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

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 re-commends screening for spinal muscular atrophy (SMA) to all couples. Both groups suggest spe-cific 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 pa-tients 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 car-rier frequency for CF was 6.8 % with 0 % of the couples concordant heterozygotes. The carrier fre-quency 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 precon