clinical aspects of eye malformations observed at the ophthalmology unit of the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital.Patients and methods: We carried out a retrospective study of all malformations of the eye and its adnexae observed among children aged 0–5 years who were seen at the ophthalmology unit from January 2003 to December 2009.Results: Out of the 2254 children who were examined, 150 (6.65% presented eye malformations. The mean age was 14.40 ± 4 months. Eye malformations were diagnosed in 71.66% of cases during the first year of life. The most frequent malformations were congenital lacrimal duct obstruction (66.66%, congenital cataract (10.9%, congenital glaucoma (10.9%, microphthalmos (5.03%, and congenital ptosis (3.77%.Conclusion: Eye malformations among children can lead to visual impairment and are a cause for discomfort to children and parents. Therefore, systematic postnatal screening is recommended to enable early management.Keywords: malformations, ophthalmology, child, Cameroon

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

Science.gov (United States)

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

2016-08-01

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

Fetal cardiac assessment

International Nuclear Information System (INIS)

Greene, K.R.

1983-01-01

The better understanding of fetal cardiovascular physiology coupled with improved technology for non-invasive study of the fetus now enable much more detailed assessment of fetal cardiac status than by heart rate alone. Even the latter, relatively simple, measurement contains much more information than was previously realized. It is also increasingly clear that no single measurement will provide the answer to all clinical dilemmas either on cardiac function or the welfare of the fetus as a whole. There are obvious clinical advantages in measuring several variables from one signal and the measurement of heart rate, heart rate variation and waveform from the ECG in labour is a potentially useful combination. Systolic time intervals or flow measurements could easily be added or used separately by combining real-time and Doppler ultrasound probes

Impact of Oxidative Stress in Fetal Programming

OpenAIRE

Thompson, Loren P.; Al-Hasan, Yazan

2012-01-01

Intrauterine stress induces increased risk of adult disease through fetal programming mechanisms. Oxidative stress can be generated by several conditions, such as, prenatal hypoxia, maternal under- and overnutrition, and excessive glucocorticoid exposure. The role of oxidant molecules as signaling factors in fetal programming via epigenetic mechanisms is discussed. By linking oxidative stress with dysregulation of specific target genes, we may be able to develop therapeutic strategies that pr...

Incidence of and risk factors for severe maternal complications associated with hypertensive disorders after 36 weeks' gestation in uncomplicated twin pregnancies: A prospective cohort study.

Science.gov (United States)

Yamamoto, Ryo; Ishii, Keisuke; Muto, Haruka; Ota, Shiyo; Kawaguchi, Haruna; Hayashi, Shusaku; Mitsuda, Nobuaki

2018-04-19

To elucidate the incidence of and risk factors for severe hypertensive disorders (HD) and related maternal complications in uncomplicated twin pregnancies that reached 36 weeks' gestation. We conducted a prospective cohort study of twin pregnancies delivered after 36 weeks' gestation. Cases of twin-twin transfusion syndrome, twin anemia-polycythemia sequence, malformed fetuses, monoamniotic twins, selective reduction, fetal therapy and HD or fetal death before 35 weeks' gestation were excluded. The study's primary outcome was the incidence of severe maternal complications, including severe HD, eclampsia, placental abruption, HELLP (hemolysis, elevated liver enzyme and low platelet) syndrome, pulmonary edema and cerebrovascular disease. Perinatal factors associated with the primary outcome were identified using a multivariate logistic regression model. In 330 enrolled women, the number of cases with the primary outcome was 28 (8.5%; 95% confidence interval 5.9-12.0), including 25 cases of severe HD and each one case of placental abruption, HELLP syndrome and eclampsia. The rate of severe maternal complications significantly increased with gestational age, demonstrating 1.2% at 36 weeks, 3.9% at 37 weeks and 6.4% at 38 weeks. Only gestational proteinuria was identified as the independent risk factor for severe maternal complications (adjusted odds ratio 17.1 [95% confidence interval 6.71-45.4]). Severe maternal HD and related complications increased from late preterm to early term; particularly, patients with gestational proteinuria were at high risk. © 2018 Japan Society of Obstetrics and Gynecology.

Ethanol sclerotherapy of peripheral venous malformations

Energy Technology Data Exchange (ETDEWEB)

Rimon, U. E-mail: rimonu@sheba.health.gov.il; Garniek, A.; Galili, Y.; Golan, G.; Bensaid, P.; Morag, B

2004-12-01

Background: venous malformations are congenital lesions that can cause pain, decreased range of movement, compression on adjacent structures, bleeding, consumptive coagulopathy and cosmetic deformity. Sclerotherapy alone or combined with surgical excision is the accepted treatment in symptomatic malformations after failed treatment attempts with tailored compression garments. Objectives: to report our experience with percutaneous sclerotherapy of peripheral venous malformations with ethanol 96%. Patients and methods: 41 sclerotherapy sessions were performed on 21 patients, aged 4-46 years, 15 females and 6 males. Fourteen patients were treated for painful extremity lesions, while five others with face and neck lesions and two with giant chest malformations had treatment for esthetic reasons. All patients had a pre-procedure magnetic resonance imaging (MRI) study. In all patients, 96% ethanol was used as the sclerosant by direct injection using general anesthesia. A minimum of 1-year clinical follow-up was performed. Follow-up imaging studies were performed if clinically indicated. Results: 17 patients showed complete or partial symptomatic improvement after one to nine therapeutic sessions. Four patients with lower extremity lesions continue to suffer from pain and they are considered as a treatment failure. Complications were encountered in five patients, including acute pulmonary hypertension with cardiovascular collapse, pulmonary embolus, skin ulcers (two) and skin blisters. All patients fully recovered. Conclusion: sclerotherapy with 96% ethanol for venous malformations was found to be effective for symptomatic improvement, but serious complications can occur.

Ethanol sclerotherapy of peripheral venous malformations

International Nuclear Information System (INIS)

Rimon, U.; Garniek, A.; Galili, Y.; Golan, G.; Bensaid, P.; Morag, B.

2004-01-01

Background: venous malformations are congenital lesions that can cause pain, decreased range of movement, compression on adjacent structures, bleeding, consumptive coagulopathy and cosmetic deformity. Sclerotherapy alone or combined with surgical excision is the accepted treatment in symptomatic malformations after failed treatment attempts with tailored compression garments. Objectives: to report our experience with percutaneous sclerotherapy of peripheral venous malformations with ethanol 96%. Patients and methods: 41 sclerotherapy sessions were performed on 21 patients, aged 4-46 years, 15 females and 6 males. Fourteen patients were treated for painful extremity lesions, while five others with face and neck lesions and two with giant chest malformations had treatment for esthetic reasons. All patients had a pre-procedure magnetic resonance imaging (MRI) study. In all patients, 96% ethanol was used as the sclerosant by direct injection using general anesthesia. A minimum of 1-year clinical follow-up was performed. Follow-up imaging studies were performed if clinically indicated. Results: 17 patients showed complete or partial symptomatic improvement after one to nine therapeutic sessions. Four patients with lower extremity lesions continue to suffer from pain and they are considered as a treatment failure. Complications were encountered in five patients, including acute pulmonary hypertension with cardiovascular collapse, pulmonary embolus, skin ulcers (two) and skin blisters. All patients fully recovered. Conclusion: sclerotherapy with 96% ethanol for venous malformations was found to be effective for symptomatic improvement, but serious complications can occur

International standards for fetal growth based on serial ultrasound measurements: the Fetal Growth Longitudinal Study of the INTERGROWTH-21st Project.

Science.gov (United States)

Papageorghiou, Aris T; Ohuma, Eric O; Altman, Douglas G; Todros, Tullia; Cheikh Ismail, Leila; Lambert, Ann; Jaffer, Yasmin A; Bertino, Enrico; Gravett, Michael G; Purwar, Manorama; Noble, J Alison; Pang, Ruyan; Victora, Cesar G; Barros, Fernando C; Carvalho, Maria; Salomon, Laurent J; Bhutta, Zulfiqar A; Kennedy, Stephen H; Villar, José

2014-09-06

In 2006, WHO produced international growth standards for infants and children up to age 5 years on the basis of recommendations from a WHO expert committee. Using the same methods and conceptual approach, the Fetal Growth Longitudinal Study (FGLS), part of the INTERGROWTH-21(st) Project, aimed to develop international growth and size standards for fetuses. The multicentre, population-based FGLS assessed fetal growth in geographically defined urban populations in eight countries, in which most of the health and nutritional needs of mothers were met and adequate antenatal care was provided. We used ultrasound to take fetal anthropometric measurements prospectively from 14 weeks and 0 days of gestation until birth in a cohort of women with adequate health and nutritional status who were at low risk of intrauterine growth restriction. All women had a reliable estimate of gestational age confirmed by ultrasound measurement of fetal crown-rump length in the first trimester. The five primary ultrasound measures of fetal growth--head circumference, biparietal diameter, occipitofrontal diameter, abdominal circumference, and femur length--were obtained every 5 weeks (within 1 week either side) from 14 weeks to 42 weeks of gestation. The best fitting curves for the five measures were selected using second-degree fractional polynomials and further modelled in a multilevel framework to account for the longitudinal design of the study. We screened 13,108 women commencing antenatal care at less than 14 weeks and 0 days of gestation, of whom 4607 (35%) were eligible. 4321 (94%) eligible women had pregnancies without major complications and delivered live singletons without congenital malformations (the analysis population). We documented very low maternal and perinatal mortality and morbidity, confirming that the participants were at low risk of adverse outcomes. For each of the five fetal growth measures, the mean differences between the observed and smoothed centiles for the 3rd

Magnetic resonance imaging (MRI) of congenital cardiovascular malformations

International Nuclear Information System (INIS)

Sakakibara, Makoto; Kobayashi, Shirou; Imai, Hitoshi; Watanabe, Shigeru; Masuda, Yoshiaki; Inagaki, Yoshiaki; Morita, Huminori; Uematsu, Sadao; Arimizu, Noboru

