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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]
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Chromosomal defects and outcome in 1015 fetuses with increased nuchal translucency
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Maymon, R., Tercanli, S., Dreazen, E., Sartorius, G. A., Holzgreve, W., & Herman, A. (2004) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1060 · Cited by 21
Prenatal ultrasound parameters in single-suture craniosynostosis
Cornelissen, M. J., Apon, I., van der Meulen, J. J. N. M., Groenenberg, I. A. L., Kraan – van der Est, M. N., Mathijssen, I. M. J., Bonsel, G. J., & Cohen – Overbeek, T. E. (2018) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/14767058.2017.1335706 · Cited by 20
“If truly independent as marker, it could improve discriminatory power if it is added to CI information, like the 1st trimester combination test where the combination of several parameters increase the discriminative power of the test [25].”
BackgroundMastromoro, G., Guadagnolo, D., Hashemian, N. K., Bernardini, L., Giancotti, A., Piacentini, G., Luca, A. D., & Pizzuti, A. (2022) · Diagnostics · doi:10.3390/diagnostics13010048 · Cited by 20
“4% of euploid fetuses [10], and NT ≥ 3.”
BackgroundFetal cardiac scanning performed immediately following an abnormal nuchal translucency examination
Weiner, Z., Weizman, B., Beloosesky, R., Goldstein, I., & Bombard, A. T. (2008) · Prenatal Diagnosis · doi:10.1002/pd.2071 · Cited by 20
“Fetal NT measurements between 10.3 and 13.6 weeks’ gestation have been established as one of the best screening tests for Trisomy 21 (Snijders et al., 1998; Malone et al., 2005).”
BackgroundInfluentialUltrasound and differential diagnosis of fetal abdominal cysts
Tu, C.-Y. (2016) · Experimental and Therapeutic Medicine · doi:10.3892/etm.2016.3948 · Cited by 20
First-Trimester Assessment of the Nasal Bones Using the Retronasal Triangle View
Martínez-Ten, P., Adiego, B., Pérez-Pedregosa, J., Illescas, T., Wong, A. E., & Sepúlveda, W. (2010) · Journal of Ultrasound in Medicine · doi:10.7863/jum.2010.29.11.1555 · Cited by 20
Maternal serum visfatin at 11–13 weeks’ gestation in preeclampsia
Ferreira, A. F. A., Rezende, J. C., de Oliveira, R., Akolekar, R., & Nicolaides, K. H. (2012) · Journal of Human Hypertension · doi:10.1038/jhh.2012.10 · Cited by 20
Difference in nuchal translucency between monozygotic and dizygotic spontaneously conceived twins
Cheng, P., Huang, S., Shaw, S., Hsiao, C., Kao, C., Chueh, H., & Hsieh, T. (2010) · Prenatal Diagnosis · doi:10.1002/pd.2450 · Cited by 20
“The inter-twin NT difference for dizygotic twins in this study is consistent with the finding of a previous report that did not find a significant correlation between fetal NT values measured in consecutive singleton pregnancies in the same woman (Spencer, 2001).”
ResultFirst- and Second-trimester Down Syndrome Screening: Current Strategies and Clinical Guidelines
Shaw, S., Hsu, J.-J., Lee, C., Hsiao, C., Chen, C., Hsieh, T., & Cheng, P. (2008) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/s1028-4559(08)60073-x · Cited by 20
Comparison of modes of ascertainment for mosaic vs complete trisomy 21
Bornstein, E., Lenchner, E., Donnenfeld, A. E., Kapp, S., Keeler, S., & Divon, M. Y. (2009) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2009.01.017 · Cited by 20
Ultrasonic marker pattern recognition and measurement using artificial neural network
Supriyanto, E., Lai, K. W., & Min, T. Y. (2010) · International Conference on Signal Processing · Cited by 20
Spencer, K. (2002) · Prenatal Diagnosis · doi:10.1002/pd.430 · Cited by 20
Optimising the timing for nuchal translucency measurement
Mulvey, S., Baker, L., Edwards, A., Oldham, J., Shekleton, P., & Wallace, E. M. (2002) · Prenatal Diagnosis · doi:10.1002/pd.406 · Cited by 20
First-trimester screening for aneuploidy
Brigatti, K. W., & Malone, F. D. (2004) · Obstetrics and Gynecology Clinics of North America · doi:10.1016/s0889-8545(03)00119-0 · Cited by 20
“Table 1 includes 30 published studies on the performance of NT-based screening for Down syndrome in the general population between 1966 and April 2003 [7–36].”
