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As more couples start families later in life, understanding the risk of birth defects with age is crucial. Medical research has established a clear link between advancing parental age – especially maternal age – and increased chances of certain birth defects. Older eggs are more prone to chromosomal errors during cell division, which raises the risk of conditions like Down syndrome (Down Syndrome: Prenatal Risk Assessment and Diagnosis | AAFP). For example, a 35-year-old mother has roughly a 1 in 350 chance of having a baby with Down syndrome, compared to about 1 in 1,300 in her mid-20s (Down Syndrome: Prenatal Risk Assessment and Diagnosis | AAFP). By age 45, that risk escalates to approximately 1 in 30. Advanced paternal age also plays a role: as men age, more spontaneous (de novo) genetic mutations can appear in their sperm. Studies have found that older fathers are associated with higher odds of certain birth defects and new genetic disorders in their children (How Age Affects Fertility). In short, the genetic material passed to an embryo can be affected by the age of both parents, through chromosomal abnormalities or gene mutations that become more likely over time.

Why Age Increases Genetic Risk

The biological reasons behind these statistics help explain why age matters. Human eggs pause in their development for decades until ovulation, and this long pause can lead to difficulties in splitting chromosomes correctly as a woman gets older (How Age Affects Fertility). An egg from an older woman is simply more likely to have an extra or missing chromosome, which can cause conditions like Down syndrome or other chromosomal abnormalities. Meanwhile, men produce new sperm continuously, and with each passing year there are more opportunities for tiny DNA errors to accumulate. These small DNA changes, if they occur in critical genes, can result in congenital conditions or developmental disorders in the offspring. While most children born to older parents are healthy, the gradual increase in these genetic risk factors means that age-related birth defect risks should be on the radar for any couple planning a pregnancy in their late 30s or 40s.

Mitigating Age-Related Risks with PGT

The good news for those considering in vitro fertilization (IVF) is that modern technology offers ways to assess and reduce these risks. Preimplantation Genetic Testing (PGT) allows doctors and prospective parents to screen embryos created via IVF before pregnancy. This means potential issues can be identified at the embryonic stage, helping ensure that only healthy embryos are selected for transfer. Orchid’s advanced whole-genome preimplantation genetic testing (PGT) is an example of how far this technology has come. Technologies like Orchid’s whole-genome PGT can screen embryos at this stage for chromosomal abnormalities and genetic mutations before implantation. By examining the embryo’s DNA in detail, PGT can detect:

• Chromosomal Anomalies: Standard PGT-A (aneuploidy screening) counts the chromosomes in each embryo, flagging any extra or missing chromosomes. This is especially helpful since older eggs yield a higher proportion of chromosomally abnormal embryos (How Age Affects Fertility). Identifying these embryos can prevent miscarriages or conditions caused by chromosome imbalances.
• Genetic Mutations: Beyond chromosome counts, Orchid’s whole-genome PGT (PGT-WGS) analyzes the embryo’s DNA for hundreds of genetic disorders. In fact, it screens roughly 1,200 genes linked to serious inherited conditions (including many that cause birth defects and developmental disorders) (Comparing our family's PGT-WGS and PGT-A cycles). This comprehensive approach covers single-gene diseases that other tests might miss.
• New (De Novo) Variants: Uniquely, Orchid’s embryo testing can even detect de novo mutations – new genetic changes that were not present in the parents’ genes (How Age Affects Fertility). These rare mutations are more common as paternal age increases and can lead to conditions like achondroplasia or certain neurodevelopmental disorders. Being able to screen for them gives older fathers added peace of mind that was previously hard to obtain.

By leveraging PGT, couples can significantly mitigate the risk of age-related genetic issues. The screening results guide fertility specialists in selecting an embryo with the best chance of healthy development, thereby improving the odds of a successful pregnancy and a healthy baby (How Age Affects Fertility). While no test can eliminate all risk, this proactive step can greatly reduce uncertainty for parents who have concerns about age and birth defects.

Empowering Informed Reproductive Choices

Knowledge is empowering. For couples pursuing IVF in their late 30s or 40s, information from genetic testing provides clarity and confidence. It’s important to remember that an elevated statistical risk does not guarantee an outcome – many older parents have perfectly healthy children (How Age Affects Fertility). What technologies like Orchid’s PGT do is arm families with detailed insights so they can make informed choices about their reproductive journey. Equipped with genetic information about their embryos, prospective parents can work with their doctors to decide on the best path forward, whether that’s selecting a particular embryo, considering donor gametes, or taking other precautions. Orchid’s mission is to support and empower couples in these decisions by shedding light on what was once a genetic unknown.

For those who want to explore these topics further, Orchid’s educational guides offer in-depth explanations of age-related fertility risks, IVF procedures, and genetic screening options. These resources delve into the science of how age affects fertility and pregnancy, and explain how advanced testing works – all in reader-friendly terms. By consulting such guides, prospective parents can deepen their understanding and feel more prepared for each step of the IVF and PGT process. In summary, while increasing age can raise the risk of birth defects, today’s genetic technologies provide powerful tools to assess and reduce that risk, helping hopeful parents move forward with greater reassurance and clarity.