Key Findings from Recent Birth Defects and Pediatric Genetics Projects

Scientists in the Birth Defects and Pediatric Genetics use epidemiologic research to learn more about the causes of birth defects. Epidemiology is the study of the distribution and causes of diseases and health outcomes in the human population. The goal of birth defects epidemiology is to describe the frequency and pattern of the occurrence of birth defects, identify causes that may explain the occurrence of birth defects, and ultimately to prevent or reduce the occurrence of birth defects. Click on the links below to learn more about some recently completed projects from our branch.

General Birth Defects

• Accutane®-exposed Pregnancies

• Left and Right Sides of the Body Are Differentially Susceptible to Birth Defects 
  

• Medical Progress in the Prevention of Neural Tube Defects
  

• Trends and patterns of birth defects and genetic diseases associated mortality in United States, 1979-1992: An analysis of multiple-cause mortality data

Specific Birth Defects

• Association between Maternal Smoking and Craniosynostosis

• International Trends in Rates of Hypospadias and Cryptorchidism

• Pyloric Stenosis Linked to Oral Erythromycin Use in Newborns

• Risk Factors for Down Syndrome (Trisomy 21): Maternal Cigarette Smoking and Oral Contraceptive Use in a Population-Based Case-Control Study

• Use of Folic Acid Alone to Prevent Neural Tube Defects

Review Articles

• Review of the NF1 Gene and Neurofibromatosis 1

• Review of Methylene Blue Dye and Intestinal Atresia

• Review of MTHFR Gene Variants and Birth Defects

Click on the link below to go to the full listing of scientific publications since 1990 from the center.

Scientific Publications (by author)