Evaluation of the fetal heart at 11–13 + 6 weeks of gestation is indicated for women with a family history of congenital heart defects (CHD), a previous child with CDH, or an ultrasound finding associated with cardiac anomalies. The accuracy for early detection of CHD is highly related to the experience of the operator. The 4-chamber view and outflow tracts are the most important planes for ide...

Conotruncal heart defects (CTDs) are among the most severe birth defects worldwide. Studies of CTDs indicate both lifestyle behaviors and genetic variation contribute to the risk of CTDs. Based on a hybrid design using data from 616 case-parental and 1645 control-parental triads recruited for the National Birth Defects Prevention Study between 1997 and 2008, we investigated whether the occurren...

BACKGROUND Previously reported pathological series suggest that cardiac malformations are universal in trisomy 18. We examined our experience of fetal echocardiography in trisomy 18 for comparison. METHODS Of 255 fetuses with trisomy 18 detected in our centre between January 1999 and June 2004, 174 were evaluated using fetal echocardiography. Our results were compared to four previous echocar...

BACKGROUND Neural tube defects related to polygenic disorders are the second most common birth defects in the world, but no molecular biologic tests are available to analyze the genes involved in the pathomechanism of these disorders. We explored the use of routinely collected amniotic fluid to characterize the differential gene expression profiles of polygenic disorders. METHODS We used olig...

OBJECTIVE To examine the possible association between high fetal nuchal translucency thickness (NT) and pathogenic chromosomal copy number variants (CNVs) detected by array comparative genomic hybridization (CGH) in pregnancies with normal fetal karyotype. METHODS Array CGH was carried out in stored samples of chorionic villi from 215 singleton pregnancies resulting in live births in which ch...

Background: Alcohol is a potent teratogen and alcohol use in pregnancy and the periconception period can cause many complications in mother, fetus and neonate.  Discussion: Alcohol in the mother's blood passes through the placenta to the baby through the umbilical cord. Drinking alcohol during pregnancy can cause miscarriage, stillbirth, and a range of lifelong disorders. Alcohol-related birth ...

The chief obstetrical problems encountered today in the prenatal evaluation of the high-risk fetus are presented. Advantages and pitfalls or recent techniques utilized in the management of the high-risk pregnancy are discussed. They include: a prenatal scoring system for identifying the high-risk population; examination of the karyotype of cells in amniotic fluid, and quantitation of alpha-feto...

Mullerian duct anomalies (MDAs) are congenital defects of the female genital system that arise from the abnormal embryological development of the Mullerian ducts.1,2 These abnormalities include a wide range of developmental anomalies, resulting from failure of development, defective fusion or defects in regression of the septum during fetal development. A review of the prevalence of different t...

Fetal hydantoin syndrome (FHS) is a spectrum of defects caused to the developing fetus by exposure to the teratogenic effects of antiepileptic drug (AED) phenytoin during pregnancy. Its clinical manifestations include limb abnormalities, ocular defects, central nervous system anomalies, intrauterine growth restriction, and hand and phalangeal anomalies. This case report presents an 8-year-old c...

Development of the testis begins with the expression of the SRY gene in pre-Sertoli cells. Soon after, testis cords containing Sertoli and germ cells are formed and fetal Leydig cells subsequently develop in the interstitial space. Studies using knockout mice have indicated that multiple genes encoding growth factors and transcription factors are implicated in fetal Leydig cell differentiation....