Is it necessary to undergo amniocentesis if the non-invasive test indicates low risk?

Jul 18, 2024 Source: Cainiu Health
Disease description:

Since the pregnancy was unplanned and I consumed alcohol previously, I was concerned about the baby's health, so I underwent non-invasive prenatal testing (NIPT), which showed a low-risk result. However, my doctor advised me to undergo amniocentesis as it has higher accuracy. I would like to ask, is it still necessary to have amniocentesis if the NIPT result is low-risk?

Doctor's answer (1)
Dr. Zhang Lu

Non-invasive prenatal testing (NIPT) is generally considered low-risk and typically does not require amniocentesis.

NIPT is a highly accurate method of prenatal screening that mainly involves drawing maternal peripheral blood to extract fetal cell-free DNA for assessing the risk of fetal chromosomal aneuploidies, such as trisomy 21, trisomy 18, and trisomy 13, with a detection rate as high as 99.9%. When NIPT results indicate a low risk, it suggests a low probability of the fetus having chromosomal abnormalities. Therefore, if fetal development is normal and ultrasound examinations show no abnormalities, amniocentesis is generally not necessary.

However, if the pregnant woman is of advanced maternal age, has a family history of chromosomal genetic disorders, or presents other high-risk factors, amniocentesis may still be recommended under a physician's guidance to obtain a more accurate assessment of the fetus's genetic status, even if NIPT results show low risk.