A New Model for Providing Cell-Free DNA and Risk Assessment for Chromosome Abnormalities in a Public Hospital Setting. (1st July 2014)

• Record Type: Journal Article
• Authors: Wallerstein, Robert; Jelks, Andrea; Garabedian, Matthew J.
• Other Names: Hahn Sinuhe Academic Editor.
• Is Part Of: Journal of pregnancy. Volume 2014(2014)
• Publication Date: 2014-07-01
• Subjects: Pregnancy -- Periodicals; Pregnancy -- Complications -- Periodicals; Pregnancy; Pregnancy Complications; Pregnancy; Pregnancy -- Complications; Electronic journals; Periodicals; Periodicals; 618.2
• DOI: 10.1155/2014/962720
• Languages: English
• ISSNs: 2090-2727

Abstract

Abstract : 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 18–20 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%, P < 0.05 ). 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.