What is the recurrence risk for neural tube defects (NTDs)?

The recurrence risk for neural tube defects (NTDs) in families with a previous affected pregnancy is generally considered to be around 2-3%. This percentage is based on population studies and the understanding of the multifactorial inheritance pattern of NTDs.

Neural tube defects, such as spina bifida and anencephaly, are congenital malformations that occur when the neural tube does not close properly during embryonic development. A family history of NTDs increases the likelihood of recurrence in subsequent pregnancies due to a combination of genetic and environmental factors that contribute to their occurrence.

While some sources might reference a lower or higher percentage for different risk scenarios, the consensus among genetic counselors and researchers is that the recurrence risk of 2-3% is the most widely accepted figure for those with a previous history of NTDs. This understanding helps in the counseling process for families who have experienced an NTD and are considering future pregnancies, allowing them to make informed decisions based on their specific circumstances and potential risks.