PGT for Single Gene Disorder : First pregnancy in India for BRCA1 mutation. Twins free of BRCA1 mutation born to Debashis and his wife who is a carrier of BRCA1 mutation.

A mutation in Breast Cancer genes (BRCA1 or BRCA2) can predispose women to breast and ovarian cancers and men to prostate, colon and breast cancers. A couple with 3 miscarriages, with the female partner being heterozygous for BRCA1 (autosomal dominant) mutation approached us for their desire to have a child free of BRCA1 mutation. Preimplantation genetic diagnosis (PGD) for BRCA1 mutation was offered. Pre-PGD genetic work up was carried out. The couple underwent ICSI with PGD. Trophectoderm cells were biopsied from six blastocyst embryos and subjected to chromosomal aneuploidy screening. Of these, 2 euploid embryos were tested for BRCA1 mutation. Both embryos were free of the mutation and hence a frozen embryo transfer was performed in the subsequent cycle. She conceived and successfully delivered twin babies free of BRCA1 mutation.

This is the first reported case in India of live twin births after PGD for BRCA1. Parikh et al., IJAR 2018:8(8), 338-9