Birth of Twins free of BRCA1 Mutation using the PGT-M technique (Preimplantation Genetic Testing for Monogenic Diseases) – Times of India

A mutation in Breast Cancer 1 or 2 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 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.

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

Five years ago, Hollywood actor Angelina Jolie had undergone operations to remove her breasts and ovaries after she was diagnosed with both the BRCA1 (BReast CAncer gene) and BRCA2 mutations that heighten the risk of several forms of cancer, particularly breasts and ovaries. Among men, it increases the risk of breast, pancreatic and prostrate cancer.

In Swayam’s case, IVF specialist Dr Firuza Parikh and her team of geneticists used pre-implantation genetic testing and transferred only those embryos without the BRCA1 mutation into the 37-year-old’s womb. “With IVF, we managed six embryos for Swayam,” said Parikh who runs the FertilTree-Jaslok International Fertility Centre. While two embryos were not viable, two carried the mutation and the remaining two didn’t.

Parikh, who has used PGT to help couples have kids without genetic conditions such as thalassemia, said Swayam’s case is the first in India where the threat posed by oncogenes was removed. “Worldwide, PGT has been used to keep out BRAC1 & 2 genes in roughly 150 cases,” she added.

Roughly, eight million children are born across the world every year with birth defects due to genetic reasons. “Genetic abnormalities can result from a small mutation in just one gene. But PGT can play a role in preventing birth defects,” said Dr Parikh.

Swayam Prabha married Bengaluru-based IT professional Debashis Panigrahi in 2010, just a few months before her mother was diagnosed with ovarian cancer. “As my mother’s sisters, cousins and an uncle had cancer, doctors at Tata Memorial Centre in Parel asked me and my siblings to undergo a genetic gene test for oncogenes,” she said. Only she had the BRCA1 gene mutation and was advised to follow Angelina Jolie-like operations to remove her breasts and ovaries.

“I wanted to ensure that my husband’s family has a healthy baby, so I waited before taking such a drastic step,” she said. When she met Parikh for the first time in December 2016, she was advised not to undergo any removal surgery.

“Angelina Jolie had both BRCA 1 and BRCA2 genes that increased her chances of cancer. But Swayam only has one mutation and there are chances that she won’t get cancer despite the mutation,” said Parikh.


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