Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single expe... 同意NIPT可检测SCA SCA的发病频率 SCA的PPV 目的 近年来,使用无细胞胎儿DNA(cffDNA)进行的非侵入性产前测试(NIPT)已被广泛接受,以检测常见的胎儿常染色体非整倍体和性染色体非整倍体(SCA)。本文分析9985例孕...
screeningAll pregnant women, regardless of age, should be offered screening or invasive testing for chromosomal abnormalities at <20 weeks' gestation. Noninvasive prenatal screening for fetal aneuploidy with the use of cell-free DNA (cfDNA) is a screening method that offers high sensitivity and ...
prenatal screeningsystematic reviewtest failuresWe systematically reviewed the published literature on test failure rates for the sequencing of cell-free DNA (cfDNA) in maternal plasma to identify Down syndrome.We searched peer-reviewed English publications with diagnostic results on all pregnancies that ...
Women who had single-nucleotide-polymorphism-based cell-free DNA screening for trisomies 21, 18, and 13 were enrolled. Genetic confirmation was obtained from prenatal or newborn DNA samples. The test performance and test failure (no-call) rates were assessed for the cohort, and women with low...
Of 86,902 prenatal genome-wide cell-free DNA (cfDNA) screening tests, 4,121 were positive for a chromosome abnormality. This study examines 490 cases screen-positive for one or more subchromosomal copy-number variants (CNV) from genome-wide cfDNA screeni
Obstet Gynecol Surv 2016;71(3):146-147 One of the most important technical advances in prenatal care in recent times is analysis of cell-free DNA (cfDNA) in the maternal plasma to screen for fetal aneuploidy. Use of cfDNA screening for aneuploidy was clinically introduced in 2011 in the Uni...
Cell-free DNA testing for 22q11.2 deletion syndrome: appraising the viability, effectiveness and appropriateness of screeningCell-free DNA testing for 22q11.2 deletion syndrome: appraising the viability, effectiveness and appropriateness of screeningdoi:10.1002/uog.15845Hui...
Objective This study reports on the clinical implementation of cell-free DNA (cfDNA) testing, contingent on the results of the combined test, in screening for fetal trisomies 21, 18 and 13 in two UK National Health Service hospitals. Women with a combined-test risk of ≥1:100 (high risk)...
A new type of prenatal screening however, offers parents-to-be a better option. Cell-Free Fetal DNA testing detects chromosomal abnormalities through a simple blood test that is more accurate than current screening tests and can be done earlier in pregnancy—as early as the 10th week, with res...
This randomized trial compares the effects of maternal Down syndrome screening using plasma cell-free DNA (cfDNA) measures vs invasive screening on