Birth Defects Research


Hereditary Factors in Irish Families with Neural Tube Defects: A study of families where a child has been born with a neural tube defect (NTD, including spina bifida).
  • Phase I, Nuclear Families: From 1995 to 2003, 79 Irish families were interviewed about their own health, their pregnancies and the health of their offspring.
  • Phase II, Uncles and Aunts: From 2000 to 2002, 378 uncles and aunts in these same families were interviewed about their own health and the health of their offspring (first cousins).
  • Phase III, First Cousins: From 2002 to 2004, 431 first cousins were interviewed about their own health and the health of their offspring (first cousins once removed).
  • Phase IV, Siblings: In 2006, currently underway, an interview project to determine rates of birth defects self-reported by siblings and to determine rates of adverse pregnancy outcomes and birth defects to their offspring—the nieces and nephews of the probands. 120 of a possible 150 siblings interviewed to date.

Italian Families with Spina Bifida: A collaboration with the G. Gaslini Children’s Hospital in Genoa, Italy.

North Eastern Pregnancy and Health Study: A 1993 survey of 100 local women to determine background rates of fertility and pregnancy issues. This study represents normal women in the population and serves as a reference group for the NTD projects.