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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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The hidden mortality of monochorionic twin pregnancies
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Pandya, P. P., Snijders, R. J. M., Johnson, S. P., Brizot, M. D. L., & Nicolaides, K. H. (1995) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.1995.tb10902.x · Cited by 409
The lambda sign at 10–14 weeks of gestation as a predictor of chorionicity in twin pregnancies
Sepúlveda, W., Sebire, N. J., Hughes, K., Odibo, A. O., & Nicolaides, K. H. (1996) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.1996.07060421.x · Cited by 357
Nicolaides, K. H., Brizot, M. D. L., & Snijders, R. J. M. (1994) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.1994.tb11946.x · Cited by 353
Maternal Age and Gestational Age-Specific Risk for Chromosomal Defects
Snijders, R. J. M., Sebire, N. J., & Nicolaides, K. H. (2009) · Fetal Diagnosis and Therapy · doi:10.1159/000264259 · Cited by 278
Increased nuchal translucency at 10—14 weeks of gestation as a marker for major cardiac defects
Hyett, J. A., Perdu, M., Sharland, G. K., Snijders, R. J. M., & Nicolaides, K. H. (1997) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.1997.10040242.x · Cited by 234
Chromosomal defects and outcome in 1015 fetuses with increased nuchal translucency
Pandya, P. P., Kondylios, A., Hilbert, L., Snijders, R. J. M., & Nicolaides, K. H. (1995) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.1995.05010015.x · Cited by 231
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Increased nuchal translucency and distended jugular lymphatic sacs on first‐trimester ultrasound
Bekker, M. N., Haak, M. C., Rekoert‐Hollander, M., Twisk, J. W. R., & van Vugt, J. M. G. (2005) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1831 · Cited by 59
Falcón, O., Peralta, C. F. A., Cavoretto, P. I., Faiola, S., & Nicolaides, K. H. (2005) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1975 · Cited by 58
Maymon, R., Levinsohn‐Tavor, O., Cuckle, H., Tovbin, Y., Dreazen, E., Wiener, Y., & Herman, A. (2005) · Prenatal Diagnosis · doi:10.1002/pd.1207 · Cited by 58
“The excess skin of DS individuals can be assessed by ultrasound as either increased nuchal translucency (NT) in the first trimester (Snijders et al., 1998) or increased nuchal fold in the second (Benacerraf et al., 1987).”
Prevalence and Outcome of Absence of Ductus Venosus at 11+0 to 13+6 Weeks
STABOULIDOU, I., Pereira, S., Cruz, J. D. J., Syngelaki, A., & Nicolaides, K. H. (2011) · Fetal Diagnosis and Therapy · doi:10.1159/000323593 · Cited by 57
Petersen, O. B., Smith, E., Opstal, D. V., POLAK, M. G., Knapen, M. F. C. M., Diderich, K. E. M., Bilardo, C. M., Arends, L. R., Vogel, I., & Srebniak, M. I. (2020) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1111/aogs.13877 · Cited by 58
Time for total shift to first-trimester screening for Down's syndrome
Cuckle, H. (2001) · The Lancet · doi:10.1016/s0140-6736(01)06724-1 · Cited by 57
Metabolomic analysis for first-trimester Down syndrome prediction
Bahado-Singh, R. O., Akolekar, R., Mandal, R., Dong, E., Xia, J., Kruger, M. L., Wishart, D. S., & Nicolaides, K. H. (2013) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2012.12.035 · Cited by 56
Spencer, K., Cicero, S., Atzei, A., Otigbah, C., & Nicolaides, K. H. (2005) · Prenatal Diagnosis · doi:10.1002/pd.1229 · Cited by 56
“To take account of gestational variation in NT, we expressed the measured fetal NT as the difference from the normal median NT at the measured crown-rump length (CRL) established in a large multicentre study (Snijders et al., 1998).”
