Incidental finding of maternal sex chromosome aneuploidy from DMD carrier screening and single‐nucleotide polymorphism (SNP)‐based prenatal cell‐free DNA screening
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DOI: 10.1002/jgc4.70050
Abstract: Prenatal cell‐free DNA (cfDNA) screening and carrier screening (CS) may have incidental findings that have implications for maternal health outside the scope of the test. We investigated outcome information for individuals with both a DMD… read more here.
Keywords: sex chromosome; chromosome; cfdna screening; maternal sex ... See more keywords
Clinical Laboratory Experience With Prenatal cfDNA Screening in Triplet Pregnancies
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DOI: 10.1002/pd.6812
Abstract: Prenatal cfDNA screening is the most sensitive and specific screen for common aneuploidies in singleton and twin pregnancies and has been endorsed by several professional societies as a first‐tier screen or contingent screen. However, data… read more here.
Keywords: triplet pregnancies; clinical laboratory; cfdna screening; prenatal cfdna ... See more keywords
The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data
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DOI: 10.1038/s41436-019-0689-5
Abstract: Grati et al. recently published an interesting study in this journal on the clinical outcome of pregnancies with confined placental mosaicism (CPM) detected with chorionic villus sampling (CVS). The authors extrapolate their CVS data to… read more here.
Keywords: cfdna screening; cvs; cpm; cvs data ... See more keywords
Genome-wide cell-free DNA screening: a focus on copy-number variants
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DOI: 10.1038/s41436-021-01227-5
Abstract: Purpose 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 screening.… read more here.
Keywords: genome wide; cfdna screening; cell free; wide cell ... See more keywords
What would be missed in the first trimester if nuchal translucency measurement is replaced by cell free DNA foetal aneuploidy screening?
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DOI: 10.1080/01443615.2017.1391755
Abstract: Abstract The aim of this study was to evaluate which chromosomal abnormalities in our cohort of foetuses with increased nuchal translucency (NT) in the first trimester of pregnancy could be detected by cell free (cf)DNA… read more here.
Keywords: cfdna screening; screening would; free dna; cell free ... See more keywords
Universal cell free DNA or contingent screening for trisomy 21 - does it make a difference? A comparative study with real data.
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DOI: 10.1159/000523738
Abstract: OBJECTIVE To compare the detection rate for trisomy 21 of universal cell free DNA (cfDNA) screening with contingent screening. METHODS Retrospective study at 3 German centers. The study included euploid and trisomy 21 pregnancies where… read more here.
Keywords: contingent screening; risk; cfdna; cfdna test ... See more keywords
Obstetrical provider knowledge and attitudes towards cell–free DNA screening: results of a cross-sectional national survey
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DOI: 10.1186/s12884-018-1662-z
Abstract: BackgroundCell-free DNA (cfDNA) screening has recently acquired tremendous attention, promising patients and healthcare providers a more accurate prenatal screen for aneuploidy than other current screening modalities. It is unclear how much knowledge regarding cfDNA screening… read more here.
Keywords: cfdna screening; knowledge; survey; free dna ... See more keywords