Expanded carrier screening is a blood test that looks at many genes at once to see whether someone carries a silent genetic change that could cause disease in a baby if both parents (or the mother, for some X‑linked conditions) are carriers. It focuses mainly on autosomal recessive and X‑linked recessive conditions, which often have serious health consequences for affected children.​ What is expanded carrier screening? For autosomal recessive conditions, the test looks at genes where a...

Amniocentesis can help check if a baby has caught certain infections in the womb, especially cytomegalovirus (CMV) and toxoplasmosis, which can sometimes affect the baby’s brain, eyes, hearing, or overall development.​ How common? CMV is one of the most common infections in pregnancy; about 1% of pregnant women experience a first-time CMV infection, and a proportion of these infections are passed to the baby.​ Toxoplasmosis in pregnancy is less common, with new infection in about 0.2% of...

Association between lower maternal choline levels and adverse pregnancy outcomes Observational data indicates that higher maternal choline levels are associated with reduced risk of adverse pregnancy outcomes, including neural tube defects, but causality is not fully established and further research is needed. However maternal choline level can only be measured under research settings, and not at the clinics. Based on such findings, major nutrition guidelines from the United States...