First successful twin delivery in India after Preimplantation Genetic Diagnosis for BRCA1 mutation.

A mutation in Breast Cancer 1 or 2 genes (BRCA1 or BRCA2) can predispose women to breast and ovarian cancers and men toprostate, colon and breast cancers.A couple with 3 miscarriages, withthe female partner being heterozygousfor BRCA1 (autosomal dominant)mutation approached us for their desireto 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 antagonist protocol and stimulation with HMG+FSH. For 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. The woman conceived and successfully delivered twin babies free of BRCA1 mutation.