The DOI matches its Crossref record; 20 of the 20 references it cites were found in a registry or an index.
UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation
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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“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].”
In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
Citations
Cites
Nicolaides, K. H., Azar, G. B., Byrne, D. L., Mansur, C. A., & Marks, K. (1992) · BMJ · doi:10.1136/bmj.304.6831.867 · Cited by 1,051
Maternal serum screening for Down's syndrome in early pregnancy.
Wald, N. J., Cuckle, H., Densem, J. W., Nanchahal, K., Royston, P. J., Chard, T., Haddow, J. E., Knight, G. J., Palomaki, G. E., & Canick, J. A. (1988) · BMJ · doi:10.1136/bmj.297.6653.883 · Cited by 959
The hidden mortality of monochorionic twin pregnancies
Sebire, N. J., Snijders, R. J. M., Hughes, K., Sepúlveda, W., & Nicolaides, K. H. (1997) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.1997.tb10948.x · Cited by 627
Pandya, P. P., Snijders, R. J. M., Johnson, S. P., Brizot, M. D. L., & Nicolaides, K. H. (1995) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.1995.tb10902.x · Cited by 409
The lambda sign at 10–14 weeks of gestation as a predictor of chorionicity in twin pregnancies
Sepúlveda, W., Sebire, N. J., Hughes, K., Odibo, A. O., & Nicolaides, K. H. (1996) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.1996.07060421.x · Cited by 357
Nicolaides, K. H., Brizot, M. D. L., & Snijders, R. J. M. (1994) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.1994.tb11946.x · Cited by 353
Maternal Age and Gestational Age-Specific Risk for Chromosomal Defects
Snijders, R. J. M., Sebire, N. J., & Nicolaides, K. H. (2009) · Fetal Diagnosis and Therapy · doi:10.1159/000264259 · Cited by 278
Increased nuchal translucency at 10—14 weeks of gestation as a marker for major cardiac defects
Hyett, J. A., Perdu, M., Sharland, G. K., Snijders, R. J. M., & Nicolaides, K. H. (1997) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.1997.10040242.x · Cited by 234
Chromosomal defects and outcome in 1015 fetuses with increased nuchal translucency
Pandya, P. P., Kondylios, A., Hilbert, L., Snijders, R. J. M., & Nicolaides, K. H. (1995) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.1995.05010015.x · Cited by 231
Sebire, N. J., Snijders, R. J. M., Hughes, K., Sepúlveda, W., & Nicolaides, K. H. (1996) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.1996.tb09550.x · Cited by 219
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White (1999) · doi:10.1002/(sici)1097-0223(199912)19:12
Metadata
- Authors
- Snijders, R., Noble, P., Sebire, N., Souka, A., & Nicolaides, K.
- Affiliations
- King's College London (GB)
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 1998-08
- Volume
- 352
- Issue
- 9125
- Pages
- 343-346
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- 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
- 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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