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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
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]
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“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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The lambda sign at 10–14 weeks of gestation as a predictor of chorionicity in twin pregnancies
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Maternal Age and Gestational Age-Specific Risk for Chromosomal Defects
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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
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First‐trimester screening markers are altered in pregnancies conceived after IVF/ICSI
Gjerris, A. C., Loft, A. G., Pinborg, A. B., Christiansen, M., & Tabor, A. (2008) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.6254 · Cited by 83
Womens' preference in Down syndrome screening
de Graaf, I. M., Tijmstra, T., Bleker, O. P., & Lith, J. M. M. V. (2002) · Prenatal Diagnosis · doi:10.1002/pd.358 · Cited by 83
“First-trimester screening tests, ultrasound measurement of the nuchal translucency thickness (Snijders et al., 1998) or maternal serum screening (de Graaf et al.”
Murta, C. G. V., Moron, A. F., de Ávila, M. A. P., & Weiner, C. P. (2002) · Fetal Diagnosis and Therapy · doi:10.1159/000063185 · Cited by 82
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Two-stage ultrasonography in screening for fetal anomalies at 13-14 and 18-22 weeks of gestation
Taipale, P., Ämmälä, M., Salonen, R., & Hiilesmaa, V. K. (2004) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1080/j.0001-6349.2004.00453.x · Cited by 82
First-Trimester Prediction of Macrosomia
Poon, L. C., Karagiannis, G., Stratieva, V., Syngelaki, A., & Nicolaides, K. H. (2010) · Fetal Diagnosis and Therapy · doi:10.1159/000318565 · Cited by 86
Zoppi, M. A., Putzolu, M., Ibba, R. M., Floris, M., & Monni, G. (2002) · Fetal Diagnosis and Therapy · doi:10.1159/000048007 · Cited by 82
Increased nuchal translucency is associated with jugular lymphatic distension
Haak, M. C. (2002) · Human Reproduction · doi:10.1093/humrep/17.4.1086 · Cited by 82
“…of nuchal translucency (NT) in the human fetus at a gestational age of between 10 and 14 weeks is a widely used and sensitive screening method for chromosomal abnormalities (Pandya et al., 1995a,b; Sherer et al., 1997; Economides et al., 1998; Hafner et al., 1998; Snijders et al., 1998).”
MethodSingle umbilical artery at 11–14 weeks' gestation: relation to chromosomal defects
Rembouskos, G., Cicero, S., Longo, D., Sacchini, C., & Nicolaides, K. H. (2003) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.901 · Cited by 80
Prenatal Screening for Down's Syndrome — A Search for the Family's Values
Copel, J. A., & Bahado-Singh, R. O. (1999) · New England Journal of Medicine · doi:10.1056/nejm199908123410709 · Cited by 81
Pilalis, A., Souka, A. P., Antsaklis, P., BASAYIANNIS, K., BENARDIS, P., Haidopoulos, D. A., Papantoniou, N. E., Mesogitis, S. A., & Antsaklis, A. J. (2007) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1080/00016340601155056 · Cited by 80
Roberts, L., Sebire, N. J., Fowler, D. J., & Nicolaides, K. H. (2000) · Placenta · doi:10.1053/plac.2000.0553 · Cited by 80
BORRELL, A., Martínez, J. M., Serés, A., Borobio, V., Cararach, V., & Fortuny, A. (2003) · Prenatal Diagnosis · doi:10.1002/pd.716 · Cited by 80
Metzenbauer, M., Hafner, E., Schuchter, K., & Philipp, K. (2002) · Ultrasound in Obstetrics & Gynecology · doi:10.1046/j.1469-0705.2002.00655.x · Cited by 79
Sepúlveda, W., Cecilia Be, R., Youlton, R., Eduardo Carstens, U., & Reyes, M. (2001) · Prenatal Diagnosis · doi:10.1002/pd.140 · Cited by 79
Maíz, N., STABOULIDOU, I., Leal, A., Minekawa, R., & Nicolaides, K. H. (2009) · Obstetrics and Gynecology · doi:10.1097/aog.0b013e31819c9f66 · Cited by 79
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Schuchter, K., Hafner, E., Stangl, G., Metzenbauer, M., Höfinger, D., & Philipp, K. (2002) · Prenatal Diagnosis · doi:10.1002/pd.288 · Cited by 79
Bianchi, D. W. (2000) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/s0301-2115(00)00432-2 · Cited by 79
“A large body of data from the United Kingdom indicates that there is a 78% detection rate of fetuses with Down's syndrome at a 5% screen positive rate [9].”