1986-01-01

In order to determine the value of MRI in diagnosing congenital cardiovascular malformations, MR Images were obtained in 25 adult patients with congenital cardiovascular malformations. Gated MRI detected all of 13 atrial septal defects, and all of 4 ventricular septal defects, but ungated MRI detected none of 3 atrial septal defects. Other congenital cardiovascular malformations (2 with Ebstein's disease, 1 with Fallot's pentalogy, and 1 with Pulmonary stenosis) were well visualized. Vascular malformations (1 with Patent ducts arteriosus, 1 with Supravalvelar aortic stenosis, 1 with Coarctation of Aorta, 1 with Right Aortic Arch) were well visualized in all of 7 patients by ungated MRI. MRI was a valuable noninvasive method of diagnosing congenital heart disease. (author)

Fetal brain damage following maternal carbon monoxide intoxication: an experimental study

Energy Technology Data Exchange (ETDEWEB)

Ginsberg, M D; Myers, R E

1974-01-01

Techniques of fetal monitoring, including fetal blood sampling in utero, were employed to study the physiological effects of acute maternal carbon monoxide intoxication on nine term-pregnant female rhesus monkeys exposed to 0.1 to 0.3% inspired carbon monoxide over 1 to 3 hr. The mothers tolerated carboxyhemoglobin levels exceeding 60% without clinical sequelae, whereas the fetuses promptly developed profound hypoxia upon exposure of the mothers to CO. The fetal COHb levels rose only gradually over 1 to 3 hr, and thus contributed only slightly to the development of early fetal hypoxia. The fetal hypoxia was associated with bradycardia, hypotension, and metabolic and respiratory acidosis. Severity of intrauterine hypoxia was closely correlated with the appearance of brain damage. Brain swelling associated with hemorrhagic necrosis of the cerebral hemispheres (severe brain damage) appeared only in fetuses whose arterial oxygen content was reduced below 1.0 ml/100 ml for at least 45 min during the maternal CO intoxication.

Epizootic of ovine congenital malformations associated with Schmallenberg virus infection.

Science.gov (United States)

van den Brom, R; Luttikholt, S J M; Lievaart-Peterson, K; Peperkamp, N H M T; Mars, M H; van der Poel, W H M; Vellema, P

2012-02-01

Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25 November and 20 December 2011, congenital malformations in newborn lambs on sheep farms throughout the country were reported to the Animal Health Service in Deventer. Subsequently, small ruminant veterinary specialists visited these farms and collected relevant information from farmers by means of questionnaires. The deformities varied from mild to severe, and ewes were reported to have given birth to both normal and deformed lambs; both male and female lambs were affected. Most of the affected lambs were delivered at term. Besides malformed and normal lambs, dummy lambs, unable to suckle, were born also on these farms. None of the ewes had shown clinical signs during gestation or at parturition. Dystocia was common, because of the lambs' deformities. Lambs were submitted for post-mortem examination, and samples of brain tissue were collected for virus detection. The main macroscopic findings included arthrogryposis, torticollis, scoliosis and kyphosis, brachygnathia inferior, and mild-to-marked hypoplasia of the cerebrum, cerebellum and spinal cord. Preliminary data from the first ten affected farms suggest that nutritional deficiencies, intoxication, and genetic factors are not likely to have caused the malformations. Preliminary diagnostic analyses of precolostral serum samples excluded border disease virus, bovine viral diarrhoea virus, and bluetongue virus. In December 2011, samples of brain tissue from 54 lambs were sent to the Central Veterinary Institute of Wageningen University Research, Lelystad. Real-time PCR detected the presence of a virus, provisionally named the Schmallenberg virus, in brain tissue from 22 of the 54 lambs, which originated from seven of eight

Marginal Biotin Deficiency Is Teratogenic in ICR Mice1,2

OpenAIRE

Mock, Donald M.; Mock, Nell I.; Stewart, Christopher W.; LaBorde, James B.; Hansen, Deborah K.

2003-01-01

The incidence of marginal biotin deficiency in normal human gestation is approximately one in three. In ICR mice, maternal biotin deficiency results in cleft palate, micrognathia, microglossia and limb hypoplasia. However, the relationships among the severity of maternal biotin deficiency, fetal biotin status and malformations have not been reported. This study utilized validated indices of biotin status to investigate the relationships among maternal biotin status, fetal biotin status and th...

Prevalence of associated extracardiac malformations in the congenital heart disease population.

Science.gov (United States)

Egbe, Alexander; Uppu, Santosh; Lee, Simon; Ho, Deborah; Srivastava, Shubhika

2014-10-01

The authors hypothesized that changes in prenatal factors such as termination of pregnancy for fetal anomalies and prenatal vitamin supplementation have altered the epidemiology of patients with multiple congenital anomalies and may have had an impact on their prevalence in the current era. This study reviewed the Nationwide Inpatient Sample database from 1998 to 2008 and compared the prevalence of ECM among live births with a CHD diagnosis (case) and that among live births without a CHD diagnosis (control). For this study, 42 ECM and 10 CHD diagnoses were selected for subanalysis. Longitudinal analysis also was performed to determine temporal variation of ECM prevalence in the CHD population during the 11-year study period. The cohort in this study consisted of 97,154 patients in the case group and 12,078,482 subjects in the control group. The prevalences in the CHD population were 11.4 % for nonsyndromic congenital malformation (NSCM), 2.2 % for genetic syndrome (GS), and 13.6 % for overall extracardiac congenital malformation (ECM). The prevalences in the control group were 6.7 % for NSCM, 0.3 % for GS, and 7.0 % for ECM. The findings showed a strong association of NSCM [odds ratio (OR) 1.88; 95 % confidence interval (CI) 1.73-1.94], GS (OR 2.52; 95 % CI 2.44-2.61), and overall ECM (OR 2.01; 95 % CI 1.97-2.14) with CHD. The prevalences of GS and multiple organ system CM decreased significantly during the study period. This study was the largest and most comprehensive population-based study to evaluate the association between CHD and ECM in newborns.

A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations

OpenAIRE

Garrido-Allepuz, Carlos; Haro, Endika; González-Lamuño, Domingo; Martínez-Frías, María Luisa; Bertocchini, Federica; Ros, Maria A.

2011-01-01

Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its pathogenesis. Sirenomelia occurs in mice lacking Cyp26a1, an enzyme that degrades retinoic acid (RA), and in mice that develop with reduced b...

Arteriovenous malformation of face

Directory of Open Access Journals (Sweden)

Ashok Kumar

2017-01-01

Full Text Available Arteriovenous malformations (AVMs are rare congenital vascular malformations accounting only 1.5% of all vascular anomalies with 50% occurrence in the oral and maxillofacial region. It usually results from birth defects of the vasculature. A literature search revealed only few case reports of AVMs in the facial region. Lack of meticulous diagnosis, scarcity of knowledge, and paucity of literature can result in their exsanguinations leading to fatal hemorrhagic incidents after various dental procedures such as tooth extraction, surgical intervention, puncture wound, or blunt injury in involved area. The present case describes the accidental diagnosis of asymptomatic high-flow AVMs in the facial region of pediatric patient reported primarily for the treatment of periapical abscess. This case report is unique because although there was no history of bleeding episodes, thorough examination and investigations diagnosed it as high-flow vascular malformation. It is important for the dental practitioner to be aware of AVM which may be present in the head and neck region that can produce fatal bleeding episodes during various dental procedures. Proper diagnosis of AVMs through complete history, precise clinical examination, and advanced imaging modalities can help in preventing serious life-threatening complications.

Growth assessment in diagnosis of Fetal Growth Restriction. Review.

Science.gov (United States)

Albu, A R; Horhoianu, I A; Dumitrascu, M C; Horhoianu, V

2014-06-15

The assessment of fetal growth represents a fundamental step towards the identification of the true growth restricted fetus that is associated to important perinatal morbidity and mortality. The possible ways of detecting abnormal fetal growth are taken into consideration in this review and their strong and weak points are discussed. An important debate still remains about how to discriminate between the physiologically small fetus that does not require special surveillance and the truly growth restricted fetus who is predisposed to perinatal complications, even if its parameters are above the cut-off limits established. In this article, we present the clinical tools of fetal growth assessment: Symphyseal-Fundal Height (SFH) measurement, the fetal ultrasound parameters widely taken into consideration when discussing fetal growth: Abdominal Circumference (AC) and Estimated Fetal Weight (EFW); several types of growth charts and their characteristics: populational growth charts, standard growth charts, individualized growth charts, customized growth charts and growth trajectories.

Patterns of late embryonic and fetal mortality and association with several factors in sheep.

Science.gov (United States)

Dixon, A B; Knights, M; Winkler, J L; Marsh, D J; Pate, J L; Wilson, M E; Dailey, R A; Seidel, G; Inskeep, E K

2007-05-01

Embryonic and fetal mortality reduce lambing rates and litter sizes, thus contributing to economic losses in the sheep industry. In the current study, the timing of late embryonic and fetal loss in ewes and the factors with which these losses were associated were examined. Ewes lambing and lambs born were compared with pregnancy diagnosis and counts of embryos by ultrasonography near d 25, 45, 65, or 85 of gestation. Approximately 19.9% of the ewes experienced late embryonic loss, fetal loss, or both; and 21.2% of the embryos or fetuses were lost from d 25 to term. Potential offspring were lost throughout gestation; 3.7% of embryos from d 25 to 45, 4.3% of fetuses from d 45 to 65, 3.3% from d 65 to 85, and 11.5% from d 85 to parturition; thus, approximately 3 to 4% of the potential offspring were lost for each 20-d period of pregnancy beyond d 25. A greater proportion of ewes lost one (36.7%) rather than all (20.5% single; 3.8% multiple) embryos or fetuses. The patterns of loss were similar in ewes mated during the anestrous season and the transitional period and did not vary with service period within breeding season or method of synchronization of estrus. Late embryonic or fetal losses were not related to the temperature-humidity index. Maternal serum collected near d 25, 45, 65, or 85 of gestation was assayed for concentrations of progesterone, estradiol-17beta , and vascular endothelial growth factor (VEGF). The proportions of embryos or fetuses lost were associated with breed type (P progesterone (P progesterone at d 25 decreased below 2 ng/mL (P progesterone in maternal serum on d 25.

The presentation and management of complex female genital malformations.

