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UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation
Abstract
Background Prenatal diagnosis of trisomy 21 currently relies on assessment of risk followed by invasive testing in the 5% of pregnancies at the highest estimated risk. Selection of the high-risk group by a combination of maternal age and second-trimester maternal serum biochemistry gives a detection rate of about 60%. We investigated assessment of risk by a combination of maternal age and fetal nuchal-translucency thickness, measured by ultrasonography at 10-14 weeks of gestation.Methods The risk of trisomy 21 was estimated for 96127 women of median age 31 years (range 14-49) with singleton pregnancies. Ultrasonography was done by 306 appropriately trained sonographers in 22 centres. Risk of trisomy 21 was calculated from the maternal age and gestational-age-related prevalence, multiplied by a likelihood ratio depending on the deviation from normal in nuchal-translucency thickness for crown-rump length. The distribution of risks was investigated and the sensitivity of a cut-off risk of 1 in 300 was calculated. Phenotype was assessed by fetal karyotyping or clinical examination of liveborn infants.Findings The estimated trisomy-21 risk, from maternal age and fetal nuchal-translucency thickness, was 1 in 300 or higher in 7907 (8.3%) of 95476 normal pregnancies, 268 (82-2%) of 326 with trisomy 21, and 253 (77.9%) of 325 with other chromosomal defects. The 5% of the study population with the highest estimated risk included 77% of trisomy-21 cases.Interpretation Selection of the high-risk group for invasive testing by this method allows the detection of about 80% of affected pregnancies. However, even this method of risk assessment requires about 30 invasive tests for identification of one affected fetus.
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“Combining clinical information (maternal age and serum parameters) with sonographic assessment of fetal characteristics, predominantly the assessment of nuchal translucency (NT), is recommended practice [131].”
In the citing paper
“According to a large study of almost 10,000 women, the NT was above the 95th centile in 82.2% of fetuses with trisomy 21 and 77.9% with other chromosomal defects, therefore presenting as a valuable marker for identification of fetal abnormalities [45].”
From First-Trimester Ultrasound: A Comparative Review of Guidelines (2026) · cites this paper as [45]
In the citing paper
“More specifically, the CRL of the examined fetus should be between 45 mm and 84 mm according to the protocol described by Nicolaides et al. [45].”
From First-Trimester Ultrasound: A Comparative Review of Guidelines (2026) · cites this paper as [45]
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“On the other hand, the NT in combination with maternal age has a sensitivity of 82.2% and a negative predictive value of 99.9% [45].”
From First-Trimester Ultrasound: A Comparative Review of Guidelines (2026) · cites this paper as [45]
Citations
Cites
Nicolaides, K. H., Azar, G. B., Byrne, D. L., Mansur, C. A., & Marks, K. (1992) · BMJ · doi:10.1136/bmj.304.6831.867 · Cited by 1,051
Maternal serum screening for Down's syndrome in early pregnancy.
Wald, N. J., Cuckle, H., Densem, J. W., Nanchahal, K., Royston, P. J., Chard, T., Haddow, J. E., Knight, G. J., Palomaki, G. E., & Canick, J. A. (1988) · BMJ · doi:10.1136/bmj.297.6653.883 · Cited by 959
The hidden mortality of monochorionic twin pregnancies
Sebire, N. J., Snijders, R. J. M., Hughes, K., Sepúlveda, W., & Nicolaides, K. H. (1997) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.1997.tb10948.x · Cited by 627
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
Sebire, N. J., Snijders, R. J. M., Hughes, K., Sepúlveda, W., & Nicolaides, K. H. (1996) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.1996.tb09550.x · Cited by 219
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Pathak, S., & Lees, C. C. (2009) · Archives of Disease in Childhood Fetal & Neonatal · doi:10.1136/adc.2008.137919 · Cited by 38
Niemimaa, M., Suonpää, M. U., Perheentupa, A. H., Seppälä, M., Heinonen, S. T., Laitinen, P. H., Ruokonen, A., & Ryynänen, M. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200655 · Cited by 39
Multi‐Marker Maternal Serum Screening for Chromosomal Abnormalities
Cuckle, H., & BENN, P. A. (2009) · doi:10.1002/9781444314342.ch24 · Cited by 39
O'Leary, P. C., Breheny, N., Reid, G., Charles, T., & Emery, J. (2006) · Australian and New Zealand Journal of Obstetrics and Gynaecology · doi:10.1111/j.1479-828x.2006.00629.x · Cited by 38
“In 1998, Snijders et al. (1998) published a report on the antenatal risk assessment of fetal Down syndrome by”
BackgroundDown Syndrome Screening in the First and Second Trimesters: What Do the Data Show?
