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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]
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
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Maternal serum screening for Down's syndrome in early pregnancy.
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Increased nuchal translucency at 10—14 weeks of gestation as a marker for major cardiac defects
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Chromosomal defects and outcome in 1015 fetuses with increased nuchal translucency
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Cystic hygroma in the fetus and newborn
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Prospective validation of first-trimester combined screening for trisomy 21
Kagan, K. O., Etchegaray, A., Zhou, Y., Wright, D., & Nicolaides, K. H. (2009) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.6412 · Cited by 132
Poon, L. C., Karagiannis, G., Leal, A., Infante, X. C. R., & Nicolaides, K. H. (2009) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.7439 · Cited by 132
Saltvedt, S., Almström, H., Kublickas, M., Valentin, L., & Grünewald, C. (2006) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.2006.00953.x · Cited by 130
Hypertensive disorders in pregnancy: screening by uterine artery Doppler at 11–13 weeks
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First-Trimester Sonographic Screening for Down Syndrome*1
Malone, F. D. (2003) · Obstetrics and Gynecology · doi:10.1016/j.obstetgynecol.2003.08.004 · Cited by 130
Cervical Length at 23 Weeks in Twins in Predicting Spontaneous Preterm Delivery
Souka, A. P., HEATH, V., FLINT, S., SEVASTOPOULOU, I., & Nicolaides, K. H. (1999) · Obstetrics and Gynecology · doi:10.1016/s0029-7844(99)00277-x · Cited by 129
Cirigliano, V., Voglino, G., Ordóñez, E., Marongiu, A., Cañadas, M. P., Ejarque, M., Rueda, L., Lloveras, E., Fuster, C., & Adinolfí, M. (2009) · Prenatal Diagnosis · doi:10.1002/pd.2192 · Cited by 128
“Over the last years non-invasive screenings for the identification of pregnancies at high risk of chromosomal abnormality have significantly improved (Wald, 1995; Wald and Hackshaw, 2000; Snijders et al., 1998).”
BackgroundMaternal Thyroid Function at 11 to 13 Weeks of Gestation and Subsequent Fetal Death
Ashoor, G., Maíz, N., Rotas, M., Jawdat, F., & Nicolaides, K. H. (2010) · Thyroid · doi:10.1089/thy.2010.0058 · Cited by 128
“…maternal serum free beta human chorionic gonadotropin ( b -hCG) and pregnancy associated plasma protein A (PAPP-A) (DELFIA EXPRESS analyzer; PerkinElmer) as part of screening for chromosomal abnormalities by a combination of fetal nuchal translucency thickness and serum biochemistry (11,12).”
Nasal bone in first-trimester screening for trisomy 21
Cicero, S., Avgidou, K., Rembouskos, G., Kagan, K. O., & Nicolaides, K. H. (2006) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2005.12.057 · Cited by 128
Mean Arterial Pressure at 11 +0 to 13 +6 Weeks in the Prediction of Preeclampsia
Poon, L. C., Kametas, N. A., Pandeva, I., Valencia, C. M. M., & Nicolaides, K. H. (2008) · Hypertension · doi:10.1161/hypertensionaha.107.104646 · Cited by 128
Detection of Fetal Structural Abnormalities with US during Early Pregnancy
Fong, K. W., Toi, A., Salem, S., Hornberger, L. K., Chitayat, D. A., Keating, S. J., McAuliffe, F. M., & Johnson, J.-A. M. (2004) · Radiographics · doi:10.1148/rg.241035027 · Cited by 127
Tul, N., Pušenjak, S., Osredkar, J., Spencer, K., & Novak‐Antolič, Ž. (2003) · Prenatal Diagnosis · doi:10.1002/pd.735 · Cited by 126
“NT is measured according to the Fetal Medicine Foundation (FMF) guidelines (Snijders et al., 1998), the data are analysed by an FMF computer programme for risk calculation and the risk is reported to the woman.”
