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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
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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Items 701–800 of 1,001
First trimester screening for aneuploidy: Nuchal translucency sonography
Stewart, T. L., & Malone, F. D. (1999) · Seminars in Perinatology · doi:10.1016/s0146-0005(99)80003-2 · Cited by 16
Schmidt, P. M., Rom, J., Maul, H., Vaske, B., Hillemanns, P., & Scharf, A. (2007) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-007-0324-6 · Cited by 16
“Therewith AFS possesses a high significant better selectivity than classical FTS.”
BackgroundMethodResultInfluentialAssociation between increased nuchal translucency and second trimester cardiac echogenic foci*1
Prefumo, F. (2003) · Obstetrics and Gynecology · doi:10.1016/s0029-7844(02)03128-9 · Cited by 16
“Nuchal translucency thickness was measured in viable pregnancies with a crown–rump length between 38 and 84 mm, employing a standardized technique.(1) During the study period, most fetuses with intracardiac echogenic foci were referred for detailed echocardiography as part of our risk assessment for chromosomal abnorm…”
MethodO’Callaghan, S., Giles, W. B., Raymond, S. P., McDougall, V., Morris, K., & Boyd, J. (2000) · Australian and New Zealand Journal of Obstetrics and Gynaecology · doi:10.1111/j.1479-828x.2000.tb03337.x · Cited by 16
Antenatal screening for Down's syndrome
Monni, G., Ibba, B. M., & Zoppi, M. A. (1998) · The Lancet · doi:10.1016/s0140-6736(05)61084-7 · Cited by 16
Schmidt, P. M., STABOULIDOU, I., Soergel, P., Wüstemann, M., Hillemanns, P., & Scharf, A. (2007) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-006-0288-y · Cited by 15
“The NT-likelihood ratio was calculated on the base of the 1998 British multicenter study data [1].”
BackgroundMethodInfluentialJaudi, S., du Montcel, S. T., Fries, N., Nizard, J., Fontaines, V. H. D., & Dommergues, M. (2011) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.8941 · Cited by 15
El‐Sayed, G. M., Assiouty, L. E., & Elsobky, E. S. (2013) · SpringerPlus · doi:10.1186/2193-1801-2-490 · Cited by 15
“Abbreviations RAS: Rapid aneuploidy screening; MGS: Medical genetics center; DS: Down syndrome; USAID: U.S. agency for international development; MOHP: Ministry of health and population; FP: Family planning; RH: Reproductive health; MCH: Maternal and child health; ANC: Antenatal care; MDG: Millennium development Goal;…”
Petousis, S., Sotiriadis, A., Margioula‐Siarkou, C., Tsakiridis, I. G., Christidis, P., Kyriakakis, M., Mamopoulos, A. M., Athanasiadis, A. P., & Dagklis, T. (2019) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/14767058.2018.1555807 · Cited by 15
Model predicted Down syndrome detection rates for nuchal translucency screening in twin pregnancies
Maymon, R., Rosen, H., Baruchin, O., Herman, A., & Cuckle, H. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2669 · Cited by 15
“NT determination was carried out according to the published criteria of the Fetal Medicine Foundation (Snijders et al., 1998).”
MethodGebb, J. S., & Dar, P. (2009) · Prenatal Diagnosis · doi:10.1002/pd.2157 · Cited by 15
“Over the following two and a half decades, screening underwent major transformations with the elucidation of additional second-trimester biochemical markers, and most recently by the combination of ultrasonography with maternal serum markers in the first trimester (Snijders et al., 1998).”
BackgroundBekker, M. N. (2007) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.4071 · Cited by 15
“0 mm Clinical examination No 24–84 15 1/50 (2) Souka et al.”
BackgroundAlexioy, E., Alexioy, E., Trakakis, E., Kassanos, D. P., Farmakidis, G., Kondylios, A., Laggas, D., Salamalekis, E., Florentin, L., Kanavakis, E., et al. (2009) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/14767050902994572 · Cited by 15
Engels, M. A. J., Pajkrt, E., Groot, D. T., Schats, R., Twisk, J. W. R., & van Vugt, J. M. G. (2013) · Fetal Diagnosis and Therapy · doi:10.1159/000355527 · Cited by 15
Wong, A. E., Kuppermann, M., Creasman, J. M., Sepúlveda, W., & Vargas, J. (2011) · International Journal of Gynecology & Obstetrics · doi:10.1016/j.ijgo.2011.07.020 · Cited by 15
The science and art of quality in obstetric ultrasound
Salomon, L. J., & Ville, Y. G. (2009) · Current Opinion in Obstetrics & Gynecology · doi:10.1097/gco.0b013e3283294862 · Cited by 15
Holmes, A., & Jauniaux, E. R. M. (2004) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)60524-x · Cited by 15
“Nuchal translucency is an ultrasound-based test, which has been established as a more effective method of Down’s syndrome screening in singleton pregnancies than maternal age alone or than maternal age together with various maternal serum markers (Snijders et al., 1998).”
