Reproductive Genetics: An Essential Part of Modern Fertility Care
Reproductive genetics focuses on how genes and chromosomes affect fertility, miscarriage risk, pregnancy, and the health of a future child. In fertility care, it helps identify inherited risks, explains why conception or implantation may not be happening, and supports safer decision making before and during pregnancy. Not every test is needed for every patient, but the right genetic evaluation can add clarity and reduce avoidable uncertainty.
How reproductive genetics is used in fertility care
1) Infertility and recurrent pregnancy loss investigations
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Genetic testing for couples to identify chromosomal changes such as balanced translocations or deletions that can contribute to infertility or recurrent miscarriage
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Male factor genetics in selected cases, including Y chromosome microdeletions and CFTR mutations, when sperm counts are very low or absent
2) Before conception
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Preconception genetic counselling to review family history, prior pregnancy outcomes, and appropriate testing
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Carrier screening to identify recessive conditions (for example cystic fibrosis, sickle cell disease, thalassemias, Tay Sachs), especially relevant for certain ethnic backgrounds or known family history
3) During pregnancy
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NIPT (non invasive prenatal testing) to screen early pregnancy for common chromosomal conditions
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Diagnostic testing such as CVS or amniocentesis when a definitive diagnosis is needed based on risk factors or screening results
4) During IVF
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PGT (preimplantation genetic testing) to assess embryos before transfer in selected situations, such as known genetic disease risk, repeated miscarriage, or older maternal age
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ERA (endometrial receptivity analysis) in selected cases to assess the timing of uterine receptivity, usually considered only after specific patterns of implantation failure
Reproductive genetics can help reduce the risk of passing on inherited conditions, improve decision making around embryo transfer, and provide clearer answers when fertility journeys become complex.
