ArticleMolecular genetics & genomic medicine2019
Clinical application of chromosomal microarray analysis in fetuses with increased nuchal translucency and normal karyotype.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 29 citations in OpenAlex.
- Association Between Increased Nuchal Translucency and Foetal CNS Abnormalities in Euploid Foetuses: Systematic Review and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2026Review
- Article
- Prenatal Diagnosis and Pregnancy Outcomes in Fetuses With Increased Nuchal Translucency Thickness.Journal of pregnancy · 2026Article
- Molecular genetic and pregnancy outcomes of fetuses with increased Nuchal Translucency.PloS one · 2026Article
- Review
- Outcomes associated with fetal nuchal translucency between 3.0 and 3.4 mm in the first trimester.Acta obstetricia et gynecologica Scandinavica · 2025Observational
- Copy number variants in fetuses with isolated and non-isolated increased nuchal translucency detected by chromosomal microarray analysis.Frontiers in genetics · 2025Article
- Array Comparative Genomic Hybridization (aCGH) Results among Patients Referred to Invasive Prenatal Testing after First-Trimester Screening: A Comprehensive Cohort Study.Diagnostics (Basel, Switzerland) · 2024Article
- Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities.Przeglad menopauzalny = Menopause review · 2024Review
- Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes.JAMA network open · 2024Article
- Diagnostic yield of copy number variation sequencing in fetuses with increased nuchal translucency: a retrospective study.Archives of gynecology and obstetrics · 2024Article
- Comparison of Chromosomal Microarray Analysis and Noninvasive Prenatal Testing in Pregnant Women with Fetal Ultrasonic Soft Markers.Risk management and healthcare policy · 2024Article
- Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs.Molecular cytogenetics · 2023Article
- When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes.Frontiers in genetics · 2023Article
- Chromosomal abnormalities and structural defects in fetuses with increased nuchal translucency at a Chinese tertiary medical center.Frontiers in medicine · 2023Article
- 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
- Application of chromosome microarray analysis and karyotyping in diagnostic assessment of abnormal Down syndrome screening results.BMC pregnancy and childbirth · 2022Article
- Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency.Journal of human genetics · 2022Article
- Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- Clinical Application of Chromosomal Microarray Analysis in Pregnant Women with Advanced Maternal Age and Fetuses with Ultrasonographic Soft Markers.Medical science monitor : international medical journal of experimental and clinical research · 2021Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSubmicroscopic chromosomal imbalance is associated with an increased nuchal translucency (NT). Most previous research has recommended the use of chromosomal microarray analysis (CMA) for prenatal diagnosis if the NT ≥ 3.5 mm. However, there is no current global consensus on the cutoff value for CMA. In this study, we aimed to discuss the fetuses with smaller increased NT which was between cutoff value of NT for karyotype analysis (NT of 2.5 mm in China) and the recommended cutoff value for CMA (NT of 3.5 mm) whether should be excluded from CMA test.
methodsSingleton pregnant women (N = 192) who had undergone invasive procedures owing to an increased NT (NT ≥ 2.5 mm) were enrolled. Fetal cells were collected and subjected to single nucleotide polymorphism array and karyotype analyses simultaneously. Cases were excluded if the karyotype analysis indicated aneuploidy and apparent structural aberrations.
resultsFourteen cases of aneuploidy and four cases of structural abnormalities were excluded. Of the remaining 174 cases, 119 fetuses had NTs of 2.5-3.4 mm, and 55 fetuses with NT ≥ 3.5 mm. Eleven copy number variants (CNVs) were identified. In fetuses with smaller NTs, six (6/119, 5.9%) variations were detected, including two (2/119, 1.6%) clinically significant CNVs (pathogenic or likely pathogenic CNV), one likely benign CNV, two variants unknown significance, and one incidental CNV. Five (5/55, 9.1%) variations were found in fetuses with NT ≥ 3.5 mm. Among these CNVs, three (3/55, 5.5%) cases had clinically significant CNVs, and two had likely benign CNV. There were no statistically significant differences in the incidence of all CNVs and clinically significant CNVs in the two groups (p > 0.05).
conclusionCMA improved the diagnostic yield of chromosomal aberrations for fetuses with NTs of 2.5-3.4 mm and apparently normal karyotype, regardless of whether other ultrasonic abnormalities were observed.
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