What is amniocentesis?

Amniocentesis is a diagnostic test performed during pregnancy to examine amniotic fluid for signs of genetic abnormalities and chromosomal disorders such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). The procedure involves inserting a sterile needle through the mother's abdomen and uterine wall to withdraw a small sample of amniotic fluid, which is then analyzed in a laboratory.

The test is typically recommended for pregnant women who have abnormal results from non-invasive screening tests such as combined first-trimester screening, quad screening, or cell-free fetal DNA testing. It may also be offered when there is a family history of genetic conditions, advanced maternal age (typically 35 years or older), or when ultrasound findings raise concerns about fetal development.

Amniocentesis is usually performed in the second trimester, typically between 15 and 20 weeks of pregnancy. The procedure takes about 20 to 30 minutes, and results are generally available within one to two weeks. While it carries a small risk of miscarriage (less than 1 percent), it remains one of the most reliable methods for diagnosing chromosomal and genetic conditions before birth. Ultrasound guidance is used throughout the procedure to ensure accuracy and fetal safety.

Women considering amniocentesis should discuss the risks, benefits, and implications of potential results with their healthcare provider. High-risk pregnancy specialists and maternal-fetal medicine clinics in Kuala Lumpur can provide detailed counseling and perform the procedure.