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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Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy.
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
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The lambda sign at 10–14 weeks of gestation as a predictor of chorionicity in twin pregnancies
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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
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BackgroundMethod
Ratio of nuchal thickness to humerus length for Down syndrome detection
Bahado-Singh, R. O., Öz, U., Hsu, C. D., Deren, Ö., Copel, J. A., & Mahoney, M. J. (2001) · American Journal of Obstetrics and Gynecology · doi:10.1067/mob.2001.113878 · Cited by 8
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Background
Nuchal Translucency and Congenital Heart Defects
Sofia-Gonçalves, A., & Guedes‐Martins, L. (2024) · Current Cardiology Reviews · doi:10.2174/011573403x264963231128045500 · Cited by 7
First‐trimester screening biochemical markers (free beta‐subunit human chorionic gonadotropin, pregnancy‐associated plasma protein‐ A ) and risk of early fetal loss
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“Nuchal translucency measurements of 3mm or greater (above the 95 centile at 13weeks of gestation) and cystic hygroma are considered abnormal and are associated with an increased risk of aneuploidy and other abnormalities.(4) A cystic hygroma is defined as a septated fluid filled cavity in the nuchal region that may ex…”
Background
Array study in fetuses with nuchal translucency above the 95th percentile: a 4-year observational single-centre study
Coello-Cahuao, E., Sánchez‐Durán, M. Á., Calero, I., Higueras, T., García, M. A., Rodó, C., Maíz, N., Plaja, A., Castells, N., Mediano, C., et al. (2022) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-022-06564-7 · Cited by 7
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“Currently a similar and successful concept applies to the measurement of nuchal translucency in first trimester screening [28, 29].”
Background
Age-independent first trimester screening for Down syndrome: analysis of three modified software programs with 6,508 pregnancies
Hörmansdörfer, C., Golatta, M., Scharf, A., Hillemanns, P., & Schmidt, P. (2010) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-010-1452-y · Cited by 7
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Background
Correlation and Overlapping between Nuchal Translucency and Triple Test among Down Syndrome-Affected Pregnancies
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Method
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“Increased NT has also been linked with fetal lymphatic or venous congestion, anemia, cardiac dysfunction, and congenital infections [28].”
Ultrasound diagnostic schema for the determination of increased risk for chromosomal fetal aneuploidies in the first half of pregnancy
Sieroszewski, P., Perenc, M., Baś-Budecka, E., & Suzin, J. (2006) · Journal of Applied Genetics · doi:10.1007/bf03194619 · Cited by 7
“This finding is confirmed by numerous reports presented in international literature on the crucial role of nuchal translucency measurement as a marker of trisomy 21 (Brambati et al. 1995; Pajkrt et al. 1998; Snijders et al. 1998; Szabo et al. 1990).”
BackgroundResultInfluential
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Khalil, A. A., Akolekar, R., Syngelaki, A., Penco, J. M. P., & Nicolaides, K. H. (2010) · Fetal Diagnosis and Therapy · doi:10.1159/000315295 · Cited by 7
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Chasen, S. T., & Skupski, D. W. (2003) · Clinics in Perinatology · doi:10.1016/s0095-5108(02)00078-7 · Cited by 7
“[8] Snijders RJM, Noble P, Sebire N, et al.”
BackgroundMethodInfluential
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“number of patients as the result of failed tests or the presence of other fetal abnormalities introduces bias in evaluating test performance.(4-6) We whole-heartedly agree with Palomaki et al(7) that “It is critical that groups reporting screening performance of any prenatal test carefully consider the impact of bias…”
Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis
BENN, P. A. (2021) · Wiley eBooks · doi:10.1002/9781119676980.ch11 · Cited by 9
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Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling
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A non-supervised approach to locate and to measure the nuchal translucency by means of wavelet analysis and neural networks
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“Both embryos presented with normal Crown Rump Length (CRL) as well as normal nuchal translucency (NT) measurements [33,34].”
Background
Outcome of the fetuses with severely increased nuchal translucency thickness in the first trimester
Nakamura, Y. K., Fujita, S., Yamada, K., Song, M., Tajima, A., Matsumoto, J., Kihira, C., 倉田淑恵, Arakawa, H., & Tamura, C. (2020) · Journal of obstetrics and gynaecology research · doi:10.1111/jog.14411 · Cited by 6
“4 46,XY arr(1-22)x2,(XY)x1 38 3728 g None Alive 8.”
