ArticleJournal of clinical laboratory analysis2020
Analysis of copy number variation by sequencing in fetuses with nuchal translucency thickening.
Article in Journal of clinical laboratory analysis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Molecular genetic and pregnancy outcomes of fetuses with increased Nuchal Translucency.PloS one · 2026Article
- Application of Chromosomal Karyotype Analysis Combined With Chromosomal Microarray Analysis in the Amniotic Fluid of Advanced Maternal Age.Journal of clinical laboratory analysis · 2025Article
- Increased nuchal translucency thickness and normal chromosomal microarray: Danish nationwide cohort study.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2025Article
- Copy number variants in fetuses with isolated and non-isolated increased nuchal translucency detected by chromosomal microarray analysis.Frontiers in genetics · 2025Article
- Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience.Current issues in molecular biology · 2024Article
- Efficiency of Non-Invasive Prenatal Testing in Detecting Fetal Copy Number Variation: A Retrospective Cohort Study.International journal of women's health · 2024Article
- Diagnostic yield of copy number variation sequencing in fetuses with increased nuchal translucency: a retrospective study.Archives of gynecology and obstetrics · 2024Article
- Associations between genomic aberrations, increased nuchal translucency, and pregnancy outcomes: a comprehensive analysis of 2,272 singleton pregnancies in women under 35.Frontiers in medicine · 2024Article
- Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome.Frontiers in genetics · 2024Article
- 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.Diagnostics (Basel, Switzerland) · 2022Review
- Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next-generation sequencing analysis.The journal of gene medicine · 2021Article
- Analysis of copy number variation by sequencing in fetuses with nuchal translucency thickening.Journal of clinical laboratory analysis · 2020Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
objectiveCopy number variation sequencing (CNV-seq) technique was used to analyze the genetic etiology of fetuses with increased nuchal translucency (NT).
methodsA total of 139 women with gestational 11-14 weeks whose fetuses were detected with increased NT (NT ≥ 2.5 mm) in our hospital from July 2016 to December 2018 were selected. Fetal specimens were performed for karyotyping analysis and CNV sequencing.
resultsAccording to the nuchal translucency thickness, 2.5-3.4, 3.5-4.4, 4.5-5.4, and more than 5.5 mm, the rates of chromosomal abnormalities were 22.8% (13/57), 30.8% (12/39), 42.1% (8/19), and 62.5% (15/24), respectively. There was significant difference among the incidences of chromosomal abnormalities in four groups (χ
conclusionCNV-seq combined karyotype analysis should be performed simultaneously in fetuses with increased NT, providing a basis for genetic counseling, which is of great significance for prenatal diagnosis.
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