Paternal Age and Birth Defects: What Prospective IVF Parents Should Know

Paternal Age and Birth Defects: What Prospective IVF Parents Should Know

Advanced paternal age – typically referring to men in their 40s and beyond – is increasingly recognized as a contributing factor to genetic risks in offspring. Understanding these risks is important for prospective parents considering in vitro fertilization (IVF) and preimplantation genetic testing (PGT) to help ensure a healthy pregnancy.

Written by Orchid Team

Medically reviewed by Dr. Nathan Slotnick, MD, PhD

Dr. Slotnick is a board certified Medical Geneticist and High Risk Obstetrician with over 40 years of practice. Throughout his career, Dr. Slotnick has dedicated himself to academic genomic and perinatal medicine with an expertise in research, teaching and programmatic development, consistently seeking ways to harness emerging technologies for the advancement of medicine, equity in healthcare and the enhancement of patient care.

When planning IVF, many couples focus on the mother’s age, but the father’s age can also influence a baby’s health. Advanced paternal age – typically referring to men in their 40s and beyond – is increasingly recognized as a contributing factor to genetic risks in offspring. Understanding these risks is important for prospective parents considering in vitro fertilization (IVF) and preimplantation genetic testing (PGT) to help ensure a healthy pregnancy.

Advanced Paternal Age and Genetic Risks

While advanced maternal age has long been known to affect fertility and embryo health, research now shows that paternal age matters too. As men get older, their sperm accumulate more DNA changes, including random new mutations (known as de novo mutations) that were not present in either parent’s genes (How Age Affects Fertility). Over time, this means older fathers have a higher chance of passing on a genetic mutation to their child.

Sperm Quality Declines with Age

Men produce new sperm throughout their lives, but as they get older the process isn’t perfect: sperm count and motility decrease and DNA errors become more likely (How Age Affects Fertility). This means a 45-year-old father’s sperm is more likely to carry a new mutation than a 25-year-old’s. Most of these DNA changes are harmless, but some can affect genes crucial for a baby’s development.

Health Conditions Linked to Older Fathers

These paternal-age-related mutations have been linked to a slightly higher risk of certain health conditions in children. For example, children of older fathers have an increased chance of neurodevelopmental disorders like autism and schizophrenia (How Age Affects Fertility). Additionally, some rare genetic birth defects (such as certain heart, skeletal, or facial abnormalities) are more common when the father is older (How Age Affects Fertility). It’s important to keep perspective: most children of older fathers are healthy, but the risk does increase with paternal age.

Preimplantation Genetic Testing (PGT) – Identifying Risks Early

For couples going through IVF, preimplantation genetic testing offers a powerful tool to screen embryos for potential issues before pregnancy. Traditional embryo tests mainly check for chromosome counts (PGT-A) and inherited disorders, but they often cannot detect new random mutations from older sperm. Orchid’s PGT uses whole-genome sequencing to scan each embryo for both maternal and paternal genetic risks. It is currently the only embryo screening that can identify de novo mutations associated with advanced paternal age (How Age Affects Fertility). It can even reveal single-gene mutations tied to birth defects and flag risks for conditions like autism and schizophrenia – all before the embryo is implanted.

Conclusion: Empowering Informed Decisions

Being aware of paternal age effects gives prospective parents a more complete picture of their reproductive risks. Tools like Orchid’s whole-genome PGT empower couples with information from both parents’ genetics, helping them make informed decisions about which embryo to transfer or whether any extra precautions are needed. Importantly, advanced age doesn’t mean a child will have problems – it only slightly increases the risk. By being proactive and using these genetic insights, couples can approach IVF with confidence and peace of mind. Discussing these concerns with clinicians and genetic counselors can often identify families at risk and allow further testing.

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