BackgroundInfluentialThe role of three-dimensional ultrasound in obstetrics
Michailidis, G. D., Economides, D. L., & Schild, R. L. (2001) · Current Opinion in Obstetrics & Gynecology · doi:10.1097/00001703-200104000-00016 · Cited by 20
Raio, L., Ghezzi, F., Cromi, A., Cereda, E., & Passi, A. G. (2004) · Early Human Development · doi:10.1016/j.earlhumdev.2003.11.007 · Cited by 20
Maternal serum ADAM12s in the late first trimester of pregnancies with Trisomy 21
Spencer, K., Cowans, N. J., & Stamatopoulou, A. (2008) · Prenatal Diagnosis · doi:10.1002/pd.1994 · Cited by 20
“…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 Trisomy 21 at the time of screening (Snijders et…”
BackgroundMethodPrenatal Diagnosis in the First Trimester of Pregnancy
Ndumbe, F. M., Navti, O. B., Chilaka, V. N., & Konje, J. C. (2008) · Obstetrical & Gynecological Survey · doi:10.1097/ogx.0b013e31816ff1cd · Cited by 20
Chervenak, F. A., McCullough, L. B., & Chasen, S. T. (2005) · Seminars in Perinatology · doi:10.1053/j.semperi.2005.05.012 · Cited by 20
Is Routine Amniocentesis for Advanced Maternal Age Still Indicated?
Dommergues, M., Audibert, F., Benattar, C., Champagne, C., Gomel, V., & Frydman, R. (2001) · Fetal Diagnosis and Therapy · doi:10.1159/000053943 · Cited by 20
Thilaganathan, B., Olawaiye, A. B., Sairam, S., & Harrington, K. (1999) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.1999.tb08184.x · Cited by 20
Antenatal screening for Down's syndrome
Cuckle, H. (1998) · The Lancet · doi:10.1016/s0140-6736(98)00030-0 · Cited by 20
Karim, J. N., Mascio, D. D., Roberts, N. W., Papageorghiou, A. T., & study, F. T. A. (2024) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.27649 · Cited by 22
“In addition, fetal nuchal translucency (NT) can be measured as part of a combined screening test, along with maternal age, serum free beta human chorionic gonadotropin and pregnancy-associated plasma protein-A, to determine fetal risks for trisomies 21, 18 and 13 1–4 .”
BackgroundCrown–rump length measurement error: impact on assessment of growth
Gadsbøll, K., Wright, A., Kristensen, S. E., Verfaille, V., Nicolaides, K. H., Wright, D., & Petersen, O. B. (2021) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.23690 · Cited by 19
Ji, X., Li, Q., Qi, Y., Wang, X., Ding, H., Lü, J., Zhang, Y., & Yin, A. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1227724 · Cited by 19
Engels, M. A. J., Heijboer, A. C., Blankenstein, M. A., & van Vugt, J. M. G. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2873 · Cited by 19
Engels, M. A. J., Bhola, S. L., Twisk, J. W. R., Blankenstein, M. A., & van Vugt, J. M. G. (2013) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2013.12.009 · Cited by 19
“NT was performed according to the guidelines of the Fetal Medicine Foundation (FMF) with a fetal crown rump length (CRL) between 45 and 84 mm (FMF reference curve) [11] from 2001 through 2003, and with a CRL between 45 and 79 mm (VUmc reference curve) [12] from 2004 onwards.”
MethodWilson, R. D., Davies, G. A. L., Gagnon, A., Désilets, V. A., Reid, G. J., Summers, A. M., WYATT, P. R., Allen, V. M., & Langlois, S. F. (2005) · Journal of Obstetrics and Gynaecology Canada · doi:10.1016/s1701-2163(16)30506-0 · Cited by 19
Are First Trimester Nuchal Septations Independent Risk Factors for Chromosomal Anomalies?