Rosen, T., & D’Alton, M. E. (2005) · Seminars in Perinatology · doi:10.1053/j.semperi.2006.01.001 · Cited by 38
Twin pregnancy: the role of ultrasound in management
Sperling, L., & Tabor, A. (2001) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1034/j.1600-0412.2001.080004287.x · Cited by 37
“In singleton pregnancies screening by maternal age and fetal nuchal translucency (NT) can identify about 80% of chromosomally abnormal fetuses for an invasive testing rate of 5% (29).”
BackgroundBeke, A., Joo, J., Csaba, Á., Lázár, L., Bán, Z., Papp, C., Tóth‐Pál, E., & Papp, Z. (2009) · Fetal Diagnosis and Therapy · doi:10.1159/000201946 · Cited by 38
Machlitt, A., Tennstedt, C., Körner, H., Bommer, C., & Chaoui, R. (2002) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2002.00688.x · Cited by 38
Matias, A., Ramalho, C. M. A., & Montenegro, N. A. M. D. M. (2005) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/14767050500232565 · Cited by 38
“8 mm at 84 mm), as described elsewhere [10].”
MethodPrenatal informed consent for sonogram: the time for first‐trimester nuchal translucency has come.
Chasen, S. T., Skupski, D. W., McCullough, L. B., & Chervenak, F. A. (2001) · Journal of Ultrasound in Medicine · doi:10.7863/jum.2001.20.11.1147 · Cited by 38
von Kaisenberg, C. S., Gasiorek‐Wiens, A., Bielicki, M., Bahlmann, F., Meyberg, H., Kossakiewicz, A., Pruggmayer, M., Kamin, G., Fritzer, E., Harris, C., et al. (2002) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/713605621 · Cited by 38
Reference values for fetal limb biometry at 10–14 weeks of gestation
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Nuchal translucency in pregnancies conceived after assisted reproduction technology
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Nanda, S., Nikoletakis, G., Markova, D. M., Poon, L. C., & Nicolaides, K. H. (2013) · Metabolism · doi:10.1016/j.metabol.2012.12.011 · Cited by 37
“[28] Snijders RJ, Noble P, Sebire N, et al.”
BackgroundMethodLee, Y.-B., Kim, M., & Kim, M. (2007) · Medical & Biological Engineering & Computing · doi:10.1007/s11517-007-0225-7 · Cited by 37
“Measurement of NT thickness in the first trimester of pregnancy has proved to be one of the most discriminating prenatal markers in screening for chromosomal abnormalities such as trisomies 13, 18 and 21 [14].”
BackgroundClinical proteomics in obstetrics and neonatology
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“, amniocentesis) but, for example, screening for the prototypic aneuploidy Down syndrome (DS) by noninvasive methods (plasma or ultrasound markers) still leads to tens of thousands false positives per year [2,3].”
BackgroundSrebniak, M. I., de Wit, M. C., Diderich, K. E. M., Govaerts, L. C. P., Joosten, M., Knapen, M. F. C. M., Bos, M. J., Looye-Bruinsma, G. A. G., Koningen, M., Go, A. T. J. I., et al. (2016) · Molecular Cytogenetics · doi:10.1186/s13039-016-0279-z · Cited by 37
Dulgheroff, F. F., Peixoto, A. B., Petrini, C. G., Caldas, T. M. R. D. C., Ramos, D. R., Magalhães, F. O., & Júnior, E. A. (2019) · Sao Paulo Medical Journal · doi:10.1590/1516-3180.2019.026906082019 · Cited by 38
STABOULIDOU, I., Galindo, A., Maíz, N., Karagiannis, G., & Nicolaides, K. H. (2009) · Fetal Diagnosis and Therapy · doi:10.1159/000235880 · Cited by 37
Gandhi, M., Fox, N. S., Russo-Stieglitz, K. E., Hanley, M. E., Matthews, G. V., & Rebarber, A. (2009) · Obstetrics and Gynecology · doi:10.1097/aog.0b013e3181b6bfdc · Cited by 37
Maternal serum resistin at 11 to 13 weeks' gestation in normal and pathological pregnancies
Nanda, S., Poon, L. C., Muhaisen, M., Acosta, I. C., & Nicolaides, K. H. (2011) · Metabolism · doi:10.1016/j.metabol.2011.10.006 · Cited by 38
“[40] Snijders RJ, Noble P, Sebire N, et al.”