MethodCaine, A., Maltby, A. E., Parkin, C. A., Waters, J. J., & Crolla, J. A. (2005) · The Lancet · doi:10.1016/s0140-6736(05)66790-6 · Cited by 126
Crossley, J. A., Aitken, D. A., Cameron, A. D., McBride, E., & Connor, J. M. (2002) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.2002.01394.x · Cited by 125
Kagan, K. O., Cicero, S., Staboulidou, I., Wright, D., & Nicolaides, K. H. (2009) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.6318 · Cited by 172
Spencer, K., Cowans, N. J., Molina, F. S., Kagan, K. O., & Nicolaides, K. H. (2007) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.5163 · Cited by 124
Kagan, K. O., Anderson, J. M., Anwandter, G., Neksasova, K., & Nicolaides, K. H. (2008) · Prenatal Diagnosis · doi:10.1002/pd.2149 · Cited by 123
“…for trisomy 21 in singleton pregnancies by a combination of maternal age, fetal NT thickness and maternal serum free β-hCG and PAPP-A in a one-stop-clinic for first trimester assessment of risk (OSCAR) at 11 weeks to 13 weeks and 6 days of gestation (Snijders et al., 1998; Nicolaides et al., 2005).”
MethodFirst-trimester screening for trisomy 21 in singleton pregnancies achieved by assisted reproduction
Liao, A. W. (2001) · Human Reproduction · doi:10.1093/humrep/16.7.1501 · Cited by 123
“…β-HCG, PAPP-A and NT measurements were converted to In the assisted reproduction group, there were six cases withMOM, derived from previous studies (Snijders et al., 1998; Spencer et al., 1999) of unaffected pregnancies and gestational age calculated chromosomal defects (Table III), 401 cases…”
BackgroundMethodInfluentialSong, K., Musci, T. J., & Caughey, A. B. (2013) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.3109/14767058.2013.770464 · Cited by 122
Chaoui, R. (2003) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.187 · Cited by 122
Nicolaides, K. H., Wright, D. E., Poon, L. C., Syngelaki, A., & Gil, M. M. (2013) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.12511 · Cited by 121
AIUM Practice Guideline for the Performance of Obstetric Ultrasound Examinations
(2010) · Journal of Ultrasound in Medicine · doi:10.7863/jum.2010.29.1.157 · Cited by 120
Three- and 4-Dimensional Ultrasound in Obstetric Practice
Gonçalves, L. F., Lee, W., Espinoza, J., & Romero, R. J. (2005) · Journal of Ultrasound in Medicine · doi:10.7863/jum.2005.24.12.1599 · Cited by 119
Schwärzler, P., Carvalho, J. S., Sénat, M., Masroor, T., Campbell, S. C., & Ville, Y. G. (1999) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.1999.tb08109.x · Cited by 119
Association between first trimester absence of fetal nasal bone on ultrasound and Down syndrome
Otaño, L., Aiello, H. A., Igarzábal, L., Matayoshi, T., & Gadow, E. C. (2002) · Prenatal Diagnosis · doi:10.1002/pd.431 · Cited by 119
“In conjunction with maternal age, measurement of nuchal translucency (NT) thickness between 11–14 weeks has shown a detection rate of 77% with a false positive rate of 5% (Snijders et al., 1998).”
Spencer, K., Bindra, R., Nix, A. B. J., Heath, V., & Nicolaides, K. H. (2003) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.186 · Cited by 119
Spencer, K., Cowans, N. J., Avgidou, K., & Nicolaides, K. H. (2006) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.3809 · Cited by 115
Getz, L., & Kirkengen, A. L. (2003) · Social Science & Medicine · doi:10.1016/s0277-9536(02)00200-9 · Cited by 117
Bunduki, V., Ruano, R., Miguelez, J., Yoshizaki, C. T., Kahhale, S., & Zugaib, M. (2003) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.31 · Cited by 116
Poon, L. C. Y., Karagiannis, G., Staboulidou, I., Shafiei, A., & Nicolaides, K. H. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2520 · Cited by 115
“… 2010 John Wiley & Sons, Ltd. Received: 1 December 2009 Revised: 20 February 2010 Accepted: 22 February 2010 Published online: 26 August 2010 age from the measurement of the fetal crown-rump length (CRL), to diagnose any major fetal abnormalities, and to measure fetal NT (Snijders et al., 1998).”