Mack, L. M., Lee, W., Mastrobattista, J. M., Belfort, M. A., den Veyver, I. B. V., Shamshirsaz, A. A., Ruano, R., Cortés, M. S., Espinoza, A. F., Diouf, A. T., et al. (2016) · Journal of Ultrasound in Medicine · doi:10.7863/ultra.16.01066 · Cited by 19
The first trimester combined test for aneuploidies – a single center experience
Veduță, A., Vayna, A. M., Duţă, S., Panaitescu, A. M., Popescu, F. D., Bari, M. B., Peltecu, G. C., & Nedelea, F. M. (2017) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/14767058.2017.1336220 · Cited by 19
Ferrier, C., Dhombres, F., Khoshnood, B., Randrianaivo, H., Perthus, I., Guilbaut, L., Durand‐Zaleski, I., & Jouannic, J. (2019) · BMJ Open · doi:10.1136/bmjopen-2018-025482 · Cited by 19
Miron, P., Côté, Y. P., & Lambert, J. (2008) · Prenatal Diagnosis · doi:10.1002/pd.1930 · Cited by 19
“com/nuchal) (Snijders et al., 1998).”
Increased nuchal translucency, normal karyotype and infant development
Miltoft, C. B., Ekelund, C. K., Hansen, B. M., Lando, A., Petersen, O. B., Skovbo, P., Jørgensen, F. S., Sperling, L., Zingenberg, H., Nikkilä, A., et al. (2011) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.10060 · Cited by 19
Temporal Relationship Between Increased Nuchal Translucency and Enlarged Jugular Lymphatic Sac
Bekker, M. N., Twisk, J. W. R., Bartelings, M. M., Groot, A. C. G., & van Vugt, J. M. G. (2006) · Obstetrics and Gynecology · doi:10.1097/01.aog.0000238340.64966.81 · Cited by 19
The effect of cigarette or sheesha smoking on first‐trimester markers of Down syndrome
Ardawi, M., Nasrat, H. A. N., Rouzi, A., قاري, م., Al-Qahtani, M., & Abuzenadah, A. (2007) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.2007.01448.x · Cited by 19
Sharma, G., McCullough, L. B., & Chervenak, F. A. (2007) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30118 · Cited by 19
Geipel, A., Berg, C., Katalinic, A., Plath, H., Hansmann, M., Smrcek, J. M., Gembruch, U., & Germer, U. (2004) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1783 · Cited by 19
Schiøtt, K. M., Christiansen, M., Petersen, O. B., Sørensen, T. L., & Uldbjerg, N. (2006) · Prenatal Diagnosis · doi:10.1002/pd.1487 · Cited by 19
“It provides detection rates of 85–90% for screen-positive rates of about 5% (Orlandi et al., 1997; Snijders et al., 1998; Biasio et al., 1999; Spencer et al., 2001; Schuchter et al., 2002; Kaisenberg et al., 2002, Spencer, 2002; Spencer et al., 2003, Wapner et al., 2003, Stenhouse et al., 2004,…”
Spencer, K., Cowans, N. J., & Stamatopoulou, A. (2007) · Prenatal Diagnosis · doi:10.1002/pd.1885 · Cited by 19
“ADAM12s (a disintegrin and metalloprotease) (Gilpin et al., 1998) has been shown to have proteolytic activity against insulin-like growth factor binding proteins 3 and 5 (Loechel et al., 2000; Shi et al., 2000 ) and is thought to be part of a mechanism controlling foetal growth during pregnancy (Cowans and Spencer, 20…”
BackgroundMethodFaieta, M., Falcone, R., Duca, S., Corsetti, E., Giannico, R., Gigante, L., Diano, L., Calugi, G., Spinella, F., & Pizzuti, F. (2024) · Prenatal Diagnosis · doi:10.1002/pd.6580 · Cited by 18
“…possible overestimation of test performance, we considered the ultrasound confirmation reliable only when highly suggestive of common trisomy or X0, 22–25 while miscarriage was the inclusion criterion for RAAs positive cases, with the anomaly detected as the most reasonable cause of the pregnancy…”
BackgroundGadsbøll, K., Brix, N., Sandager, P., Petersen, O. B., Souka, A. P., Nicolaides, K. H., & Vogel, I. (2025) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.29198 · Cited by 18
“Increased NT thickness is associated strongly with chromosomal aneuploidies 1–4 .”
