Amniocentesis

Amniocentesis is an invasive prenatal diagnostic test typically performed between 17 and 20 weeks of pregnancy, though it may be done later if medically indicated. When performed during the optimal time frame, the risks—including miscarriage, infection, injury, or preterm labor—are considered low.

During the procedure, a thin needle is inserted through the abdomen to withdraw a small amount of amniotic fluid from the sac surrounding the baby. Ultrasound guidance is used at all times to ensure safety and proper positioning. The procedure usually takes only a few minutes. Most patients describe the sensation as mild pressure, although some may experience temporary cramping. Any discomfort typically resolves within a few hours.

Results from amniocentesis are highly accurate—nearly 100% reliable—for chromosome analysis. In rare cases, technical factors may affect sample quality. Results are generally available within 7–10 days. Following the procedure, we recommend resting for the remainder of the day. Normal activities may be resumed the next day unless otherwise advised by your healthcare provider.

Amniocentesis may be recommended if:

• The mother is age 35 or older

• A prenatal screening test indicates an increased risk

• An abnormality is detected on ultrasound

• There is a known inherited or genetic condition in the family

Amniocentesis is most commonly used to diagnose chromosome conditions such as Down syndrome (trisomy 21), trisomy 18, and trisomy 13. If indicated, testing can be expanded to evaluate for additional conditions, including spina bifida and other neural tube defects, cystic fibrosis, sickle cell disease, Tay-Sachs disease, spinal muscular atrophy, fragile X syndrome, hemophilia, and many more.

Patients also have the option to request chromosomal microarray analysis or whole genome sequencing, which can detect hundreds of additional genetic variations not identified through standard testing. Visit https://www.mytestingoptions.com for more information.