TITLE:
An Expanded Carrier Screening Tool Enhances Preconception Cystic Fibrosis Screening in Infertile Couples
AUTHORS:
Alexandra Higgins, Jason Flanagan, Tiffany Von Wald, Keith A. Hansen
KEYWORDS:
Cystic Fibrosis, Preconception Screening, Spinal Muscular Atrophy, Infertility
JOURNAL NAME:
Open Journal of Obstetrics and Gynecology,
Vol.5 No.7,
July
24,
2015
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.