MethodReverse flow in the umbilical vein in a case of trisomy 9
Murta, C. G. V., Moron, A. F., de Ávila, M. A. P., França, L. C., & de Vargas, P. R. M. (2000) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2000.00280.x · Cited by 15
Pathophysiology of Increased Fetal Nuchal Translucency Thickness
Chen, C. (2010) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/s1028-4559(10)60029-0 · Cited by 15
“Increased fetal NT thickness refers to the measurement of the vertical thickness in the midsagittal section of the fetus that is equal to or above the 95th centile of the reference range [2].”
BackgroundPregnancy outcome of euploid fetuses with increased nuchal translucency: how bad is the news?
Maymon, R., Weinraub, Z., & Herman, A. (2005) · Journal of Perinatal Medicine · doi:10.1515/jpm.2005.036 · Cited by 15
Odibo, A. O., Elkousy, M., Ural, S., Driscoll, D. A., Mennuti, M. T., & Macones, G. A. (2003) · Twin Research · doi:10.1375/136905203322296566 · Cited by 15
Nuchal translucency and nasal bone for trisomy 21 screening: single center experience.
Monni, G., Zoppi, M. A., Ibba, R. M., Floris, M., Manca, F., & Axiana, C. (2005) · PubMed · Cited by 15
SONOGRAPHIC MARKERS OF FETAL ANEUPLOIDY
Nyberg, D. A., & Souter, V. L. (2000) · Clinics in Perinatology · doi:10.1016/s0095-5108(05)70052-x · Cited by 15
Souka, A. P., Bower, S. J., Geerts, L., Huggon, I. C., & Nicolaides, K. H. (2002) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2002.00753.x · Cited by 15
Uterine artery Doppler at 11–14 weeks of gestation in chromosomally abnormal fetuses
Bindra, R. R., Curcio, P., Cicero, S., Martin, A., & Nicolaides, K. H. (2001) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.0960-7692.2001.00585.x · Cited by 15
Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis
BENN, P. A. (2015) · Wiley eBooks · doi:10.1002/9781118981559.ch4 · Cited by 16
Integrated Screening for Down's Syndrome
Jenkins, T. M., & Wapner, R. J. (1999) · New England Journal of Medicine · doi:10.1056/nejm199912163412513 · Cited by 15
Nuchal Translucency Thresholds in Prenatal Screening for Down Syndrome and Trisomy 18
Miron, P., Côté, Y. P., & Lambert, J. (2009) · Journal of Obstetrics and Gynaecology Canada · doi:10.1016/s1701-2163(16)34121-4 · Cited by 14
Effect of image settings on nuchal translucency thickness measurement by a semi‐automated system
Chen, P. W., Chen, M., Leung, T. Y., & Lau, T. K. (2011) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.9088 · Cited by 14
Normal Range of Maternal Serum Vitamin D at 11–13 Weeks’ Gestation
Yu, C.-S., Ertl, R., Brawura-Biskupski-Samaha, R., Akolekar, R., & Nicolaides, K. H. (2011) · Fetal Diagnosis and Therapy · doi:10.1159/000324340 · Cited by 15
Chalouhi, G. E., Salomon, L. J., Fontanges, M., Althuser, M., Haddad, G., Scemama, O., Chabot, J.-M., Duyme, M., & Fries, N. (2013) · Journal of Ultrasound in Medicine · doi:10.7863/ultra.32.9.1601 · Cited by 14
Lykke, C. C., Ekholm, O., Schmiegelow, K., Olsen, M., & Sjøgren, P. (2018) · Acta Paediatrica · doi:10.1111/apa.14331 · Cited by 14
“In 2000, a new screening method was launched internationally, which provided the first-trimester risk assessment for Down syndrome and other serious chromosomal abnormalities, (9).”
MethodArora, V., Puri, R. D., Bhai, P. S., Sharma, N., Bijarnia‐Mahay, S., Dimri, N., Baijal, A., Saxena, R., & Verma, I. C. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61030 · Cited by 14
“We suggest that the criteria for further studies for an increased NT be set at greater than >95th centile for that CRL, rather than a fixed value, using charts by Snijders et al. (1998).”