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Follow Your Nose
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The Use of Nuchal Translucency in Contemporary Obstetric Practice
Said, S. A. T., & Malone, F. D. (2008) · Clinical Obstetrics & Gynecology · doi:10.1097/grf.0b013e318160f2ea · Cited by 6
“Nuchal Translucency Screening for Other Aneuploidies In the FMF Multicenter screening study for aneuploidy at 10 to 14weeks, 325 cases with chromosomal abnormalities other than Down syndrome were identified.(7) Given that the majority of first-trimester fetuses with these other aneuploidies will die in utero spontaneo…”
BackgroundInfluential
Standardized Procedural Practices of the Ontario Prenatal Screening Program for aneuploidies and open neural tube defects
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Three-dimensional ultrasonography in genetic screening and counselling
Shih, J., Chen, C.-P., & Hsieh, F. (2001) · The ultrasound review of obstetrics & gynecology/Ultrasound review of obstetrics and gynecology · doi:10.1080/14722240108500428 · Cited by 6
Clinical utility of nuchal translucency screening
Stefanović, V., Eronen, M., Paavonen, J. A., Tikkanen, M., & Äyräs, O. (2014) · Research and Reports in Neonatology · doi:10.2147/rrn.s67514 · Cited by 6
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“The use of ultrasound screening and placental markers for DS screening in the first trimester was first proposed by Nicolaides and colleagues in the early 1990s (Nicolaides et al. 1992; Snijders et al. 1998).”
Background
Prenatal diagnosis for detection of aneuploidy: the options
Budorick, N. E., & O'Boyle, M. K. (2003) · Radiologic Clinics of North America · doi:10.1016/s0033-8389(03)00044-7 · Cited by 6
“Ultrasound measurement of nuchal translucency has been shown to distinguish normal from abnormal gestations [92–94].”
Background
Jugular lymphatic sacs in the first trimester of pregnancy: the prevalence and the potential value in screening for chromosomal abnormalities
van Heesch, P. N. A. C. M., Struijk, P. C., Brandenburg, H., Steegers, E. A. P., & Wildschut, H. I. J. (2008) · Journal of Perinatal Medicine · doi:10.1515/jpm.2008.088 · Cited by 6
Current controversies in prenatal diagnosis 2: Down syndrome screening: Is ultrasound better than cell‐free nucleic acids in maternal blood?
Lith, J. M. M. V., Benacerraf, B. R., & Yagel, S. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2681 · Cited by 6
“Subsequently, Kypros Nicolaides and his group observed that measuring nuchal thickness in the first trimester was a valid screening method with a 77% and 5% detection and false-positive rate respectively for detecting DS (Snijders et al., 1998).”
Nuchal translucency screening in triplets: Down syndrome risk calculation taking account of between‐fetus correlations
Cuckle, H., Moskovich, M., Vaknin, Z., Levental, S., Rosen, H., & Maymon, R. (2012) · Prenatal Diagnosis · doi:10.1002/pd.2929 · Cited by 6
Peut-on améliorer le dépistage et le diagnostic des anomalies chromosomiques fœtales ?
Ville, Y. G. (2005) · Bulletin de l Académie Nationale de Médecine · doi:10.1016/s0001-4079(19)33435-1 · Cited by 6
Current controversies in prenatal diagnosis 3: is there still a value in a nuchal translucency screening ultrasound in conjunction with maternal plasma non‐invasive cell‐free DNA testing?
Wilson, R. D., Poon, L. C., & Ghidini, A. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4719 · Cited by 6
Prenatal diagnosis of aneuploidies in amniotic fluid by multiple ligation-dependent probe amplification (MLPA) analysis.