MethodDagklis, T., Plasencia, W., Maíz, N., Duarte, L. D. B., & Nicolaides, K. H. (2007) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.5224 · Cited by 55
Ultrasound Evaluation of the First Trimester
Doubilet, P. M. (2014) · Radiologic Clinics of North America · doi:10.1016/j.rcl.2014.07.004 · Cited by 55
Comparing Three Screening Strategies for Combining First- and Second-Trimester Down Syndrome Markers
Palomaki, G. E., Steinort, K., Knight, G. J., & Haddow, J. E. (2006) · Obstetrics and Gynecology · doi:10.1097/01.aog.0000195061.48747.f4 · Cited by 55
Intertwin discordance in fetal size at 11–13 weeks' gestation and pregnancy outcome
Litwińska, E., Syngelaki, A., Cimpoca-Raptis, B. A., Sapantzoglou, I., & Nicolaides, K. H. (2019) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.21923 · Cited by 54
Äyräs, O., Tikkanen, M., Eronen, M., Paavonen, J. A., & Stefanović, V. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4143 · Cited by 54
Sonographic screening for trisomy 13 at 11 to 13+6 weeks of gestation
Papageorghiou, A. T., Avgidou, K., Spencer, K., Nix, B., & Nicolaides, K. H. (2006) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2005.08.010 · Cited by 54
“which included 326 pregnancies with trisomy 21 and 46 with trisomy 13, the estimated risk for trisomy 21 was 1 in R300 in 8% of the normal pregnancies, in 82% of pregnancies with trisomy 21, and in 80% of pregnancies with trisomy 13.(4) In addition to increased NT, trisomy 13 is associated with fetal tachycardia and m…”
BackgroundMethodResultInfluentialHuang, J., Poon, L. C., Akolekar, R., Choy, K. W., Leung, T. Y., & Nicolaides, K. H. (2014) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.13384 · Cited by 53
Rizzo, G., Capponi, A., Cavicchioni, O., Vendola, M., & Arduini, D. (2007) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.4092 · Cited by 53
Zoppi, M. A., IBBA, R. M., PUTZOLU, M., FLORIS, M., & MONNI, G. (2001) · Obstetrics and Gynecology · doi:10.1016/s0029-7844(01)01381-3 · Cited by 53
Lopes, L. M., Brizot, M. D. L., Lopes, M. A. B., Ayello, V. D., Schultz, R., & Zugaib, M. (2003) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.905 · Cited by 53
Benacerraf, B. R. (2010) · Prenatal Diagnosis · doi:10.1002/pd.2531 · Cited by 52
“…developed the measurement of the fetal nuchal soft tissues for use in the first-trimester, calling it the nuchal translucency and measuring it in the longitudinal midline plane of the fetus, using a very standardized technique (Nicolaides et al., 1992; Pandya et al., 1995; Snijders et al., 1998).”
Zhang, Z., Hu, T., Wang, J., Li, Q., Wang, H., & Liu, S. (2019) · BioMed Research International · doi:10.1155/2019/6504159 · Cited by 53
Pregnancy outcomes with increased nuchal translucency after routine Down syndrome screening
Cheng, C., Bahado-Singh, R. O., Chen, S.-C., & Tsai, M.-S. (2003) · International Journal of Gynecology & Obstetrics · doi:10.1016/s0020-7292(03)00206-6 · Cited by 52
Trisomy 16 detected by first trimester screening
Petracchi, F., Igarzábal, L., Crespo, M. R., & Gadow, E. C. (2009) · Prenatal Diagnosis · doi:10.1002/pd.2369 · Cited by 52
“…combination of maternal age, fetal nuchal translucency (NT) thickness, serum-free β-human chorionic gonadotrophin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11 to 13 + 6 weeks of gestation, with a detection rate of about 90% for a falsepositive rate of 5% (Snijders et al., 1998).”
BackgroundDépistage de la trisomie 21 en France: le consensus du pire
Rozenberg, P., Bussières, L., & Sénat, M. (2007) · Journal de gynécologie, obstétrique et biologie de la reproduction. Supplément/Journal de gynécologie obstétrique et biologie de la reproduction · doi:10.1016/j.jgyn.2006.12.021 · Cited by 52
Sonek, J., Kagan, K. O., & Nicolaides, K. H. (2016) · Clinics in Laboratory Medicine · doi:10.1016/j.cll.2016.01.009 · Cited by 53
“development of first-trimester ultrasound screening for fetal aneuploidy using nuchal translucency (NT) measurement.(3,4) This screening was quickly followed by the realization that NT thickening can be associated with a whole host of other fetal abnormalities.”