MethodIncreased nuchal traslucency in normal karyotype fetuses.
Domenico, R. D., Faraci, M., Hyseni, E., Prima, F. A. F. D., Valenti, O., Monte, S., Giorgio, E., & Renda, E. (2011) · PubMed Central · Cited by 13
Prats, P., Ferrer, Q., Comas, C., & Rodríguez, I. (2012) · Fetal Diagnosis and Therapy · doi:10.1159/000335489 · Cited by 14
Ball, S., Wright, D. E., Barmpas, D. B. S., Lachmann, R., & Nicolaides, K. H. (2012) · Fetal Diagnosis and Therapy · doi:10.1159/000336252 · Cited by 14
Increased nuchal translucency and pregnancy outcome.
Tahmasebpour, A., Rafiee, N. B., Ghaffari, S. R., & Jamal, A. (2012) · Europe PMC (PubMed Central) · Cited by 14
Einiö, E. K., Goisis, A., & Myrskylä, M. (2019) · SSM - Population Health · doi:10.1016/j.ssmph.2019.100458 · Cited by 14
A model for disclosing the first trimester part of an integrated Down's syndrome screening test
Maymon, R., Betser, M., Dreazen, E., Padoa, A., & Herman, A. (2004) · Clinical Genetics · doi:10.1111/j.0009-9163.2004.00209.x · Cited by 14
The effects of maternal and fetal parameters on the quality of nuchal translucency measurement
Zohav, E., Dunsky, A., Segal, O., Peled, R., Herman, A., & Segal, S. (2001) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.0960-7692.2001.00598.x · Cited by 14
Delta‐NT and center‐specific ultrasound nuchal translucency medians
Santiago, J. C. H., & Ramos‐Corpas, D. (2007) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.5171 · Cited by 14
Tercanli, S., Uyanık, G., Hösli, I., Çağdaş, A., & Holzgreve, W. (2000) · Fetal Diagnosis and Therapy · doi:10.1159/000021029 · Cited by 14
Chorionic Villus Sampling at 11 to 13 Weeks of Gestation and Hypertensive Disorders in Pregnancy
Khalil, A. A., Akolekar, R., Pandya, P. P., Syngelaki, A., & Nicolaides, K. H. (2010) · Obstetrics and Gynecology · doi:10.1097/aog.0b013e3181e7ce75 · Cited by 14
The use of first trimester ultrasound in routine practice
Şen, C. (2001) · Journal of Perinatal Medicine · doi:10.1515/jpm.2001.030 · Cited by 14
Gheorman, L., Iliescu, D. G., Ceauşu, I., Paulescu, D., Pleşea, I. E., & Gheorman, V. (2011) · PubMed · Cited by 14
Prenatal Sonographic Features of Fetuses in Trisomy 13 Pregnancies (IV)
Chen, C. (2010) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/s1028-4559(10)60002-2 · Cited by 14
Evaluation of Down Syndrome Screening Strategies
Wenstrom, K. D. (2005) · Seminars in Perinatology · doi:10.1053/j.semperi.2005.05.014 · Cited by 14
Spencer, K., Talbot, J. A., & Abushoufa, R. A. (2002) · Prenatal Diagnosis · doi:10.1002/pd.351 · Cited by 14
Quality of first-trimester measurement of crown-rump length
Dhombres, F., Khoshnood, B., Bessis, R., Fries, N., Sénat, M., & Jouannic, J. (2014) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2014.06.012 · Cited by 13
Trisomy 21 screening based on first and second trimester in a Taiwanese population
Lan, R.-Y., Chou, C., Wang, P., Chen, R., & Hsiao, C. (2018) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/j.tjog.2018.06.014 · Cited by 13
First-Trimester Screening for Gestational Diabetes Mellitus in Twin Pregnancies
Buerger, O., Elger, T., Varthaliti, A., Syngelaki, A., Wright, A., & Nicolaides, K. H. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10173814 · Cited by 13
“At this visit, which is held at 11 + 0 to 13 + 6 weeks’ gestation, we record maternal characteristics and medical history and perform an ultrasound scan for: first, determination of gestational age from the measurement of CRL [19]; second, diagnosis of major fetal abnormalities [20]; and third, measurement of fetal nu…”
MethodDistribution of Normal Nuchal Translucency Thickness: A Multicenter Study in Thailand
Kor‐anantakul, O., Suntharasaj, T., Suwanrath, C., Chanprapaph, P., Sirichotiyakul, S., Ratanasiri, T., Vuthiwong, C., & Geater, A. F. (2010) · Gynecologic and Obstetric Investigation · doi:10.1159/000320754 · Cited by 13
Translucencia nucal y ductus venoso: valores de referencia en el primer trimestre de la gestación
BORRELL, A., Quintó, L., Fortuny, A., Borobio, V., Mercade, I., Goncé, A., & Vanrell, J. A. (2006) · Progresos de Obstetricia y Ginecología · doi:10.1016/s0304-5013(06)72632-2 · Cited by 13
Maternal thyroid function at 11–13 weeks of gestation in fetal trisomies 21 and 18
Ashoor, G., Maíz, N., Cuckle, H., Jawdat, F., & Nicolaides, K. H. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2659 · Cited by 13
“We also measure maternal serum free β-hCG and pregnancy-associated plasma protein-A (PAPP-A) (DELFIA XPRESS analyzer, PerkinElmer, Waltham, MA, USA) as part of the screening for chromosomal abnormalities by a combination of fetal NT and serum biochemistry (Snijders et al., 1998; Kagan et al., 2008b).”
