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. FertilTree is a top IVF center in Mumbai and India.
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