Genetics FAQs

What genetic tests should be done before IVF?

Testing should follow your specific situation rather than being applied as a standard package. Recommended for everyone considering pregnancy, per ACOG, regardless of ethnicity: Cystic fibrosis and spinal muscular atrophy carrier screening. A complete blood count, plus screening for thalassaemias and haemoglobinopathies โ€” particularly relevant in India. Based on your history: Fragile X premutation screening if there is a family history of fragile X-related disorders or intellectual disability suggestive of fragile X, or if you have had ovarian insufficiency. Testing for a specific condition known in your family โ€” where a familial mutation is already identified, testing for that specific change is more informative than a general panel. Karyotype for both partners if you have had recurrent miscarriage. For the male partner, where there is azoospermia or a very low sperm count with other findings, karyotype and Y-chromosome microdeletion testing are recommended, and cystic fibrosis gene testing where there is absence of the vas deferens. Those results can change what treatment is possible, so they belong before IVF rather than after. Expanded carrier panels are optional and worth thinking about rather than accepting by default โ€” see the question on those. A practical point: if you have had carrier screening before, bring the results. ACOG notes that screening for a specific condition generally needs doing only once in a lifetime, and repeat testing is usually unnecessary cost. Ask for genetic counselling before testing rather than only if something is found.

Sources

  • ACOG Committee Opinion 690 / ACMG position statement โ€” carrier screening

Review by Fertility Connect Medical Team Pending

This information is general and does not replace advice from your own clinician.