Hamidah, N. H., Munirah, A., Hafiza, A., Farisah, A. R., Shuhaila, A., Mn, N., Jamil, M., & Ainoon, O. (2014) · PubMed · Cited by 6
Factors Associated with Placental Vascularization Measured by 3D Power Doppler Ultrasonographic Sphere Biopsy between 11 and 14 Weeks of Gestation
Boutin, A., Dembickaja, R., Campanero, M., Nicolaides, K. H., & Demers, S. (2018) · American Journal of Perinatology · doi:10.1055/s-0038-1632369 · Cited by 6
First trimester uterine artery pulsatility index levels in euploid and aneuploid pregnancies
Prodan, N., Wagner, P., Sonek, J., Hoopmann, M., Mutz, A., Brucker, S. Y., & Kagan, K. O. (2019) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-019-05328-0 · Cited by 6
Benefit versus risk of chromosomal microarray analysis performed in pregnancies with normal and positive prenatal screening results: A retrospective study
Moshonov, R., Hod, K., Azaria, B., Abadi‐Korek, I., Berger, R., & Shohat, M. (2021) · PLoS ONE · doi:10.1371/journal.pone.0250734 · Cited by 6
Richtlinie der Gendiagnostik-Kommission (GEKO) für die Anforderungen an die Durchführung der vorgeburtlichen Risikoabklärung sowie an die insoweit erforderlichen Maßnahmen zur Qualitätssicherung gemäß 23 Abs. 2 Nr. 5 GenDG
(2013) · Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz · doi:10.1007/s00103-013-1782-6 · Cited by 6
Prenatal genetic diagnosis of Down’s syndrome
Abbott, M., & BENN, P. A. (2002) · Expert Review of Molecular Diagnostics · doi:10.1586/14737159.2.6.605 · Cited by 6
Microarray analysis: F irst‐trimester maternal serum free β‐hCG and the risk of significant copy number variants
Bornstein, E., Gulersen, M., Krantz, D., Cheung, S. W., Maliszewski, K., & Divon, M. Y. (2018) · Prenatal Diagnosis · doi:10.1002/pd.5350 · Cited by 6
“The association between abnormal levels of first‐trimester serum analytes and aneuploidy is well established.(1,3,15-17) For instance, in”
Background
Dépistage de la trisomie 21 : clarté nucale et/ou marqueurs sériques ?
Audibert, F., Dommergues, M., Benattar, C., Taieb, J., Champagne, C., & Frydman, R. (2001) · Gynécologie Obstétrique & Fertilité · doi:10.1016/s1297-9589(01)00192-8 · Cited by 6
The assessment of nuchal translucency and serum markers for down syndrome screening with ductus venosus Doppler measurements in the first trimester
Özer, Ö., Sayin, C. N., & Varol, F. G. (2010) · Journal of the Turkish-German Gynecological Association · doi:10.5152/jtgga.2010.36 · Cited by 6
“Screening for Tri21 by combining maternal age, fetal NT thickness and maternal serum f β-HCG and PAPP-A at 11-13 weeks was associated with a detection rate of about 90% for a false-positive rate of 5% (3, 4).”
Background
Screening for Down Syndrome Using Nuchal Translucency Thickness and Nasal Bone Examination at Advanced Maternal Age in Jakarta: A Preliminary Report
Marsis, I. O. (2004) · Journal of Medical Ultrasound · doi:10.1016/s0929-6441(09)60054-0 · Cited by 6
Hiperplasia suprarrenal congénita: asociación con translucencia nucal fetal aumentada
Anton, B., Serra, B. B., Adiego, B., Martínez-Orgado, J. A., Ancel, A. M., & Picarzo, J. P.-L. (2003) · Anales de Pediatría · doi:10.1016/s1695-4033(03)77991-0 · Cited by 6
Using “Degree of Extremeness” instead of “Multiples of Median” in first trimester risk assessment for Down syndrome—an improved method or just a gimmick in face of political motivations?
Schmidt, P., Hörmansdörfer, C., STABOULIDOU, I., Hillemanns, P., & Scharf, A. (2008) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-007-0542-y · Cited by 6
Jugular lymphatic sacs in first‐trimester fetuses with normal nuchal translucency
de Mooij, Y. M., Bekker, M. N., Spreeuwenberg, M. D., & van Vugt, J. M. G. (2009) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.6308 · Cited by 6
Análise dos resultados maternos e fetais dos procedimentos invasivos genéticos fetais: um estudo exploratório em Hospital Universitário
Kohatsu, M., de Carvalho, M. H. B., Francisco, R. P. V., Filho, A. G. D. A., & Zugaib, M. (2012) · Revista da Associação Médica Brasileira · doi:10.1590/s0104-42302012000600016 · Cited by 6
First Trimester Ultrasound Screening: An Update
Sonek, J., Glover, M., Zhou, M., & Nicolaides, K. H. (2010) · Donald School Journal of Ultrasound in Obstetrics & Gynecology · doi:10.5005/jp-journals-10009-1133 · Cited by 6
The general practitioner and the “new genetics”
Mann, L. M. (2003) · The Medical Journal of Australia · doi:10.5694/j.1326-5377.2003.tb05449.x · Cited by 6
Prenatal Screening for Neural Tube Defects and Aneuploidy
Sutton, A. L. M., & Biggio, J. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00032-x · Cited by 6
The utilisation of nuchal translucency as a prenatal marker of Down syndrome, 1993–1999
Mulvey, S., Atchison, W. G., GRIMWADE, J. C., Renou, P. M., Shekleton, P., & Wallace, E. M. (2000) · Australian and New Zealand Journal of Obstetrics and Gynaecology · doi:10.1111/j.1479-828x.2000.tb01173.x · Cited by 6
Antenatal screening for Down's syndrome
Reynolds, T. (1998) · The Lancet · doi:10.1016/s0140-6736(05)79785-3 · Cited by 6
Maternal Folate Receptor Alpha Autoantibodies and Increased Fetal Nuchal Translucency as Potential Early Markers of Autism Spectrum Disorder
Giorlandino, C., Margiotti, K., Fabiani, M., Mesoraca, A., D’Emidio, L., Raffio, R., Coco, C., Mastrandrea, M. L., Pasquale, C., Cupellaro, M., et al. (2025) · Brain and Behavior · doi:10.1002/brb3.71088 · Cited by 5
“Traditionally, enlarged NT has been strongly associated with chromosomal aneuploi-dies, congenital heart defects, and genetic syndromes (Socolov et al. 2017, Snijders et al. 1998, Baer et al. 2014, Souka et al. 1998).”