Morgan, S., Delbarre, A., & Ward, P. (2013) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.12384 · Cited by 18
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Early genetic sonogram for down syndrome detection
Bahado-Singh, R. O., Mendilcioğlu, İ., Rowther, M., Choi, S., Öz, U., Yousefi, N. F., & Mahoney, M. J. (2002) · American Journal of Obstetrics and Gynecology · doi:10.1067/mob.2002.126975 · Cited by 18
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“In this visit, which was held at 11+0–13+6 weeks’ gestation, we recorded maternal characteristics and medical history and performed a combined screening for aneuploidies by measuring the fetal crown–rump length (CRL), nuchal translucency (NT) thickness and maternal serum PAPP-A and free β-hCG [19,20].”
MethodPregnancy Loss Following Amniocentesis or CVS Sampling—Time for a Reassessment of Risk
Ogilvie, C. M., & Akolekar, R. (2014) · Journal of Clinical Medicine · doi:10.3390/jcm3030741 · Cited by 18
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First-Trimester Assessment of the Fetal Palate
Sepúlveda, W., Cafici, D., Bartholomew, J., Wong, A. E., & Martínez-Ten, P. (2012) · Journal of Ultrasound in Medicine · doi:10.7863/jum.2012.31.9.1443 · Cited by 18
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A Semi-automated Method for the Measurement of the Fetal Nuchal Translucency in Ultrasound Images
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Fetal Aneuploidy and Umbilical Cord Thickness Measured Between 14 and 23 Weeks' Gestational Age
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First trimester Down Syndrome screening by nuchal translucency in a Thai population
Panburana, P., Ajjimakorn, S., & Tungkajiwangoon, P. (2001) · International Journal of Gynecology & Obstetrics · doi:10.1016/s0020-7292(01)00482-9 · Cited by 18
First‐Trimester Nuchal Translucency Screening
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On‐to‐on versus on‐to‐out nuchal translucency measurements
Herman, A., Dreazen, E., Samandarov, A., Bukovsky, Y., Weinraub, Z., & Maymon, R. (2000) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2000.00035.x · Cited by 18
Antenatal screening for Down's syndrome
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Management of fetal thyroid goitres: a report of 11 cases in a single perinatal unit
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“Thus, inadequate free IGF levels, which affect the development of the embryo, may lead to other complications of pregnancy, such as stillbirth, risk of small for gestational age (SGA) neonates, preeclampsia, and premature delivery [14,15].”
BackgroundBet, B., Lugthart, M. A., Linskens, I. H., van Maarle, M. C., van Leeuwen, E., & Pajkrt, E. (2024) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.27623 · Cited by 17
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Prenatal Screening of Single-Gene Disorders from Maternal Blood
Sekizawa, A., & Saito, H. (2001) · American Journal of PharmacoGenomics · doi:10.2165/00129785-200101020-00004 · Cited by 16
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Nuchal translucency in dichorionic twins conceived after assisted reproduction
Hui, P. W., Tang, M. H. Y., Ng, E. H. Y., Yeung, W. S. B., & Ho, P. C. (2006) · Prenatal Diagnosis · doi:10.1002/pd.1445 · Cited by 17
Gyselaers, W., Vereecken, A. J., Herck, E. J. H. V., Straetmans, D. P. L., Martens, G., Jonge, E. T. M. D., Ombelet, W. U. A. M., & Nijhuis, J. G. (2004) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2003.12.014 · Cited by 17
“A total of 2700 measurements were mailed to the Fetal Medicine Foundation for audit according to the FMF-reference range [5].”
MethodStuurman, K. E., van der Mespel-Brouwer, M. H., Engels, M. A. J., Elting, M. W., Bhola, S. L., & Meijers-Heijboer, H. E. J. (2021) · Frontiers in Medicine · doi:10.3389/fmed.2021.737936 · Cited by 20
Is nuchal translucency a useful aneuploidy marker in fetuses with crown–rump length of 28–44 mm?