BackgroundMaternal ethnic origin and fetal nasal bones at 11–14 weeks of gestation
Prefumo, F., Sairam, S., Bhide, A., Penna, L. K., Hollis, B., & Thilaganathan, B. (2004) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1046/j.1471-0528.2003.00025.x-i1 · Cited by 78
“Z scores were derived from previously published reference values.(5) Logistic regression analysis was performed to investigate the relationship between maternal ethnic origin and the absent or present visualisation of the fetal nasal bones.”
MethodSequential Pathways of Testing After First-Trimester Screening for Trisomy 21
Platt, L. D., Greene, N., Johnson, A., Zachary, J. M., Thom, E. A., Krantz, D., Simpson, J. L., Silver, R. K., Snijders, R. J. M., Goetzl, L. M., et al. (2004) · Obstetrics and Gynecology · doi:10.1097/01.aog.0000139832.79658.b9 · Cited by 79
Introducing the non-invasive prenatal test for trisomy 21 in Belgium: a cost-consequences analysis
Neyt, M., Hulstaert, F., & Gyselaers, W. (2014) · BMJ Open · doi:10.1136/bmjopen-2014-005922 · Cited by 78
Nicolaides, K. H., Heath, V., & Liao, A. W. (2000) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1053/beog.2000.0098 · Cited by 78
The clinical evaluation and pregnancy outcome of euploid fetuses with increased nuchal translucency
Maymon, R., & Herman, A. (2004) · Clinical Genetics · doi:10.1111/j.1399-0004.2004.00332.x · Cited by 77
Fetal heart defects: Potential and pitfalls of first-trimester detection
Khalil, A. A., & Nicolaides, K. H. (2013) · Seminars in Fetal and Neonatal Medicine · doi:10.1016/j.siny.2013.05.004 · Cited by 77
Fetal nuchal translucency screening in 12 495 pregnancies in Sardinia
Zoppi, M. A., Ibba, R. M., Floris, M., & Monni, G. (2001) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.0960-7692.2001.00583.x · Cited by 77
“These results in our homogeneous population in Sar-dinia were very similar to those obtained by the multicenter study of the FMF in a heterogeneous population in Britain 3 .”
BackgroundResultInfluentialKagan, K. O., Wright, D. E., Etchegaray, A., Zhou, Y., & Nicolaides, K. H. (2009) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.6370 · Cited by 77
Detection Rate of Early Fetal Echocardiography and In Utero Development of Congenital Heart Defects
Smrcek, J. M., Berg, C., Geipel, A., Fimmers, R., Axt-Fliedner, R., Diedrich, K., & Gembruch, U. (2006) · Journal of Ultrasound in Medicine · doi:10.7863/jum.2006.25.2.187 · Cited by 77
The Twin–Twin Transfusion Syndrome
Jain, V., & Fisk, N. M. (2004) · Clinical Obstetrics & Gynecology · doi:10.1097/00003081-200403000-00020 · Cited by 76
Down's syndrome, cardiac anomalies, and nuchal translucency
Mol, B. W. (1999) · BMJ · doi:10.1136/bmj.318.7176.70 · Cited by 76
Frontomaxillary facial angle in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks
Borenstein, M., Persico, N., Kagan, K. O., Gazzoni, A., & Nicolaides, K. H. (2008) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.5334 · Cited by 75
Falcon, O., Auer, M., Gerovassili, A., Spencer, K., & Nicolaides, K. H. (2005) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.2699 · Cited by 75
Fetal nasal bone length in chromosomally normal and abnormal fetuses at 11-14 weeks of gestation
Cicero, S., Bindra, R., Rembouskos, G., Tripsanas, C., & Nicolaides, K. H. (2002) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/713605572 · Cited by 74
Vandecruys, H., Faiola, S., Auer, M., Sebire, N. J., & Nicolaides, K. H. (2005) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1897 · Cited by 74
Screening for aneuploidy in the first trimester by assessment of blood flow in the ductus venosus
Mavrides, E., Sairam, S., Hollis, B., & Thilaganathan, B. (2002) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1016/s1470-0328(02)01482-9 · Cited by 74
First trimester ultrasonography in screening and detection of fetal anomalies
Sonek, J. (2007) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30120 · Cited by 76
“NT screening is also highly effective in screening for other types of aneuoploidy such as trisomies 18 and 13, Turner syndrome, and triploidy [Snijders et al., 1998].”