Science.gov (United States)

Acién, Pedro; Acién, Maribel

2016-01-01

Common uterine anomalies are important owing to their impact on fertility, and complex mesonephric anomalies and certain Müllerian malformations are particularly important because they cause serious clinical symptoms and affect woman's quality of life, in addition to creating fertility problems. In these cases of complex female genital tract malformations, a correct diagnosis is essential to avoid inappropriate and/or unnecessary surgery. Therefore, acquiring and applying the appropriate embryological knowledge, management and therapy is a challenge for gynaecologists. Here, we considered complex malformations to be obstructive anomalies and/or those associated with cloacal and urogenital sinus anomalies, urinary and/or extragenital anomalies, or other clinical implications or symptoms creating a difficult differential diagnosis. A diligent and comprehensive search of PubMed and Scopus was performed for all studies published from 1 January 2011 to 15 April 2015 (then updated up to September 2015) using the following search terms: 'management' in combination with either 'female genital malformations' or 'female genital tract anomalies' or 'Müllerian anomalies'. The MeSH terms 'renal agenesis', 'hydrocolpos', 'obstructed hemivagina' 'cervicovaginal agenesis or atresia', 'vaginal agenesis or atresia', 'Herlyn-Werner-Wunderlich syndrome', 'uterine duplication' and 'cloacal anomalies' were also used to compile a list of all publications containing these terms since 2011. The basic embryological considerations for understanding female genitourinary malformations were also revealed. Based on our experience and the updated literature review, we studied the definition and classification of the complex malformations, and we analysed the clinical presentation and different therapeutic strategies for each anomaly, including the embryological and clinical classification of female genitourinary malformations. From 755 search retrieved references, 230 articles were analysed and

Arteriovenous malformation of the mandible

International Nuclear Information System (INIS)

Kim, Dong Youn; Lee, Kang Sook; Choi, Karp Shik

1995-01-01

The arteriovenous malformation, an uncommon lesion, is a direct communication between an artery and a vein that bypasses the intervening capillary bed. The authors experienced two cases of arteriovenous malformation in 17-year-old and 18-year-old female patients who had suffered from mandibular pain and gingival bleeding. As a result of careful analysis of clinical and angiographic radiological examinations, we diagnosed them as arteriovenous malformations. The following result were obtained; 1. Main clinical symptoms were dull pain and gingival bleeding on the mandibular body area and redness, pain on palpitation in the lesional sites were also observed. 2. Radiographically, well-defined radiolucent lesions with multiple osteolytic defects were observed. In radionuclide scan, increased uptakes of radioisotope were observed in the lesional sites. 3. Increased venous shunt supplied by the facial, lingual and inferior alveolar arteries was observed in angiography. After embolotherapy was performed, no recurrence was reported during 3 to 6 months follow up.

Octreotide therapy and restricted fetal growth

DEFF Research Database (Denmark)

Geilswijk, Marianne; Andersen, Lise Lotte Torvin; Frost, Morten

2017-01-01

that octreotide treatment in pregnancy, as well as hypoglycemia in itself, may pose a risk of fetal growth restriction. During pregnancy, management of blood glucose levels in familial hyperinsulinemic hypoglycemia thus forms a medical dilemma. We report on pregnancy outcomes in a woman with symptomatic familial...... hyperinsulinemic hypoglycemia, type 3. During the patient's first pregnancy with a viable fetus octreotide treatment was instituted in gestational age 23 weeks to prevent severe hypoglycemic incidences. Fetal growth velocity declined, and at 37 weeks of gestation, intrauterine growth retardation was evident...... growth velocity was normal. We conclude that octreotide treatment during pregnancy may pose a risk of fetal growth restriction and warrants careful consideration. In some cases of familial hyperinsulinemic hypoglycemia, blood glucose levels can be successfully managed through diet only, also during...

MR findings of congenital anorectal malformation

Energy Technology Data Exchange (ETDEWEB)

Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo [Ewha Womens University, medical College, Seoul (Korea, Republic of)

1995-05-15

To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation.

MR findings of congenital anorectal malformation

International Nuclear Information System (INIS)

Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo

1995-01-01

To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation

The OSR1 rs12329305 polymorphism contributes to the development of congenital malformations in cases of stillborn/neonatal death.

Science.gov (United States)

Lozić, Bernarda; Krželj, Vjekoslav; Kuzmić-Prusac, Ivana; Kuzmanić-Šamija, Radenka; Čapkun, Vesna; Lasan, Ružica; Zemunik, Tatijana

2014-08-28

Involvement of development-related gene polymorphisms in multifactorial/polygenic etiology of stillborn/neonatal deaths due to malformations has been insufficiently tested. Since these genes showed evolutional stability and their mutations are very rare, we can assume that their polymorphic variants may be a risk factor associated with the occurrence of developmental disorders of unknown etiology or can enhance the phenotypic variability of known genetic disorders. To determine the association of 3 polymorphisms involved in the regulation of the early embryonic development of different organs, we conducted an association study of their relation to the particular malformation. We selected 140 samples of archived paraffin tissue samples from deceased patients in which fetal/neonatal autopsy examination had shown congenital abnormalities as the most likely cause of death. The polymorphisms of OSR1 rs12329305, rs9936833 near FOXF1, and HOXA1 rs10951154 were genotyped using the TaqMan allelic discrimination assay. After Bonferroni correction for multiple testing, significant allelic association with stillborn/neonatal deaths was observed for rs12329305 (p=7×10-4). In addition, association analysis for the same polymorphism was shown in the subgroup with isolated anomalies (1.25×10^-5), particularly in the subgroup of cases with kidney and heart anomalies (p=4.18×10^-5, p=5.12×10^-8, respectively). The findings of the present study showed, for the first time, the role of the OSR1 rs12329305 polymorphism in the development of congenital malformations in cases of stillborn/neonatal death, particularly in those with congenital kidney and heart developmental defects.

Cranial CT signs of the Chiari II malformation

International Nuclear Information System (INIS)

Naidich, T.P.; Pudlowski, R.M.

1980-01-01

Serial CT scans of 32 patients with proved Chiari II malformations and 19 patients with hydrocephalus and meningomyelocele (presumed to have Chiari II malformation) were reviewed and compared with CT scans from 30 patients with non-chiari aqueductal stenosis to develop criteria for identifying the Chiari II malformation and for differentiating it from other forms of hydrocephalus. Correlation with post-mortem specimens of Chiari II brains provided a pathologic basis for the CT signs observed. (orig.) [de

A case of pancreatic AV malformation in an elderly man.

Science.gov (United States)

Gupta, Vipin; Kedia, Saurabh; Sonika, Ujjwal; Madhusudhan, Kumble Seetharama; Pal, Sujoy; Garg, Pramod

2018-06-01

A 60-year-old man presented with recurrent abdominal pain and weight loss for 6 months. Abdominal imaging showed a large vascular lesion in the head and neck of pancreas suggestive of arteriovenous malformation (AV malformation). Endoscopic ultrasound was done which showed features of AV malformation with no evidence of pancreatic malignancy. Surgery was planned for definitive treatment of malformation. Digital subtraction angiography with angioembolization was done prior to surgery to reduce vascularity of the lesion. He recovered after a pylorus preserving pancreaticoduodenectomy. Histopathology of the resected specimen confirmed the pancreatic AV malformation. There has been no recurrence at 2 years of follow-up.

Congenital vascular malformations in scintigraphic evaluation

International Nuclear Information System (INIS)

Pilecki, Stanisław; Gierach, Marcin; Gierach, Joanna; Świętaszczyk, Cyprian; Junik, Roman; Lasek, Władysław

2014-01-01

Congenital vascular malformations are tumour-like, non-neoplastic lesions caused by disorders of vascular tissue morphogenesis. They are characterised by a normal cell replacement cycle throughout all growth phases and do not undergo spontaneous involution. Here we present a scintigraphic image of familial congenital vascular malformations in two sisters. A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies appearing progressively in the upper and lower right limbs, chest wall and spleen. A Parkes Weber syndrome was diagnosed based on the clinical picture. Due to the occurrence of new foci of malformations, a whole-body scintigraphic examination was performed. A 12-years-old girl reported a lump in the right lower limb present for approximately 2 years, which was clinically identified as a vascular lesion in the area of calcaneus and talus. Phleboscintigraphy visualized normal radiomarker outflow from the feet via the deep venous system, also observed in the superficial venous system once the tourniquets were released. In static and whole-body examinations vascular malformations were visualised in the area of the medial cuneiform, navicular and talus bones of the left foot, as well as in the projection of right calcaneus and above the right talocrural joint. People with undiagnosed disorders related to the presence of vascular malformations should undergo periodic follow-up to identify lesions that may be the cause of potentially serious complications and to assess the results of treatment. Presented scintigraphic methods may be used for both diagnosing and monitoring of disease progression

Bisphenol A and congenital developmental defects in humans

Energy Technology Data Exchange (ETDEWEB)

Guida, Maurizio [Department of Medicine, University of Salerno (Italy); Troisi, Jacopo, E-mail: j.troisi@studenti.unisa.it [Department of Medicine, University of Salerno (Italy); Ciccone, Carla [“G. Moscati” Hospital Avellino (Italy); Granozio, Giovanni; Cosimato, Cosimo [Department of Medicine, University of Salerno (Italy); Sardo, Attilio Di Spiezio; Ferrara, Cinzia [Department of Medicine, “Federico II”, University of Naples (Italy); Guida, Marco [Department of Biology, “Federico II”, University of Naples (Italy); Nappi, Carmine [Department of Medicine, “Federico II”, University of Naples (Italy); Zullo, Fulvio [Department of Medicine, University of Salerno (Italy); Di Carlo, Costantino [Department of Medicine, “Federico II”, University of Naples (Italy)

2015-04-15

Highlights: • We show a correlation between environmental exposure to BPA and fetal malformations in humans. • We show that a reduced ability to metabolize the BPA in the mother can concur to the occurrence of malformations. • The average value of free BPA appears to be nearly three times greater in case of chromosomal malformations than the controls. - Abstract: Over 50% of the causes of fetal malformations in humans are still unknown. Recent evidence suggests the relationship between environmental exposure to endocrine disruptors and fetal malformations. Our study aims to establish the role of Bisphenol A (BPA), if any, in altering human reproduction. We enrolled 151 pregnant women who were divided into two groups: case group (CS, n = 101), women with established diagnosis of developmental defect, and control group (CL, n = 50), pregnant women with normally developed fetus. Total, free and conjugated BPA were measured in their blood using GC–MS with isotopic dilution. The results show a correlation between environmental exposure to BPA and the genesis of fetal malformations. Conjugated BPA, which was higher in the CL, casts light on the hypothesis that a reduced ability to metabolize the chemical in the mother can concur to the occurrence of malformation. In a more detailed manner, in case of chromosomal malformations, the average value of free BPA appears to be nearly three times greater than that of the controls. Similarly, in case of central and peripheral nervous system non-chromosomal malformations, the value of free BPA is nearly two times greater than that of the controls.

