%0 Journal Article
%T A New Model for Providing Cell-Free DNA and Risk Assessment for Chromosome Abnormalities in a Public Hospital Setting
%A Robert Wallerstein
%A Andrea Jelks
%A Matthew J. Garabedian
%J Journal of Pregnancy
%D 2014
%I Hindawi Publishing Corporation
%R 10.1155/2014/962720
%X Objective. Cell-free DNA (cfDNA) offers highly accurate noninvasive screening for Down syndrome. Incorporating it into routine care is complicated. We present our experience implementing a novel program for cfDNA screening, emphasizing patient education, genetic counseling, and resource management. Study Design. Beginning in January 2013, we initiated a new patient care model in which high-risk patients for aneuploidy received genetic counseling at 12 weeks of gestation. Patients were presented with four pathways for aneuploidy risk assessment and diagnosis: (1) cfDNA; (2) integrated screening; (3) direct-to-invasive testing (chorionic villus sampling or amniocentesis); or (4) no first trimester diagnostic testing/screening. Patients underwent follow-up genetic counseling and detailed ultrasound at 18¨C20 weeks to review first trimester testing and finalize decision for amniocentesis. Results. Counseling and second trimester detailed ultrasound were provided to 163 women. Most selected cfDNA screening (69%) over integrated screening (0.6%), direct-to-invasive testing (14.1%), or no screening (16.6%). Amniocentesis rates decreased following implementation of cfDNA screening (19.0% versus 13.0%, ). Conclusion. When counseled about screening options, women often chose cfDNA over integrated screening. This program is a model for patient-directed, efficient delivery of a newly available high-level technology in a public health setting. Genetic counseling is an integral part of patient education and determination of plan of care. 1. Introduction Cell-free DNA (cfDNA) is a newly available technology that allows highly accurate screening for the most common chromosome abnormalities without invasive testing. This testing identifies fetal DNA in the maternal circulation and is considered to have a detection rate for trisomy 21 and trisomy 18 of greater than 97% and greater than 80% for trisomy 13 [1¨C8]. Currently, consideration of cfDNA testing is recommended for women at increased risk for chromosome abnormalities including women of advanced maternal age (AMA), with abnormal serum screening results, ultrasonographic findings suggestive of aneuploidy, or history of a prior pregnancy affected by trisomy [9]. However, the utilization of this new technology and the specifics of incorporating it into routine care are complex, as the information obtained from cfDNA screening may overlap or contradict that from maternal serum screening, nuchal translucency ultrasound, or the genetic sonogram. We present our experience with implementing a new program for cfDNA screening
%U http://www.hindawi.com/journals/jp/2014/962720/