Krantz, D., Hallahan, T., Macri, V. J., & Macri, J. N. (2005) · Prenatal Diagnosis · doi:10.1002/pd.1188 · Cited by 51
“Combined likelihood ratios were calculated by multiplying the appropriate biochemistry likelihood by the likelihood ratio for nuchal translucency determined using the algorithm of the Fetal Medicine Foundation (Snijders et al., 1998).”
Salomon, L. J., Bernard, M., Amarsy, R., Bernard, J. P., & Ville, Y. G. (2009) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.6371 · Cited by 51
A historical and practical review of first trimester aneuploidy screening
Russo, M. L., & Blakemore, K. J. (2013) · Seminars in Fetal and Neonatal Medicine · doi:10.1016/j.siny.2013.11.013 · Cited by 51
Fetal RHD Genotyping in Maternal Plasma at 11–13 Weeks of Gestation
Akolekar, R., Finning, K. M., Kuppusamy, R., Daniels, G. L., & Nicolaides, K. H. (2011) · Fetal Diagnosis and Therapy · doi:10.1159/000322959 · Cited by 51
“The aim of our study was to examine the feasibility of fetal RHD genotyping at 11–13 weeks’ gestation in a large screening population and to evaluate the diagnostic accuracy of the test using a high-throughput technique utilizing robotic isolation of DNA from maternal plasma. MethodsThis study was part of a large pros…”
MethodLeung, T. Y., Spencer, K., Leung, T. N., Fung, T. Y., & Lau, T. K. (2005) · Fetal Diagnosis and Therapy · doi:10.1159/000089064 · Cited by 51
Prenatal diagnosis of spina bifida: from intracranial translucency to intrauterine surgery
Sepúlveda, W., Wong, A. E., Sepúlveda, F., Alcalde, J. L., Devoto, J. C., & Felipe Otayza, M. (2017) · Child s Nervous System · doi:10.1007/s00381-017-3445-7 · Cited by 51
EFFECT OF STUDY DESIGN ON THE ASSOCIATION BETWEEN NUCHAL TRANSLUCENCY MEASUREMENT AND DOWN SYNDROME
Mol, B. W., Lijmer, J. G., van der Meulen, J., Pajkrt, E., Bilardo, C. M., & Bossuyt, P. M. (1999) · Obstetrics and Gynecology · doi:10.1016/s0029-7844(99)00496-2 · Cited by 51
“Such data were recently provided by Snijders et al in a study that reported on over 100,000 women, thereby being the largest cohort thus far.(35) This study, not included in the present analysis since it was published after February 1998, is an extension of the study published by Pandya et al.”
ResultMatias, A., Montenegro, N. A. M. D. M., & Areias, J. C. (2000) · Twin Research · doi:10.1375/136905200320565490 · Cited by 51
Ľubušký, M., Dhaifalah, I., Procházka, M., Hyjánek, J., Mickova, I., Vomáčková, K., & Šantavý, J. (2007) · Prenatal Diagnosis · doi:10.1002/pd.1672 · Cited by 51
“…study (at 11–14 weeks’ gestation) (Rembouskos et al., 2003) the population was preselected for fetal karyotyping by a combination of maternal age, being on average 37 years, and increased fetal NT, which was above the 95th centile for Crownrump length (CRL) in 36% of cases (Snijders et al., 1998).”
Maymon, R., Jauniaux, E. R. M., Cohen, O., Dreazen, E., Weinraub, Z., & Herman, A. (2000) · Human Reproduction · doi:10.1093/humrep/15.9.2023 · Cited by 51
“As the pregnancy continues, this collection may resolve and a thick nuchal fold ensuesis aneuploidy (Snijders et al., 1996, 1998; Taipale et al., 1997) contributing to 40% of the cases in the present report.”
