Prenatal exposure to alcohol has profound effects on many aspects of fetal development. Although alterations of somatic growth and specific minor malformations of facial structure are most characteristic, the effects of alcohol on brain development are most significant in that they lead to substantial problems with neurobehavioral development. Since the initial recognition of the fetal alcohol ...

Neural tube defects (NTDs) in Hawaii between 1986 and 1997 were examined using data from a statewide birth defects surveillance system. The prevalence increased significantly over the twelve-year period. NTD prevalence did not appear to vary by place of residence. The relationship of type of defect, maternal age, and infant/fetus sex was similar to that reported in the literature.

OBJECTIVE To determine the association between some major structural abnormalities detected prenatally by ultrasound and chromosomal abnormalities. MATERIAL AND METHODS The present study was a retrolective, transversal study. We analyzed case records of patients during the fetal follow-up at the Department of Maternal Fetal Medicine from January 1994 to May 2010 to identify fetal patients wit...

Clinical fetal heart failure occurs in conditions associated with increasing left and right atrial filling and/or central venous pressures and manifests as right heart failure with the development of pericardial and pleural effusions, ascites and peripheral and placental edema. Fetal heart failure may occur in primary myocardial disease, in presence of the extracardiac pathology impacting the l...

Major fetal malformation affects approximately 3% of births and is leading cause of perinatal morbidity and mortality. Some of these conditions are incompatible with long-term postnatal survival and hence warrants preventive measures by introducing second trimester prenatal ultrasound. Prenatal ultrasound has become an essential practice of antenatal care in urban India. Although the vast major...

BACKGROUND Congenital heart defects (CHDs) are the most common fetal defects and the most important cause of child mortality and morbidity. OBJECTIVE To investigate the association between growth/differentiation factor 1 (GDF1) polymorphisms and fetal CHDs, by evaluating the association of GDF1 rs4808863 with fetal CHDs. DESIGN A case-control study. SETTING Beijing, China. PARTICIPANTS ...

OBJECTIVES This study was carried out to determine the feasibility of defining the position of the right subclavian artery (RSA) by fetal echocardiography between 16 and 23 weeks of gestation, and the association between an aberrant right subclavian artery (ARSA) and chromosomal and cardiac defects. METHODS We examined the position of the RSA in all patients who attended our unit for a fetal ...

Congenital/fetal malformations are structural, functional, and/or biochemical molecular defects present at birth. Prevalence of congenital fetal anomalies in developing countries 2 to 3% newborns and about 94% severe birth defects. Acrania is a lethal malformation characterized by partial or complete absence flat bones cranial vault. Another anomaly, omphalocele, ventral defect the umbilical ri...

We report a three-year-old male child who presented with congenital valvular defects, right ventricular malformation, and initial developmental delay. Genome sequencing showed rare deleterious biallelic missense variants in PLD1. In his parents’ second pregnancy, echocardiogram at 13 weeks gestation revealed right-sided cardiac malformations resembling the clinical presentation of family...

The phylogenetically conserved nuclear factor I (NFI) gene family encodes site-specific transcription factors essential for the development of a number of organ systems. We showed previously that Nfia-deficient mice exhibit agenesis of the corpus callosum and other forebrain defects, whereas Nfic-deficient mice have agenesis of molar tooth roots and severe incisor defects. Here we show that Nfi...