Bisphenol A and congenital developmental defects in humans

International Nuclear Information System (INIS)

Guida, Maurizio; Troisi, Jacopo; Ciccone, Carla; Granozio, Giovanni; Cosimato, Cosimo; Sardo, Attilio Di Spiezio; Ferrara, Cinzia; Guida, Marco; Nappi, Carmine; Zullo, Fulvio; Di Carlo, Costantino

2015-01-01

Highlights: • We show a correlation between environmental exposure to BPA and fetal malformations in humans. • We show that a reduced ability to metabolize the BPA in the mother can concur to the occurrence of malformations. • The average value of free BPA appears to be nearly three times greater in case of chromosomal malformations than the controls. - Abstract: Over 50% of the causes of fetal malformations in humans are still unknown. Recent evidence suggests the relationship between environmental exposure to endocrine disruptors and fetal malformations. Our study aims to establish the role of Bisphenol A (BPA), if any, in altering human reproduction. We enrolled 151 pregnant women who were divided into two groups: case group (CS, n = 101), women with established diagnosis of developmental defect, and control group (CL, n = 50), pregnant women with normally developed fetus. Total, free and conjugated BPA were measured in their blood using GC–MS with isotopic dilution. The results show a correlation between environmental exposure to BPA and the genesis of fetal malformations. Conjugated BPA, which was higher in the CL, casts light on the hypothesis that a reduced ability to metabolize the chemical in the mother can concur to the occurrence of malformation. In a more detailed manner, in case of chromosomal malformations, the average value of free BPA appears to be nearly three times greater than that of the controls. Similarly, in case of central and peripheral nervous system non-chromosomal malformations, the value of free BPA is nearly two times greater than that of the controls

Ectopia cordis: a case report

Directory of Open Access Journals (Sweden)

Gonçalo Filipe Infante Mesquita Dias

2014-09-01

Full Text Available Introduction: ectopia cordis is a rare congenital malformation, with an estimated incidence of 5 to 8 per million live births. It is defined as a malformation in which the heart is located in an extra-thoracic position. Ectopia cordis may occur as an isolated malformation or associated with other anomalies such as omphalocele, congenital heart disease or integrating Cantrell syndrome. The size and location of the defect influence the prognosis. Description: we report a case of a 24-year-old nulliparous woman, with no relevant family or personal history, in which the prenatal fetal ultrasound, performed at 21 weeks of gestation, revealed adefect of the anterior chest wall with exteriorization of the heart. Discussion: fetal echocardiography revealed a severe congenital heart disease. The parents decided to continue the pregnancy, after being duly informed by a multidisciplinary team. Delivery occurred at 37 weeks of gestation but the female newborn died one hour afterwards. Pathological examination confirmed the sonographic findings.

Fetal Phthalate Screen: Assessment of Several Phthalate Esters (PE) on Fetal Rodent Testosterone (T) Production and Gene Expressionfollowing In Utero Exposure

Science.gov (United States)

PE are a large family of compounds used in a wide array of products from medical tubing to pharmaceuticals to cables. Studies have shown that in utero treatment with PE such as diethyl hexyl phthalate (DEHP) during the critical period of fetal reproductive development produced ma...

Neonatal outcome after fetal anemia managed by intrauterine transfusion.

Science.gov (United States)

Garabedian, C; Rakza, T; Thomas, D; Wibaut, B; Vaast, P; Subtil, D; Houfflin-Debarge, V

2015-11-01

In-utero transfusion is now well under control and improves the survival of foetuses monitored for fetal anemia with a survival rate of more than 80 %. The aim was to evaluate short-term neonatal outcome after fetal severe anemia managed by intrauterine transfusions. We did a retrospective study of all neonates born after management of severe fetal anemia (n = 93) between January 1999 and January 2013 in our regional center. The two main causes of anemia were maternal red blood cell alloimmunization (N = 81, 87 %) and Parvovirus B19 infection (N = 10, 10.8 %). In the alloimmunization group, phototherapy was implemented in 85.2 % of cases with a maximum level of bilirubin of 114.4 ± 60.7 (mg/dl). Transfusion and exchange transfusion were, respectively, required in 51.9 % and in 34.6 % of cases. One neonate presented a convulsive episode, and we observed three neonatal deaths. In the parvovirus group, none of the child had anemia at birth and no management was necessary. Contemporary management of Rhesus disease is associated with encouraging neonatal outcomes. In case of Parvovirus infection, no specific management is necessary at. But, in all cases of fetal anemia, children should be followed up with particular attention to neurologic development. • In-utero transfusion is now well under control and improves the survival of fetuses monitored for fetal anemia. • Limited studies are available on the effect of IUT on postnatal outcome in infants with a history of fetal anemia. What is New: • Contemporary management of severe Rhesus disease is associated with encouraging neonatal outcomes. • The majority of infants can be managed with phototherapy and a limited number of top-up transfusions and exchange transfusions. In case of Parvovirus infection, the short-term neonatal outcome is excellent.

Congenital malformations among newborns in Kenya | Muga ...

African Journals Online (AJOL)

Therefore, a study was conducted to determine the patterns and incidence of congenital malformations at birth in newborns in Kenya and thereby analyze associated predisposing factors in their mothers. This single cross-sectional ... followed by malformations of the central nervous system (28.6%). Polydactyl was the most ...

Field guide to malformations of frogs and toads: with radiographic interpretations

Science.gov (United States)

Meteyer, Carol U.

2000-01-01

In 1995, students found numerous malformed frogs on a field trip to a Minnesota pond. Since that time, reports of malformed frogs have increased dramatically. Malformed frogs have now been reported in 44 states in 38 species of frogs, and 19 species of toads. Estimates as high as 60% of the newly metamorphosed frog populations have had malformations at some ponds (NARCAM, ’99). The wide geographic distribution of malformed frogs and the variety of malformations are a concern to resource managers, research scientists and public health officials. The potential for malformations to serve as a signal of ecosystem disruption, and the affect this potential disruption might have on other organisms that share those ecosystems, has not been resolved. Malformations represent an error that occurred early in development. The event that caused the developmental error is temporally distant from the malformation we see in the fully developed animal. Knowledge of normal developmental principles is necessary to design thoughtful investigations that will define the events involved in abnormal development in wild frog populations.Development begins at the time an egg is fertilized and progresses by chemical communication between cells and cell layers. This communication is programmed through gene expression. Malformations represent primary errors in development, errors in chemical communication or translation of genetic information. Deformations arise later in development and usually result from the influence of mechanical factors (such as amputation) that alter shape or anatomy of a structure that has developed normally. The occurrence and the type of malformations are influenced by the type of error or insult as well as the timing of the error (the developmental stage at which the error occurred). The appearance of the malformation can therefore provide clues that suggest when the error may have occurred. If the malformation is an incomplete organ, such as an incomplete limb, the

Abernethy malformation: a case report

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Pathak Ashish

2012-05-01

Full Text Available Abstract Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4 weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients.

[Fetal version as ambulatory intervention].

Science.gov (United States)

Nohe, G; Hartmann, W; Klapproth, C E

1996-06-01

The external cephalic version (ECV) of the fetus at term reduces the maternal and fetal risks of intrapartum breech presentation and Caesarean delivery. Since 1986 over 800 external cephalic versions were performed in the outpatient Department of Obstetrics and Gynaecology of the Städtische Frauenklinik Stuttgart. 60.5% were successful. NO severe complications occurred. Sufficient amniotic fluid as well as the mobility of the fetal breech is a major criterion for the success of the ECV. Management requires a safe technique for mother and fetus. This includes ultrasonography, elektronic fetal monitoring and the ability to perform immediate caesarean delivery as well as the performance of ECV without analgesicas and sedatives. More than 70% of the ECV were successful without tocolysis. In unsuccessful cases the additional use of tocolysis improves the success rate only slightly. Therefore routine use of tocolysis does not appear necessary. External cephalic version can be recommended as an outpatient treatment without tocolysis.

Fluid mechanics of human fetal right ventricles from image-based computational fluid dynamics using 4D clinical ultrasound scans.

Science.gov (United States)

Wiputra, Hadi; Lai, Chang Quan; Lim, Guat Ling; Heng, Joel Jia Wei; Guo, Lan; Soomar, Sanah Merchant; Leo, Hwa Liang; Biwas, Arijit; Mattar, Citra Nurfarah Zaini; Yap, Choon Hwai

2016-12-01

There are 0.6-1.9% of US children who were born with congenital heart malformations. Clinical and animal studies suggest that abnormal blood flow forces might play a role in causing these malformation, highlighting the importance of understanding the fetal cardiovascular fluid mechanics. We performed computational fluid dynamics simulations of the right ventricles, based on four-dimensional ultrasound scans of three 20-wk-old normal human fetuses, to characterize their flow and energy dynamics. Peak intraventricular pressure gradients were found to be 0.2-0.9 mmHg during systole, and 0.1-0.2 mmHg during diastole. Diastolic wall shear stresses were found to be around 1 Pa, which could elevate to 2-4 Pa during systole in the outflow tract. Fetal right ventricles have complex flow patterns featuring two interacting diastolic vortex rings, formed during diastolic E wave and A wave. These rings persisted through the end of systole and elevated wall shear stresses in their proximity. They were observed to conserve ∼25.0% of peak diastolic kinetic energy to be carried over into the subsequent systole. However, this carried-over kinetic energy did not significantly alter the work done by the heart for ejection. Thus, while diastolic vortexes played a significant role in determining spatial patterns and magnitudes of diastolic wall shear stresses, they did not have significant influence on systolic ejection. Our results can serve as a baseline for future comparison with diseased hearts. Copyright © 2016 the American Physiological Society.