BackgroundMethodInfluentialTwin chorionicity and pre‐eclampsia
Savvidou, M. D., Karanastasi, E., Skentou, C., Geerts, L., & Nicolaides, K. H. (2001) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.0960-7692.2001.00470.x · Cited by 73
CUSUM: a tool for ongoing assessment of performance
Biau, D. J., Porcher, R., & Salomon, L. J. (2008) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.5270 · Cited by 72
Indications for Fetal Echocardiography
Small, M. J., & Copel, J. A. (2004) · Pediatric Cardiology · doi:10.1007/s00246-003-0587-z · Cited by 72
Isolated single umbilical artery and fetal karyotype
Dagklis, T., Defigueiredo, D., STABOULIDOU, I., Casagrandi, D., & Nicolaides, K. H. (2010) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.7717 · Cited by 72
Saltvedt, S., Almström, H., Kublickas, M., Reilly, M., Valentin, L., & Grünewald, C. (2004) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1047 · Cited by 72
Outcome of twin pregnancy with two live fetuses at 11–13 weeks' gestation
Litwińska, E., Syngelaki, A., Cimpoca-Raptis, B. A., Frei, L., & Nicolaides, K. H. (2019) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.21892 · Cited by 74
Gasiorek‐Wiens, A., Tercanli, S., Kozlowski, P., Kossakiewicz, A., Minderer, S., Meyberg, H., Kamin, G., Germer, U., Bielicki, M., Hackelöer, B.-J., et al. (2001) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.0960-7692.2001.00604.x · Cited by 72
Poon, L. C., Chelemen, T., Granvillano, O., Pandeva, I., & Nicolaides, K. H. (2008) · Obstetrics and Gynecology · doi:10.1097/aog.0b013e318188d6f9 · Cited by 71
Barrett, S. L., Bower, C. I., & Hadlow, N. C. (2008) · Prenatal Diagnosis · doi:10.1002/pd.1898 · Cited by 71
Body Mass Index at 11–13 Weeks’ Gestation and Pregnancy Complications
Syngelaki, A., Bredaki, F. E., Vaikousi, E., Maíz, N., & Nicolaides, K. H. (2011) · Fetal Diagnosis and Therapy · doi:10.1159/000328083 · Cited by 71
Ductus venosus blood flow assessment at 11 to 14 weeks of gestation and fetal outcome
Toyama, J., Brizot, M. D. L., Liao, A. W., Lopes, L. M., Nomura, R. M. Y., Saldanha, F. A. T., & Zugaib, M. (2004) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1025 · Cited by 70
ADAM 12 as a second‐trimester maternal serum marker in screening for Down syndrome
Christiansen, M., Spencer, K., Laigaard, J., Cowans, N. J., Larsen, S. O., & Wewer, U. M. (2007) · Prenatal Diagnosis · doi:10.1002/pd.1750 · Cited by 70
Does fetal screening affect women's worries about the health of their baby?
Öhman, S. G., Saltvedt, S., Grünewald, C., & Waldenström, U. (2004) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1111/j.0001-6349.2004.00462.x · Cited by 70
“A risk score was calculated using a software combining the measure of nuchal translucency, gestational age and maternal age (1).”
MethodLarion, S., Warsof, S. L., Romary, L., Mlynarczyk, M., Peleg, D., & Abuhamad, A. (2014) · Obstetrics and Gynecology · doi:10.1097/aog.0000000000000275 · Cited by 69
“Combined first-trimester screen has an 85–90% detection rate for aneuploidy at a false-positive rate of 5%.(1,2) This implies that greater than 90% of invasive procedures yielded normal karyotypes.”