BackgroundMethodUltrasonography in the detection of fetal anomalies in early pregnancy
Economides, D. L., Whitlow, B., & Braithwaite, J. M. (1999) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.1999.tb08317.x · Cited by 37
The comprehensive midtrimester test: High-sensitivity down syndrome test
Bahado-Singh, R. O., Shahabi, S., Karaca, M., Mahoney, M. J., Cole, L. A., & Öz, U. (2002) · American Journal of Obstetrics and Gynecology · doi:10.1067/mob.2002.121651 · Cited by 37
Calculating correct Down's syndrome risks
Cuckle, H., & Sehmi, I. K. (1999) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.1999.tb08277.x · Cited by 37
Burger, N. B., Bekker, M. N., de Groot, C. J. M., Christoffels, V. M., & Haak, M. C. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4586 · Cited by 36
“between 10 and 14weeks of human gestation is an important part of first-trimester screening for trisomy 21, trisomy 18 and trisomy 13.(1,2) In euploid fetuses, increased NT is associated with adverse pregnancy outcome caused by a variety of structural malformations (predominantly cardiac defects(3)), genetic syndromes…”
BackgroundTechnical Aspects of Nuchal Translucency Measurement
Abuhamad, A. (2005) · Seminars in Perinatology · doi:10.1053/j.semperi.2005.12.004 · Cited by 36
Geipel, A., Berg, C., Katalinic, A., Ludwig, M. Z., Germer, U., Diedrich, K., & Gembruch, U. (2004) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)60506-8 · Cited by 36
Sepúlveda, W., Wong, A. E., & Víctor Dezerega, P. (2007) · Obstetrics and Gynecology · doi:10.1097/01.aog.0000259311.87056.5e · Cited by 36
Ear length in trisomy 21 fetuses at 11–14 weeks of gestation
Sacchini, C., El-Sheikhah, A., Cicero, S., Rembouskos, G., & Nicolaides, K. H. (2003) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.903 · Cited by 35
Müller, M. A., Pajkrt, E., Bleker, O. P., Bonsel, G. J., & Bilardo, C. M. (2004) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1103 · Cited by 36
First trimester nuchal translucency: effective routine screening for Down's syndrome.
Thilaganathan, B., Sairam, S., Michailidis, G. D., & Wathen, N. C. (1999) · British Journal of Radiology · doi:10.1259/bjr.72.862.10673944 · Cited by 36
“Certification required the acquisition of 50 adequate nuchal translucency images [ 3 ].”
BackgroundMethodInfluentialCentre‐specific ultrasound nuchal translucency medians needed for Down syndrome screening
Logghe, H., Cuckle, H., & Sehmi, I. K. (2003) · Prenatal Diagnosis · doi:10.1002/pd.597 · Cited by 36
Sonographic spectrum of first‐trimester fetal cephalocele: review of 35 cases
Sepúlveda, W., Wong, A. E., En, A., Odegova, N., Martínez-Ten, P., & Meagher, S. (2014) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.14661 · Cited by 35
Lai, K. W., Min, T. Y., Arooj, A., & Supriyanto, E. (2010) · doi:10.5555/1865351.1865353 · Cited by 35
Screening for structural fetal anomalies during the nuchal translucency ultrasound examination
Weiner, Z., Goldstein, I., Bombard, A. T., Applewhite, L., & Itzkovits-Eldor, J. (2007) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2007.03.057 · Cited by 35
Law, L. W., Lau, T. K., Fung, T., Leung, T., Wang, C. C., & Choy, K. W. (2008) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.2008.01948.x · Cited by 35
Poon, L. C., Kametas, N. A., Bonino, S., Vercellotti, E., & Nicolaides, K. H. (2008) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.2007.01650.x · Cited by 35
Drysdale, K., Ridley, D., Walker, K., Higgins, B., & Dean, T. (2002) · Journal of Obstetrics and Gynaecology · doi:10.1080/01443610120113300 · Cited by 35
“The benefits of early pregnancy scanning have been described previously (Campbell et al., 1982; Reading et al., 1982; Pandya et al., 1995; Nicolaides, 1996; Sepulveda et al., 1996; Gardosi, 1997; Sepulveda et al., 1997; Souka and Nicolaides, 1997; Snijders et al., 1998).”
