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

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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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Method
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BackgroundMethodResultInfluential
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Background
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Background
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“Nuchal translucency (NT) measurement at 10–14 weeks’ gestation in combination with maternal age has been demonstrated to be an effective screening test for Down syndrome (Snijders et al., 1998).”
BackgroundMethodInfluential
Comparison of nuchal translucency measurements obtained using Volume NTTM and two‐ and three‐dimensional ultrasound
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“In the Fetal Medicine Foundation Multicenter Project it was estimated that assessment of risk by a combination of maternal age and fetal NT, followed by invasive diagnostic testing for those with a risk of >1 in 300, and selective termination of affected fetuses would have reduced the potential live birth prevalence o…”
BackgroundMethodInfluential
Can increased nuchal translucency in the first trimester of pregnancy predict gestational diabetes mellitus
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“Up to 80% of aneuploid fetuses have increased NT, but this feature is also found in 5% of karyotypically normal fetuses at this stage of the pregnancy (Snijder et al. 1998).”
Background
Significance of chromosome 22q11 analysis after detection of an increased first‐trimester nuchal translucency
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Linear Insertion of Atrioventricular Valves without Septal Defect: A New Anatomical Landmark for Down’s Syndrome?
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Authors: Snijders, R., Noble, P., Sebire, N., Souka, A., & Nicolaides, K.
Affiliations: King's College London (GB)
ORCID: Snijders, RJM
Sebire, N
Souka, A
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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UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation

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