Image Classification for Ultrasound Fetal Images with Increased Nuchal Translucency during First Trimester Using SVM Classifier
Sonia, R., & Shanthi, V. (2015) · Research Journal of Applied Sciences Engineering and Technology · doi:10.19026/rjaset.9.1385 · Cited by 5
Evaluating the clinical utility and strategy of whole-exome sequencing testing for fetuses with increased nuchal translucency
Zhou, F., Yang, M., Zhang, Z., Zhu, H., Wang, J., Li, L., Xu, B., Xiang, Q., Hu, T., & Liu, S. (2025) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2025.05.003 · Cited by 5
Repeated Measurement of Crown-Rump Length at 9 and 11-13 Weeks' Gestation: Association with Adverse Pregnancy Outcome
Nakamura, M., Hasegawa, J., Arakaki, T., Takita, H., Hamada, S., Ichizuka, K., & Sekizawa, A. (2015) · Fetal Diagnosis and Therapy · doi:10.1159/000381803 · Cited by 5
Archivée: Utilisation de l’échographie du premier trimestre
(2003) · Journal of Obstetrics and Gynaecology Canada · doi:10.1016/s1701-2163(16)30681-8 · Cited by 5
Elevated nuchal translucency, is it time to discuss the cut off?
Pasquini, L., Ponziani, I., Spataro, E., Masini, G., Biancareddu, E., Cordisco, A., & Petraglia, F. (2023) · International Journal of Gynecology & Obstetrics · doi:10.1002/ijgo.14834 · Cited by 5
Ultraschalldiagnostik, Pränataldiagnostik in der Praxis
Gasiorek‐Wiens, A. (2014) · Springer eBooks · doi:10.1007/978-3-642-45255-0_2 · Cited by 5
Anomalias e prognóstico fetal associados à translucência nucal aumentada e cariótipo anormal
Saldanha, F. A. T., Brizot, M. D. L., Lopes, L. M., Liao, A. W., & Zugaib, M. (2009) · Revista da Associação Médica Brasileira · doi:10.1590/s0104-42302009000100016 · Cited by 5
First trimester ultrasound screening of chromosomal abnormalities
Trninić-Pjević, A., & Novakov-Mikić, A. S. (2007) · Srpski arhiv za celokupno lekarstvo · doi:10.2298/sarh0704153t · Cited by 5
Evolução perinatal e pediátrica de crianças com translucência nucal aumentada e cariótipo normal
Vieira, L. A., Silva, S. V. L., de Faria, R. B., Lippi, U. G., & Lopes, R. G. C. (2013) · Revista Brasileira Ginecologia e Obstetrícia · doi:10.1590/s0100-72032013000600007 · Cited by 5
Correlation of nuchal translucency and thyroxine at 11–13 weeks of gestation
Hantoushzadeh, S., Tara, F., Salmanian, B., Gharedaghi, M. H., Nasri, K., Ganjizadeh, M., Ghaffari, S.-R., Tahmasebpour, A., Farrokhi, B., Abdollahi, A., et al. (2013) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.3109/14767058.2013.784259 · Cited by 5
“Transabdominal ultrasound examination was carried out to evaluate NT thickness, CRL and any major fetal anomalies as previously described [17].”
Method
First-Trimester Ultrasound: A Comparative Review of Guidelines
Boureka, E., Tsakiridis, I., Michos, G., Liberis, A., Giouleka, S., Mamopoulos, A., Kalogiannidis, I., & Dagklis, T. (2026) · Diagnostics · doi:10.3390/diagnostics16111695
“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].”
Influential
Untitled work
Irwin (2001) · doi:10.1002/1096-8628(20010115)98:2

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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