{ "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.\n\nMaterial 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.\n\nResults: 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).\n\nConclusions: 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.", "abstract_shown": true, "affiliations": [ "Unit of Obstetrics and Gynaecology, Department of Interdisciplinary Medicine University of Bari ‘Aldo Moro’, Policlinico of Bari Bari Italy", "Center for Fetal Care and High‐Risk Pregnancy University of Chieti Chieti Italy", "Department of Maternal and Child Health and Urological Sciences Sapienza University of Rome Rome Italy", "Gynecology and Obstetrics Unit, Department of Public Health University of Naples Federico II Naples Italy", "Department of Environmental and Preventive Sciences University of Ferrara Ferrara Italy", "Department of Medical and Surgical Sciences University of Bologna Bologna Italy", "Obstetrics and Gynaecology Unit, Department of Biomedical Sciences and Human Oncology University of Bari “Aldo Moro”, Piazza Giulio Cesare 11 Bari Italy", "Fetal Medicine Unit St. George's University of London London UK", "Fetal Medicine Unit, Department of Obstetrics and Gynecology, Hospital Universitario 12 de Octubre Complutense University Madrid Spain" ], "article_type": "review article", "arxiv": null, "author_total": 11, "authors": [ { "affs": [ 0, 1 ], "name": "Arianna Carta" }, { "affs": [ 1 ], "name": "Lorenza Della Valle", "orcid": "0009-0007-9809-922X" }, { "affs": [ 2 ], "name": "Giuseppe Rizzo", "orcid": "0000-0002-5525-4353" }, { "affs": [ 2 ], "name": "Ilenia Mappa", "orcid": "0000-0002-9866-3050" }, { "affs": [ 3 ], "name": "Giuseppe Maruotti" }, { "affs": [ 4 ], "name": "Maria Elena Flacco", "orcid": "0000-0003-1404-4314" }, { "affs": [ 5 ], "name": "Lamberto Manzoli", "orcid": "0000-0002-8129-9344" }, { "affs": [ 6 ], "name": "Gennaro Cormio", "orcid": "0000-0001-5745-372X" }, { "affs": [ 7 ], "name": "Asma Khalil", "orcid": "0000-0003-2802-7670" }, { "affs": [ 8 ], "name": "Alberto Galindo", "orcid": "0000-0002-1308-1474" }, { "affs": [ 1 ], "name": "Francesco D'Antonio" } ], "bibtex": "https://research.draconitic.com/paper/cf5nf6gwh22ee.bib", "cited_by": 0, "doi": "10.1111/aogs.70339", "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13487402/", "id": "cf5nf6gwh22ee", "issns": [ "0001-6349", "1600-0412" ], "landing_url": "https://doi.org/10.1111/aogs.70339", "language": "en", "licence": "CC-BY-4.0", "licence_label": "CC BY 4.0", "licence_source": "article", "licence_url": "https://creativecommons.org/licenses/by/4.0/", "metadata_licence": null, "native_subjects": [ [ "heading", "Systematic Review" ], [ "lcc", "RG1-991" ], [ "openalex", "2735|Prenatal Screening and Diagnostics" ] ], "openalex": "W7203797349", "pdf_url": null, "pmcid": "PMC13487402", "pmid": "42613999", "published": "2026-08-19", "publisher": "Wiley", "ris": "https://research.draconitic.com/paper/cf5nf6gwh22ee.ris", "sources": [ { "first_seen": "2026-10-30T12:17:29Z", "native_id": "PMC13487402", "source": "pmc", "url": "https://doi.org/10.1111/aogs.70339" }, { "first_seen": "2026-10-31T14:21:38Z", "native_id": "96a96c945a80432aa39b785bc78070c1", "source": "doaj", "url": "https://doi.org/10.1111/aogs.70339" } ], "subjects": [ { "field": "medicine", "origin": "openalex:2735|Prenatal Screening and Diagnostics", "subfield": "reproductive-child" } ], "title": "Chromosomal and genetic anomalies in fetuses with nuchal translucency between 3.0 and 3.4 mm: A systematic review and meta‐analysis", "title_text": "Chromosomal and genetic anomalies in fetuses with nuchal translucency between 3.0 and 3.4 mm: A systematic review and meta‐analysis", "type": "peer-reviewed", "updated_at": "2026-10-31T14:21:38Z", "url": "https://research.draconitic.com/paper/cf5nf6gwh22ee", "venue": "Acta Obstetricia et Gynecologica Scandinavica", "versions": [] }