Secondhand smoke and adverse fetal outcomes in nonsmoking pregnant women: a meta-analysis.

Science.gov (United States)

Leonardi-Bee, Jo; Britton, John; Venn, Andrea

2011-04-01

To determine the risk of adverse fetal outcomes of secondhand smoke exposure in nonsmoking pregnant women. This was a systematic review and meta-analysis in accordance with Meta-analysis of Observational Studies in Epidemiology (MOOSE) guidelines. We searched Medline and Embase (to March 2009) and reference lists for eligible studies; no language restrictions were imposed. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were estimated by using random-effect models. Our search was for epidemiologic studies of maternal exposure to secondhand smoke during pregnancy in nonsmoking pregnant women. The main outcome measures were spontaneous abortion, perinatal and neonatal death, stillbirth, and congenital malformations. We identified 19 studies that assessed the effects of secondhand smoke exposure in nonsmoking pregnant women. We found no evidence of a statistically significant effect of secondhand smoke exposure on the risk of spontaneous abortion (OR: 1.17 [95% CI: 0.88-1.54]; 6 studies). However, secondhand smoke exposure significantly increased the risk of stillbirth (OR: 1.23 [95% CI: 1.09-1.38]; 4 studies) and congenital malformation (OR: 1.13 [95% CI: 1.01-1.26]; 7 studies), although none of the associations with specific congenital abnormalities were individually significant. Secondhand smoke exposure had no significant effect on perinatal or neonatal death. Pregnant women who are exposed to secondhand smoke are estimated to be 23% more likely to experience stillbirth and 13% more likely give birth to a child with a congenital malformation. Because the timing and mechanism of this effect is not clear, it is important to prevent secondhand smoke exposure in women before and during pregnancy.

Impact of Oxidative Stress in Fetal Programming

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Loren P. Thompson

2012-01-01

Full Text Available Intrauterine stress induces increased risk of adult disease through fetal programming mechanisms. Oxidative stress can be generated by several conditions, such as, prenatal hypoxia, maternal under- and overnutrition, and excessive glucocorticoid exposure. The role of oxidant molecules as signaling factors in fetal programming via epigenetic mechanisms is discussed. By linking oxidative stress with dysregulation of specific target genes, we may be able to develop therapeutic strategies that protect against organ dysfunction in the programmed offspring.

Contribution of Rare Copy Number Variants to Isolated Human Malformations

Science.gov (United States)

Serra-Juhé, Clara; Rodríguez-Santiago, Benjamín; Cuscó, Ivon; Vendrell, Teresa; Camats, Núria; Torán, Núria; Pérez-Jurado, Luis A.

2012-01-01

Background Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. Methodology/Principal Findings We selected samples from 95 fetuses with congenital malformations not ascribed to a specific syndrome (68 with isolated malformations, 27 with multiple malformations). Karyotyping and Multiplex Ligation-dependent Probe Amplification (MLPA) discarded recurrent genomic and cytogenetic rearrangements. DNA extracted from the affected tissue (46%) or from lung or liver (54%) was analyzed by molecular karyotyping. Validations and inheritance were obtained by MLPA. We identified 22 rare copy number variants (CNV) [>100 kb, either absent (n = 7) or very uncommon (n = 15, malformations (21%), including 11 deletions and 11 duplications. One of the 9 tested rearrangements was de novo while the remaining were inherited from a healthy parent. The highest frequency was observed in fetuses with heart hypoplasia (8/17, 62.5%), with two events previously related with the phenotype. Double events hitting candidate genes were detected in two samples with brain malformations. Globally, the burden of deletions was significantly higher in fetuses with malformations compared to controls. Conclusions/Significance Our data reveal a significant contribution of rare deletion-type CNV, mostly inherited but also de novo, to human congenital malformations, especially heart hypoplasia, and reinforce the hypothesis of a multifactorial etiology in most cases. PMID:23056206

The effect of intermittent dosing of Nicotiana glauca on teratogenesis in goats

Science.gov (United States)

Sustained inhibition of fetal movement in livestock species, induced by several poisonous plants, can result in numerous skeletal-contracture malformations. Lupines are responsible for a condition in cattle referred to as “crooked calf syndrome” that occurs when pregnant cattle graze teratogenic lup...

Skeletal malformations in fetuses with Meckel syndrome

DEFF Research Database (Denmark)

Kjaer, K W; Fischer Hansen, B; Keeling, J W

1999-01-01

one foot was normal. Malformations of the cranial base (the basilar part of the occipital bone or the postsphenoid bone) occurred in five cases, and the vertebral bodies in the lumbar region of the spine were malformed (cleft) in three cases. It is proposed that a skeletal analysis be included...

Perinatal outcome of obvious congenital malformation as seen at the ...

African Journals Online (AJOL)

Gastrointestinal, central nervous and musculo-skeletal system malformations were the commonest seen with individual incidences of 3.9, 3.5 and 2.1 per 1000 total births, respectively. Unclassified congenital malformations had the highest case fatality while central nervous system malformations constituted the commonest ...

Does the Use of Diagnostic Technology Reduce Fetal Mortality?

Science.gov (United States)

Grytten, Jostein; Skau, Irene; Sørensen, Rune; Eskild, Anne

2018-01-19

To examine the effect that the introduction of new diagnostic technology in obstetric care has had on fetal death. The Medical Birth Registry of Norway provided detailed medical information for approximately 1.2 million deliveries from 1967 to 1995. Information about diagnostic technology was collected directly from the maternity units, using a questionnaire. The data were analyzed using a hospital fixed-effects regression with fetal mortality as the outcome measure. The key independent variables were the introduction of ultrasound and electronic fetal monitoring at each maternity ward. Hospital-specific trends and risk factors of the mother were included as control variables. The richness of the data allowed us to perform several robustness tests. The introduction of ultrasound caused a significant drop in fetal mortality rate, while the introduction of electronic fetal monitoring had no effect on the rate. In the population as a whole, ultrasound contributed to a reduction in fetal deaths of nearly 20 percent. For post-term deliveries, the reduction was well over 50 percent. The introduction of ultrasound made a major contribution to the decline in fetal mortality at the end of the last century. © Health Research and Educational Trust.

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

Science.gov (United States)

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

2015-01-01

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

Common congenital malformations of the brain

International Nuclear Information System (INIS)

Naidich, T.P.; Zimmerman, R.A.

1987-01-01

In nearly all cases, congenital malformations are characterized most easily by their anatomic features and are best images with T1-weighted short TR/short TE pulse sequences. T2-weighted, long TR/long TE images are used primarily for the phakomatoses that are commonly associated with brain tumors. This chapter reviews the features of the most common congenital malformations and illustrates their typical magnetic resonance imaging (MRI) appearance

Brain Malformations Associated with Knobloch Syndrome – Review of Literature, Expanding Clinical Spectrum and Identification of Novel Mutations

Science.gov (United States)

Caglayan, Ahmet Okay; Baranoski, Jacob F.; Aktar, Fesih; Han, Wengi; Tuysuz, Beyhan; Guzel, Aslan; Guclu, Bulent; Kaymakcalan, Hande; Aktekin, Berrin; Akgumus, Gozde Tugce; Murray, Phillip B.; Omay, E. Zeynep Erson; Caglar, Caner; Bakircioglu, Mehmet; Sakalar, Yildirim Bayezit; Guzel, Ebru; Demir, Nihat; Tuncer, Oguz; Senturk, Senem; Ekici, Baris; Minja, Frank J.; Šestan, Nenad; Yasuno, Katsuhito; Bilguvar, Kaya; Caksen, Huseyin; Gunel, Murat

2014-01-01

BACKGROUND Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, cutis aplasia). Although there is clear heterogeneity in clinical presentation, central nervous system malformations, aside from the characteristic encephalocele, have not typically been considered a component of the disease phenotype. METHODS Four patients originally presented for genetic evaluation of symptomatic structural brain malformations. Whole-genome genotyping, whole-exome sequencing, and confirmatory Sanger sequencing were performed. Using immunohistochemical analysis, we investigated the protein expression pattern of COL18A1 in the mid-fetal and adult human cerebral cortex and then analyzed the spatial and temporal changes in the expression pattern of COL18A1 during human cortical development using the Human Brain Transcriptome database. RESULTS We identified two novel homozygous deleterious frame-shift mutations in the COL18A1 gene. Upon further investigation of these patients and their families, we found that many exhibited certain characteristics of Knobloch syndrome, including pronounced ocular defects. Our data strongly support an important role for COL18A1 in brain development and this report contributes to an enhanced characterization of the brain malformations that can result from deficiencies of collagen XVIII. CONCLUSIONS This case series highlights the diagnostic power and clinical utility of whole-exome sequencing technology – allowing clinicians and physician scientists to better understand the pathophysiology and presentations of rare diseases. We suggest that patients who are clinically diagnosed with Knobloch syndrome and/or found to have COL18A1 mutations via genetic screening should be investigated for potential structural brain abnormalities even in the absence of encephaloceles. PMID:25456301

Surgical experience with arteriovenous malformations of the brain

International Nuclear Information System (INIS)

Stein, B.M.

