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Understanding BRCA & HBOC > Fertility & Parenting > Pre-Implantation Genetic Diagnosis

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Pre-Implantation Genetic Diagnosis

Learn about the effects of HBOC on fertility and family planning, how pregnancy impacts hereditary cancer risk, and options for assisted reproduction.

Pre-Implantation Genetic Diagnosis

Preimplantation Genetic Diagnosis (PGD) is a medical procedure that allows people who carry a disease-causing hereditary mutation to have children who are free from the specific mutation that causes the disease.

The procedure for PGD includes in-vitro fertilization (IVF)—a fertility treatment where the women’s eggs are removed and fertilized in a test tube. When the embryos reach a certain size, one cell is removed and is tested for the hereditary disease in question. Once the genetic status is determined, the parents can decide which embryos they want implanted.

PGD has been used for hereditary diseases such as cystic fibrosis and Huntington’s disease for over a decade. Recently, there has been some debate among the medical community regarding its use for selecting embryos free of gene mutations such as BRCA1/2. Central to this debate is the issue of whether or not this procedure should be used for mutations such as BRCA which don’t cause cancer until adulthood, where not everyone who carries the trait will get cancer, and where there are options available for preventing cancer (such as chemoprevention and surgery).

FORCE collaborated with researchers from Moffitt Cancer Center on a survey of FORCE members about their knowledge of and attitudes about PGD. Results from the survey are reported in an article published in the Journal Fertility and Sterility. The Spring 2008 edition of Joining FORCEs, the FORCE newsletter has an article that summarizes the study and it's results.

In Vitro Fertilization

The procedure for PGD includes in-vitro fertilization (IVF)—a fertility treatment where the women’s eggs are removed and fertilized in a test tube. When the embryos reach a certain size, one cell is removed and is tested for the hereditary disease in question. Once the genetic status is determined, the parents can decide which embryos they want implanted.

Very little has been written on the safety of fertility medication and in-vitro fertilization in people with a BRCA mutation or hereditary cancer risk. In 2008, Dr. Steven Narod and his colleagues published research that suggests that fertility medications and in-vitro fertilization do not increase the breast cancer risk in women with mutations. Larger research studies will be needed to confirm these results.