Using genetics to guide reproductive development and health

Every year, approximately 8 million children worldwide are born with serious congenital conditions, many of which have a genetic origin.^1,2 These genetic disorders are broadly classified into single-gene, multifactorial, and chromosomal disorders, reflecting the complexity of their origins.

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Genetic conditions often result from inherited mutations passed down from one or both parents. In an inherited genetic disorder, a mutated gene is transmitted from a parent.³

However, not all genetic defects are inherited; some arise from new, spontaneous mutations (de-novo mutations) that occur independently of the parents' DNA.⁴ These can include chromosomal anomalies like Down syndrome or rare monogenic conditions like Marfan syndrome.⁵  Such disorders can have profound effects on individuals and families and are typically detected through advanced screening methods.

Recent developments have made these screening methods more available for conventional use, transforming how families approach reproductive health. This allows prospective parents to integrate precision medicine, early intervention, and personalized care into their decision-making process.

The role of genetic screening in reproductive health

Genetic testing plays a crucial role in identifying potential risks early and guiding reproductive decisions. One important method is next-generation sequencing, which involves analyzing small DNA samples from both parents to assess the risk of passing on genetic conditions to their child.

To reduce the risk of genetic disorders, prospective parents can benefit from a three-stage approach: pre-conception screening, prenatal screening, and newborn screening.

1. Preconception Testing: Before conception, couples can undergo genetic testing to assess the likelihood of passing on certain genetic conditions. Approximately 2 in 100 couples are at risk of carrying genetic variations linked to rare disorders.⁶ Preconception screening, such as carrier testing, helps identify these risks early, providing valuable information for family planning and reducing the chance of passing on serious conditions.
2. Advanced Prenatal Testing: Prenatal testing is performed during pregnancy to detect potential genetic disorders. A significant proportion of rare developmental conditions, including chromosomal aneuploidies (such as Down syndrome, Edwards syndrome, and Patau syndrome), affect fetal development.⁷ Non-invasive prenatal testing (NIPT) is a key method that allows early detection of these conditions by analyzing a sample of the mother's blood, typically as early as 10 weeks of pregnancy. This screening provides valuable insights into potential risks without any harm to the fetus.
3. Newborn Screening: Some genetic disorders may not become apparent until after birth, affecting approximately 1 in 25 newborns. Early identification of these conditions can lead to effective treatment, preventing severe health outcomes. For example, congenital hypothyroidism, if not detected early, can result in growth failure and intellectual disability.⁸ Newborn screening, often involving DNA testing, can detect such conditions shortly after birth, enabling timely intervention.

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Recent advancements in genetic testing technology

High-throughput genetic testing technology has revolutionized the field of medicine. These advancements have allowed for the rapid sequencing of the entire DNA blueprint of the body, known as the genome so that mutations in DNA can be more readily detected. Whole-genome sequencing screens the entire genome, including non-coding and regulatory regions, for a larger perspective on disorder. 

Whilst beneficial, whole-genome sequencing can also be time-consuming and expensive. As a result, researchers developed a more comprehensive solution – sequencing the protein-coding region of DNA, known as exons, as mutations are linked to more than 6000 monogenic disorders.⁹ These are known to be associated with serious health consequences. By ‘zooming in’ on exons, researchers can target the region’s most associated with the disorder, allowing for quicker diagnosis and treatment.

Demand for precision medicine

The recent development of DNA-sequencing technology has catalyzed a transition from a ‘one-size fits all’ therapeutic landscape to one that focuses on the unique composition of the individual. By sequencing the DNA of patients, clinicians are able to tailor a therapeutic approach to the individual, allowing for more precise care. This integrated approach favors a quicker and more accurate diagnosis and is already being used as a technique in gynecologic cancer rehabilitation.¹⁰

The growth in precision medicine has allowed families to make a more empowered decision based on their own specific genetic requirements, and further development in genomic technologies will promote this further.

The challenges faced in modern society

Prospective parents face a number of challenges in relation to reproductive health, which manifest as a result of both societal and biological issues. The age of parenthood has increased significantly in recent years, rising from 26 to 31 years in the last six decades.¹¹ And as this prospective maternal age increases past 35, so does the risk of gestational diabetes, in addition to the potential for chromosomal defects.¹² Parents are also faced with the potential of preexisting health conditions, in addition to the transfer of unknown recessive genes. 