BackgroundScreening for Adverse Pregnancy Outcome by Ductus Venosus Doppler at 11–13+6 Weeks of Gestation
Maíz, N., Valencia, C. M. M., Emmanuel, E. E., STABOULIDOU, I., & Nicolaides, K. H. (2008) · Obstetrics and Gynecology · doi:10.1097/aog.0b013e3181834608 · Cited by 69
Moore), S. F. (., Ide, M., & Wilson, R. F. (2006) · Journal Of Clinical Periodontology · doi:10.1111/j.1600-051x.2005.00884.x · Cited by 68
Nuchal Translucency Measurements for First-Trimester Screening: The ‘Price’ of Inaccuracy
Evans, M. I., Decruyes, H. V., & Nicolaides, K. H. (2007) · Fetal Diagnosis and Therapy · doi:10.1159/000106342 · Cited by 69
“First-trimester aneuploidy screening using nuchal translucency (NT) measurements, then later in conjunction with maternal blood samples for PAPP-A and free s-hCG, has been developed over the past decade. Its efficacy has been demonstrated on several continents in over 1,000,000 patients [ , ,”
BackgroundWagner, P., Sonek, J., Hoopmann, M., Abele, H., & Kagan, K. O. (2016) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.15829 · Cited by 68
Savvidou, M. D., Syngelaki, A., Muhaisen, M., Emelyanenko, E., & Nicolaides, K. H. (2012) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.2011.03253.x · Cited by 74
First-trimester screening for aneuploidy: Research or standard of care?
Malone, F. D., Berkowitz, R. L., Canick, J. A., & D’Alton, M. E. (2000) · American Journal of Obstetrics and Gynecology · doi:10.1067/mob.2000.104802 · Cited by 68
Khalil, A. A., Tsikas, D., Akolekar, R., Jordan, J., & Nicolaides, K. H. (2011) · Journal of Human Hypertension · doi:10.1038/jhh.2011.109 · Cited by 68
Increased nuchal translucency thickness and risk of neurodevelopmental disorders
Hellmuth, S. G., Pedersen, L. H., Miltoft, C. B., Petersen, O. B., Kjærgaard, S., Ekelund, C. K., & Tabor, A. (2016) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.15961 · Cited by 69
Characteristics and outcome of fetal cystic hygroma diagnosed in the first trimester
Graesslin, O., Derniaux, E., Alanio, E., Gaillard, D. A., Vitry, F., Quéreux, C., & Ducarme, G. (2007) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1080/00016340701644843 · Cited by 67
Two‐stage first‐trimester screening for trisomy 21 by ultrasound assessment and biochemical testing
Kagan, K. O., STABOULIDOU, I., Cruz, J. D. J., Wright, D. E., & Nicolaides, K. H. (2010) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.7663 · Cited by 67
Maxillary length at 11–14 weeks of gestation in fetuses with trisomy 21
Cicero, S., Curcio, P., Rembouskos, G., Sonek, J., & Nicolaides, K. H. (2004) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1077 · Cited by 66
Maternal plasma inhibin A at 11–13 weeks of gestation in hypertensive disorders of pregnancy
Akolekar, R., Minekawa, R., Veduță, A., Infante, X. C. R., & Nicolaides, K. H. (2009) · Prenatal Diagnosis · doi:10.1002/pd.2279 · Cited by 65
Viñals, F., Ascenzo, R., Naveas, R., Huggon, I. C., & Giuliano, A. (2008) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.5350 · Cited by 65
Depressive reactions and stress related to prenatal medicine procedures
Kowalcek, I., Mühlhoff, A., Bachmann, S., & Gembruch, U. (2002) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.0960-7692.2001.00551.x · Cited by 65
Frontomaxillary facial angle in fetuses with spina bifida at 11–13 weeks' gestation
Lachmann, R., Picciarelli, G., Moratalla, J., Greene, N., & Nicolaides, K. H. (2010) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.7718 · Cited by 65
Maymon, R. (2002) · Human Reproduction · doi:10.1093/humrep/17.4.1081 · Cited by 65
“This sonographic marker was reported to be associated with fetal chromosomal abnormalities (Pandya et al., 1995; Snijders et al., 1998).”
BackgroundAkolekar, R., Cruz, J. D. J., Foidart, J., Munaut, C., & Nicolaides, K. H. (2010) · Prenatal Diagnosis · doi:10.1002/pd.2433 · Cited by 68
Hendriks, W. K., Colenbrander, B., van der Weijden, G. C., & Stout, T. A. E. (2008) · Animal Reproduction Science · doi:10.1016/j.anireprosci.2008.12.014 · Cited by 64
Semi‐automated system for measurement of nuchal translucency thickness
Moratalla, J., Pintoffl, K., Minekawa, R., Lachmann, R., Wright, D., & Nicolaides, K. H. (2010) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.7737 · Cited by 64
ADAM 12 as a first‐trimester maternal serum marker in screening for Down syndrome
Laigaard, J., Spencer, K., Christiansen, M., Cowans, N. J., Larsen, S. O., Pedersen, B. N., & Wewer, U. M. (2006) · Prenatal Diagnosis · doi:10.1002/pd.1540 · Cited by 64
“Patient specific risks were calculated by a multivariate approach using population parameters established in large-scale retrospective studies and prospective studies (Snijders et al., 1998; Spencer et al., 1999) and the maternal age and gestational related risk of DS at the time of screening (Snijders et al.”