Methodde Mooij, Y. M., Bartelings, M. M., Twisk, J. W. R., Lamberts, R. R., Groot, A. C. G., van Vugt, J. M. G., & Bekker, M. N. (2010) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2010.01.054 · Cited by 13
Conserva, V., Signaroldi, M., Mastroianni, C., Stampalija, T., Ghisoni, L., & Ferrazzi, E. M. (2010) · Prenatal Diagnosis · doi:10.1002/pd.2579 · Cited by 13
“NT had been measured according to the FMF guidelines (Snijders et al., 1998), while Bi-Tech Ltd. performed the analysis of serum metabolites and calculated the combined risk.”
MethodMaternal Serum Human Placental Growth Hormone (hPGH) at 11 to 13 Weeks of Gestation in Preeclampsia
Sifakis, S., Akolekar, R., Mantas, N., Kappou, D., & Nicolaides, K. H. (2010) · Hypertension in Pregnancy · doi:10.3109/10641955.2010.486461 · Cited by 13
Metabolic characterization of amniotic fluids of fetuses with enlarged nuchal translucency
Iuculano, A., Murgia, F., Peddes, C., Santoru, M. L., Tronci, L., Deiana, M., Balsamo, A., Euser, A. G., Atzori, L., & Monni, G. (2019) · Journal of Perinatal Medicine · doi:10.1515/jpm-2018-0314 · Cited by 13
Nuchal Translucency-Based Screening
Welch, K. K., & Malone, F. D. (2003) · Clinical Obstetrics & Gynecology · doi:10.1097/00003081-200312000-00023 · Cited by 13
Further Evidence of No Association between Spinal Muscular Atrophy and Increased Nuchal Translucency
Barone, C., & Bianca, S. (2012) · Fetal Diagnosis and Therapy · doi:10.1159/000343252 · Cited by 13
Use of the Kleihauer test to detect fetal erythroblasts in the maternal circulation
Martel‐Petit, V., Petit, C., Marchand, M., Fleurentin, A., Fontaine, B., Miton, A., Lemarie, P., Philippe, C., & Jonveaux, P. (2001) · Prenatal Diagnosis · doi:10.1002/1097-0223(200102)21:2 · Cited by 10
Leipold, H., Worda, C., Özbal, A., Husslein, P. W., & Krampl, E. (2005) · Journal of the Society for Gynecologic Investigation · doi:10.1016/j.jsgi.2005.05.003 · Cited by 13
“criteria were invited to participate in the study: (1) no maternal chronic or infectious diseases, (2) no multiple pregnancies, and (3) no pre-existing diabetes mellitus.”
BackgroundGestational age at abortion: The impact of first-trimester risk assessment for aneuploidy
Chasen, S. T., Kalish, R. B., & Chervenak, F. A. (2006) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2006.06.038 · Cited by 13
Maymon, R., Dreazen, E., Bukovsky, I., Weinraub, Z., & Herman, A. (2001) · Prenatal Diagnosis · doi:10.1002/pd.61 · Cited by 13
“The present study confirms previous reports indicating that among fetuses with enlarged NT, the most common abnormality is DS (Taipale et al., 1997; Snijders et al., 1998) contributing to 27% of the cases with known karyotype in the present report.”