MethodSepúlveda, W., Wong, A. E., & Casasbuenas, A. (2008) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.6222 · Cited by 35
Additional First-Trimester Ultrasound Markers
Sonek, J., & Nicolaides, K. H. (2010) · Clinics in Laboratory Medicine · doi:10.1016/j.cll.2010.04.004 · Cited by 35
Reference values for ductus venosus Doppler flow measurements at 10–14 weeks of gestation
Prefumo, F., Risso, D., Venturini, P. L., & Biasio, P. D. (2002) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2002.00710.x · Cited by 35
Does nuchal translucency have a role in fetal cardiac screening?
Hyett, J. A. (2004) · Prenatal Diagnosis · doi:10.1002/pd.1070 · Cited by 35
“An increase in nuchal translucency thickness is associated with chromosomal abnormality, and precise assessment provides an effective means of screening for trisomy 21 (Snijders et al., 1998).”
Sánchez, J. M., Franzi, L., Collia, F., Díaz, S. L. D., Panal, M., & Dubner, M. (1999) · Prenatal Diagnosis · doi:10.1002/(sici)1097-0223(199907)19:7 · Cited by 91
Spencer, K. (2000) · Prenatal Diagnosis · doi:10.1002/1097-0223(200008)20:8 · Cited by 36
Maternal Thyroid Function at 11–13 Weeks of Gestation and Spontaneous Preterm Delivery
Ashoor, G., Maíz, N., Rotas, M., Jawdat, F., & Nicolaides, K. H. (2011) · Obstetrics and Gynecology · doi:10.1097/aog.0b013e318205152c · Cited by 33
Savvidou, M. D., Akolekar, R., Brawura-Biskupski-Samaha, R., Masconi, A., & Nicolaides, K. H. (2011) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.2011.02982.x · Cited by 34
Berg, C., Thomsen, Y., Geipel, A., Germer, U., & Gembruch, U. (2007) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.4098 · Cited by 34
Relationship between fetal nuchal translucency and crown–rump length in an Asian population
Jou, H., Wu, S. ‐., Li, T., Hsu, H. ‐., Tzeng, C. Y., & Hsieh, F. ‐. (2001) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2001.00332.x · Cited by 34
Spencer, K. (2002) · Prenatal Diagnosis · doi:10.1002/pd.312 · Cited by 34
“At this clinic visit the women have an ultrasound scan to determine gestational age and number of fetuses, and the fetal NT is measured using standard procedures (Snijders et al., 1998) by sonographers certified by the Fetal Medicine Foundation.”
MethodInfluentialFirst trimester prenatal diagnosis: Fetal cells in the maternal circulation
Pertl, B., & Bianchi, D. W. (1999) · Seminars in Perinatology · doi:10.1016/s0146-0005(99)80005-6 · Cited by 34
Measurement of fetal nuchal translucency thickness by three‐dimensional ultrasound
Paul, C., Krampl, E., Skentou, C., Jurkovic, D., & Nicolaides, K. H. (2001) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.0960-7692.2001.00547.x · Cited by 34
Maternal Serum α-Fetoprotein at 11–13 Weeks’ Gestation in Spontaneous Early Preterm Delivery
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Ectopia Cordis in a First-Trimester Sonographic Screening Program for Aneuploidy
Sepúlveda, W., Wong, A. E., Simonetti, L., Gomez, E., Víctor Dezerega, P., & Gutierrez, J. (2013) · Journal of Ultrasound in Medicine · doi:10.7863/jum.2013.32.5.865 · Cited by 33
Maternal Serum Vitamin D at 11–13 Weeks in Pregnancies Delivering Small for Gestational Age Neonates
Ertl, R., Yu, C.-S., Brawura-Biskupski-Samaha, R., Akolekar, R., & Nicolaides, K. H. (2012) · Fetal Diagnosis and Therapy · doi:10.1159/000333810 · Cited by 33
Screening for adverse pregnancy outcome at early gestational age
Hourrier, S., Salomon, L. J., Dreux, S., & MULLER, F. M. (2010) · Clinica Chimica Acta · doi:10.1016/j.cca.2010.06.024 · Cited by 33
Schielen, P. C. J. I., van Leeuwen‐Spruijt, M., Belmouden, I., Elvers, L. H., Jonker, M., & Loeber, J. G. (2006) · Prenatal Diagnosis · doi:10.1002/pd.1486 · Cited by 33
“The higher number of 21 affected pregnancies as described in this study may partly be explained by the fact that approximately 30% of Down syndrome pregnancies end in a miscarriage between the first trimester and term (Morris et al., 1999; Snijders et al., 1999).”
