OJOG  Vol.5 No.7 , July 2015
An Expanded Carrier Screening Tool Enhances Preconception Cystic Fibrosis Screening in Infertile Couples
Abstract: 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.
Cite this paper: Higgins, A. , Flanagan, J. , Wald, T. , Hansen, K. (2015) An Expanded Carrier Screening Tool Enhances Preconception Cystic Fibrosis Screening in Infertile Couples. Open Journal of Obstetrics and Gynecology, 5, 412-416. doi: 10.4236/ojog.2015.57059.

[1]   Moskowitz, S.M., Chmiel, J.F., Sternen, D.L., Cheng, E., Gibson, R.L., Marshall, S.G., et al. (2008) Clinical Practice and Genetic Counseling for Cystic Fibrosis and CFTR-Related Disorders. Genetics in Medicine, 10, 851-868.

[2]   Fries, M.H., Bashford, M. and Nunes, M. (2005) Implementing Prenatal Screening for Cystic Fibrosis in Routine Obstetric Practice. American Journal of Obstetrics & Gynecology, 192, 527-534.

[3]   US Census Bureau (2012) The Statistical Abstract of the United States: 2012. 131st Edition.

[4]   Ross, L.F. (2012) A Re-Examination of the Use of Ethnicity in Prenatal Carrier Testing. American Journal of Medical Genetics Part A, 158a, 19-23.

[5]   (2011) ACOG Committee Opinion No. 486: Update on Carrier Screening for Cystic Fibrosis. Obstetrics & Gynecology, 117, 1028-1031.

[6]   Prior, T.W. (2008) Carrier Screening for Spinal Muscular Atrophy. Genetics in Medicine, 10, 840-842.

[7]   (2009) ACOG Committee Opinion No. 432: Spinal Muscular Atrophy. Obstetrics & Gynecology, 113, 1194-1196.

[8]   (2010) ACOG Committee Opinion No. 469: Carrier Screening for Fragile X Syndrome. Obstetrics & Gynecology, 116, 1008-1010.

[9]   Wetterstrand, K.A. (2014) DNA Sequencing Costs: Data from the NHGRI Genome Sequencing Program (GSP).

[10]   Wei, S.Q.M. and Monaghan, K.G. (2007) Is Cystic Fibrosis Carrier Screening Cost Effective? Community Genetics, 10, 7.

[11]   Srinivasan, B.S., Evans, E.A., Flannick, J., Patterson, A.S., Chang, C.C., Pham, T., et al. (2010) A Universal Carrier Test for the Long Tail of Mendelian Disease. Reproductive BioMedicine Online, 21, 537-551.

[12]   Slostad, J., Stein, Q.P., Flanagan, J.D. and Hansen, K.A. (2007) Screening for Mutations in the Cystic Fibrosis Transmembrane Regulator Gene in an Infertility Clinic. Fertility and Sterility, 88, 1687-1688.

[13]   Lazarin, G.A., Haque, I.S., Nazareth, S., Iori, K., Patterson, A.S., Jacobson, J.L., et al. (2013) An Empirical Estimate of Carrier Frequencies for 400+ Causal Mendelian Variants: Results from an Ethnically Diverse Clinical Sample of 23,453 Individuals. Genetics in Medicine, 15, 178-186.