BackgroundResultLimb Constriction as a Complication of Intra-Uterine Vesico-Amniotic Shunt: Fetoscopic Release
Chan, F.-Y., Borzi, P., Cincotta, R., Burke, J. R., & Tudehope, D. (2002) · Fetal Diagnosis and Therapy · doi:10.1159/000063187 · Cited by 13
Umbilical cord diameter at 11–14 weeks of gestation: relation to chromosomal defects
Rembouskos, G., Cicero, S., Papadopoulos, V., Tripsanas, C., & Nicolaides, K. H. (2004) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.969 · Cited by 13
Ultrasound findings and detection of fetal abnormalities before 11 weeks of gestation
Brown, I., Rolnik, D. L., Fernando, S., Menezes, M. A., Ramkrishna, J., Costa, F. D. S., & Meagher, S. E. (2021) · Prenatal Diagnosis · doi:10.1002/pd.6055 · Cited by 12
Routine 36‐week scan: prediction of small‐for‐gestational‐age neonate
Adjahou, S., Syngelaki, A., Nanda, M., Papavasileiou, D., Akolekar, R., & Nicolaides, K. H. (2024) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.29134 · Cited by 12
Sifakis, S., Akolekar, R., Kappou, D., Mantas, N., & Nicolaides, K. H. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2682 · Cited by 12
Peuhkurinen, S., Laitinen, P. H., Honkasalo, T., Ryynänen, M., & Marttala, J. (2013) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1111/aogs.12095 · Cited by 12
Estimating Fetal Nuchal Translucency Parameters from its Ultrasound Image
Deng, Y., Wang, Y., & Chen, P. (2008) · International Conference on Bioinformatics and Biomedical Engineering · doi:10.1109/icbbe.2008.994 · Cited by 12
Özcan, H. Ç., Uğur, M. G., Balat, Ö., Sucu, S., Tepe, N. B., Öztürk, E., Karuserci, Ö. K., & Kazaz, T. G. (2017) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/14767058.2017.1418315 · Cited by 12
“Fetal aneuploidy is highly associated with abnormal fetal nuchal translucency between 10 and 14 weeks of gestation [9,10].”
BackgroundCommittee Opinion No. 418: The Complete 11–14 Week Prenatal Sonographic Examination
Simula, N. K., Brown, R., Butt, K., Morency, A., Demers, S., Grigoriu, A., & Nevo, O. (2021) · Journal of Obstetrics and Gynaecology Canada · doi:10.1016/j.jogc.2021.05.004 · Cited by 12
Zhang, H., Wang, S., Feng, C., Zhao, H., Zhang, W., Sun, Y., & Yang, H. (2023) · Frontiers in Medicine · doi:10.3389/fmed.2023.1158554 · Cited by 12
“0 mm (9), and the 95th percentile (10).”
BackgroundNuchal translucency measurement: are qualitative and quantitative quality control processes related?
Hermann, M., Fries, N., Mangione, R., Boukobza, P., Ville, Y. G., & Salomon, L. J. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4121 · Cited by 12
Is fetal cardiac function gender dependent?
Clur, S. B., Rengerink, K. O., Mol, B. W., Ottenkamp, J. J., & Bilardo, C. M. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2738 · Cited by 12
“…with an increased risk of chromosomal and structural anomalies, especially cardiac defects and genetic syndromes (Bilardo et al., 1998, 2007; Snijders et al., 1998; Souka et al., 1998; Hyett et al., 1999; Ghi et al., 2001; Galindo et al., 2003; Makrydimas et al., 2003; Atzei et al., 2005;…”
BackgroundImplementation of a National Nuchal Translucency Education and Quality Monitoring Program
D’Alton, M. E., Fuchs, K. M., Abuhammad, A., Benacerraf, B. R., Berkowitz, R. L., Cuckle, H., Depp, R., Goldberg, J., O’Keeffe, D. F., Platt, L. D., et al. (2013) · Obstetrics and Gynecology · doi:10.1097/aog.0000000000000058 · Cited by 12
Fostering the Understanding of Positive Test Results
Pighin, S., Tentori, K., Savadori, L., & Girotto, V. (2018) · Annals of Behavioral Medicine · doi:10.1093/abm/kax065 · Cited by 12
Akolekar, R., Penco, J. M. P., Skyfta, E., Calvo, J. R., & Nicolaides, K. H. (2010) · Fetal Diagnosis and Therapy · doi:10.1159/000294340 · Cited by 12
Impact of nuchal cord on measurement of fetal nuchal translucency thickness
Scheier, M., Egle, D., Himmel, I., Ramoni, A., Viertl, S., Huter, O., & Marth, C. (2007) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.4064 · Cited by 12
Wøjdemann, K. R., Larsen, S. O., Rode, L., Shalmi, A. C., Sundberg, K., Christiansen, M., & Tabor, A. (2006) · Scandinavian Journal of Clinical and Laboratory Investigation · doi:10.1080/00365510500406902 · Cited by 12
“This may explain why the distribution of NT values has a lower standard deviation compared to the distribution published by the Fetal Medicine Foundation, London [20] and that the biochemical parameters have the same distributions as seen in other studies [21].”