BackgroundSelf-citationAshoor, G., Syngelaki, A., Wang, E., Struble, C. A., Oliphant, A., Song, K., & Nicolaides, K. H. (2012) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.12299 · Cited by 115
Contribution of Fetal Tricuspid Regurgitation in First-Trimester Screening for Major Cardiac Defects
Pereira, S., Ganapathy, R., Syngelaki, A., Maíz, N., & Nicolaides, K. H. (2011) · Obstetrics and Gynecology · doi:10.1097/aog.0b013e31821aa720 · Cited by 116
Spencer, K., Bindra, R., & Nicolaides, K. H. (2003) · Prenatal Diagnosis · doi:10.1002/pd.708 · Cited by 114
“Although it is argued that making correction for maternal weight reduces the population variability of the markers (Wald et al., 1992), in practice, the impact on detection rate and false-positive rate is very small (Wald et al., 1994; Reynolds et al., 1991 ).”
BackgroundMethodResultInfluentialSpencer, K. (2001) · Prenatal Diagnosis · doi:10.1002/pd.134 · Cited by 113
“In the first trimester the use of fetal nuchal translucency thickness (NT) measured by trained sonographers using standardised procedures can achieve detection rates of at least 70–75% (Snijders et al., 1998).”
MethodLooney, P., Stevenson, G. N., Nicolaides, K. H., Plasencia, W., Molloholli, M., Natsis, S., & Collins, S. L. (2018) · JCI Insight · doi:10.1172/jci.insight.120178 · Cited by 112
Leung, T. Y., Vogel, I., Lau, T. K., Chong, W., Hyett, J. A., Petersen, O. B., & Choy, K. W. (2011) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.8988 · Cited by 112
Minnella, G., Crupano, F. M., Syngelaki, A., Zidere, V., Akolekar, R., & Nicolaides, K. H. (2019) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.21956 · Cited by 112
Matallana, C. D. P., Kametas, N. A., Rencoret, G., Strobl, I., & Nicolaides, K. H. (2008) · Obstetrics and Gynecology · doi:10.1097/01.aog.0000298622.22494.0c · Cited by 112
Clinical impact of first and early second trimester fetal echocardiography on high risk pregnancies
Carvalho, J. S., Moscoso, G., Tekay, A., Campbell, S. C., Thilaganathan, B., & Shinebourne, E. A. (2004) · Heart · doi:10.1136/hrt.2003.015065 · Cited by 112
“8 It is well established in a number of centres in the UK 9 and elsewhere.”
BackgroundPapageorghiou, A. T., Yu, C.-S., Erasmus, I., Cuckle, H., & Nicolaides, K. H. (2005) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.2005.00519.x · Cited by 111
“The first, at 11–14 weeks, is for pregnancy dating and assessment of risk for chromosomal abnormalities by measurement of fetal nuchal translucency thickness.(9) The second, at 22–24 weeks, is for measurement of fetal growth and examination for fetal defects.”
BackgroundGraff, C., Wredenberg, A., Silva, J. P., Bui, T., Borg, K., & Larsson, N. (2000) · Prenatal Diagnosis · doi:10.1002/(sici)1097-0223(200005)20:5 · Cited by 20
The 11–13-week scan: diagnosis and outcome of holoprosencephaly, exomphalos and megacystis
Kagan, K. O., Staboulidou, I., Syngelaki, A., Cruz, J., & Nicolaides, K. H. (2010) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.7646 · Cited by 108
First trimester diagnosis of monoamniotic twin pregnancies
Sebire, N. J., Souka, A. P., Skentou, H., Geerts, L., & Nicolaides, K. H. (2000) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2000.00229.x · Cited by 109
Falcón, O., Węgrzyn, P., Faro, C. B. D. A., Peralta, C. F. A., & Nicolaides, K. H. (2005) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1898 · Cited by 109
First- and second-trimester ultrasound assessment of gestational age
Kalish, R. B., Thaler, H. T., Chasen, S. T., Gupta, M., Berman, S., Rosenwaks, Z., & Chervenak, F. A. (2004) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2004.06.053 · Cited by 108
Velamentous Insertion of the Umbilical Cord
Sepúlveda, W. (2006) · Journal of Ultrasound in Medicine · doi:10.7863/jum.2006.25.8.963 · Cited by 107
Increased nuchal translucency in euploid fetuses—what should we be telling the parents?
