Testing a blood test to detect genetic disorders before birth

This trial is testing a new non-invasive prenatal diagnosis (NIPD) blood test that can detect whether a fetus has inherited genetic disorders like cystic fibrosis, sickle cell disease, Duchenne muscular dystrophy, and others. Instead of requiring a needle procedure that carries a small miscarriage risk, this blood test analyzes tiny pieces of fetal DNA naturally present in the mother's bloodstream. The study aims to confirm that this test is accurate and reliable for families with a known history of these genetic conditions.

Current genetic testing during pregnancy requires invasive procedures like amniocentesis that carry a small risk of miscarriage. This trial exists to develop and validate a safer blood test that can provide definitive answers earlier in pregnancy, reducing both the physical risk and the emotional stress families face when there is a known genetic condition in their family.