While genetic disorders have been found to only affect less than 1 in 2000, they are often misdiagnosed or poorly treated due to poor awareness.¹³ That’s why affordable and accessible reproductive health screenings are so important. By testing early, parents can mitigate against potential health defects down the road and make more informed decisions based on potential defects. 

BGI Genomics’ contribution to reproductive health screening

In response to the growing demand for affordable reproductive health solutions, BGI Genomics has developed a range of screening technologies to monitor the genetic health of individuals across various stages: pre-conception, prenatal, and post-birth. These technologies aim to provide families with reliable, comprehensive, and affordable insights into genetic risks, ultimately guiding healthier reproductive decisions based on a precision medicine approach. 

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Some of these tools include: 

• Pre-conception testing: The VISTA Carrier Screening Test identifies over 10,000 genetic variants associated with 172 recessive disorders, offering guidance for couples at risk.
• Prenatal testing: NIFTY, used in millions of pregnancies, offers early and accurate detection of chromosomal abnormalities, helping parents make informed decisions.
• Newborn screening: The NOVA test screens for 242 genes linked to over 100 developmental disorders, helping to identify potential genetic conditions early in life.

By advancing the understanding and application of genetic technologies, BGI Genomics supports families in navigating reproductive health decisions, ensuring access to reliable genetic insights that empower informed choices. 

References and further reading

1. Pan American Health Organization (PAHO), 2020. Born with congenital defects: Stories from children, parents, and health care professionals. Available at: https://www.paho.org/en/news/3-3-2020-born-congenital-defects-stories-children-parents-and-health-care-professionals 
2. database.earth. (2020). Annual Population Births by Country in 2020 (World Map). Available at: https://database.earth/population/births/2020.
3. Alliance, G. (2009) INHERITANCE PATTERNS. Available at: https://www.ncbi.nlm.nih.gov/books/NBK115561.
4. Mohiuddin, M., Kooy, R.F. and Pearson, C.E. (2022). De novo mutations, genetic mosaicism and human disease. Frontiers in Genetics, 13. https://doi.org/10.3389/fgene.2022.983668.
5. Salik, I., Rawla, P. (2025). Marfan Syndrome. Available at: https://pubmed.ncbi.nlm.nih.gov/30726024/ 
6. Zhao, S.,et al. (2018). Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples. European Journal of Human Genetics, 27(2), pp.254–262. https://doi.org/10.1038/s41431-018-0253-9.
7. Wu, J., Springett, A. and Morris, J.K. (2013). Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011. American Journal of Medical Genetics Part A, 161(10), p.n/a-n/a. https://doi.org/10.1002/ajmg.a.36127. 
8. Rose, S.R., et al. (2022). Congenital Hypothyroidism: Screening and Management. American Academy of Pediatrics, 151(1). https://doi.org/10.1542/peds.2022-060419.
9. Rigau, M., et al. (2019). Intronic CNVs and gene expression variation in human populations. PLOS Genetics, 15(1), p.e1007902. https://doi.org/10.1371/journal.pgen.1007902.
10. Zhang, P.-Y. and Yu, Y. (2020). Precise Personalized Medicine in Gynecology Cancer and Infertility. Frontiers in Cell and Developmental Biology, 7. https://doi.org/10.3389/fcell.2019.00382.
11. Cam.ac.uk. (2024). The Cambridge Group for the History of Population and Social Structure, Cambridge. Available at: https://www.campop.geog.cam.ac.uk/blog/2024/11/28/timing-of-motherhood/. 
12. Moore, L.L., et al. (2002). Chromosomal Anomalies among the Offspring of Women with Gestational Diabetes. American Journal of Epidemiology, 155(8), pp.719–724. https://doi.org/10.1093/aje/155.8.719.
13. Muhammad Umair and Waqas, A. (2023). Undiagnosed Rare Genetic Disorders: Importance of Functional Characterization of Variants. Genes, 14(7), pp.1469–1469. https://doi.org/10.3390/genes14071469.

About BGI Genomics

BGI Genomics is the world's leading integrated solutions provider of precision medicine, now serving customers in more than 100 countries.

They provide academic institutions, pharmaceutical companies, healthcare providers, and other organizations with integrated genomic sequencing, proteomic services, clinical testing, and solutions across a broad range of applications.

They have more than 20 years of genomics experience helping customers and partners achieve their goals by delivering rapid, high-quality results using a broad array of cost-effective, cutting-edge technologies, including their own innovative DNBSEQ™ sequencing technology.

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