Bilardo, C. M., Timmerman, E., Pajkrt, E., & van Maarle, M. C. (2010) · Prenatal Diagnosis · doi:10.1002/pd.2396 · Cited by 107
Maternal racial origin and adverse pregnancy outcome: a cohort study
Khalil, A. A., Rezende, J., Akolekar, R., Syngelaki, A., & Nicolaides, K. H. (2012) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.12313 · Cited by 110
Maternal serum placental protein 13 at 11–13 weeks of gestation in preeclampsia
Akolekar, R., Syngelaki, A., Beta, J., Kocyłowski, R., & Nicolaides, K. H. (2009) · Prenatal Diagnosis · doi:10.1002/pd.2375 · Cited by 107
“In addition, the maternal serum PAPP-A and free β-hCG are determined and the results are combined with the foetal NT (nuchal translucency) to calculate the patientspecific risk for trisomy 21 (Snijders et al., 1998; Kagan et al., 2008a).”
MethodPrediction of preterm delivery in twins by cervical assessment at 23 weeks
Skentou, C., Souka, A. P., To, M. S., Liao, A. W., & Nicolaides, K. H. (2001) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2001.00357.x · Cited by 106
Greco, E., Gupta, R., Syngelaki, A., Poon, L. C. Y., & Nicolaides, K. H. (2012) · Fetal Diagnosis and Therapy · doi:10.1159/000335686 · Cited by 126
Falcón, O., Faiola, S., Huggon, I. C., Allan, L. D., & Nicolaides, K. H. (2006) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.2736 · Cited by 105
Poon, L. C., Zaragoza, E., Akolekar, R., Anagnostopoulos, E., & Nicolaides, K. H. (2008) · Prenatal Diagnosis · doi:10.1002/pd.2143 · Cited by 105
“…translucency thickness and maternal serum PAPP-A and Copyright 2008 John Wiley & Sons, Ltd. Received: 9 July 2008 Revised: 22 September 2008 Accepted: 22 September 2008 Published online: 10 November 2008 free ß-hCG at 11+0 –13+6 weeks of gestation (Snijders et al., 1998; Nicolaides et al., 2005).”
Spencer, K., & Nicolaides, K. H. (2002) · Prenatal Diagnosis · doi:10.1002/pd.420 · Cited by 104
“com measured under standardised conditions (Snijders et al., 1998) by sonographers certified by the Fetal Medicine Foundation.”
MethodInfluentialWegrzyn, P., Faro, C., Falcon, O., Peralta, C. F. A., & Nicolaides, K. H. (2005) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1923 · Cited by 103
Prenatal diagnosis for women aged 37 years and over: to have or not to have
Halliday, J. L., Warren, R., McDonald, G., Liamputtong, P., Bell, R. J., & Watson, L. F. (2001) · Prenatal Diagnosis · doi:10.1002/pd.153 · Cited by 102
Prediction of spontaneous preterm delivery from endocervical length at 11 to 13 weeks
Greco, E., Lange, A., Ushakov, F. B., Calvo, J. R., & Nicolaides, K. H. (2010) · Prenatal Diagnosis · doi:10.1002/pd.2640 · Cited by 103
“…sonography to (1) determine gestational age from the measurement of the fetal crown-rump length, (2) diagnose any major fetal abnormalities and (3) measure fetal nuchal translucency thickness as part of screening for chromosomal abnormalities (Robinson and Fleming, 1975; Snijders et al., 1998).”
MethodElevated first-trimester nuchal translucency increases the risk of congenital heart defects
Bahado-Singh, R. O., Wapner, R. J., Thom, E. A., Zachary, J. M., Platt, L. D., Mahoney, M. J., Johnson, A., Silver, R. K., Pergament, E., Filkins, K. A., et al. (2005) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2004.12.086 · Cited by 101
Taipale, P., Ämmälä, M., Salonen, R., & Hiilesmaa, V. K. (2003) · Obstetrics and Gynecology · doi:10.1016/s0029-7844(02)02590-5 · Cited by 101
Pathophysiology of increased nuchal translucency: a review of the literature
Haak, M. C. (2003) · Human Reproduction Update · doi:10.1093/humupd/dmg008 · Cited by 101
“Published by Springer] Pathophysiology of increased nuchal translucency in the majority of cases (Pandya et al., 1994; Snijders et al., 1998), the extracellular matrix showed a characteristic composition for each trisomy (von Kaisenberg et al., 1998b) (Figure 5) (Brand-Saberi et al., 1994b).”
