You are currently viewing Non-invasive Prenatal Testing for Peace of Mind

Two medical experts share their insight into the importance of non-invasive prenatal testing for pregnant women.

They explain how it can help educate and empower pregnant women about the importance of prenatal care and early detection, especially in later-life pregnancies.

Non-invasive prenatal testing can detect rare genetic conditions, providing peace of mind to expecting parents. It is also of great benefit in twin pregnancies.

Globally, the past few years has seen a significant shift in the average age of first-time mothers. According to data published by the Organisation for Economic Co-operation and Development, many countries have seen the mean age at which women give birth increase to 30 and above. This “delayed motherhood” trend warrants more effective awareness campaigns to highlight both the benefits and potential risks associated with later-life pregnancies.

Read about the highs, lows, joys and anxiety of becoming a first-time mother.

the late baby boom

For many reasons, an increasing number of women are reviewing when they embark on motherhood. Some of the advantages of having a baby after the age of 30 are:

  • a greater likelihood of financial stability
  • more established relationships with a support system
  • better preparedness
  • greater emotional maturity.

There are, however, a few risks for both the mother and baby, which can be addressed by prenatal testing, early detection and medical intervention. Dr Liani Smit, a medical geneticist, explains: “The risk for some chromosomal conditions, such as Down syndrome, increases with maternal age, but chromosomal conditions can occur in any pregnancy. These conditions often have a significant impact on a baby’s health and development and, in some cases, life expectancy.”

However, Dr Smit states, armed with the right knowledge, parents can work with their antenatal healthcare practitioner to make informed decisions about managing the pregnancy to the optimal benefit of mother and baby.

Read our article on preparing for a newborn.

the role of prenatal testing

Pregnant women – especially in their first trimester – should get screened and tested for a range of conditions. To provide South African mothers with greater peace of mind, safe, non-invasive prenatal testing for expectant mothers is advised.

Non-invasive prenatal testing (NIPT) screens for common chromosomal conditions in the foetus, such as:

  • Down syndrome
  • Patau syndrome
  • Edwards syndrome,
  • sex chromosome aneuploidies (chromosomal conditions caused by the loss or gain of a sex chromosome)

Optional screening for up to five microdeletion syndromes that may be missed during routine prenatal screening is also available.

NIPT is designed to be as safe and accurate as possible. “It is based on a simple blood test from the pregnant woman and examines the genetic profile of the foetus(es) to understand the risks for specific genetic conditions from as early as nine weeks into pregnancy,” says Dr Smit.

an important branch of science for a healthier future

Dr Lindsay Petersen, general manager of Mediclinic Precise, Panorama NIPT, says: “Unique technology is used to analyse cell-free DNA fragments in the mother’s bloodstream and can differentiate which DNA fragments are maternal and foetal in origin. This data can be interpreted independently, leading to more accurate assessments.”

This technology is also substantially beneficial in the cases of twin pregnancies too.

She adds that optimising cutting-edge technologies, such as next generation sequencing, has several benefits. “We believe it will advance the use of precision medicine in South Africa. And, it will offer a better understanding of the role of genetic markers in certain diseases.”