Several studies presented at the recent ASRM annual meeting reviewed data on ART outcomes for BRCA positive patients and the news is positive. Preimplantation genetic diagnosis (PGD) allows for the transfer of only those embryos free of the mutation and success rates are comparable to the success rate achieved by patients without the mutation.
In a study in Colorado examining the impact of BRCA mutations on embryo development and frozen embryo transfer, couples with BRCA 1 or BRCA 2 mutations and no history of cancer went through 31 cycles of IVF for infertility or for preimplantation genetic diagnosis (PGD). On average, 20 eggs were retrieved per cycle with 12 normally fertilized through ICSI. The yield of good quality blastocysts, including those embryos carrying a mutated BRCA gene, was 50%- comparable to IVF cycles using a young, fertile egg donor. Embryo development and blastocyst development were not affected by the mutations despite the fact that BRCA proteins are expressed during the preimplantation stage. Sixteen frozen embryo transfers resulted in seven live deliveries.
In a study in New York, BRCA carriers underwent 42 cycles for fertility treatment (35) and egg freezing (7). Patients in the BRCA 1 and 2 groups were similar in age and BMI and had similar ovarian reserve, as represented by day 3 FSH levels. However, in BRCA 1 carriers, a trend was observed to age-related decline in ovarian reserve and number of eggs retrieved. Preimplantation genetic screening (PGS) was used in 16 cycles and BRCA mutation carriers’ embryos did not show increased chromosomal abnormalities.
A study done in Illinois included 128 PGD cycles for 66 couples at risk of passing on a BRCA 1 or 2 mutation. Chromosome testing was also done in 77 of these cycles for couples of advanced reproductive age. Of 993 embryos tested, 441 were clear of BRCA 1 or BRCA 2 mutations and 117 of these were transferred, resulting in 39 pregnancies and the birth of 47 children without a BRCA mutation.
Richard Paulson, MD, President-elect of ASRM said, “It is gratifying that BRCA patients do so well with ART including PGD. Especially if they are not affected by an infertility diagnosis, they have an excellent chance of having a child and avoiding transmitting the BRCA gene to their child.”
At RPMG we are experienced in performing IVF with PGD for BRCA and a myriad of other genetic disorders and PGS for chromosomes.