BackgroundInfluentialTeaching Bayesian reasoning: an evaluation of a classroom tutorial for medical students
Kurzenhäuser, S., & Hoffrage, U. (2002) · Medical Teacher · doi:10.1080/0142159021000012540 · Cited by 100
Contribution of Ductus Venosus Doppler in First-Trimester Screening for Major Cardiac Defects
Chelemen, T., Syngelaki, A., Maíz, N., Allan, L. D., & Nicolaides, K. H. (2010) · Fetal Diagnosis and Therapy · doi:10.1159/000322138 · Cited by 100
Predictive Value of Hormone Measurements in Maternal and Fetal Complications of Pregnancy
dos Reis, F. M., D’Antona, D., & Petraglia, F. (2002) · Endocrine Reviews · doi:10.1210/edrv.23.2.0459 · Cited by 101
“To date, there have been several publications describing an association of an increased nuchal translucency thickness with fetal aneuploidy (97, 98) and, in particular, with Down’s syndrome (99), with a mean detection rate of 72% (100, 101).”
The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: time for reconsideration
Nicolini, U., Lalatta, F., Natacci, F., Curcio, C., & Bui, T. (2004) · Human Reproduction Update · doi:10.1093/humupd/dmh046 · Cited by 100
“not address specifically this issue, the UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal translucency showed that ,12% of all chromosomal aneuploidies would be missed using QF-PCR as a diagnostic test (Snijders et al., 1998).”
BackgroundChanges in the Utilization of Prenatal Diagnosis
BENN, P. A., EGAN, J. F. X., Fang, M., & Smith‐Bindman, R. (2004) · Obstetrics and Gynecology · doi:10.1097/01.aog.0000127008.14792.14 · Cited by 99
“1991 1,314 (66) 455 (23) 72 (4) 44 (2) 18 (1) 85 (4) 1,988 1992 1,227 (64) 471 (24) 70 (4) 39 (2) 24 (1) 92 (5) 1,923 1993 1,248 (65) 463 (24) 91 (5) 36 (2) 29 (2) 50 (3) 1,917 1994 1,158 (65) 404 (23) 106 (6) 43 (2) 24 (1) 53 (3) 1,788 1995 1,149 (66) 368 (21) 82 (5) 40 (2) 20 (1) 75 (4) 1,734 1996 1,084 (66) 368 (22…”
Biochemical screening for Down syndrome
Cuckle, H. (2000) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/s0301-2115(00)00431-0 · Cited by 99
“Among almost 100 000 completed singleton pregnancies screened in the Fetal Medicine Foundation study, the recall rate was 8% and the observed detection rate was 82% [14].”
BackgroundAkolekar, R., Bower, S. J., Flack, N. J., Bilardo, C. M., & Nicolaides, K. H. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2644 · Cited by 95
“…and perform an ultrasound scan to firstly determine gestational age from the fetal crown–rump length, and secondly, diagnose any major fetal abnormalities and thirdly, measure fetal NT thickness as part of screening for chromosomal abnormalities (Robinson and Fleming 1975; Snijders et al., 1998).”
BackgroundRozenberg, P., Bussières, L., Chevret, S., Bernard, J. P., Malagrida, L., Cuckle, H., Chabry, C., Durand‐Zaleski, I., Bidat, L., Lacroix, I., et al. (2006) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2006.02.046 · Cited by 97
Detection of chromosomal abnormalities, congenital abnormalities and transfusion syndrome in twins
Sperling, L., Kiil, C., Larsen, L. U., Brocks, V., Wøjdemann, K. R., Qvist, I., Schwartz, M., Jørgensen, C., Espersen, G. T., Skajaa, K., et al. (2007) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.3918 · Cited by 95
Gilbert, R. E., Wallace, E. M., Augood, C. A., Gupta, R., Ades, A. E., Logan, S., Sculpher, M. J., van der Meulen, J., & Mulvey, S. (2001) · BMJ · doi:10.1136/bmj.323.7310.423 · Cited by 95
Early fetal megacystis between 11 and 15 weeks of gestation
Favre, R., Köhler, M., Gasser, B., MULLER, F. M., & Nisand, I. (1999) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.1999.14060402.x · Cited by 94
Pregnancy outcome in fetuses with increased nuchal translucency and normal karyotype
Sénat, M., Keersmaecker, B. D., Audibert, F., Montcharmont, G., Frydman, R., & Ville, Y. G. (2002) · Prenatal Diagnosis · doi:10.1002/pd.321 · Cited by 94
“Many studies have found an association between increased NT at 11–14 weeks of gestation and fetal aneuploidy (Pajkrt, 1995; Pajkrt et al., 1998; Snijders et al., 1998).”
