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Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.

著者 Petersen AK , Cheung SW , Smith JL , Bi W , Ward PA , Peacock S , Braxton A , van den Veyver IB , Breman AM
Am J Obstet Gynecol.2017 Oct 12 ; ():.
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Since its debut in 2011, cell-free fetal DNA (cffDNA) screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, has lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre and post-test counseling, pre/perinatal decision making and medical risk assessment/management.
PMID: 29032050 [PubMed - as supplied by publisher]
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