1984-01-01

Personal experience with the treatment of 200 arteriovenous malformations of the brain seen during the past decade is presented. One hundred and twenty of these patients underwent surgery, with a mortality of 1,7%. The morbidity rate of 10% includes cases of hemianopia after occipital malformations had been removed. Significant morbidity, including aphasia, hemiparesis and hemisensory loss, occurred in under 10% of cases. Computerized tomography plays an important role in determining the relationships of the arteriovenous malformations to associated structures such as the ventricular system

Evaluación de la severidad, proporcionalidad y riesgo de muerte de recién nacidos de muy bajo peso con restricción del crecimiento fetal: análisis multicéntrico sudamericano An assessment of the severity, proportionality and risk of mortality of very low birth weight infants with fetal growth restriction: a multicenter South American analysis

Directory of Open Access Journals (Sweden)

Carlos Grandi

2005-06-01

Full Text Available OBJETIVOS: 1 evaluar la severidad y la proporcionalidad de los PEG para diferentes grados de prematurez; 2 estimar el riesgo de mortalidad de los PEG según la severidad y proporcionalidad. MATERIAL Y MÉTODOS: Diseño observacional y analítico. Población: todos los recién nacidos de muy bajo peso (RNMPB entre 25 y 36 semanas que mantiene el grupo NEOCOSUR (n = 1.518. Índices antropométricos: a peso de nacimiento (PN 0,55 y la transformación z del índice ponderal (Ponderal Index, PI = g/cm³ x 100. Restricción del crecimiento intrauterino (RCIU asimétrico: score z OBJECTIVES: To evaluate the clinical severity and proportionality of small for gestational age, very low birth weight neonates (< 1,500 g and to estimate the neonatal mortality risk associated with the condition of being small for gestational age according to the degree of severity and proportionality. METHODS: Observational design. All of the NEOCOSUR Collaborative Group's very low birth weight infants (25-36 weeks' gestation were included (n = 1,518. Anthropometric indices: birth weight < 3rd and 10th percentile. Severity (fetal growth ratio = observed weight/mean birth weight for gestational age; no growth restriction: fetal growth ratio 0.90-1.10, mild: fetal growth ratio 0.80-0.89, moderate: fetal growth ratio 0.75-0.79 and severe: fetal growth ratio < 0.75. Proportionality: coefficient of bimodality and z score for ponderal index (PI = g/cm³ *100. Neonatal mortality until discharge. RESULTS: < 3rd percentile: 13.5% (p < 0.001; < 10th percentile: 31% (p < 0.001; fetal growth ratio: 0.90±0.21 (p < 0.001, mild restriction: 20.8%, moderate restriction: 8.7% and severe restriction: 32.6%. Coefficient of bimodality: 0.53; PI z score < -1: 8%. Maternal hypertensive disease was systematically associated with being small for gestational age (aOR 1.20, 95% CI 0.86-1.67, fetal growth ratio < 0.89 (aOR 1.71, 1.24-2.36 and PI z score < -1 (aOR 1.60, 1.03-2.41. Adjusted odds ratios

Circulating cell-derived microparticles in severe preeclampsia and in fetal growth restriction.

Science.gov (United States)

Alijotas-Reig, Jaume; Palacio-Garcia, Carles; Farran-Codina, Immaculada; Ruiz-Romance, Mar; Llurba, Elisa; Vilardell-Tarres, Miquel

2012-02-01

The behavior of the circulating microparticles (cMP) in severe preeclampsia (PE) and fetal growth restriction (FGR) is disputed. METHOD OF STUDY  Non-matched case-control study. Seventy cases of severe PE/HELLP/FGR were compared to 38 healthy pregnant women. Twenty healthy non-pregnant women acted as a control. cMP were analyzed using flow cytometry. Results are given as total (annexin-A5-ANXA5+), platelet (CD41+), leukocyte (CD45+), endothelial (CD144+CD31+//CD41-), and CD41-negative cMP/μL of plasma. Antiphospholipid antibodies (aPL) were analyzed through usual methods. Platelet and endothelial cMP increased in healthy pregnant women. PE whole group (PE±FGR) showed an increase in endothelial and CD41-negative, but not in platelet-derived, cMP. Comparing PE whole group versus healthy pregnant, we found cMP levels of endothelial and CD41- had increased. The cMP results obtained in PE group were similar to those of the PE whole group. Comparing PE group to isolated FGR, significant CD41-negative cMP increase was found in PE. According to its aPL positivity, a trend to decrease in leukocyte and endothelial-derived cMP was found in PE group. Normal pregnancy is accompanied by endothelial and platelet cell activation. Endothelial cell activation has been shown in PE but not in isolated FGR. In PE, aPL may contribute to endothelial and possibly to leukocyte cell activation. © 2011 John Wiley & Sons A/S.

[Diagnostic value of high-resolution computed tomography imaging in congenital inner ear malformations].

Science.gov (United States)

Sun, Xiaowei; Ding, Yuanping; Zhang, Jianji; Chen, Ying; Xu, Anting; Dou, Fenfen; Zhang, Zihe

2007-02-01

To observe the inner ear structure with volume rendering (VR) reconstruction and to evaluate the role of high-resolution computed tomography (HRCT) in congenital inner ear malformations. HRCT scanning was performed in 10 patients (20 ears) without ear disease (control group) and 7 patients (11 ears) with inner ear malformations (IEM group) and the original data was processed with VR reconstruction. The inner ear osseous labyrinth structure in the images generated by these techniques was observed respectively in the normal ears and malformation ears. The inner ear osseous labyrinth structure and the relationship was displayed clearly in VR imaging in the control group,meanwhile, characters and degree of malformed structure were also displayed clearly in the IEA group. Of seven patients (11 ears) with congenital inner ear malformations, the axial, MPR and VR images can display the site and degree in 9 ears. VR images were superior to the axial images in displaying the malformations in 2 ears with the small lateral semicircular canal malformations. The malformations included Mondini deformity (7 ears), vestibular and semicircular canal malformations (3 ears), vestibular aqueduct dilate (7 ears, of which 6 ears accompanied by other malformations) , the internal auditory canal malformation (2 ears, all accompanied by other malformations). HRCT can display the normal structure of bone inner ear through high quality VR reconstructions. VR images can also display the site and degree of the malformations three-dimensionally and intuitively. HRCT is valuable in diagnosing the inner ear malformation.

Congenital spinal malformations; Kongenitale spinale Malformationen

Energy Technology Data Exchange (ETDEWEB)

Ertl-Wagner, B.B.; Reiser, M.F. [Klinikum Grosshadern, Ludwig-Maximilians-Univ. Muenchen (Germany). Inst. fuer Klinische Radiologie

2001-12-01

Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [German] Kongenitale spinale Malformationen stellen eine komplexe Gruppe an Stoerungen dar, deren Genese sich am einfachsten aus der Embryologie heraus erklaeren laesst. Bei der klinisch-radiologischen Begutachtung ist zunaechst ihre korrekte Klassifikation im Rahmen der Erstdiagnose wichtig. Im weiteren Verlauf ist es jedoch zudem entscheidend, moegliche Komplikationen wie beispielsweise eine Hydromyelie oder ein Wiederanheften des Myelons nach Operation einer Spina bifida aperta zu erkennen. Zudem sollte bei der Diagnosestellung einer kongenitalen spinalen Malformation immer auch auf assoziierte Fehlbildungen, wie z.B. die Diastematomyelie oder das intraspinale Lipom bei der Spina bifida aperta, sowie auf eine moegliche syndromale Einordnung wie beispielsweise beim OEIS-oder VACTERL-Syndrom geachtet werden. (orig.)

Therapies for neonates with congenital malformations admitted to a neonatal unit

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Maria Vera Lúcia Moreira Leitão Cardoso

2015-03-01

Full Text Available The aim of this study was to characterize the treatments applied to newborns with congenital malformation hospitalized in a neonatal unit and to identify whether there is an association among the treatments used and the type of malformation. A descriptive, prospective and quantitative study was developed in a public institution in Fortaleza, Ceará, Brazil. Data were collected using the medical records of 30 neonates with congenital malformations. The incidence of malformations was higher among females, regardless of the mother’s age, gestational age or weight at birth; malformations of the central nervous and musculoskeletal systems prevailed. The treatments used varied according to the clinical evolution of the neonate. The data collected did not present statistical significance when associated with the variable of congenital malformation and the treatments used (p>0.05. The treatments are not directly related to the type of malformation, but to the clinical condition of the neonate.

Vascular malformations in pediatrics; Vaskulaere Erkrankungen bei Neugeborenen, Saeuglingen und Kindern

Energy Technology Data Exchange (ETDEWEB)

Reith, W. [Abteilung fuer Neuroradiologie, Radiologische Universitaetsklinik Homburg/Saar (Germany); Abteilung fuer Neuroradiologie, Radiologische Universitaetsklinik, 66421, Homburg/Saar (Germany); Shamdeen, M.G. [Kinderklinik, Universitaetsklinikum Homburg/Saar (Germany)

2003-11-01

Vascular malformations are the cause of nearly all non-traumatic intracranial hemorrhage in children beyond the neonatal stage. Therefore, any child presenting with spontaneous intracranial hemorrhage should be evaluated for child abuse and for vascular malformations. Intracerebral malformations of the cerebral vasculature include vein of Galen malformations, arteriovenous malformation (AVM), cavernomas, dural arteriovenous fistulas, venous anomalies (DVA), and capillary teleangiectasies. Although a few familial vascular malformation have been reported, the majority are sporadic. Clinical symptoms, diagnostic and therapeutic options are discussed. (orig.) [German] Vaskulaere Malformationen sind die haeufigste Ursache einer intrakraniellen Blutung im Saeuglings- und Kindesalter. Deswegen sollte jedes Kind mit einer intrakraniellen Blutung auf eine vaskulaere Malformation und Kindesmisshandlung untersucht werden. Intrazerebrale Gefaessmalformationen beinhalten Vena-Galeni-Anomalien, arteriovenoese Malformationen (AVM), Kavernome, durale arteriovenoese Fisteln, kapillaere Teleangiektasien und venoese Anlagevarianten (DVA). Obwohl einige familiaere Gefaessmalformationen beschrieben sind, tritt die ueberwiegende Mehrzahl spontan auf. Die Klinik, Diagnostik und therapeutischen Optionen werden diskutiert. (orig.)

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

International Nuclear Information System (INIS)

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

1986-01-01

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

[Diagnosis and management of Mondini malformation].

Science.gov (United States)

Yang, W; Fang, Y; Yang, S

1997-02-01

Owing to the development of imaging technology and audiology, some of the sensorineural hearing loss cases that were previcusly considered to be of unknown cause have been found to be inner ear malformation. Five cases of Mondini malformation are reviewed in this paper. CSF otorhinorrhea occurred in four cases, Klippel-Feil syndrome in three, and concurrent otosclerosis in one patient. In discussion, the authors point out that: 1) CT scanning is an supplement to audiologic tests for such patients; 2) perilymph fistula in Mondini malformation is often found at the oval window and its vicinity, the foot plate and the round window; 3) the fistula can be treated by plugging with fascial tissue via tympanoplastic approach with endaural incision. The mucosa around the fistula should be stripped away and the plugging tissue should be of dumb-bell shape.

First report of microcephaly-capillary malformations syndrome in ...

