ArticleUltrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology2025
Increased nuchal translucency thickness and normal chromosomal microarray: Danish nationwide cohort study.
Article in Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
6 citing papers in PubMed.
- Parental Decision-Making and Pregnancy Outcomes After Increased First-Trimester Nuchal Translucency: A 12-Year Cohort.Prenatal diagnosis · 2026Article
- Second Prenatal Diagnosis of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome in a Fetus With a 5q14.3q15 Deletion: A Case Report and Review of the Literature.Clinical case reports · 2026Article
- Article
- Association Between Fetal Nuchal Translucency Measurements and Pregnancy Outcomes.International journal of women's health · 2026Article
- Prenatal diagnosis of aFrontiers in genetics · 2025Article
- Copy number variants in fetuses with isolated and non-isolated increased nuchal translucency detected by chromosomal microarray analysis.Frontiers in genetics · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
objectiveTo assess the outcome of pregnancies with increased fetal nuchal translucency (NT) thickness and a normal result from chromosomal microarray (CMA) vs conventional karyotyping.
methodsThis was a Danish nationwide registry-based cohort study of all singleton pregnancies seen for combined first-trimester screening between 2008 and 2018. Data on NT thickness and pregnancy outcome were retrieved from the Danish Fetal Medicine Database, whereas data on cytogenetic and molecular karyotypes were retrieved from the Danish Cytogenetic Central Register. Pregnancies were stratified according to NT thickness, and we computed the prevalence of chromosomal aberration, termination of pregnancy (due to non-genetic abnormal findings aside from increased NT), pregnancy loss, major congenital malformation and unaffected live birth (live birth ≥ 24 weeks' gestation with no chromosomal aberration or major congenital malformation diagnosed). The prevalence of the different outcomes was further estimated for pregnancies with increased NT (≥ 3.5 mm) and a normal CMA result. Finally, to assess the impact of CMA compared with conventional karyotyping for increased NT, we compared the prevalence of chromosomal aberrations and each pregnancy outcome between the periods 2008-2012 and 2014-2018 (during which < 3% and > 60%, respectively, of pregnancies with increased NT were examined using CMA).
resultsWe identified 557 896 pregnancies with a NT measurement for which outcome data were registered. Fetal NT was ≥ 3.5 mm in 3717 (0.7%) pregnancies, of which 3368 (91%) underwent genetic examination. The prevalence of chromosomal aberrations increased significantly with increasing NT thickness, from 21% in pregnancies with NT of 3.5-4.4 mm to 69% in pregnancies with NT ≥ 6.5 mm. Trisomies 21, 18 and 13 accounted for the majority of chromosomal aberrations diagnosed in all subgroups of increased NT (range, 61-87%). In pregnancies with increased NT and a normal CMA result, the prevalence of unaffected live birth decreased significantly from 87% for NT of 3.5-4.4 mm to 29% for NT ≥ 6.5 mm. Increased uptake of CMA during 2014-2018 compared with 2008-2012 slightly increased the detection of submicroscopic aberrations. However, a normal CMA result, compared with a normal result from conventional karyotyping, did not substantially improve the prognosis in pregnancies with increased NT.
conclusionsOur study reaffirms the association between increased NT and chromosomal aberrations. Although CMA improves diagnostic resolution in pregnancies with increased NT, a normal test result does not substantially impact the prevalence of unaffected live births. This highlights the ongoing need for accurate clinical guidance and continued research, especially as whole-genome sequencing is increasingly adopted in prenatal care. © 2025 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.