BackgroundImage-scoring system for crown-rump length measurement
Wanyonyi, S. Z., Napolitano, R., Ohuma, E. O., Salomon, L. J., & Papageorghiou, A. T. (2014) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.13376 · Cited by 51
Lachmann, R., Sinkovskaya, E. S., & Abuhamad, A. (2012) · Prenatal Diagnosis · doi:10.1002/pd.3899 · Cited by 50
“providing routine first-trimester screening for chromosomal abnormalities by measurement of fetal NT thickness.(3) Databases”
BackgroundMethodFrontomaxillary facial angle in chromosomally normal fetuses at 11 + 0 to 13 + 6 weeks
Borenstein, M., Persico, N., Kaihura, C. T., Sonek, J., & Nicolaides, K. H. (2007) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.5134 · Cited by 49
Recent advances in the prenatal interrogation of the human fetal genome
Hui, L., & Bianchi, D. W. (2012) · Trends in Genetics · doi:10.1016/j.tig.2012.10.013 · Cited by 50
Maternal serum placental growth factor at 11–13 weeks in chromosomally abnormal pregnancies
Zaragoza, E., Akolekar, R., Poon, L. C., Pepes, S., & Nicolaides, K. H. (2009) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.6331 · Cited by 50
Frontomaxillary facial angles in screening for trisomy 21 at 14-23 weeks’ gestation
Sonek, J., Borenstein, M., Downing, C., McKenna, D. S., Neiger, R., Croom, C. S., Genrich, T., & Nicolaides, K. H. (2007) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2007.03.059 · Cited by 49
BENN, P. A. (2002) · Clinica Chimica Acta · doi:10.1016/s0009-8981(02)00187-0 · Cited by 50
“The UK multicenter trial [44] showed that Down syndrome screening using NT preferentially identifies many other aneuploidies.”
BackgroundSepulveda, W., & Wong, A. E. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4235 · Cited by 49
Maternal thyroid function at 11 to 13 weeks of gestation and subsequent development of preeclampsia
Ashoor, G., Maíz, N., Rotas, M., Kametas, N. A., & Nicolaides, K. H. (2010) · Prenatal Diagnosis · doi:10.1002/pd.2566 · Cited by 49
“Third, an ultrasound scan is carried out to confirm gestational age from the measurement of the fetal crown-rump length (CRL), to diagnose any major fetal abnormalities and to measure fetal nuchal translucency thickness (NT) (Snijders et al., 1998).”
Protocol for measurement of mean arterial pressure at 10–40 weeks’ gestation
Roberts, L., Chaemsaithong, P., Sahota, D. S., Nicolaides, K. H., & Poon, L. C. (2017) · Pregnancy Hypertension · doi:10.1016/j.preghy.2017.08.002 · Cited by 48
First-Trimester Combined Screening for Down Syndrome and Other Fetal Anomalies
O'Leary, P. C., Breheny, N., Dickinson, J. E., Bower, C. I., Goldblatt, J., Hewitt, B. G., Murch, A. R., & Stock, R. (2006) · Obstetrics and Gynecology · doi:10.1097/01.aog.0000207562.09858.16 · Cited by 49
Kharrat, R., Masami Yamamoto, C., Roume, J., Couderc, S., Vialard, F., Hillion, Y., & Ville, Y. G. (2006) · Prenatal Diagnosis · doi:10.1002/pd.1423 · Cited by 49
First-Trimester Ductus Venosus, Nasal Bones, and Down Syndrome in a High-Risk Population
Prefumo, F., Sethna, F., Sairam, S., Bhide, A., & Thilaganathan, B. (2005) · Obstetrics and Gynecology · doi:10.1097/01.aog.0000161368.77506.ab · Cited by 49
“In all cases crown-rump length and nuchal translucency were measured before CVS, and a nuchal translucencyadjusted risk for trisomy 21 was calculated.(11) The indication for CVS was an increased risk (more than 1:300) for trisomy 21 based on maternal age and nuchal trans-”
MethodAssessment of the fetal nasal bone at 11–14 weeks of gestation by three‐dimensional ultrasound
Rembouskos, G., Cicero, S., Longo, D., Vandecruys, H., & Nicolaides, K. H. (2004) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.952 · Cited by 49
Abele, H., Wagner, P., Sonek, J., Hoopmann, M., Brucker, S. Y., Ülkümen, B. A., & Kagan, K. O. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4664 · Cited by 48
“This includes CRL and NT measurements as well as a thorough anatomical fetal assessment looking for the presence of major anatomic defects.(11,12) In addition, the NB, TF and DV are examined in each case.”
