title: Strategies for Implementing Cell-Free DNA Testing.
abstract: Maternal plasma cell-free (cf) DNA testing has higher discriminatory power for aneuploidy than any conventional multi-marker screening test. Several strategies have been suggested for introducing it into clinical practice. Secondary cfDNA, restricted only to women with positive conventional screening test, is generally cost saving and minimizes the need for invasive prenatal diagnosis but leads to a small loss in detection. Primary cfDNA, replacing conventional screening or retaining the nuchal translucency scan, is not currently cost-effective for third-party payers. Contingent cfDNA, testing about 20% of women with the highest risks based on a conventional test, is the preferred approach.
authors.affiliation: Department of Obstetrics & Gynecology, Columbia University Medical Center, 622 West 168th Street, New York, NY 10032, USA. Electronic address: h.s.cuckle@leeds.ac.uk.
authors.forename: Howard
authors.initials: H
authors.lastname: Cuckle
mesh_terms: D000782:Aneuploidy; D015415:Biomarkers / Q000097:blood; D025063:Chromosome Disorders / Q000175:diagnosis*; D003365:Costs and Cost Analysis; D004247:DNA / Q000097:blood*; D005189:False Positive Reactions; D005820:Genetic Testing / Q000191:economics / Q000379:methods; D006801:Humans; D011296:Prenatal Diagnosis / Q000191:economics / Q000379:methods*
chemical_list: D015415:Biomarkers; D004247:DNA
keywords: Aneuploidy; Maternal plasma; Prenatal; Screening; cfDNA