Grande, M., Solernou, R., Ferrer, L., Borobio, V., Jiménez, J. M. M., Bennasar, M., Soler, A., & BORRELL, A. (2013) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.13203 · Cited by 17
Complete trisomy 21 vs translocation Down syndrome: a comparison of modes of ascertainment
Bornstein, E., Lenchner, E., Donnenfeld, A. E., Jodicke, C., Keeler, S., Kapp, S., & Divon, M. Y. (2010) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2010.06.019 · Cited by 17
Fincham, J., Pandya, P. P., Yuksel, B., Loong, Y. M., & Shah, J. (2002) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2002.00803.x · Cited by 17
“Increased NT at 11–14 weeks of gestation is a common phenotypic marker of trisomy 21 and other fetal chromosomal defects 4,11 .”
BackgroundMatias, A., Maíz, N., Montenegro, N. A. M. D. M., & Nicolaides, K. H. (2011) · Journal of Perinatal Medicine · doi:10.1515/jpm.2011.047 · Cited by 17
What's new in prenatal screening and diagnosis?
Bubb, J. A., & Matthews, A. L. (2004) · Primary Care Clinics in Office Practice · doi:10.1016/j.pop.2004.04.011 · Cited by 17
“This has been addressed by the Fetal Medicine Foundation in London, which has developed standardized methods for obtaining NT measurements and offers training and certification for ultrasonographers [59,65].”
BackgroundMethodPrenatal Screening and the Reduction of Birth Defects in Populations
Baird, P. A. (1999) · Public Health Genomics · doi:10.1159/000016177 · Cited by 17
Schmidt, P., STABOULIDOU, I., Elsässer, M., Vaske, B., Hillemanns, P., & Scharf, A. (2008) · Fetal Diagnosis and Therapy · doi:10.1159/000158520 · Cited by 17
“The difference in the acquired NT value to the CRL-dependent mean value is called ?NT. According to the values of ?NT, fs-hCG and PAPP-A, three likelihood ratios can be determined [ , ,”
BackgroundKim, M. H., Park, S.-H., Cho, H.-J., Choi, J.-S., Kim, J.-O., Ahn, H.-K., Shin, J.-S., Han, J., Kim, M., & Yang, J.-H. (2006) · Journal of Korean Medical Science · doi:10.3346/jkms.2006.21.1.11 · Cited by 17
Comparison between disclosure and non-disclosure approaches for trisomy 21 screening tests
Herman, A. (2002) · Human Reproduction · doi:10.1093/humrep/17.5.1358 · Cited by 17
“A decade ago, first-trimester ultrasound screening programmes broke through (Nicolaides et al., 1992) and their feasibility and effectiveness were reconfirmed by numerous reports (Snijders et al., 1998; Hafner et al., 1998; Thilaganathan et al., 1999).”
BackgroundSciortino, G., Orlandi, E., Valenti, C., & Tegolo, D. (2016) · Image Analysis & Stereology · doi:10.5566/ias.1352 · Cited by 16
“In the faraway years the FMF proposed a new methodology based on a combination of the measurement of the nuchal translucency and the maternal age to reduce the risk of trisomy 21 (Snijders et al., 1998).”
MethodGyselaers, W., Hulstaert, F., & Neyt, M. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4704 · Cited by 16
“It is in agreement with a proportion of 94.8% (95% CI 92.5–96.5) reported in Paris19 and 93.3% (250 out of 268) in the UK.20 In Belgium, pregnancy termination is associated with a 24–48 h hospitalization and costs on average €914/patient.”
BackgroundInfluentialGuibourdenche, J., Leguy, M.-C., Pidoux, G., Hébert-Schuster, M., Laguillier, C., Anselem, O., Grangé, G., Bonnet-Serrano, F., & Tsatsaris, V. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24087669 · Cited by 17
“Since then, fetal ultrasound scanning for those fetal abnormalities during the second trimester of gestation and, presently, increased nuchal translucency (NT) during the first trimester of gestation has become a major component of prenatal screening [5,6].”
