OBJECTIVE Congenital defects remain the second cause of perinatal and infant death and the third cause between the second and fifth years of life in Asturias. These anomalies generate substantial morbidity. The aim of the present study was to describe the population-based frequency of congenital defects in Asturias and their forms of presentation. METHODS Data from the population-based Regist...

Yuan SM. Congenital heart defects in Williams syndrome. Turk J Pediatr 2017; 59: 225-232. Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenge...

1. Account for the differences in the fetal circulation and the circulatory changes that occur at birth as they relate to the physical assessment of congenital heart defects. 2. Develop an understanding of the anatomy and physiology associated with uncorrected, palliated, and corrected congenital heart defects. 3. Design pharmacological treatment plans needed for preoperative, postoperative, an...

BACKGROUND Documenting the prevalence and trends of congenital heart defects provides useful data for pediatric practice, health-care planning, and causal research. Yet, most population-based studies use data from the 1970s and 1980s. We sought to extend into more recent years the study of temporal and racial variations of heart defects occurrence in a well-defined population. METHODS We used...

BACKGROUND The literature linking gestational smoking to congenital defects has been very inconsistent. The purpose of this study was to reinvestigate the relation between gestational smoking and congenital malformations. METHODS This study was a retrospective cohort (N = 18,016) of live births in the TriHealth Hospital system from 1 January 1998 to 31 December 1999. The cohort included 1,943...

Prenatal diagnosis with application of the Amniotic fluid (Amniocentesis: AC) and chorionic villi sampling {CVS) is a general aspect of application in Human Genetics which facilitate the diagnosis of different Genetic defects, enclosing chromosomal abnormalities and Genosomopathies. Diagnosis of Genetic defects for AC and CVS is between 16-20th and 8-12th weeks of gestation respectively. Allica...

BACKGROUND India lacks a national birth defects surveillance. Data on the prevalence of congenital anomalies are available mostly from hospital-based, cross-sectional studies. This is the first cohort study from India, where 2107 women were followed till pregnancy outcome, in order to measure the prevalence and types of congenital anomalies, their contribution to neonatal mortality, implication...

The authors investigated the possible association between a mother's nausea during pregnancy and her child's risk for a congenital heart defect using data from the population-based Atlanta Birth Defects Case-Control Study conducted in 1982-1983. Case infants (n = 998) had nonsyndromic congenital heart defects and control infants (n = 3,029) had no congenital defects. Nausea during pregnancy (NP...

congenital defects of the pericardium are considered rare. until 1979 , the reported cases were only about 200.1 total absence of the left pericardium is the most common defect2 and less common is a partial defect of the left pericardium. other types, i.e. isolated right-sided defects, total pericardial absence and diaphragmatic pericardial defects are very rare.3 before the last decade, the di...

OBJECTIVE To determine the accuracy of ultrasound in the diagnosis of congenital abnormalities at the Aga Khan University Hospital, Karachi. METHODS The data of congenital abnormalities was obtained from the obstetrical database and medical records of all cases complicated by congenital abnormalities, delivering from January 2001 to December 2003 and was reviewed. Antenatal ultrasounds had be...