Amniocentesis is a prenatal diagnostic procedure that involves extracting a small amount of amniotic fluid from the uterus for testing. The amniotic fluid, which surrounds and protects the developing baby, contains fetal cells that can be analysed for genetic and chromosomal information. This procedure is typically performed between weeks 15 and 20 of pregnancy, though it may be done later in specific circumstances.
The procedure serves multiple diagnostic purposes, including the detection of chromosomal abnormalities such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). It can also identify neural tube defects, genetic disorders, and assess fetal lung maturity in later pregnancy. Amniocentesis can determine the baby’s sex with certainty, though this is typically a secondary finding rather than the primary reason for the test.
The accuracy of amniocentesis for detecting chromosomal abnormalities exceeds 99%, making it one of the most reliable prenatal diagnostic tools available. While the test can identify many conditions, it cannot detect all birth defects or developmental issues.