BackgroundFirst-trimester maternal plasma cell-free fetal DNA and preeclampsia
Sifakis, S., Zaravinos, A., Maíz, N., Spandidos, D. A., & Nicolaides, K. H. (2009) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2009.05.025 · Cited by 93
Serum PAPP-A levels at 10–14 weeks of gestation are altered in women after assisted conception
Tul, N., & Novak‐Antolič, Ž. (2006) · Prenatal Diagnosis · doi:10.1002/pd.1589 · Cited by 93
“In all cases, the NT scan was done by physicians having the Certificate in Competence issued by the Fetal Medicine Foundation (FMF) (Snijders et al., 1998).”
MethodInfluentialRoutine first-trimester ultrasound screening using a standardized anatomical protocol
Liao, Y., Wen, H., Ouyang, S., Yuan, Y., Bi, J., Guan, Y., Fu, Q., Yang, X., Guo, W., Huang, Y., et al. (2021) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2020.10.037 · Cited by 92
Cystic Hygromas, Nuchal Edema, and Nuchal Translucency at 11–14 Weeks of Gestation
Molina, F. S., Avgidou, K., Kagan, K. O., Poggi, S., & Nicolaides, K. H. (2006) · Obstetrics and Gynecology · doi:10.1097/01.aog.0000201979.23031.32 · Cited by 92
Fetal nuchal translucency and normal chromosomes: a long‐term follow‐up study
Hiippala, A., Eronen, M., Taipale, P., Salonen, R., & Hiilesmaa, V. (2001) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2001.00481.x · Cited by 91
Fetal heart rate in chromosomally abnormal fetuses
Liao, A. W., Snijders, R. J. M., Geerts, L., Spencer, K., & Nicolaides, K. H. (2000) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2000.00292.x · Cited by 91
Westin, M., Saltvedt, S., Bergman, G., Kublickas, M., Almström, H., Grünewald, C., & Valentin, L. (2006) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.2006.00951.x · Cited by 91
Alldred, S. K., Takwoingi, Y., Guo, B., Pennant, M. E., Deeks, J. J., Neilson, J. P., & Alfirević, Ž. (2017) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd012600 · Cited by 91
Orlandi, F., Rossi, C., Allegra, A., Krantz, D., Hallahan, T., Orlandi, E., & Macri, J. N. (2002) · Prenatal Diagnosis · doi:10.1002/pd.390 · Cited by 90
“First trimester Down syndrome screening, which combines the ultrasound measurement of nuchal translucency (NT) (Snijders et al., 1998) with the biochemical measurement of free beta-human chorionic gonadotrophin (b-hCG) and pregnancy-associated plasma protein A (PAPP-A), can identify a subgroup of…”
Bardi, F., Bosschieter, P. F. N., Verheij, J., Go, A. T. J. I., Haak, M. C., Bekker, M. N., Sikkel, E., Coumans, A. B. C., Pajkrt, E., & Bilardo, C. M. (2019) · Prenatal Diagnosis · doi:10.1002/pd.5590 · Cited by 89
“5mm, corresponding to the 99 centile.(40) Our results support that this cut‐off has the highest sensitivity and specificity to detect congenital abnormalities.”
BackgroundTrisomy 10: ultrasound features and natural history after first trimester diagnosis
Brizot, M. D. L., Schultz, R., Patroni, L., Lopes, L. M., Armbruster-Moraes, E., & Zugaib, M. (2001) · Prenatal Diagnosis · doi:10.1002/pd.129 · Cited by 88
“Screening for chromosomal abnormalities by measuring the nuchal translucency between 11 and 14 weeks is a widely used procedure and has been shown to have a sensitivity for trisomy 21 of about 80% (Snijders et al., 1998).”