BackgroundGlenn, C. C., Deng, G. Y., Michaelis, R. C., Tarleton, J. C., Phelan, M. C., Surh, L. C., Yang, T. P., & Driscoll, D. J. (2000) · Prenatal Diagnosis · doi:10.1002/(sici)1097-0223(200004)20:4 · Cited by 70
First‐trimester fetal heart rate in mothers with opioid addiction
Schmid, M. P., Kuessel, L., Klein, K., Metz, V. E., Fischer, G., & Krampl‐Bettelheim, E. (2010) · Addiction · doi:10.1111/j.1360-0443.2010.02982.x · Cited by 32
Increased nuchal translucency in fetuses with a normal karyotype
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“Up to 80% of aneuploid fetuses have increased NT, but this feature is also found in 5% of karyotypically normal fetuses at this stage of pregnancy (Snijders et al., 1998).”
BackgroundSalomon, L. J., Bernard, J. P., & Ville, Y. G. (2005) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.2640 · Cited by 31
Kilpatrick, M. W., Tafas, T. P., Evans, M. I., Jackson, L. G., Antsaklis, A., Brambati, B., & Tsipouras, P. (2004) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2004.03.055 · Cited by 32
Changes in nuchal translucency thickness in normal and abnormal karyotype fetuses
Zoppi, M. A., Ibba, R. M., Floris, M., Manca, F., Axiana, C., & Monni, G. (2003) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1046/j.1471-0528.2003.02180.x · Cited by 32
Dagklis, T., Borenstein, M., Peralta, C. F. A., Faro, C. B. D. A., & Nicolaides, K. H. (2006) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.2841 · Cited by 31
ADAM12 as a marker of trisomy 18 in the first and second trimester of pregnancy
Spencer, K., & Cowans, N. J. (2007) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/14767050701483389 · Cited by 32
“Patient-specific risks were calculated by a multivariate approach using population parameters established in large scale retrospective studies and prospective studies [23,24] and the maternal age and gestational-related risk of trisomy 21 at the time of screening [25], or for trisomy13/18 [22].”
MethodChasen, S. T., McCullough, L. B., & Chervenak, F. A. (2004) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2003.09.067 · Cited by 32
Prefumo, F., Sairam, S., Bhide, A., & Thilaganathan, B. (2006) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2005.09.008 · Cited by 32
Antenatal screening for Down's syndrome
Alfirević, Ž., & Neilson, J. P. (2004) · BMJ · doi:10.1136/bmj.329.7470.811 · Cited by 32
A hierarchical model for automatic nuchal translucency detection from ultrasound images
Deng, Y., Wang, Y., Chen, P., & Yu, J. (2012) · Computers in Biology and Medicine · doi:10.1016/j.compbiomed.2012.04.002 · Cited by 31
Mangione, R., Lelong, N., Fontanges, M., Amat, S., Rosenblatt, J., Khoshnood, B., & Jouannic, J. (2011) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.10118 · Cited by 31
“Figure 2 Anatomical hallmarks to depict clearly intracranial translucency (IT) and the eight criteria used for IT image scoring: (1) thalamus; (2) midbrain; (3) brain stem; (4) posterior wall of the brain stem; (5) fourth ventricle; (6) choroid plexus of the fourth ventricle; and (7) spine.”
BackgroundAutomated Techniques for the Interpretation of Fetal Abnormalities: A Review
Rawat, V., Jain, A., & Shrimali, V. (2018) · Applied Bionics and Biomechanics · doi:10.1155/2018/6452050 · Cited by 32
“NT thickness in the 10–14 weeks of gestation has been evidenced to be one of the most perceptive parameters [62].”
