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

Firuza R. Parikh; Dattatray J. Naik; Nandkishor J. Naik; Rupesh R. Sanap; Prochi F. Madon; Mangesh V. Sanap; Suresh B. Dhumal; Anahita D. Pandole; Arundhati S. Athalye

Volume : VIII, Issue : VIII, August - 2018

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

Firuza R. Parikh, Dattatray J. Naik, Nandkishor J. Naik, Rupesh R. Sanap, Prochi F. Madon, Mangesh V. Sanap, Suresh B. Dhumal, Anahita D. Pandole, Arundhati S. Athalye

Abstract :

A mutation in Breast Cancer 1 or 2 genes (BRCA1 or BRCA2) can predispose women to east and ovarian cancers and men toprostate, colon and east 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 emyos and subjected to chromosomal aneuploidy screening. Of these, 2 euploid emyos were tested for BRCA1 mutation. Both emyos were free of the mutation and hence a frozen emyo transfer was performed in the subsequent cycle. The woman conceived and successfully delivered twin babies free of BRCA1 mutation.