All about noninvasive prenatal testing (NIPT)

As expectant parents, making informed decisions about your baby's health is paramount. Non-invasive prenatal testing (NIPT) is an advanced screening method that can provide valuable insights during pregnancy.

In his latest online article, Mr Keith Duncan aims to explain what NIPT is, how it works, and its benefits and limitations.

What is NIPT?

Non-invasive prenatal testing, often abbreviated as NIPT, is a screening test performed during pregnancy to assess the risk of certain genetic conditions in the developing baby. Unlike traditional diagnostic tests such as amniocentesis, which require inserting a needle into the uterus, NIPT is non-invasive. This means it poses no risk to the baby because it only requires a small sample of the mother's blood.

How does NIPT work?

NIPT analyses fragments of fetal DNA that circulate in the mother's bloodstream. This fetal DNA comes from the placenta, which shares the baby's genetic material. By examining this DNA, NIPT can screen for common chromosomal abnormalities such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). Typically, NIPT is performed after the 10th week of pregnancy. The process involves drawing a blood sample from the mother, which is then sent to a laboratory for analysis. The results typically become available within one to two weeks.

Benefits of NIPT

One of the primary advantages of NIPT is its non-invasive nature, which eliminates the risk of miscarriage associated with invasive procedures like amniocentesis. Additionally, NIPT has a high degree of accuracy, particularly for detecting Down syndrome, with detection rates exceeding 99 per cent. This makes it a reliable option for early screening. NIPT can also provide peace of mind to expectant parents, offering early insights into the baby's health and allowing for better planning and decision-making.

Limitations and considerations

While NIPT is a powerful tool, it is important to understand its limitations. NIPT serves as a screening test rather than a diagnostic test. This means it can indicate whether there is a higher or lower risk of certain conditions, but it cannot provide a definitive diagnosis. If NIPT results suggest a potential issue, further diagnostic testing, such as amniocentesis or chorionic villus sampling (CVS), may be recommended to confirm the findings.

Additionally, NIPT primarily screens for a limited number of chromosomal abnormalities. It does not detect all genetic conditions or birth defects. Therefore, it is often used in conjunction with other prenatal screenings and diagnostic tests to provide a comprehensive picture of the baby's health.

Who should consider NIPT?

NIPT is available to all pregnant women, but it is particularly recommended for those at higher risk of chromosomal abnormalities. This includes women who are 35 years or older, have a family history of genetic conditions, or have had abnormal results from other prenatal screenings.

If you have questions about whether NIPT is right for you, discuss it with your healthcare provider. They can help you understand the benefits and limitations in the context of your specific situation and guide you in making an informed decision.

Mr Keith Duncan is an esteemed obstetrician. You can schedule an appointment with Mr Duncan on his Top Doctors profile.