MethodMaternal serum vitamin D levels at 11–13 weeks of gestation in preeclampsia
Yu, C.-S., Ertl, R., Skyfta, E., Akolekar, R., & Nicolaides, K. H. (2012) · Journal of Human Hypertension · doi:10.1038/jhh.2012.1 · Cited by 50
Ekelund, C. K., Petersen, O. B., Skibsted, L., Kjaergaard, S., Vogel, I., & Tabor, A. (2011) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.8929 · Cited by 48
First and early second trimester fetal heart screening
Yagel, S., Cohen, S. M., & Messing, B. (2007) · Current Opinion in Obstetrics & Gynecology · doi:10.1097/gco.0b013e3280895de6 · Cited by 48
Fetal gender screening by ultrasound at 11 to 13 +6 weeks
Hsiao, C.-Y., Wang, H. C., HSIEH, C. F., & Hsu, J. J. (2007) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1080/00016340701571905 · Cited by 48
Cell‐free fetal DNA screening in the USA: a cost analysis of screening strategies
Evans, M. I., Sonek, J., Hallahan, T., & Krantz, D. (2014) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.14693 · Cited by 47
Diagnosis of fetal defects in twin pregnancies at routine 11–13‐week ultrasound examination
Syngelaki, A., Cimpoca-Raptis, B. A., Litwińska, E., Akolekar, R., & Nicolaides, K. H. (2019) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.21938 · Cited by 47
Sonographic Markers of Fetal Aneuploidy—A Review
Cicero, S., Sacchini, C., Rembouskos, G., & Nicolaides, K. H. (2003) · Placenta · doi:10.1016/s0143-4004(03)00141-3 · Cited by 47
“To calculate the individual risk for Trisomy 21, in a fetus with a given crown–rump length, every NT measurement represents a factor which is multiplied by the prior odds to calculate the posterior risk (Snijders et al., 1998).”
MethodHershkovitz, R., de Swiet, M., & Kingdom, J. C. (2005) · Hypertension in Pregnancy · doi:10.1080/10641950500280995 · Cited by 47
“Uterine artery Doppler was performed at 24 weeks of gestation using color and pulsed Doppler localization of the ‘‘crossover’’ point of the uterine artery and external iliac artery, as previously described (6).”
The nasal bone in fetuses with trisomy 21: sonographic versus pathomorphological findings
Minderer, S., Gloning, K.-P., Henrich, W., & Stöger, H. (2003) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.160 · Cited by 47
Chen, C., Chern, S., Chang, T., Chen, W., Chen, L., Wang, W., & Chen, H.-E. C. (2005) · Prenatal Diagnosis · doi:10.1002/pd.1162 · Cited by 47
“For instance, up to 82% of fetuses with trisomy 21 have been found among screen-positive patients (Snijders et al., 1998).”
BackgroundPrenatal therapy in transient abnormal myelopoiesis: a systematic review
Tamblyn, J. A., Norton, A., Spurgeon, L. C., Donovan, V., Russell, A. B., Bonnici, J., Perkins, K., Vyas, P., Roberts, I. A. G., & Kilby, M. D. (2015) · Archives of Disease in Childhood Fetal & Neonatal · doi:10.1136/archdischild-2014-308004 · Cited by 46
Saltvedt, S., Almström, H., Kublickas, M., Valentin, L., BOTTINGA, R., Bui, T. ‐., Cederholm, M., Conner, P., Dannberg, B., Malcus, P., et al. (2005) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1917 · Cited by 46
Routine ultrasound screening in diabetic pregnancies
Wong, S. F., Chan, F.-Y., Cincotta, R., Oats, J. J. N., & McIntyre, D. H. (2002) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.0960-7692.2001.00560.x · Cited by 47
Gjerris, A. C., Loft, A. G., Pinborg, A. B., Christiansen, M., & Tabor, A. (2008) · Human Reproduction · doi:10.1093/humrep/den362 · Cited by 46
“All physicians, nurses or midwives performing the NT scans were certified according to the Fetal Medicine Foundation (Snijders et al., 1998).”
MethodChristiansen, M., & Larsen, S. O. (2002) · Prenatal Diagnosis · doi:10.1002/pd.336 · Cited by 46
“In weeks 10–14 the thickness of the nuchal translucency (NT) of the fetus is a very effective discriminator between normal pregnancies and pregnancies with a fetus with a chromosome anomaly or other severe syndrome (Snijders et al., 1998; Spencer et al., 1999).”
BackgroundNo. 375-Clinical Practice Guideline on the Use of First Trimester Ultrasound
den Hof, M. C. V., Smithies, M., Nevo, O., & Oullet, A. (2019) · Journal of Obstetrics and Gynaecology Canada · doi:10.1016/j.jogc.2018.09.020 · Cited by 45
Chasen, S. T., Sharma, G., Kalish, R. B., & Chervenak, F. A. (2003) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.174 · Cited by 45
Jost, E., Kosian, P., Jimenez Cruz, J., Albarqouni, S., Gembruch, U., Strizek, B., & Recker, F. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12216833 · Cited by 44
“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].”
