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Amniotic fluid analysis for
monogenic disorders

Amniotic fluid analysis for monogenic disorders involves testing fetal DNA in the amniotic fluid to detect single-gene genetic conditions. The process begins with amniocentesis, where a sample of amniotic fluid is collected during pregnancy. The fetal DNA extracted from the fluid is analyzed for mutations or abnormalities in specific genes responsible for inherited conditions. This test is typically used when there is a known family history of monogenic disorders, such as cystic fibrosis or sickle cell anemia. It provides a definitive diagnosis of whether the fetus carries or is affected by the disorder. The procedure is usually performed after the 15th week of pregnancy. Although highly accurate, it carries a small risk of miscarriage due to the invasive nature of the test. 

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