Uptake of genetic testing in reproductive health
Reproductive Health Month is an opportunity to reflect on how far reproductive medicine has come, not just in supporting conception but in empowering individuals and couples with information they never had before. Genetic testing, both before and during pregnancy, is rapidly reshaping the fertility journey, from understanding infertility causes to monitoring the health of pregnancies.
Trends in reproductive health
Over the past decade, genetic testing has moved from being a niche option to a mainstream component of reproductive care worldwide. Advances in genomic technology have made tests more accurate, accessible, and affordable. Today, people pursuing pregnancy, whether naturally or through assisted reproductive technologies, have a range of genetic tools to support every stage of the reproductive journey.
Infertility
Infertility affects millions of people worldwide. According to global health studies, around 10–15% of couples experience infertility during their reproductive years. Rising maternal age, environmental factors, lifestyle influences, and chronic health conditions are significant contributors. Demand for fertility services, including in vitro fertilisation (IVF), continues to grow, particularly in high-income countries but increasingly in middle-income regions as well.
The total fertility rate is an estimate of how many children a woman is likely to have during her lifetime. Statistics show that, in South Africa, this figure has continued to drop markedly since 1960.
Genetic testing is now integral to fertility care because it enhances diagnosis and treatment strategies:
- Genetic factors can underlie recurrent pregnancy loss and poor embryo quality.
- Genetic insights inform personalised IVF approaches.
- Testing helps identify carriers of recessive conditions before or during fertility treatment.
- Safer non-invasive prenatal genetic testing provides valuable insights into the unborn baby and supports informed clinical and parental decision-making.
Next Biosciences is a leading biotechnology company in South Africa, offering genetic testing services locally to assist people in reaching the goal of having a healthy family.
Preconception carrier screening
Identifies whether individuals carry genes for autosomal recessive or X-linked recessive conditions, allowing informed family planning and reducing the risk of serious genetic disorders. Genetic diseases are the leading cause of infant death in the US, responsible for about 20% of infant mortality.2 Similarly, South Africa faces a significant burden of genetic diseases, with Sickle Cell Anaemia being common in the African population and Tay-Sachs disease in the Ashkenazi Jewish community. Carrier screening for these conditions is highly beneficial, enabling informed reproductive choices such as assisted reproductive technologies with embryo genetic testing, targeted prenatal screening, use of donors, or adoption.
Preimplantation genetic testing (PGT)
Embryos created via in vitro fertilisation (IVF) can be tested for chromosomal abnormalities or specific genetic conditions before transfer, improving success rates and reducing miscarriage risk. Data from the African Network and Registry for Assisted Reproductive Technology (ANARA) shows an increase in ART activity, with the use of PGT demonstrating good effectiveness and lower multiple delivery rates.3 As accessibility remains a major barrier to PGT across Africa, Next Biosciences is well-positioned to provide affordable PGT testing throughout the continent.
Products of conception (POC) testing
With >55% of miscarriage cases unknown, POC testing provides answers after a pregnancy loss by investigating chromosomal abnormalities that may have caused the loss. With >55% of miscarriage cases left with an unknown reason unknown, POC testing can provide closure to patients and Recurrent pregnancy loss (RPL), is defined as two or more losses before 20 weeks' gestation, affecting 2-5% of couples. After standard workups (e.g., uterine evaluation, endocrine tests, antiphospholipid antibodies, and parental karyotypes), 50-60% of cases remain unexplained. POC testing can identify aneuploidy as a cause in >55% of miscarriages, providing explanations and guiding management.4
Non‐invasive prenatal testing (NIPT)
A simple blood test that can detect chromosomal conditions and even determine fetal sex as early as 10 weeks, without risk to the pregnancy. While NIPT offers high sensitivity and specificity for common aneuploidies and reduces the need for invasive testing, particularly benefiting HIV-positive pregnancies, its uptake in South Africa remains limited due to high costs, reliance on complex NGS technology, inadequate infrastructure, and shortages of trained genetic counsellors.5 Access is largely restricted to privately funded, high-risk pregnancies, exacerbating healthcare inequities.
Next Biosciences offers the most comprehensive NIPT portfolio in South Africa at medical aid scheme rates, improving access for patients and healthcare providers by eliminating the need to send samples overseas for standard NIPT testing.
These tools are transforming reproductive healthcare - empowering clinicians and families with data to make better-informed decisions.
As reproductive healthcare evolves globally, genetic testing stands out as a transformative force, helping people understand infertility, make informed family planning choices, and improve pregnancy outcomes. In South Africa, these innovations are increasingly part of the conversation, bringing new hope to families.
Next Biosciences plays a key role in advancing accessible, accurate genetic testing.
References:
- World Population Prospects, United Nations ( UN ), publisher: UN Population Division; Statistical databases and publications from national statistical offices, National statistical offices; Demographic Statistics, Eurostat ( ESTAT )
- Nazareth SB, Lazarin GA, Goldberg JD. Changing trends in carrier screening for genetic disease in the United States. Prenat Diagn. 2015 Oct;35(10):931-5. doi: 10.1002/pd.4647. Epub 2015 Jul 27. PMID: 26138560; PMCID: PMC4758394.
- Dyer S, Potgieter L, Honwana F, Elgindy E, Adageba RK, Khrouf M, et al. Assisted reproductive technology in Africa: the African Network and Registry for ART, 2021 and 2022. Reprod Biomed Online. 2026;52(2):105230. doi:10.1016/j.rbmo.2025.105230.
- Genetic testing of products of conception in recurrent pregnancy loss evaluation Dahdouh, Elias M. et al. Reproductive BioMedicine Online, Volume 43, Issue 1, 120 - 126
- Labuschagne R, Aldous C, Vorster E, Walters S. Scoping review: the current landscape of NIPT in South Africa. J Community Genet. 2025 Jun;16(3):227-241. doi: 10.1007/s12687-025-00802-6. Epub 2025 May 28. PMID: 40437261; PMCID: PMC12202265.
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