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PGD Testing Eliminates Breast Cancer Risk

PGD testing BRCA Gene

By the time Anna Mazor was 33 years old, she’d already been trying to have a baby for two years without luck. After a trip to her doctor’s office, she was referred to Reproductive Medicine Associates of Philadelphia’s Dr. Art Castelbaum.

But she didn’t just want Dr. Castelbaum to help get her pregnant – she needed his help to break a cycle of breast cancer that had plagued her family for generations.

Mazor is a Philadelphia-area breast surgeon who learned at a young age that she had a higher than normal risk of developing breast cancer. She has two identifying factors that would increase her chances of being a carrier of a breast cancer susceptibility gene mutation, known as BRCA. First, her mother and her mother’s sister carried the BRCA2 gene mutation and both had breast cancer, and second, Mazor was of Ashkenazi Jewish descent.

“I knew the chances of me having the gene mutation were pretty high, and I saw what my mother and my aunt when through having cancer,” Mazor said recently. “So I wanted to get ahead of it while I was still young.”

Having a family member that is a BRCA gene carrier meant that Mazor had a 50 percent chance of having inherited the mutated gene herself. Additionally, it meant that if she had the gene mutation, she too could pass it onto any future children she may have. To add to those statistics, because she is of Ashkenazi Jewish descent, she has a 1 in 40 chance of having the BRCA1 or BRCA2 gene mutation. For comparison, the general population has a 1 in 800 chance of carrying a BRCA gene mutation.

As a breast cancer surgeon, Mazor knew the rest of the statistics by heart, too: approximately 50 percent of all women who carry a BRCA gene mutation will develop breast cancer by the time they are 70 years old, and approximately 30 percent who carry the mutation will develop ovarian cancer by 70 years of age. She knew she had to get tested, and once she did, was diagnosed with having the BRCA2 gene mutation.

Mazor made an appointment with her doctor to discuss ways to reduce her breast cancer risk, but when she mentioned she was also struggling to get pregnant, she was referred to Dr. Castelbaum. She was told he could help her get pregnant and ensure her children didn’t have any BRCA gene mutations through a process called PGD, or Preimplantation Genetic Diagnosis.

“It was empowering knowing that even though I had this risk factor for cancer, I could map out a cancer reducing strategy for myself now and possibly for future generations,” she said.

During her first meeting Dr. Castelbaum, she learned more about PGD.

PGD is a procedure used during In Vitro Fertilization (IVF), where an embryologist takes cells from an embryo and tests them for genetic abnormalities. In Mazor’s case, that abnormality would be the BRCA gene mutation. Through PGD, doctors have the ability to select and implant only healthy embryos.

“If I could avoid passing this gene onto my future children, then I was going to do that,” Mazor said. “We decided to do the PGD to help break the cancer cycle in our family and Dr. Castelbaum was our biggest cheerleader.”

Mazor decided to begin the IVF process, and went through two cycles that yielded a dozen embryos. Those embryos then underwent PGD testing to see which ones did not have the breast cancer mutation, and could be used for Frozen Embryo Transfer (FET).

“Of the embryos that we had, only three of them were healthy and didn’t have a BRCA gene mutation, and all were male!” she said.

In January 2016, Mazor underwent an FET, and nine months later, gave birth to a beautiful, healthy baby boy, Theo. She said she wanted to share her story because she knows how many women deal with the same issue every day. Her message? There is hope – and there is help.

“Because of Dr. Castelbaum and RMA of Philadelphia, we now have a healthy baby boy who won’t have to worry about carrying a cancer-causing gene,” she said. “I want others to know they should investigate their options, because it’s possible to beat this.”