BackgroundMeasurement of Nuchal Translucency and the Prenatal Diagnosis of Down Syndrome
Saucedo, M., DeVigan, C., Vodovar, V., Lelong, N., Goffinet, F., & Khoshnood, B. (2009) · Obstetrics and Gynecology · doi:10.1097/aog.0b013e3181b6f251 · Cited by 16
Beta, J., Szekeres‐Barthó, J., Skyfta, E., Akolekar, R., & Nicolaides, K. H. (2011) · Fetal Diagnosis and Therapy · doi:10.1159/000322388 · Cited by 16
“The aim of this study was to investigate whether the maternal serum concentration of PIBF is altered in the first trimester of pregnancy in patients who subsequently deliver spontaneously before 34 weeks. Methods Screening Study Population The data for this study were derived from a prospective screening study for adv…”
MethodMaternal serum insulin-like growth factor-binding protein-3 (IGFBP-3) at 11–13 weeks in preeclampsia
Sifakis, S., Akolekar, R., Kappou, D., Mantas, N., & Nicolaides, K. H. (2011) · Journal of Human Hypertension · doi:10.1038/jhh.2011.16 · Cited by 16
First trimester combined screening test in pregnancies derived from blastocyst transfer
Cavoretto, P. I., Dallagiovanna, C., Viganò, P., Somigliana, E., Persico, N., Papaleo, E., Faulisi, S., & Candiani, M. (2015) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2015.12.026 · Cited by 16
“Ultrasound exams were performed transabdominally or transvaginally (when the abdominal imaging was not satisfactory) by certified operators according to the protocol of the Fetal Medicine Foundation [7] and using adequate ultrasound equipment.”
MethodInfluentialHovsepian, S., Sharifzadeh, M., Adibi, A., & Kazemi, K. (2015) · Journal of Research in Medical Sciences · doi:10.4103/1735-1995.172786 · Cited by 16
Ducarme, G., Graesslin, O., Alanio, E., Bige, V., Gaillard, D. A., & Gabriel, R. (2005) · Gynécologie Obstétrique & Fertilité · doi:10.1016/j.gyobfe.2005.07.031 · Cited by 16
Monni, G., Corda, V., Iuculano, A., & Afshar, Y. (2020) · Journal of Perinatal Medicine · doi:10.1515/jpm-2020-0035 · Cited by 18
Maternal Serum Screening Markers and Adverse Outcome: A New Perspective
Krantz, D., Hallahan, T., Janik, D., & Carmichael, J. B. (2014) · Journal of Clinical Medicine · doi:10.3390/jcm3030693 · Cited by 15
Sifakis, S., Akolekar, R., Kappou, D., Mantas, N., & Nicolaides, K. H. (2012) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2011.12.022 · Cited by 16
Sadłecki, P., Grabiec, M., Walentowicz, P., & Walentowicz‐Sadlecka, M. (2018) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-018-1812-3 · Cited by 16
Photonic Crystal Multiplexer/Demultiplexer Device for Optical Communications
Shaari, S., & A, A. J. M. (2010) · InTech eBooks · doi:10.5772/39535 · Cited by 16
Westin, M., Källén, K., Saltvedt, S., Almström, H., Grünewald, C., & Valentin, L. (2007) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.5138 · Cited by 16
Case Report: Can nuchal cord cause transient increased nuchal translucency thickness?
Maymon, R., Herman, A., Dreazen, E., Tovbin, Y., Bukovsky, I., & Weinraub, Z. (1999) · Human Reproduction · doi:10.1093/humrep/14.2.556 · Cited by 16
Rizzo, G., Capponi, A., Pietrolucci, M. E., Capece, A., & Arduini, D. (2010) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.7699 · Cited by 16
Michailidis, G. D., Spencer, K., & Economides, D. L. (2001) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1016/s0306-5456(01)00241-8 · Cited by 16
Canini, S., Prefumo, F., Famularo, L., Venturini, P. L., Palazzese, V., & Biasio, P. D. (2002) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm.2002.103 · Cited by 16
Bekker, M. N., Arkesteijn, J. B., van den Akker, N. M. S., Hoffman, S., Webb, S., van Vugt, J. M. G., & Groot, A. C. G. (2005) · Pediatric Research · doi:10.1203/01.pdr.0000187795.82497.31 · Cited by 16
“Nevertheless, increased NT in the human fetus is also associated with other aneuploidies, such as trisomy 13, trisomy 18 and Turner syndrome, and occurs in cases of normal karyotype (1).”
BackgroundViossat, P., Cans, C., Marchal-André, D., Althuser, M., Tomasella, T., Pons, J. C., & Jouk, P. (2005) · Journal de gynécologie, obstétrique et biologie de la reproduction. Supplément/Journal de gynécologie obstétrique et biologie de la reproduction · doi:10.1016/s0368-2315(05)82740-1 · Cited by 16
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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