InfluentialKagan, K. O., Frisová, V., Nicolaides, K. H., & Spencer, K. (2007) · Prenatal Diagnosis · doi:10.1002/pd.1793 · Cited by 88
Khaw, A., Kametas, N. A., Turan, O., Bamfo, J. E. A. K., & Nicolaides, K. H. (2008) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.2007.01577.x · Cited by 88
Spencer, K., Bindra, R., Cacho, A. M., & Nicolaides, K. H. (2004) · Prenatal Diagnosis · doi:10.1002/pd.819 · Cited by 87
“Delta NT was similarly derived from the measured nuchal translucency thickness and crown-rump length for the unaffected pregnancies from a previously established relationship (Snijders et al., 1998).”
MethodMaternal Serum Visfatin at 11–13 Weeks of Gestation in Gestational Diabetes Mellitus
Ferreira, A. F. A., Rezende, J. C., Vaikousi, E., Akolekar, R., & Nicolaides, K. H. (2011) · Clinical Chemistry · doi:10.1373/clinchem.2010.159806 · Cited by 91
Poon, L. C., Kametas, N. A., Valencia, C. M. M., Chelemen, T., & Nicolaides, K. H. (2010) · Hypertension in Pregnancy · doi:10.3109/10641955.2010.484086 · Cited by 87
“The advantages of this study are the prospective examination of a large population of pregnant women attending for routine care in a well-defined gestational age; the use of a validated automated device and appropriately trained doctors to measure BP; the application of strict criteria to define the diagnosis of early…”
Placental Volume at 11–13 Weeks’ Gestation in the Prediction of Birth Weight Percentile
Plasencia, W., Akolekar, R., Dagklis, T., Veduta, A., & Nicolaides, K. H. (2011) · Fetal Diagnosis and Therapy · doi:10.1159/000324318 · Cited by 86
Self-citationThe twin–twin transfusion syndrome
Wee, L., & Fisk, N. M. (2002) · Seminars in Neonatology · doi:10.1053/siny.2002.0106 · Cited by 86
First‐trimester diagnosis of cleft lip and palate using three‐dimensional ultrasound
Martínez-Ten, P., Adiego, B., Illescas, T., Bermejo, C., Wong, A. E., & Sepúlveda, W. (2011) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.10139 · Cited by 86
First‐Trimester Sonographic Diagnosis of Holoprosencephaly
Sepúlveda, W., Víctor Dezerega, P., & Cecilia Be, R. (2004) · Journal of Ultrasound in Medicine · doi:10.7863/jum.2004.23.6.761 · Cited by 86
Salomon, L. J., Winer, N., Bernard, J. P., & Ville, Y. (2008) · Prenatal Diagnosis · doi:10.1002/pd.2016 · Cited by 85
Screening for fetal aneuploidy
Rink, B. D., & Norton, M. E. (2015) · Seminars in Perinatology · doi:10.1053/j.semperi.2015.11.006 · Cited by 88
Prenatal diagnosis and obstetric outcomes in triplet pregnancies in relation to chorionicity
Geipel, A., Berg, C., Katalinic, A., Plath, H., Hansmann, M., Germer, U., & Gembruch, U. (2005) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.2005.00627.x · Cited by 85
Frontomaxillary facial angle in fetuses with trisomy 21 at 11-136 weeks
Sonek, J., Borenstein, M., Dagklis, T., Persico, N., & Nicolaides, K. H. (2007) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2006.10.891 · Cited by 84
Chaveeva, P., Poon, L. C., Sotiriadis, A., Kosinski, P., & Nicolaides, K. H. (2014) · Fetal Diagnosis and Therapy · doi:10.1159/000358593 · Cited by 84
First‐trimester sonographic findings in trisomy 18: a review of 53 cases
Sepúlveda, W., Wong, A. E., & Víctor Dezerega, P. (2010) · Prenatal Diagnosis · doi:10.1002/pd.2462 · Cited by 84
Maternal plasma soluble endoglin at 11–13 weeks' gestation in pre‐eclampsia
Foidart, J., Munaut, C., Chantraine, F., Akolekar, R., & Nicolaides, K. H. (2010) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.7621 · Cited by 87
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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