BackgroundFetal abdominal cysts in the first trimester: prenatal detection and clinical significance
Sepúlveda, W., Dickens, K., Casasbuenas, A., Gutierrez, J., & Víctor Dezerega, P. (2008) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.6142 · Cited by 31
Beyond informed choice: prenatal risk assessment, decision-making and trust
Schwennesen, N., Svendsen, M., & Koch, L. (2008) · Clinical Ethics · doi:10.1258/ce.2010.010041 · Cited by 36
Relationship between nuchal translucency at 11–14 weeks and nuchal fold at 20–24 weeks of gestation
Salomon, L. J., Bernard, J. P., Taupin, P., Bénard, C., & Ville, Y. G. (2001) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.0960-7692.2001.00582.x · Cited by 31
Poon, L. C., Chelemen, T., Minekawa, R., Frisová, V., & Nicolaides, K. H. (2009) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2008.12.029 · Cited by 31
de Mooij, Y. M., van den Akker, N. M. S., Bekker, M. N., Bartelings, M. M., van Vugt, J. M. G., & Groot, A. C. G. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2666 · Cited by 31
“A developmental disorder associated with increased NT and an euploid karyotype is Noonan syndrome (Reynders et al., 1997; Bilardo et al., 1998; Souka et al., 1998; Achiron et al., 2000).”
BackgroundMothers’ knowledge of screening for trisomy 21 in 1999: a survey in Paris maternity units
Vigan, C. D., Vodovar, V., Goujard, J., Garel, M., Vayssière, C., & Goffinet, F. (2002) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/s0301-2115(01)00559-0 · Cited by 31
Weinans, M. J. N., Kooij, L., Müller, M. A., Bilardo, K. M., Lith, J. M. M. V., & Tymstra, T. (2004) · Prenatal Diagnosis · doi:10.1002/pd.872 · Cited by 31
“…shown that the results of first-trimester screening for Down syndrome on the basis of maternal serum markers or fetal nuchal translucency measurement in combination with maternal age are at least comparable to those of second-trimester serum screening (Haddow et al., 1998; Snijders et al., 1998).”
Christiansen, M., Larsen, S., Oxvig, C., Qin, Q., Wagner, J., Overgaard, M. T., Gleich, G., Sottrup‐Jensen, L., & Nørgaard‐Pedersen, B. (2003) · Clinical Genetics · doi:10.1111/j..2004.00177.x · Cited by 31
“3% (15) and in combination with PAPP-A and b-hCG to achieve detection rates (DRs) in excess of 90% for a FPR of 5% (16).”
BackgroundScreening for Down's Syndrome — Too Many Choices?
Mennuti, M. T., & Driscoll, D. A. (2003) · New England Journal of Medicine · doi:10.1056/nejme038135 · Cited by 31
Wang, Y., Luo, J., Zhu, M., Liu, L., & Ma, X. (2006) · International Journal of Gynecology & Obstetrics · doi:10.1016/j.ijgo.2006.04.030 · Cited by 30
Promises and pitfalls of first trimester sonographic markers in the detection of fetal aneuploidy
BORRELL, A. (2008) · Prenatal Diagnosis · doi:10.1002/pd.2182 · Cited by 30
“…tricuspid regurgitation (TR), and the frontomaxillary facial angle, with optimal detection rates ranging from 67% to 72% according to the Fetal Medicine Foundation reported data (Snijders et al., 1998; Cicero et al., 2004; Falcon et al., 2006; Sonek et al., 2007; Maiz et al., 2008a) (Table 1).”
Vogel, M., Sharland, G. K., McElhinney, D. B., Zidere, V., Simpson, J. M., Miller, O., & Allan, L. D. (2009) · Cardiology in the Young · doi:10.1017/s1047951109990655 · Cited by 30
“Chromosomal abnormalities are found in about one-third of latefirst or early-second trimester fetuses with increased nuchal translucency, with trisomy 21 or 18 discovered in about three-quarters of affected cases.(11) Congenital cardiac malformations have been reported in from one-eighth to half of fetuses with increa…”
BackgroundOutcome of first-trimester fetal abdominal cysts: Cohort study and review of the literature
Khalil, A., Cooke, P. C., Mantovani, E., Bhide, A., Papageorghiou, A. T., & Thilaganathan, B. (2014) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.12552 · Cited by 30
Association between different morphological types and abnormal karyotypes in early pregnancy loss
Angiolucci, M., Murru, R., Melis, G. B., Carcassi, C., & Mais, V. (2010) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.7681 · Cited by 30
Nuchal translucency in the first trimester of pregnancy: ten years on and still a pain in the neck?
Ville, Y. G. (2001) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2001.00483.x · Cited by 30
“Indeed these three markers which affect the risk of fetal aneuploidy eventually proved to be independent of each other, allowing for likelihood ratios to be multiplied to obtain multifactorial and individual risks at a given gestational age 8 .”
