Non-invasive prenatal testing offers peace of mind

Globally, the past few years have seen a significant shift in the average age of first-time mothers. According to data published by the Organization 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.

The late baby boom: pros and cons

For many reasons, an increasing number of women are reviewing their decisions on motherhood within the broader context of their financial and career goals, their personal ambitions and the increasing cost of living. Some significant advantages of having a baby after the age of 30 is a greater likelihood of financial stability, more established relationships with a support system, better preparedness and greater emotional maturity.

There are, however, a few risks for both the mother and baby of which women need to be aware – which can be addressed by early detection and medical intervention. Commenting on this is Dr Liani Smit, medical geneticist working with Mediclinic Precise.

As she explains: “Chromosomal abnormalities are common and can occur in up to 1 in 150 live births. 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.” 

In Dr Smit’s opinion, having a clear understanding about the risks that come with the possibility of an underlying chromosomal condition early in pregnancy can be immensely empowering for expecting mothers. Armed with the right knowledge, parents can work with their antenatal healthcare practitioner to make informed decisions about managing the pregnancy in a way that is optimally beneficial for mother and baby.

The role of prenatal testing

Encouraging pregnant women – especially in their first trimester – to get screened and tested for a range of conditions is Mediclinic Southern Africa’s main message.

Furthermore, in a bid to provide South African mothers with greater peace of mind, Mediclinic launched its own system of safe, non-invasive prenatal testing (NIPT) for expectant mothers last year, as part of its DNA-based diagnostic and clinical interpretation services.

As Dr Smit explains, the Mediclinic Precise Panorama 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) and optional screening for up to five microdeletion syndromes that may be missed during routine prenatal screening.

In what can already be a stressful journey for parents-to-be, especially those who become pregnant later in life, she emphasises that NIPT is designed to be as safe and accurate as possible.

“NIPT is based on a simple blood test from the pregnant woman which examines the genetic profile of the foetus (or multiple foetuses) to understand the risks for specific genetic conditions from as early as nine weeks into pregnancy.

“At Mediclinic, we encourage expectant parents to be screened for genetic conditions during their pregnancy, so that they are armed with the necessary insights to discuss their options, possible risks, implications as well as potential outcomes with their respective healthcare practitioners.”

According to Dr Lindsay Petersen, general manager of Mediclinic Precise, Panorama NIPT uses unique technology 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.

The Panorama NIPT is the only offering available on the market to do this and can also detect certain rare genetic conditions that other NIPTs cannot. This includes cases such as triploidy, where a foetus has a complete extra set of chromosomes in their cells, meaning they have 69 chromosomes instead of the standard 46. 

An important branch of science for a healthier future

“In collaboration with the patient’s doctor, who will complete a requisition form on behalf of the patient, Mediclinic Precise provides the consulting doctor with expert guidance on the patient’s unique genetic report. The doctor will then relay the information, including any risks factors that the mother needs to be aware of,” says Dr Petersen. “This information enables both you and your doctor to make informed decisions about your pregnancy, prepare for your baby’s arrival and take early interventions to optimise their care.”

She concludes that optimising cutting-edge technologies, such as next-generation sequencing, has several benefits. “Not only will this provide peace of mind for expecting parents, but we believe it will advance the utilisation of precision medicine in South Africa and will offer a better understanding of the role of genetic markers in certain diseases.”

Image credit: DC Studio/Freepik

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