Chromosomal and genetic anomalies in fetuses with nuchal translucency between 3.0 and 3.4 mm: A systematic review and meta‐analysis
9 affiliations
- 1Unit of Obstetrics and Gynaecology, Department of Interdisciplinary Medicine University of Bari ‘Aldo Moro’, Policlinico of Bari Bari Italy
- 2Center for Fetal Care and High‐Risk Pregnancy University of Chieti Chieti Italy
- 3Department of Maternal and Child Health and Urological Sciences Sapienza University of Rome Rome Italy
- 4Gynecology and Obstetrics Unit, Department of Public Health University of Naples Federico II Naples Italy
- 5Department of Environmental and Preventive Sciences University of Ferrara Ferrara Italy
- 6Department of Medical and Surgical Sciences University of Bologna Bologna Italy
- 7Obstetrics and Gynaecology Unit, Department of Biomedical Sciences and Human Oncology University of Bari “Aldo Moro”, Piazza Giulio Cesare 11 Bari Italy
- 8Fetal Medicine Unit St. George's University of London London UK
- 9Fetal Medicine Unit, Department of Obstetrics and Gynecology, Hospital Universitario 12 de Octubre Complutense University Madrid Spain
Abstract
Introduction: To report the prevalence of chromosomal anomalies in fetuses with a nuchal translucency (NT) between 3.0 and 3.4 mm and to assess the incremental yield of invasive prenatal diagnosis over cell‐free DNA (cfDNA) in these fetuses.
Material and Methods: MEDLINE, EMBASE, and The Cochrane Library were searched. Inclusion criteria encompassed fetuses with an NT between 3.0 and 3.4 mm undergoing prenatal invasive testing or postnatal genetic assessment. The observed outcomes included common trisomies such as Trisomy 21, 18, and 13, sex chromosomal anomalies (SCAs), rare autosomal anomalies, copy number variants detected by chromosomal microarray (CMA), and single‐gene disorders. We also reported the rate of anomalies potentially detectable by cfDNA. Finally, we planned to perform a subgroup analysis involving cases with isolated NT between 3.0 and 3.4 mm, including only cases undergoing detailed first‐trimester ultrasound assessment. A random‐effects meta‐analysis of proportions was utilized to analyze the data.
Results: Seventeen studies (7007 fetuses) were included. In fetuses with NT measurements between 3.0 and 3.4 mm, chromosomal anomalies were identified in 13.1% (95% CI 9.3–17.3). Common trisomies included Trisomy 21 at 8.0% (95% CI 5.1–11.5), Trisomy 18 at 1.0% (95% CI 0.6–1.7), and Trisomy 13 at 0.52% (95% CI 0.2–1.0) of all chromosomal anomalies. SCAs occurred in 0.58% (95% CI 0.4–0.8), while rare autosomal trisomies and pathogenic or likely pathogenic copy number variants (CNVs) were found in 0.27% (95% CI 0.1–0.6) and 2.5% (95% CI 1.3–3.9), respectively. Additionally, single‐gene disorders detected via NGS/WES were reported in 5.7% (95% CI 3.3–8) of cases with NT between 3.0 and 3.4 mm. When examining only fetuses with an isolated NT between 3.0 and 3.4 mm, all chromosomal anomalies were identified in 12.4% (95% CI 7.9–17.7).
Conclusions: Fetuses with an NT between 3.0 and 3.4 mm showed a high rate of chromosomal anomalies and CNVs, most of which could potentially be detected through cfDNA.
Related
- Clinical utility of prenatal exome sequencing after normal chromosomal microarray in fetuses with structural anomalies
- Thymic-thoracic ratio combined with cardiac axis as a rapid primary screening index for fetuses with conotruncal anomalies: based on sequential cross-sectional scanning.
- Whole-exome sequencing reveals genetic etiology and pregnancy outcomes in fetuses with ultrasound-detected abnormalities at a tertiary center.