African Journals Online (AJOL)

Background: Microcephaly-capillary malformation (MIC-CAP) syndrome is a newly described autosomal recessive syndrome characterized by microcephaly, multiple cutaneous capillary malformations, intractable epilepsy and profound developmental delay. We present the first description of MIC-CAP syndrome in Russia.

Anaesthetic management of a child with massive extracranial arteriovenous malformation

Directory of Open Access Journals (Sweden)

Faisal Shamim

2012-01-01

Full Text Available Vascular tumors affect the head and neck commonly but arteriovenous malformations are rare. Vascular malformations are often present at birth and grow with the patient, usually only becoming significant later in childhood. Embolization has been the mainstay of treatment in massive and complex arteriovenous malformations. We present a case of massive extracranial arteriovenous malformation in a 7-year-old boy causing significant workload on right heart and respiratory distress. The management of angioembolization under general anaesthesia and anaesthetic concerns are presented.

MRI of the fetal posterior fossa

Energy Technology Data Exchange (ETDEWEB)

Adamsbaum, Catherine; Andre, Christine; Merzoug, Valerie; Ferey, Solene [St Vincent de Paul Hospital, Department of Radiology, Paris Cedex 14 (France); Moutard, Marie Laure [St Vincent de Paul Hospital, Department of Neuropaediatrics, Paris (France); Quere, Marie Pierre [CHU, Department of Radiology, Nantes (France); Lewin, Fanny [St Vincent de Paul Hospital, Maternity Department, Paris (France); Fallet-Bianco, Catherine [Ste Anne Hospital, Department of Neuropathology, Paris (France)

2005-02-01

MRI is a useful tool to complement US for imaging of the fetal posterior fossa (PF). In France, the discovery of a PF malformation in the fetus frequently leads to termination of pregnancy (80% in a personal series). However, despite improved accuracy in the diagnosis of PF abnormalities, prognosis remains uncertain. The first objective of this review is to document the normal MRI landmarks of the developing fetal PF. Because of their thinness, the visibility of the cerebellar fissures is dramatically delayed on MRI compared to macroscopic data. An important landmark is identification of the primary fissure of the vermis, normally seen at around 25-26 weeks' gestation (WG) on the sagittal slice, separating the larger posterior lobe from the anterior lobe (volume ratio around 2:1). The prepyramidal and secondary fissures are usually only identifiable after 32 WG and the hemispheric fissures are difficult to see until the end of pregnancy. Considering the signal changes, high signal on T2-weighted (T2-W) sequences is seen from 25 WG in the posterior part of the brain stem (tegmentum and ascending sensory tracts) related to myelination. The low signal intensities seen within the cerebellum on T2-W images correspond to high cellularity of grey matter (deep nuclei), as there is no myelination within the white matter before 38 WG. The second objective is to highlight the signs highly predictive of a poor neurological prognosis. Lack of pontine curvature or vermian agenesis without a PF cyst (small volume of PF) is greatly associated with poor neurological status. The third objective is to propose a diagnostic strategy in difficult cases where prognosis is important, e.g. the Dandy Walker continuum. (orig.)

MRI of the fetal posterior fossa

International Nuclear Information System (INIS)

Adamsbaum, Catherine; Andre, Christine; Merzoug, Valerie; Ferey, Solene; Moutard, Marie Laure; Quere, Marie Pierre; Lewin, Fanny; Fallet-Bianco, Catherine

2005-01-01

MRI is a useful tool to complement US for imaging of the fetal posterior fossa (PF). In France, the discovery of a PF malformation in the fetus frequently leads to termination of pregnancy (80% in a personal series). However, despite improved accuracy in the diagnosis of PF abnormalities, prognosis remains uncertain. The first objective of this review is to document the normal MRI landmarks of the developing fetal PF. Because of their thinness, the visibility of the cerebellar fissures is dramatically delayed on MRI compared to macroscopic data. An important landmark is identification of the primary fissure of the vermis, normally seen at around 25-26 weeks' gestation (WG) on the sagittal slice, separating the larger posterior lobe from the anterior lobe (volume ratio around 2:1). The prepyramidal and secondary fissures are usually only identifiable after 32 WG and the hemispheric fissures are difficult to see until the end of pregnancy. Considering the signal changes, high signal on T2-weighted (T2-W) sequences is seen from 25 WG in the posterior part of the brain stem (tegmentum and ascending sensory tracts) related to myelination. The low signal intensities seen within the cerebellum on T2-W images correspond to high cellularity of grey matter (deep nuclei), as there is no myelination within the white matter before 38 WG. The second objective is to highlight the signs highly predictive of a poor neurological prognosis. Lack of pontine curvature or vermian agenesis without a PF cyst (small volume of PF) is greatly associated with poor neurological status. The third objective is to propose a diagnostic strategy in difficult cases where prognosis is important, e.g. the Dandy Walker continuum. (orig.)

Evolving changes in fetal heart rate variability and brain injury after hypoxia-ischaemia in preterm fetal sheep.

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Yamaguchi, Kyohei; Lear, Christopher A; Beacom, Michael J; Ikeda, Tomoaki; Gunn, Alistair J; Bennet, Laura

2018-01-08

Fetal heart rate variability is a critical index of fetal wellbeing. Suppression of heart rate variability may provide prognostic information on the risk of hypoxic-ischaemic brain injury after birth. In the present study, we report the evolution of fetal heart rate variability after both mild and severe hypoxia-ischaemia. Both mild and severe hypoxia-ischaemia were associated with an initial, brief suppression of multiple measures of heart rate variability. This was followed by normal or increased levels of heart rate variability during the latent phase of injury. Severe hypoxia-ischaemia was subsequently associated with the prolonged suppression of measures of heart rate variability during the secondary phase of injury, which is the period of time when brain injury is no longer treatable. These findings suggest that a biphasic pattern of heart rate variability may be an early marker of brain injury when treatment or intervention is probably most effective. Hypoxia-ischaemia (HI) is a major contributor to preterm brain injury, although there are currently no reliable biomarkers for identifying infants who are at risk. We tested the hypothesis that fetal heart rate (FHR) and FHR variability (FHRV) would identify evolving brain injury after HI. Fetal sheep at 0.7 of gestation were subjected to either 15 (n = 10) or 25 min (n = 17) of complete umbilical cord occlusion or sham occlusion (n = 12). FHR and four measures of FHRV [short-term variation, long-term variation, standard deviation of normal to normal R-R intervals (SDNN), root mean square of successive differences) were assessed until 72 h after HI. All measures of FHRV were suppressed for the first 3-4 h in the 15 min group and 1-2 h in the 25 min group. Measures of FHRV recovered to control levels by 4 h in the 15 min group, whereas the 25 min group showed tachycardia and an increase in short-term variation and SDNN from 4 to 6 h after occlusion. The measures of FHRV then progressively

Fetal stroke and congenital parvovirus B19 infection complicated by activated protein C resistance

NARCIS (Netherlands)

de Haan, Timo R.; van Wezel-Meijler, Gerda; Beersma, Matthias F. C.; Von Lindern, Jeanette S.; van Duinen, Sjoerd G.; Walther, Frans J.

2006-01-01

Parvovirus B19 infection in gestation has been associated with severe fetal complications such as anaemia, hydrops and fetal demise. Fetal infection in the first trimester poses the greatest risk for these complications, but infection during the third trimester is more common than previously

Lamb congenital lymphatic malformation - a case report

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Neria Santos

2014-01-01

Full Text Available Lymphatic malformations have been rarely reported in literature either in humans or in animals. However, in recent years, concern about these malformations in humans has increased. A five-month-old Rasa Aragonesa male lamb was received at the Ovine Clinical Service of the Veterinary Faculty of Zaragoza, Spain, with a history of cervical protuberances coming from birth. The lamb showed three round swollen lumps (5–12 cm in diameter parallel to the trachea on the left side of the neck. Clinical examination, haematology, ultrasonography, fluid examination and histopathology were performed. No abnormalities were found in blood samples and ultrasound confirmed a multicystic lesion with internal separations. Histological evaluation of the tissue revealed dilated lymphatic vessels and channels in the dermis and hypodermis; some lymphatic vessels were filled with amorphous proteinaceous material and occasional lymphocytes and macrophages. These protuberances were diagnosed as congenital lymphatic malformations. Most of the gross and microscopical lesions were very similar to those described in humans. To the authors’ knowledge, this is the first time that a congenital lymphatic malformation is described in sheep.

Pregnancies and Fetal Anomalies Incompatible with Life in Chile: Arguments and Experiences in Advocating for Legal Reform.

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Casas, Lidia; Vivaldi, Lieta

2017-06-01

Chile allows abortion under no circumstances. Whether it's fetal anomaly incompatible with life or congenital malformation resulting in little or no life expectancy, all Chilean women are expected to carry their pregnancies to term. In this context, in January 2015 the Chilean Congress began debating a bill to legalize abortion on three grounds, including fatal congenital malformation. The medical community, including midwives, has presented its views for and against, especially on how the law may affect clinical practices; in addition, women, many of whom have experienced a fatal congenital malformation diagnosis, have weighed in. This qualitative study draws on 22 semi-structured interviews with nine certified nurse-midwives, one neonatologist, nine obstetrician-gynecologists, one psychiatrist, one psychologist, and one sociologist who provide care during gestation, pregnancy, delivery, and post-delivery in the public and private sectors, plus three interviews with two women and the former partner of a woman who underwent the experience. These interviews starkly illustrate the plight facing women carrying nonviable fetuses, including women's shock upon receiving the diagnosis, their feelings of bereavement and loss, and the clinical practices used in an attempt to ease their suffering under the weight of exceedingly difficult legal restrictions. These interviews confirmed that compelling women to carry nonviable fetuses to term violates their human rights. They also show that the chances of legislative change are real and that such change will present new challenges to the Chilean health care system.

Lower placental growth factor and higher free β-hCG and PAPP-A levels in the fetal circulation of near-term pregnancies complicated with severe preeclampsia.

