An Expanded Carrier Screening Tool Enhances Preconception Cystic Fibrosis Screening in Infertile Couples

摘要

The American College of Obstetricians and Gynecologists recommends offering preconception and prenatal screening for cystic fibrosis (CF) while the American College of Medical Genetics also recommends screening for spinal muscular atrophy (SMA) to all couples. Both groups suggest specific screening if there is a family or personal history of a genetic disease or if the individual is from a high risk ethnic group. The purpose of this study was to determine whether availability of a more comprehensive, affordable genetic screening tool increased the number of infertility patients choosing to be screened for CF and other genetic diseases. This was a retrospective chart review of new infertility patients evaluated between May 2010 and May 2013. Sixteen hundred seventy-five new infertility couples were offered CounsylTM expanded carrier screening. The carrier frequency for CF was 6.8% with 0% of the couples concordant heterozygotes. The carrier frequency for SMA was 2.51% with 0% of the couples concordant heterozygotes. With availability of the CounsylTM screening test, the percentage of new infertility patients choosing to have preconception genetic screening increased from 2% to 8% in this population. The largest increase (17.5% of new patients) in screening followed the reduction in out-of-pocket expense in May 2013. Infertility patients are in a unique position to investigate their family history, discuss appropriate preconception genetic screening, and, if discovered to be at high risk of a genetic illness, to review their reproductive options.