Cell-free DNA screening for fetal aneuploidy as a clinical service. Clin Biochem. 2015;48:932-41. [PMID: 25732593] doi:10.1016/j.clinbiochem.2015.02.011Cuckle H, Benn P, Pergament E. Cell-free DNA screening for fetal aneuploidy as a clinical service. Clin Biochem. 2015;48(15):932-4...
The fetal fraction, or percentage of total cell-free DNA (cfDNA) in a sample derived from the fetus, can impact NIPT results and profitability.
Cell-free DNA (cfDNA) screening for normal fetal aneuploidy has been widely adopted worldwide due to its convenience, non-invasiveness, and high positive predictive rate. We retrospectively evaluated 9327 Korean women with single pregnancies who underwent a non-invasive prenatal test (NIPT) to invest...
aneuploidy cell-free DNA prenatal screening trisomy Introduction Noninvasive prenatal testing using cell-free DNA (cfDNA) to screen for fetal chromosomal aneuploidy has seen rapid uptake since 2011.1,2 It was demonstrated to have high sensitivity and specificity3,4 and be superior to standard materna...
cell-free dna screening for fetal aneuploidy obstet gynecol, 126 (2015), pp. e31-e37 google scholar 8 j.s. dungan, s. klugman, s. darilek, j. malinowski, y.m.n. akkari, k.g. monaghan, et al. noninvasive prenatal screening (nips) for fetal chromosome abnormalities in a general-...
cffDNA NIPT accuracy high, can be diagnostic for fetal sex and rhesus D, but only screening test in aneuploidy. Introduction Non-invasive prenatal testing (NIPT) uses cell-free fetal DNA (cffDNA) that is present in maternal plasma, and is believed to originate from the trophoblast. It was ...
Noninvasive Prenatal Genetic Screening Using Cell-free DNA JAMA JAMA Insights August 14, 2018 This JAMA Clinical Update reviews the use of maternal cell-free DNA (cfDNA) analysis to help screen for fetal aneuploidy trisomies 13, 18, 21, and others). Reflections on a Prenatal Diagnosis of Triso...
Prenatal cell-free DNA (cfDNA) screening uses extracellular fetal DNA circulating in the peripheral blood of pregnant women to detect prevalent fetal chromosomal anomalies. However, numerous severe conditions with underlying single-gene defects are not included in current prenatal cfDNA screening. In this...
Noninvasive prenatal screening (NIPS) for fetal aneuploidy via cell-free DNA has been commercially available in the United States since 2011. In 2016, the American College of Medical Genetics and Genomics (ACMG) issued a position statement with specific recommendations for testing laboratories. We so...
Abstract. Objective: To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis in screening for aneuploidies