For Specialists

What genetic testing is recommended before IVF?

Testing should follow indication rather than being applied as a panel. Combining what the relevant guidelines actually specify: Male partner (AUA/ASRM 2021): Karyotype and Y-chromosome microdeletion for azoospermia, or severe oligozoospermia under 5 million/mL with elevated FSH, testicular atrophy or presumed impaired production. The microdeletion result changes management โ€” complete AZFa and/or AZFb deletion means sperm have not been retrieved by TESE and surgery is not indicated. CFTR mutation carrier testing, including the 5T allele, for vasal agenesis or idiopathic obstructive azoospermia. Where positive, the female partner should have genetic evaluation. Recurrent pregnancy loss (ASRM 2026): Array-based chromosome analysis of miscarriage tissue is the recommended first step โ€” before parental testing. Parental karyotypes where miscarriage testing shows an unbalanced rearrangement, or where no miscarriage testing was done. Male karyotype for couples with RPL. Before PGT (ESHRE 2020): Case-specific preclinical work-up is required for PGT-M and PGT-SR. It is NOT required for aCGH or NGS aneuploidy testing. Note a technical limitation worth knowing: FISH, aCGH and NGS without genotyping cannot detect uniparental disomy from embryo biopsy alone. Population carrier screening for recessive conditions is a separate decision, driven by ancestry, consanguinity and family history rather than by infertility. In the Indian context, thalassaemia and haemoglobinopathy carrier screening has particular relevance. Reviewer: this answer deliberately does not specify an expanded carrier screening panel. That should reflect local practice and available testing, and should be set by your genetics service.

Sources

  • ESHRE PGT Consortium good practice recommendations (2020)

Review by Fertility Connect Medical Team Pending

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