MethodEgloff, M., Herve, B., Quibel, T., Jaillard, S., Bouar, G. L., Uguen, K., Saliou, A. ‐., Valduga, M., Perdriolle-Galet, E., Coutton, C., et al. (2017) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.18928 · Cited by 63
Brizot, M. D. L., de Carvalho, M. H. B., Liao, A. W., dos Reis, N. S. V., Armbruster-Moraes, E., & Zugaib, M. (2001) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.0960-7692.2001.00588.x · Cited by 63
“Increased fetal nuchal translucency (NT) thickness at 10– 14 weeks of gestation is associated with increased risk for chromosomal abnormalities 1,2 .”
BackgroundResultAudibert, F., Dommergues, M., Benattar, C., Taieb, J., Thalabard, J., & Frydman, R. (2001) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2001.00457.x · Cited by 63
EGAN, J. F. X., Kaminsky, L. M., DeRoche, M. E., Barsoom, M. J., Borgida, A., & BENN, P. A. (2002) · American Journal of Obstetrics and Gynecology · doi:10.1067/mob.2002.126980 · Cited by 63
Turan, S., Turan, O. M., Ty-Torredes, K., Harman, C. R., & Baschat, A. (2009) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.6372 · Cited by 62
“Ability to visualize the following 12 anatomic landmarks using gray-scale and color Doppler was noted: (1) four-chamber view; (2) descending aorta; (3) heart size; (4) cardiac axis at 45◦; (5) two equal-sized atria; (6) two equal-sized ventricles; (7) two opening atrioventricular valves; (8) visualization of two great…”
BackgroundKagan, K. O., Sonek, J., Wagner, P., & Hoopmann, M. (2017) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-017-4459-9 · Cited by 62
Sensitivity and accuracy of routine antenatal ultrasound screening for isolated facial clefts
Wayne, C., Cook, K., Sairam, S., Hollis, B., & Thilaganathan, B. (2002) · British Journal of Radiology · doi:10.1259/bjr.75.895.750584 · Cited by 62
Westin, M., Saltvedt, S., Bergman, G., Almström, H., Grünewald, C., & Valentin, L. (2006) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.2792 · Cited by 63
“12: (1) left heart lesions (including hypoplastic left heart syndrome, aortic atresia with or without mitral atresia, aortic valve stenosis and coarctation of the aorta with or without VSD); (2) right heart lesions (including tricuspid atresia, tricuspid valve dysplasia, Ebstein’s anomaly, pulmonary atresia with or wi…”
BackgroundEarly-infantile galactosialidosis: Prenatal presentation and postnatal follow-up
Patel, M. S., Callahan, J. W., Zhang, S., Chan, A. K. J., Unger, S., Levin, A. V., Skomorowski, M., Feigenbaum, A. S. J., O’Brien, K., Hellmann, J., et al. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990702)85:1 · Cited by 45
Cut-off value of nuchal translucency as indication for chromosomal microarray analysis
Maya, I., Yacobson, S., Kahana, S., Yeshaya, J., Tenne, T., Agmon‐Fishman, I., Cohen‐Vig, L., Shohat, M., Basel‐Vanagaite, L., & Sharony, R. (2017) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.17421 · Cited by 65
Automatic Identification of Down Syndrome Using Facial Images with Deep Convolutional Neural Network
Qin, B., Liang, L., Wu, J., Quan, Q., Wang, Z., & Li, D. (2020) · Diagnostics · doi:10.3390/diagnostics10070487 · Cited by 66
Sénat, M., Bussières, L., Couderc, S., Roume, J., Rozenberg, P., Bouyer, J., & Ville, Y. G. (2007) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2006.08.026 · Cited by 61
Prenasal thickness in trisomy‐21 fetuses at 16–24 weeks of gestation
Persico, N., Borenstein, M., Molina, F. S., Azumendi, G., & Nicolaides, K. H. (2008) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.5404 · Cited by 61
McAuliffe, F. M., Fong, K. W., Toi, A., Chitayat, D. A., Keating, S. J., & Johnson, J.-A. M. (2005) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2005.06.075 · Cited by 61
Wøjdemann, K. R., Shalmi, A. C., Christiansen, M., Larsen, S. O., Sundberg, K., Brocks, V., Bang, J., Nørgaard‐Pedersen, B., & Tabor, A. (2005) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1834 · Cited by 61
Caughey, A. B., Kuppermann, M., Norton, M. E., & Washington, A. E. (2002) · American Journal of Obstetrics and Gynecology · doi:10.1067/mob.2002.127144 · Cited by 61
First‐trimester nasal bone length in a normal Latin American population
Casasbuenas, A., Wong, A. E., & Sepúlveda, W. (2008) · Prenatal Diagnosis · doi:10.1002/pd.2173 · Cited by 61
“In spite of its high sensitivity when combined with maternal age (Snijders et al., 1998), NT thickness also increases in association with several other conditions, such as structural, particularly cardiac, defects and genetic disorders (Souka et al., 2005).”
