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Cited by 1,572Prenatal Screening and DiagnosticsDown syndrome and intellectual disability researchFetal and Pediatric Neurological Disorders

UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation

Snijders, RJM, Noble, P, Sebire, N, Souka, A, Nicolaides, KH·1998·The Lancet
DOI 10.1016/s0140-6736(97)11280-6
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Abstract

Background Prenatal diagnosis of trisomy 21 currently relies on assessment of risk followed by invasive testing in the 5% of pregnancies at the highest estimated risk. Selection of the high-risk group by a combination of maternal age and second-trimester maternal serum biochemistry gives a detection rate of about 60%. We investigated assessment of risk by a combination of maternal age and fetal nuchal-translucency thickness, measured by ultrasonography at 10-14 weeks of gestation.Methods The risk of trisomy 21 was estimated for 96127 women of median age 31 years (range 14-49) with singleton pregnancies. Ultrasonography was done by 306 appropriately trained sonographers in 22 centres. Risk of trisomy 21 was calculated from the maternal age and gestational-age-related prevalence, multiplied by a likelihood ratio depending on the deviation from normal in nuchal-translucency thickness for crown-rump length. The distribution of risks was investigated and the sensitivity of a cut-off risk of 1 in 300 was calculated. Phenotype was assessed by fetal karyotyping or clinical examination of liveborn infants.Findings The estimated trisomy-21 risk, from maternal age and fetal nuchal-translucency thickness, was 1 in 300 or higher in 7907 (8.3%) of 95476 normal pregnancies, 268 (82-2%) of 326 with trisomy 21, and 253 (77.9%) of 325 with other chromosomal defects. The 5% of the study population with the highest estimated risk included 77% of trisomy-21 cases.Interpretation Selection of the high-risk group for invasive testing by this method allows the detection of about 80% of affected pregnancies. However, even this method of risk assessment requires about 30 invasive tests for identification of one affected fetus.

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Crossref · 10.1016/s0140-6736(97)11280-6

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  • Combining clinical information (maternal age and serum parameters) with sonographic assessment of fetal characteristics, predominantly the assessment of nuchal translucency (NT), is recommended practice.

    “Combining clinical information (maternal age and serum parameters) with sonographic assessment of fetal characteristics, predominantly the assessment of nuchal translucency (NT), is recommended practice [131].”

    From Evolving the Era of 5D Ultrasound? A Systematic Literature Review on the Applications for Artificial Intelligence Ultrasound Imaging in Obstetrics and Gynecology (2023) · cites this paper as [131]

  • The nuchal translucency was above the 95th centile in 82.2% of fetuses with trisomy 21 and 77.9% with other chromosomal defects.

    “According to a large study of almost 10,000 women, the NT was above the 95th centile in 82.2% of fetuses with trisomy 21 and 77.9% with other chromosomal defects, therefore presenting as a valuable marker for identification of fetal abnormalities [45].”

    From First-Trimester Ultrasound: A Comparative Review of Guidelines (2026) · cites this paper as [45]

  • The crown-rump length of the examined fetus should be between 45 mm and 84 mm according to the protocol described by Nicolaides et al.

    “More specifically, the CRL of the examined fetus should be between 45 mm and 84 mm according to the protocol described by Nicolaides et al. [45].”

    From First-Trimester Ultrasound: A Comparative Review of Guidelines (2026) · cites this paper as [45]

  • The nuchal translucency in combination with maternal age has a sensitivity of 82.2% and a negative predictive value of 99.9%.

    “On the other hand, the NT in combination with maternal age has a sensitivity of 82.2% and a negative predictive value of 99.9% [45].”

    From First-Trimester Ultrasound: A Comparative Review of Guidelines (2026) · cites this paper as [45]

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Authors
Snijders, R., Noble, P., Sebire, N., Souka, A., & Nicolaides, K.
Affiliations
King's College London (GB)
ORCID
Venue
The Lancet
Publisher
Elsevier BV
Published
1998-08
Volume
352
Issue
9125
Pages
343-346
ISSN
  • 0099-5355 (ISSN-L)
  • 0140-6736
DOI
10.1016/s0140-6736(97)11280-6
OpenAlex
W2148260008
Cited by
1,572
References
20
Citations by year
2026: 10 · 2025: 14 · 2024: 21 · 2023: 20 · 2022: 24 · 2021: 36 · 2020: 21 · 2019: 36 · 2018: 26 · 2017: 85 · 2016: 34 · 2015: 42 · 2014: 47 · 2013: 60 · 2012: 58
FWCI
73.54
Type
journal article
Language
en
Open access
closed
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • The Lancet (publishedVersion)
  • PubMed (publishedVersion)
  • UCL Discovery (University College London) (submittedVersion)
  • DigitalGeorgetown (Georgetown University Library) (submittedVersion)
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
Keywords
Down syndrome, prenatal diagnosis, nuchal translucency, maternal age, first-trimester screening, risk assessment, invasive prenatal diagnosis, sensitivity, chromosomal abnormalities, fetal karyotyping
MeSH terms
Adolescent, Adult, Chromosome Aberrations, Down Syndrome, Female, Fetus, Follow-Up Studies, Gestational Age, United Kingdom, Humans, Karyotyping, Maternal Age, Middle Aged, Neck, Phenotype, Predictive Value of Tests, Pregnancy, Pregnancy Outcome, Sensitivity and Specificity, Prevalence, Likelihood Functions, Ultrasonography, Prenatal, Crown-Rump Length, Risk Assessment, Chromosome Disorders, Pregnant People

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