ArticlePrenatal diagnosis2020
Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?
Article in Prenatal diagnosis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 3 of them syntheses that pooled it.
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Who cites it
38 citing papers in PubMed, 3 syntheses or guidelines pooled it, 83 citations in OpenAlex.
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- Diagnostic accuracy of ultrasound screening for fetal structural abnormalities during the first and second trimester of pregnancy in low-risk and unselected populations.The Cochrane database of systematic reviews · 2024Pooled it
- Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review.Acta obstetricia et gynecologica Scandinavica · 2020Pooled it
- Article
- Molecular genetic and pregnancy outcomes of fetuses with increased Nuchal Translucency.PloS one · 2026Article
- Prenatal Diagnosis and Pregnancy Outcomes in Fetuses With Increased Nuchal Translucency Thickness.Journal of pregnancy · 2026Article
- The Utility of Whole Exome Sequencing in Fetuses With Isolated Increased Nuchal Translucency.Molecular genetics & genomic medicine · 2025Article
- Head circumference as an early predictor of fetal death in fetuses with increased nuchal translucency: evidence from a multicenter cohort study.European journal of medical research · 2025Article
- Implementation of the new S2e guideline "first-trimester diagnostics and therapy @ 11-13 + 6 weeks of pregnancy": a survey in outpatient practices.Archives of gynecology and obstetrics · 2025Article
- Impact of a new image enhancement technology on the nuchal translucency thickness.Archives of gynecology and obstetrics · 2025Article
- Review
- Outcomes associated with fetal nuchal translucency between 3.0 and 3.4 mm in the first trimester.Acta obstetricia et gynecologica Scandinavica · 2025Observational
- Strategies to Detect Chromosomal Anomalies Not Identified by NIPT.Prenatal diagnosis · 2025Article
- Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing.Pediatric research · 2025Review
- How Useful is Nuchal Translucency in Detecting Chromosomal Abnormalities Missed by Genome-Wide NIPT and What Measurement Threshold Should Be Used?Prenatal diagnosis · 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
- Selection of prenatal screening with nuchal translucency > 95th centile and below 99th centile: a 4-year observational study with real-world data.Archives of gynecology and obstetrics · 2024Observational
- Correlation between fetal ventricular echogenic foci in pregnancy and fetus chromosomal anomaly: a case-control study in Bandar Abbas city.Annals of medicine and surgery (2012) · 2024Article
- Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes.JAMA network open · 2024Article
- Prenatal whole-exome sequencing in fetuses with increased nuchal translucency.Molecular genetics & genomic medicine · 2023Article
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first-trimester screening and to investigate which of these abnormalities would be missed if cell-free fetal DNA (cfDNA) were used as a first-tier screening test for chromosomal abnormalities.
methodsThis is a national study including 1901 pregnancies with NT≥95th percentile referred to seven university hospitals in the Netherlands between 1 January 2010 and 1 January 2016. All cases with unknown pregnancy outcome were excluded. Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post-mortem investigations were collected.
resultsIn total, 821 (43%) pregnancies had at least one abnormality. The rate of abnormalities was 21% for fetuses with NT between 95
conclusionAlthough cfDNA is superior to the combined test, especially for the detection of trisomy 21, 34% of the congenital abnormalities occurring in fetuses with increased NT may remain undetected in the first trimester of pregnancy, unless cfDNA is used in combination with fetal sonographic assessment, including NT measurement.
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