Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency
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DOI: 10.1002/pd.5789
Abstract: The aim of this retrospective study is to determine the monogenic syndromes in fetuses with isolated first‐trimester increased nuchal translucency (NT) in order to provide more accurate parental counseling. read more here.
Keywords: exome sequencing; diagnosis; sequencing improves; nuchal translucency ... See more keywords
Increased nuchal translucency in fetuses with a normal karyotype—diagnosis and management
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DOI: 10.1097/md.0000000000007521
Abstract: Abstract The use of nuchal translucency (NT) in 1992 by Nicolaides et al was a major breakthrough in screening for chromosomal aneuploidies at the end of the first trimester. However, pathological conditions other than chromosomal… read more here.
Keywords: fetuses normal; translucency; management; translucency fetuses ... See more keywords
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series
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DOI: 10.3390/diagnostics13010048
Abstract: Fetal Nuchal fluid collections can manifest with two distinct presentations attributable to the same phenotypic spectrum: increased nuchal translucency (iNT) and cystic hygroma. The prenatal detection of these findings should prompt an accurate assessment through… read more here.
Keywords: hygroma; fluid collections; cystic hygroma; nuchal fluid ... See more keywords