Fertility Blog

Pacific Fertility Center Presents Original Research at ASRM Annual Meeting

As in years past, Pacific Fertility Center (PFC) submitted original research this year for presentation at the annual meeting of the American Society for Reproductive Medicine (ASRM), held October 28 through November 1 in San Antonio, TX. Our study on genetic screening was accepted for poster presentation.

Carrier screening. expanded genetic carrier screening.

The subject of the study was the findings concerning PFC’s experience since implementation of Expanded Genetic Carrier Screening, which began at our clinic in January of 2016. Since that time, we’ve offered this type of screening to 1,332 patients (including partners) and egg donors using a panel from Natera called the Horizon Carrier Screen. We provided informed consent for expanded genetic carrier screening to all patients and recommended they have genetic counseling about their results.

Screening for men and women. The expanded Natera panel screens for 274 conditions in women and 254 conditions in men. The reason women are screened for more conditions is because they have two X chromosomes and can, therefore, have a mutation on only one, which means they can be a silent carrier for X-linked genetic diseases. By contrast, a man has only one X chromosome. For him, an X-linked mutation would have automatically caused the disease, so no screening is needed.

Results. Between February 2016 and January 2017, we found that 76% of the individuals we offered testing to chose to undergo Expanded Carrier screening, including 1,074 patients and 157 donors. Screening is mandatory for egg donors.

  • Of those undergoing testing, 722 (61%) were found to have between 1 to 5 genetic variants (mutations) and 39% tested negative for all mutations.
  • Of those with positive results, 13 families were identified as at risk of having a child with a significant genetic disease, representing 1.6% of the tested families. In these cases, either the female partner tested positive for an X-linked condition or both partners tested positive for the same variant, which is known as an autosomal recessive disorder.
  • Of those at risk of a child with a significant genetic disease, 11 patients elected to undergo in vitro fertilization (IVF) with pre-implantation genetic testing of the embryos. They did this to avoid transferring an embryo likely to result in a child with the disease.

Notably, 105 people tested positive for variants that had possible clinical implications for the carriers themselves. This ranged from relatively benign conditions such as low blood pressure to more severe conditions such as cancer. We advised genetic counseling for all carriers to help them gain a better understanding of their genetic variation.

Posted on December 13th, 2017
Tags: Carrier Screening, Genetic Testing

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