BackgroundMaternal serum adiponectin at 11 to 13 weeks of gestation in the prediction of macrosomia
Nanda, S., Akolekar, R., Sarquis, R., Mosconi, A. P., & Nicolaides, K. H. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2723 · Cited by 44
“(Robinson and Fleming, 1975; Snijders et al., 1998; Kagan et al., 2008).”
Fetal trunk and head volume in chromosomally abnormal fetuses at 11 + 0 to 13 + 6 weeks of gestation
Falcón, O., Peralta, C. F. A., Cavoretto, P. I., Auer, M., & Nicolaides, K. H. (2005) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1990 · Cited by 44
Role of First-Trimester Sonography in the Diagnosis of Aneuploidy and Structural Fetal Anomalies
Abu-Rustum, R., Daou, L., & Abu-Rustum, S. E. (2010) · Journal of Ultrasound in Medicine · doi:10.7863/jum.2010.29.10.1445 · Cited by 44
Perni, S. C., Predanić, M., Kalish, R. B., Chervenak, F. A., & Chasen, S. T. (2006) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2005.06.068 · Cited by 44
D’Alton, M. E., Cleary‐Goldman, J., Lambert-Messerlian, G. M., Ball, R. H., Nyberg, D. A., Comstock, C. H., Bukowski, R. K., Berkowitz, R. L., Dar, P., Dugoff, L., et al. (2009) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.6265 · Cited by 44
“were employed: (1) a standardized protocol utilized”
Three-dimensional vaginal sonography in obstetrics and gynaecology
Maymon, R. (2000) · Human Reproduction Update · doi:10.1093/humupd/6.5.475 · Cited by 44
Schuchter, K., Hafner, E., Stangl, G., Ogris, E., & Philipp, K. (2001) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2001.00458.x · Cited by 44
The use of three-dimensional ultrasound for fetal gender determination in the first trimester
Michailidis, G. D., Papageorgiou, P., Morris, R. W., & Economides, D. L. (2003) · British Journal of Radiology · doi:10.1259/bjr/13479830 · Cited by 44
Peralta, C. F. A., Falcón, O., Węgrzyn, P., Faro, C. B. D. A., & Nicolaides, K. H. (2005) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1885 · Cited by 44
Prenatal Sonographic Features of Fetuses in Trisomy 13 Pregnancies (I)
Chen, C. (2009) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/s1028-4559(09)60292-8 · Cited by 43
Prevention and Detection of Diabetic Embryopathy
McLeod, L., & Ray, J. G. (2002) · Public Health Genomics · doi:10.1159/000064629 · Cited by 44
Oversight of Quality Improvement
Lo, B., & Groman, M. (2003) · Archives of Internal Medicine · doi:10.1001/archinte.163.12.1481 · Cited by 43
Borenstein, M., Persico, N., Strobl, I., Sonek, J., & Nicolaides, K. H. (2007) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.5188 · Cited by 42
Kagan, K. O., Wright, D. E., Maíz, N., Pandeva, I., & Nicolaides, K. H. (2008) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.6123 · Cited by 43
Falcón, O., Cavoretto, P. I., Peralta, C. F. A., Csapó, B., & Nicolaides, K. H. (2005) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1991 · Cited by 42
Cavoretto, P. I., Giorgione, V., Cipriani, S., Viganò, P., Candiani, M., Inversetti, A., Ricci, E. D., & Parazzini, F. (2017) · Prenatal Diagnosis · doi:10.1002/pd.5052 · Cited by 42
Maternal Serum Activin A at 11–13 Weeks of Gestation in Hypertensive Disorders of Pregnancy
Akolekar, R., Etchegaray, A., Zhou, Y., Maíz, N., & Nicolaides, K. H. (2009) · Fetal Diagnosis and Therapy · doi:10.1159/000235878 · Cited by 42
“In addition, the maternal serum PAPP-A and free betahuman chorionic gonadotropin (ß-hCG) are determined and the results are combined with the fetal NT to calculate the patient-specific risk for trisomy 21 (Snijders et al., 1998; Kagan et al., 2008a).”