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Paredes, Verónica; Espinoza-Caicedo, Jasson A; Salazar-Pousada, Danny; Escobar, Gustavo S; Pérez-López, Faustino R; Chedraui, Peter

2017-01-01

An imbalance between anti- and angiogenic factors during early placentation is key for the development of preeclampsia. Nevertheless, the majority of studies addressing this issue relate to maternal blood and not the fetal circulation. To measure placental growth factor (PlGF), free beta human chorionic gonadotropin (β-hCG), and pregnancy-associated plasma protein-A (PAPP-A) levels in the fetal circulation of near-term pregnancies complicated with severe preeclampsia (n = 20), and their controls matched for parity, and maternal and gestational age. Upon delivery, a blood sample was withdrawn from the umbilical artery and vein of each case and its control in order to measure the proposed analytes using direct fluoroimmunoassay. Preeclampsia cases showed significantly lower median PlGF levels in fetal circulation as compared to controls (25.2 versus 36.9 and 23.6 versus 33.9 pg/mL, artery and vein, respectively, p < 0.05). Contrarily, cases displayed higher concentrations of PAPP-A (1024.0 versus 720.9 [median] and 1027.0 ± 298.4 versus 690.3 ± 401.9 mIU/L, artery and vein, respectively, p < 0.05), and free β-hCG (mean: 33.9 ± 4.3 versus 17.2 ± 4.0 and 30.1 ± 5.2 versus 13.7 ± 3.3 ng/mL, artery, and vein respectively, p < 0.05). Lower PlGF and higher PAPP-A and free β-hCG levels were found in the fetal circulation of near-term severe preeclamptic pregnancies. There is a need for more research in this regard.

Fetal behavioral teratology.

Science.gov (United States)

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

2010-10-01

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

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

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

2009-01-01

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

Mortality among infants with congenital malformations, New York State, 1983 to 1988.

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Druschel, C; Hughes, J P; Olsen, C

1996-01-01

OBJECTIVE. The authors examined first-year mortality and risk factors for mortality among infants with major congenital malformations. METHODS. Infants with major congenital malformations born from 1983 to 1988 were identified from a statewide population-based congenital malformations registry. Variables analyzed included year of birth, birth weight, gestational age, infant sex, number of malformations, number of organ systems involved, level of care of the birth hospital, maternal age, maternal education, and maternal ethnicity. RESULTS. Infants with major malformations had a risk of death 6.3 times higher than the general population of live births. The risk declined from 6.5 in 1983 to 5.9 in 1988. Birth weight and number of malformations were the strongest risk factors. The likelihood of survival was similar for white and black infants. CONCLUSIONS. Being born with a malformation outweighs most of the other risks for infant mortality. Children with congenital malformations had higher cause-specific mortality for all causes except injury. PMID:8711105

Undetected Severe Fetal Myelosuppression following Administration of High-Dose Cytarabine for Acute Myeloid Leukemia: Is More Frequent Surveillance Necessary?

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Jessica Parrott

2017-01-01

Full Text Available Background. Cytarabine use during pregnancy carries a 5–7% risk of neonatal cytopenia. We report two cases of fetal myelosuppression following high-dose cytarabine administration for acute myeloid leukemia (AML. Case 1. A 36-year-old G9P6 diagnosed with AML at 21 weeks was monitored for fetal anemia weekly and growth monthly. At 33 weeks (after 2 cycles, BPP was 2/10 and MCA PSV was elevated at 1.51 MoM. Urgent cesarean section was performed. The infant had an initial pH of 6.78 and pancytopenia (hematocrit 13.3%, platelets 3 K/UL, and white blood cell count 2.0 K/UL. Initially transfusion dependent, the neonate had count recovery by 3 weeks. Case 2. A 30-year-old G4P3 with AML at 26 weeks was monitored for fetal anemia twice weekly and growth monthly. At 34 weeks (after cycle 1, she was admitted with neutropenic fever. The fetal MCA PSV was borderline at 1.48 MoM. It improved to 1.38 MoM at 35 weeks but the fetal tracing worsened. At delivery the fetus was found to have a hematocrit of 30%, but with normal platelet and WBC. The fetus did not require any transfusions. Conclusion. Cytarabine use during pregnancy may cause neonatal myelosuppression. We recommend monitoring for fetal anemia with MCA Dopplers twice weekly.

Detecting congenital malformations - Lessons learned from the Mpepu study, Botswana.

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Gbolahan Ajibola

Full Text Available A large and increasing number of HIV-infected women are conceiving on antiretroviral treatment (ART. While most antiretrovirals are considered safe in pregnancy, monitoring for rare pregnancy and infant adverse outcomes is warranted.We conducted a retrospective secondary analysis nested within a clinical trial of infant cotrimoxazole vs. placebo prophylaxis in Botswana (the Mpepu Study. Infants were examined at birth, and at least every 3 months through 18 months of age. Abnormal physical findings and diagnostic testing revealing malformations were documented. Post hoc, a geneticist classified all reported malformations based on available documentation. Structural malformations with surgical, medical or cosmetic importance were classified as major malformations. We present a descriptive analysis of identified malformations.Between 2011 and 2014, 2,933 HIV-infected women who enrolled in the Mpepu study delivered 2,971 live-born infants. Study staff conducted 2,944 (99% newborn exams. One thousand eighty-eight (38% women were taking ART at conception; 1,147 (40% started ART during pregnancy; 442 (15% received zidovudine monotherapy; and 223 (7% received no antiretroviral during pregnancy. Of 33 reported anomalies, 25 (76% met congenital malformations criteria, 10 (30% were classified as major malformations, 4 (40% of which were identified after the birth exam.Our results highlight the importance of staff training on identification of congenital malformations, programmatic monitoring beyond the birth examination and the value of geneticist involvement in the malformations classification process in resource-limited settings. These elements will be important to fully define antiretroviral drug safety in pregnancy.Surveillance systems for monitoring the safety of antiretroviral use during pregnancy among HIV-infected women in resource-limited setting are lacking. The World Health Organization's published programmatic recommendations for such

Gestational Age Estimation Based on Fetal Pelvimetry on Fetal Ultrasound in Iraqi Women

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Sattar Razzaq Al-Esawi

2016-08-01

Full Text Available Ultrasound is an integral part of obstetric practice, and assessment of gestational age (GA is a central element of obstetric ultrasonography. Sonographic estimation of GA is derived from calculations based on fetal measurements. Numerous equations for GA calculation from fetal biometry have been adopted in routine practice. This study reports a new method of estimating GA in the second and third trimester using interischial distance (IID, the distance between the two ischial primary ossification centers, on fetal ultrasound. Four hundred women with uncomplicated normal singleton pregnancies from 16 weeks to term were examined. Standard fetal obstetric ultrasound was done measuring biparietal diameter (BPD and femur length (FL for each fetus. The IID, in millimeters, was correlated with the GA in weeks based upon the BPD and FL individually, and the BPD and FL together. Statistical analysis showed strong correlation between the IID and GA calculated from the FL with correlation coefficient (r =0.989, P < 0.001. Strong linear correlation was also found between the IID and GA based upon BPD and BPD+FL. Further statistical analysis using regression equations also showed that the IID was slightly wider in female fetuses, but this difference was not statistically significant. Resulting from this analysis, we have arrived at an easy-to-use equation: GA Weeks = (IID mm + 8 ±1 week. We feel this method can be especially applicable in the developing world, where midwives may not have access to software for fetal biometry in their basic handheld ultrasound machines. Even more sophisticated machines may not come with loaded software for obstetrics analysis. There are several limitations to this study, discussed below. We recommend further studies correlating the IID with other biometric parameters.

The effect of intermittent dosing of Nicotiana glauca on teratogenesis in goats.

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Welch, K D; Panter, K E; Lee, S T; Gardner, D R

2015-01-01

Sustained inhibition of fetal movement in livestock species, induced by several poisonous plants, can result in numerous skeletal-contracture malformations. Lupines are responsible for a condition in cattle referred to as "crooked calf syndrome" that occurs when pregnant cattle graze teratogenic lupines. Similar malformations are also seen in animals poisoned by Conium maculatum (coniine) and Nicotiana glauca (anabasine). A proposed management strategy to limit these types of birth defects includes utilizing an intermittent grazing schedule to allow short durations of grazing lupine-infested areas interrupted by movement to a lupine-free pasture. The objective of this study was to use a goat model to determine if an intermittent schedule of five continuous days on treatment followed by two days off treatment would be sufficient to decrease, or prevent, the incidence of anabasine-induced malformations. The data from this study suggest that, for N. glauca in goats, the intermittent grazing program of five days exposure with two days of non-exposure is insufficient to prevent significant skeletal malformations from occurring. However, this study did demonstrate an inverse relationship between the amount of serum anabasine in the dam and the extent of fetal movement. Published by Elsevier Ltd.

Arteriovenous Malformation of the Pancreas

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Alexandros Charalabopoulos

2011-01-01

Full Text Available Pancreatic arteriovenous malformation (PAVM is a very rare and mostly congenital lesion, with less than 80 cases described in the English-published literature. It is defined as a tumorous vascular abnormality that is constructed between an anomalous bypass anastomosis of the arterial and venous networks within the pancreas. It represents about 5% of all arteriovenous malformations found in the gastrointestinal tract. Herein, we present a 64-year-old patient with symptomatic PAVM involving the body and tail of the organ, which was successfully treated by transcatheter arterial embolization. The disease spectrum and review of the literature are also presented.

Noninvasive fetal RhD genotyping

DEFF Research Database (Denmark)

Clausen, Frederik Banch; Damkjær, Merete Berthu; Dziegiel, Morten Hanefeld

2014-01-01

Immunization against RhD is the major cause of hemolytic disease of the fetus and newborn (HDFN), which causes fetal or neonatal death. The introduction of postnatal immune prophylaxis in the 1960s drastically reduced immunization incidents in pregnant, D-negative women. In several countries, ant...

Clinical and Genetic Studies in Inherited Cardiovascular Malformations

NARCIS (Netherlands)

I.M.B.H. van de Laar (Ingrid)

2012-01-01

textabstractCardiovascular malformations comprise a broad spectrum of anomalies of the heart and blood vessels, including congenital heart malformations (CHM) and aortic aneurysms, the two main topics of this thesis. These conditions lead to significant morbidity and mortality both in infancy and

Congenital pseudoarthrosis associated with venous malformation

International Nuclear Information System (INIS)

Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N.; Hamamy, H.; Al-Hadidi, S.

2007-01-01

Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)