ArticleMedical sciences (Basel, Switzerland)2019
Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency.
Article in Medical sciences (Basel, Switzerland), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications.Frontiers in genetics · 2025Article
- Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes.JAMA network open · 2024Article
- Collaborative efforts to improve genetic testing in the neonatal intensive care unit.Journal of perinatology : official journal of the California Perinatal Association · 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
- Cystic Hygroma: A Grave and Thought Provoking Entity.Journal of obstetrics and gynaecology of India · 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
- The difference between karyotype analysis and chromosome microarray for mosaicism of aneuploid chromosomes in prenatal diagnosis.Journal of clinical laboratory analysis · 2020Article
- Epidemiology of fetal cerebral ventriculomegaly and evaluation of chromosomal microarray analysis versus karyotyping for prenatal diagnosis in a Chinese hospital.The Journal of international medical research · 2019Article
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
We have carried out a retrospective study of chromosome anomalies associated with increased nuchal translucency (NT) in order to compare yield rates of karyotype, chromosome microarray analysis (CMA), and non-invasive prenatal testing (NIPT) in this condition. Presenting with increased NT or cystic hygroma ≥3.5 mm as an isolated sign, 249 fetuses underwent karyotype and/or CMA from 11 to 18 gestational weeks. Karyotype and fluorescence in situ hybridization (FISH) analyses detected 103 chromosomal anomalies including 95 aneuploidies and eight chromosomal rearrangements or derivatives. Further, seven pathogenic copy number variants (CNV), five likely pathogenic CNVs, and 15 variants of unknown significance (VOUS) were detected by CMA in fetuses with normal karyotype. Genetic testing is now facing new challenges due to results with uncertain clinical impacts. Additional investigations will be necessary to interpret these findings. More than 15% of the anomalies that we have diagnosed with invasive techniques could not be detected by NIPT. It is therefore definitely not recommended in the case of ultrasound anomalies. These results, while corroborating the use of CMA in fetuses with increased NT as a second tier after rapid aneuploidy testing, do not suggest a dismissal of karyotype analysis.
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