- Chromosomal and genetic causes of primary ovarian insufficiency in the Utah population
- Evaluation of prenatal genetic aberrations in fetuses with gallbladder abnormalities: A retrospective cohort study
BibTeX
@article{carta2026chromosomal,
title = {{Chromosomal and genetic anomalies in fetuses with nuchal translucency between 3.0 and 3.4 mm: A systematic review and meta‐analysis}},
author = {Arianna Carta and Lorenza Della Valle and Giuseppe Rizzo and Ilenia Mappa and Giuseppe Maruotti and Maria Elena Flacco and Lamberto Manzoli and Gennaro Cormio and Asma Khalil and Alberto Galindo and Francesco D'Antonio},
journal = {Acta Obstetricia et Gynecologica Scandinavica},
year = {2026},
month = aug,
doi = {10.1111/aogs.70339},
url = {https://doi.org/10.1111/aogs.70339},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Chromosomal and genetic anomalies in fetuses with nuchal translucency between 3.0 and 3.4 mm: A systematic review and meta‐analysis
AU - Arianna Carta
AU - Lorenza Della Valle
AU - Giuseppe Rizzo
AU - Ilenia Mappa
AU - Giuseppe Maruotti
AU - Maria Elena Flacco
AU - Lamberto Manzoli
AU - Gennaro Cormio
AU - Asma Khalil
AU - Alberto Galindo
AU - Francesco D'Antonio
PY - 2026
DA - 2026/08/19
JO - Acta Obstetricia et Gynecologica Scandinavica
DO - 10.1111/aogs.70339
UR - https://doi.org/10.1111/aogs.70339
AB - Introduction: To report the prevalence of chromosomal anomalies in fetuses with a nuchal translucency (NT) between 3.0 and 3.4 mm and to assess the incremental yield of invasive prenatal diagnosis over cell‐free DNA (cfDNA) in these fetuses. Material and Methods: MEDLINE, EMBASE, and The Cochrane Library were searched. Inclusion criteria encompassed fetuses with an NT between 3.0 and 3.4 mm undergoing prenatal invasive testing or postnatal genetic assessment. The observed outcomes included common trisomies such as Trisomy 21, 18, and 13, sex chromosomal anomalies (SCAs), rare autosomal anomalies, copy number variants detected by chromosomal microarray (CMA), and single‐gene disorders. We also reported the rate of anomalies potentially detectable by cfDNA. Finally, we planned to perform a subgroup analysis involving cases with isolated NT between 3.0 and 3.4 mm, including only cases undergoing detailed first‐trimester ultrasound assessment. A random‐effects meta‐analysis of proportions was utilized to analyze the data. Results: Seventeen studies (7007 fetuses) were included. In fetuses with NT measurements between 3.0 and 3.4 mm, chromosomal anomalies were identified in 13.1% (95% CI 9.3–17.3). Common trisomies included Trisomy 21 at 8.0% (95% CI 5.1–11.5), Trisomy 18 at 1.0% (95% CI 0.6–1.7), and Trisomy 13 at 0.52% (95% CI 0.2–1.0) of all chromosomal anomalies. SCAs occurred in 0.58% (95% CI 0.4–0.8), while rare autosomal trisomies and pathogenic or likely pathogenic copy number variants (CNVs) were found in 0.27% (95% CI 0.1–0.6) and 2.5% (95% CI 1.3–3.9), respectively. Additionally, single‐gene disorders detected via NGS/WES were reported in 5.7% (95% CI 3.3–8) of cases with NT between 3.0 and 3.4 mm. When examining only fetuses with an isolated NT between 3.0 and 3.4 mm, all chromosomal anomalies were identified in 12.4% (95% CI 7.9–17.7). Conclusions: Fetuses with an NT between 3.0 and 3.4 mm showed a high rate of chromosomal anomalies and CNVs, most of which could potentially be detected through cfDNA.
SN - 0001-6349
SN - 1600-0412
ER -