BACKGROUND Over the past decade, the Internet has become a powerful and effective tool for public health surveillance. The objectives of this project were to develop secure Web-based applications for Birth Defects Surveillance and to integrate them into routine surveillance activities of the New York State (NYS) Congenital Malformations Registry (CMR). METHODS The Web-based applications were ...

The risk of birth defects is generally accredited with genetic factors, environmental causes, but the contribution of environmental factors to birth defects is still inconclusive. With the hypothesis of associations of geochemical features distribution and birth defects risk, we collected birth records and measured the chemical components in soil samples from a high prevalence area of birth def...

BACKGROUND Periconceptional use of folic acid can reduce a woman's risk of having a baby with a neural-tube defect and other congenital abnormalities. METHOD Case reports of babies OO both males, who were delivered at term by emergency caesarean section by a 21 year old woman. At birth, both twins had neural tube defects, bilateral talipes equinovarusdeformity, bladder and bowel dysfunction. ...

Results The mutation detected was a defect of the common gamma chain of the interleukin 2 receptor (IL2Rg). Even though genetic counseling advised otherwise the patient’s mother got pregnant during follow-up and as no compatible donor was found we chose to wait birth and verify compatibility. Genetic evaluation of the newborn revealed the absence of the IL2Rg gene defect in blood cord and a mat...

A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve ...

An omphalocele is one of the developmental anomalies of the abdominal wall. Incidence is 1.5-3 case per 10000 births. The abdominal viscera are surrounded by the Wharton jelly, peritoneum and amnion and contained in a translucent sac. The sac protrudes in the midline, through the umbilicus. Omphalocele is associated with additional anomalies in about 50-70% of cases. After the birth, defect is ...

Several investigators have stressed the importance of genetic factors in the aetiology of malformations of the central nervous system, and some have even advanced hypotheses describing the genetic mechanisms involved. Such hypotheses are speculative, and the role of environmental events should continue to receive evaluation. Association of characteristics of the offspring with birth order or wi...

INTRODUCTION To study characteristics of birth defect cases among live births, stillbirths and abortions in Singapore between 1994 and 2000. METHODS Index cases for the National Birth Defects Registry (NBDR) were obtained from all neonatal nurseries in Singapore, all hospital discharge summaries, cytogenetic and pathology reports from all pathology laboratories in Singapore, and from the comp...

Pentalogy of Cantrell is a syndrome that consists of five anomalies: a midline, upper abdominal wall abnormality; lower sternal defect; anterior diaphragmatic defect; diaphragmatic pericardial defect, and congenital abnormalities of the heart. The pathogenesis of this condition is not fully known yet, associations are common with this condition and treatment is extremely challenging. Prognosis ...

At birth an infant was found to have an unusual series of abnormalities with a coronary sinus type atrial septal defect complicating pulmonary atresia with an intact ventricular septum and Ebstein's anomaly. The functionally important anomalies were diagnosed by echocardiography and cardiac catheterisation. The coronary sinus defect and Ebstein's anomaly were detected only at necropsy. Although...