Fig 5 - uploaded by Cristina Maciel
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Mid-sagital plane at first trimester pregnancy. Note the cervical cystic hygroma extending to the dorsal region (arrows). Chorionic villus sampling revealed a Down syndrome.
Source publication
To review one of the most important measurements performed on the first trimester ultrasound, the nuchal translucency, and the main fetal anomalies associated with its increase.
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Objective
To assess the value of increased nuchal translucency (NT) at first‐trimester screening (FTS) despite the superiority of noninvasive prenatal testing with cell‐free DNA (cfDNA) for the detection of fetal aneuploidies.
Methods
Retrospective analysis of all FTS data from 2005 to 2015 in our department. Only cases with increased NT and euplo...
Background
Thickened nuchal translucency (NT; ≥2.5 mm) is closely associated with various chromosomal abnormalities, structural abnormalities, and genetic diseases. However, the cutoff value of thickened NT for invasive prenatal diagnosis remains inconsistent, and little research has been conducted on pathogenic copy number variations (CNVs) affect...
This retrospective study describes pregnancy outcome for foetuses with increased nuchal translucency (NT) in relation to the degree of increase in a local specialised medical practice. Data from 7352 first trimester pregnancies examined by a single observer between 10/07 and 07/17 were screened. Three hundred and ninety-three foetuses (5.3%) that h...
Several studies have shown that children from pregnancies with estimated first-trimester risk based on fetal nuchal translucency thickness and abnormal maternal serum pregnancy protein and hormone levels maintain a higher likelihood of adverse outcomes, even if initial testing for known genetic conditions is negative. We used the Finnish InTraUteri...
Objective
To estimate the incremental yield of detecting pathogenic or likely pathogenic diagnostic genetic variants (DGV) by whole exome sequencing (WES) over standard karyotype and chromosomal microarray (CMA) analyses in fetuses with isolated increased nuchal translucency (NT) and normal fetal anatomy at the time of 11-14 weeks scan.
Materials...