BackgroundMethodInfluentialMaternal serum–integrated screening for trisomy 18 using both first‐ and second‐trimester markers
Palomaki, G. E., Neveux, L. M., Knight, G. J., & Haddow, J. E. (2003) · Prenatal Diagnosis · doi:10.1002/pd.572 · Cited by 30
“…first-trimester screening markers for Down syndrome have been identified, including maternal serum pregnancy-associated plasma protein-A (PAPP-A) (Muller et al., 1993; Wald et al., 1995) and the ultrasound measurement of nuchal translucency (Nicolaides et al., 1992; Snijders et al., 1998).”
BackgroundIsolated single umbilical artery: need for specialist fetal echocardiography?
Defigueiredo, D., Dagklis, T., Zidere, V., Allan, L. D., & Nicolaides, K. H. (2010) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.7711 · Cited by 30
Congenital nephrotic syndrome presenting with increased nuchal translucency in the first trimester
Souka, A. P., Skentou, H., Geerts, L., Bower, S. J., & Nicolaides, K. H. (2002) · Prenatal Diagnosis · doi:10.1002/pd.121 · Cited by 30
Gjerris, A. C., Loft, A., Pinborg, A. B., Tabor, A., & Christiansen, M. (2008) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.6128 · Cited by 30
The efficacy of first-trimester PAPP-A and free βhCG levels for predicting adverse pregnancy outcome
Kavak, Z. N., Başgül, A., Elter, K., Uygur, M., & Gökaslan, H. (2006) · Journal of Perinatal Medicine · doi:10.1515/jpm.2006.026 · Cited by 30
Chung, B. L., Kim, H. J., & Lee, K. H. (2000) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2000.00052.x · Cited by 30
Leporrier, N., Herrou, M., Morello, R., & Leymarie, P. (2002) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1046/j.1471-0528.2003.01490.x · Cited by 31
Coyne, L., & Stockdale, C. K. (2017) · Cambridge University Press eBooks · doi:10.1017/9781316662571.036 · Cited by 29
The Distribution of Fetal Nuchal Translucency Thickness in Normal Korean Fetuses
Chung, J. H., Yang, J.-H., Song, M.-J., Cho, J.-Y., Lee, Y.-H., Park, S. Y., Moon, M.-J., Lim, H.-J., Choi, J.-S., Kim, J.-O., et al. (2004) · Journal of Korean Medical Science · doi:10.3346/jkms.2004.19.1.32 · Cited by 29
Maymon, R., Ushakov, F. B., Waisman, D. M., Cuckle, H., Tovbin, Y., & Herman, A. (2005) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.2619 · Cited by 29
Women's opinions on the offer and use of nuchal translucency screening for Down syndrome
Müller, M. A., Bleker, O. P., Bonsel, G. J., & Bilardo, C. M. (2006) · Prenatal Diagnosis · doi:10.1002/pd.1344 · Cited by 29
“Six thousand pregnant women were offered the possibility of NT screening from June 1999 until January 2001, performed according to internationally accepted guidelines (Snijders et al., 1998).”
Hepatic artery Doppler in trisomy 21 and euploid fetuses at 11–13 weeks
Zvanca, M. E., Gielchinsky, Y., Abdeljawad, F. J., Bilardo, C. M., & Nicolaides, K. H. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2664 · Cited by 29
“This was a prospective study in two groups of singleton pregnancies undergoing screening for aneuploidies between week 11 and 13 weeks and 6 days by a combination of maternal age, maternal serum free β-human chorionic gonadotrophin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A), ultrasonographic measuremen…”
BackgroundMethodVenkat-Raman, N., Sebire, N. J., Murphy, K. W., Carvalho, J. S., & Hall, C. M. (2005) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.1849 · Cited by 29
Prefrontal space ratio: comparison between trisomy 21 and euploid fetuses in the second trimester
Sonek, J., Molina, F. S., Hiett, A. K., Glover, M., McKenna, D. S., & Nicolaides, K. H. (2012) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.11120 · Cited by 29
Epidemiologic monitoring of prenatal screening for neural tube defects and Down syndrome
Knight, G. J., & Palomaki, G. E. (2003) · Clinics in Laboratory Medicine · doi:10.1016/s0272-2712(03)00023-4 · Cited by 29
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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