BackgroundMethodInfluentialA Cost-Effectiveness Analysis of Prenatal Screening Strategies for Down Syndrome
Odibo, A. O., Stamilio, D. M., Nelson, D. B., Sehdev, H. M., & Macones, G. A. (2005) · Obstetrics and Gynecology · doi:10.1097/01.aog.0000174581.24338.6f · Cited by 61
Vigan, C. D., Baena, N., Cariati, E., Clementi, M., & Stoll, C. G. (2001) · Annales de Génétique · doi:10.1016/s0003-3995(01)01091-7 · Cited by 61
Integrating antenatal Downʼs syndrome screening
Cuckle, H. (2001) · Current Opinion in Obstetrics & Gynecology · doi:10.1097/00001703-200104000-00013 · Cited by 61
Lam, Y. H., Lee, C. P., Sin, S. Y., Tang, R., Wong, H. S., Wong, S. F., Fong, D., Tang, M. H. Y., & Woo, H. H. (2002) · Prenatal Diagnosis · doi:10.1002/pd.382 · Cited by 61
Pandya, P. P., Wright, D. E., Syngelaki, A., Akolekar, R., & Nicolaides, K. H. (2012) · Fetal Diagnosis and Therapy · doi:10.1159/000335684 · Cited by 62
First‐trimester maternal serum matrix metalloproteinase‐9 (MMP‐9) and adverse pregnancy outcome
Poon, L. C., Nekrasova, E., Anastassopoulos, P., Livanos, P., & Nicolaides, K. H. (2009) · Prenatal Diagnosis · doi:10.1002/pd.2234 · Cited by 60
“…outcomes in women attending for routine assessment of risk for chromosomal abnormalities by measurement of fetal nuchal translucency thickness and maternal serum free ß-human chorionic gonadotropin (ß-hCG) and PAPP-A at 11+0 − 13+6 weeks’ gestation (Snijders et al., 1998; Nicolaides et al., 2005).”
BackgroundMethodProcedure‐related risk of miscarriage following chorionic villus sampling and amniocentesis
Beta, J., Zhang, W., Geris, S., Kostiv, V., & Akolekar, R. (2019) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.20293 · Cited by 60
Intra‐ and interoperator variability in fetal nasal bone assessment at 11–14 weeks of gestation
Sénat, M., Bernard, J. P., Boulvain, M., & Ville, Y. G. (2003) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.184 · Cited by 60
Clur, S. B., Mathijssen, I. B., Pajkrt, E., Cook, A. C., Laurini, R., Ottenkamp, J. J., & Bilardo, C. M. (2008) · Prenatal Diagnosis · doi:10.1002/pd.1985 · Cited by 60
“An increased NT is associated with an increased risk of chromosomal abnormalities (Snijders et al., 1998).”
BackgroundHuggon, I. C., Turan, O. M., & Allan, L. D. (2004) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1720 · Cited by 60
Bakker, M. K., Pajkrt, E., Mathijssen, I. B., & Bilardo, C. M. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2782 · Cited by 59
Fetal spinal anomalies in a first‐trimester sonographic screening program for aneuploidy
Sepúlveda, W., Wong, A. E., & Fauchon, D. (2010) · Prenatal Diagnosis · doi:10.1002/pd.2608 · Cited by 59
“Sonographic measurement of the fetal nuchal translucency thickness at 11 to 13 weeks of gestation in combination with maternal serum screening has been established as the most effective method of screening for trisomy 21 (Snijders et al., 1998; Nicolaides, 2004).”
Method
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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