IVF and Genetic Testing of Embryos — to Avoid Passing On a BRCA Mutation

PGT-M is available at specialist fertility centres in Hyderabad and is regulated under India's ART (Assisted Reproductive Technology) (Regulation) Act 2021. Not every fertility clinic offers it — it requires a specialist embryology laboratory with genetic testing capability, and the probe for your specific BRCA variant has to be designed and validated before stimulation begins. Ask the fertility centre explicitly whether they have performed PGT-M for hereditary cancer gene variants, not just chromosomal aneuploidy screening. Your oncology or genetics team at CION can help connect you with an appropriate referral.

PGT-M costs substantially more than a standard IVF cycle because it includes the probe design, embryo biopsy, and specialist laboratory analysis on top of the fertility treatment. Any figure given here would be indicative and dated, so ask the fertility centre for an itemised estimate that separates the IVF cycle cost from the genetic testing component. It is not routinely covered under standard health insurance in India, though some corporate policies are beginning to include it. Multiple cycles, if needed, increase the total significantly.

This is one of the most difficult aspects of PGT-M. If all embryos from a cycle carry the mutation, or if no viable embryos result, you face the decision of whether to attempt another cycle, consider donor eggs, or choose a different path — including natural conception with prenatal diagnosis, or proceeding without genetic testing. There is no obligation to continue. A genetic counsellor can help you think through the options without pressure in either direction. Some families complete more than one cycle; others decide one is enough. Both are reasonable positions.

Prenatal diagnosis — testing during an established pregnancy by chorionic villus sampling or amniocentesis — can also identify whether the foetus inherited the mutation. The difference is that a positive result during pregnancy raises the question of termination, which many couples find much harder than not transferring an embryo before a pregnancy begins. Neither approach is objectively better; the right one depends on your values, your medical situation, your age, and what each path would require of you. A genetic counsellor can help you compare the two without steering you toward either.

Long-term data on children born after PGT-M does not show an increase in birth defects or developmental problems compared with standard IVF. The biopsy removes a very small number of cells from the outer layer of the blastocyst — the part that goes on to form the placenta, not the embryo itself. The evidence base for PGT-M specifically for hereditary cancer mutations is smaller than for chromosomal conditions because it has been performed for fewer years, but ESHRE and NCCN have not identified a signal of harm. Raise this question directly with the fertility team; they should be able to share their own outcomes data.

Yes. PGT-M for a BRCA variant can be combined with preimplantation genetic testing for aneuploidies — PGT-A — which screens embryos for chromosomal abnormalities. Whether to add PGT-A is a separate conversation with the fertility specialist; it adds further cost and does not change the BRCA result. Some couples add it because chromosomal abnormalities are a common cause of implantation failure and early miscarriage. Others do not. It is not required for PGT-M to work, and the decision is yours to make with the team.