MethodIncreased nuchal translucency with normal karyotype and anomaly scan: What next?
Bakker, M., Pajkrt, E., & Bilardo, C. M. (2013) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1016/j.bpobgyn.2013.10.004 · Cited by 42
Rozenberg, P. (2002) · Human Reproduction · doi:10.1093/humrep/17.4.1093 · Cited by 42
Isolated echogenic foci in the fetal heart as marker of chromosomal abnormality
Huggon, I. C., Cook, A. C., Simpson, J. M., Smeeton, N., & Sharland, G. K. (2001) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2001.00307.x · Cited by 42
Vandecruys, H., Avgidou, K., Surerus, E., Flack, N. J., & Nicolaides, K. H. (2006) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.2836 · Cited by 41
Maymon, R., Dreazen, E., Tovbin, Y., Bukovsky, I., Weinraub, Z., & Herman, A. (1999) · Human Reproduction · doi:10.1093/humrep/14.8.2102 · Cited by 41
Contribution of Method of Conception on Pregnancy Outcome after the 11–13 Weeks Scan
Chaveeva, P., Carbone, I. F., Syngelaki, A., Akolekar, R., & Nicolaides, K. H. (2011) · Fetal Diagnosis and Therapy · doi:10.1159/000323921 · Cited by 39
Cicero, S., Spencer, K., Avgidou, K., Faiola, S., & Nicolaides, K. H. (2005) · Prenatal Diagnosis · doi:10.1002/pd.1211 · Cited by 40
“large study (Snijders et al., 1998).”
MethodPrenatal screening for Down syndrome in England and Wales and population-based birth outcomes
Smith‐Bindman, R., Chu, P., Bacchetti, P., Waters, J. J., Mutton, D. E., & Alberman, E. D. (2003) · American Journal of Obstetrics and Gynecology · doi:10.1067/s0002-9378(03)00721-x · Cited by 40
Pregnancy Outcome and Prognosisin Fetuses with Increased First-TrimesterNuchal Translucency
Mangione, R., Guyon, F., Taine, L., Wen, Z. Q., Roux, D., Vergnaud, A., Maugey‐Laulom, B., Horovitz, J., & Saura, R. (2001) · Fetal Diagnosis and Therapy · doi:10.1159/000053941 · Cited by 40
Examination of fetal nasal bone and repeatability of measurement in early pregnancy
Kanellopoulos, V., Katsetos, C., & Economides, D. L. (2003) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.177 · Cited by 40
“Arrows in (a) indicate nasal skin (1), cartilage (2) and bone (3).”
BackgroundMaíz, N., Wright, D. E., Ferreira, A. F. A., Syngelaki, A., & Nicolaides, K. H. (2012) · Fetal Diagnosis and Therapy · doi:10.1159/000337322 · Cited by 40
Recent advances in non‐invasive prenatal DNA diagnosis through analysis of maternal blood
Sekizawa, A., Purwosunu, Y., Matsuoka, R., Koide, K., Okazaki, S., Farina, A., Saito, H., & Okai, T. (2007) · Journal of obstetrics and gynaecology research · doi:10.1111/j.1447-0756.2007.00652.x · Cited by 39
Carbone, I. F., Cruz, J. D. J., Sarquis, R., Akolekar, R., & Nicolaides, K. H. (2011) · Human Reproduction · doi:10.1093/humrep/der117 · Cited by 39
Georgios, A., Panagiotis, G., & Decavalas, G. (2013) · Intern J Endocrinol Metab · doi:10.5812/ijem.5014 · Cited by 39
Westin, M., Saltvedt, S., Almström, H., Grünewald, C., & Valentin, L. (2007) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.3905 · Cited by 39
Maternal Thyroid Function at 11–13 Weeks of Gestation
Ashoor, G., Kametas, N. A., Akolekar, R., Guisado, J., & Nicolaides, K. H. (2010) · Fetal Diagnosis and Therapy · doi:10.1159/000313301 · Cited by 39
“The aims of this study are firstly to establish reference ranges of serum TSH, FT3 and FT4 at 11–13 weeks in a large number of singleton pregnancies with no known thyroid disease and in the absence of anti-thyroperoxidase (anti-TPO) and anti-thyroglobulin (anti-Tg) antibodies, and secondly to examine the effect of mat…”
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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