ResultMaternal Plasma P-selectin at 11 to 13 Weeks of Gestation in Hypertensive Disorders of Pregnancy
Akolekar, R., Veduță, A., Minekawa, R., Chelemen, T., & Nicolaides, K. H. (2010) · Hypertension in Pregnancy · doi:10.3109/10641950903242683 · Cited by 12
“In addition, the maternal serum PAPP-A and free ß-hCG are determined and the results are combined with the fetal NT to calculate the patient-specific risk for trisomy 21 (30,31).”
MethodImpact of tissue harmonic imaging on measurement of nuchal translucency thickness
Pasquini, L., Tondi, F., Rizzello, F., Pontello, V., Paoletti, E., & Fontanarosa, M. (2010) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.7615 · Cited by 12
Nirmala, S., & Palanisamy, V. (2009) · International Conference on Control and Automation · Cited by 12
Maymon, R., Padoa, A., Dreazen, E., & Herman, A. (2002) · Prenatal Diagnosis · doi:10.1002/pd.399 · Cited by 12
“Demographic data and ultrasound findings including the number of fetuses and their CRLs, NTs and any obvious malformations had been recorded at the time of scanning into a computer database (Pandya et al., 1995; Snijders et al., 1998).”
BackgroundMethodInfluentialAshoor, G., Rotas, M., Maíz, N., Kametas, N. A., & Nicolaides, K. H. (2010) · Fetal Diagnosis and Therapy · doi:10.1159/000314906 · Cited by 12
“These results may essentially indicate that levothyroxine treatment is successful only when there is normalization of FT 3 .The aim of this study in pregnant women with hypothyroidism treated by levothyroxine is to examine the interrelations between FT 3 , FT 4 and TSH and examine whether in such patients the treatmen…”
MethodScreening for fetal abnormalities with ultrasound
Flood, K., & Malone, F. D. (2008) · Current Opinion in Obstetrics & Gynecology · doi:10.1097/gco.0b013e3282f73253 · Cited by 12
Invasive Procedures in Multifetal Pregnancies
Rochon, M. L., Eddleman, K. A., & Stone, J. L. (2005) · Clinics in Perinatology · doi:10.1016/j.clp.2005.02.002 · Cited by 12
Three-dimensional ultrasonography in early pregnancy
Shih, J., Jaffe, R. B., & Hsieh, F. (2001) · Seminars in Perinatology · doi:10.1053/sper.2001.22894 · Cited by 12
Alphonse, J., Cox, J., Clarke, J., Schlüter, P. J., & McLennan, A. (2010) · Fetal Diagnosis and Therapy · doi:10.1159/000313638 · Cited by 11
“], coordinated screening programs combining maternal age and nuchal translucency (NT) achieved a detection rate of approximately 80p [ ,”
BackgroundLee, S. J., Koo, J., Lee, H. W., Lee, S. E., Yang, H.-J., Yoon, S. S., Park, J., & Kim, Y. K. (2014) · Electronic Materials Letters · doi:10.1007/s13391-014-4132-4 · Cited by 11
Calabrese, G., Fantasia, D., Alfonsi, M., Morizio, E., Celentano, C., Franchi, P. G., Sabbatinelli, G., Palka, C., BENN, P. A., & Sitar, G. (2016) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.249 · Cited by 11
“…was to screen for trisomy 18 and trisomy 21, and triploidy which represent 61% of prenatal cytogenetic abnormalities identifiable by conventional karyotyping of invasive test samples and are the main target for current noninvasive prenatal testing (NIPT) (Snijders et al. 1998; Grati et al. 2010).”
BackgroundFirst Trimester Ultrasound Assessment for Fetal Aneuploidy
Hyett, J. A., Mogra, R., & Sonek, J. (2014) · Clinical Obstetrics & Gynecology · doi:10.1097/grf.0000000000000013 · Cited by 11
“Guidelines for NT measurement state that the fetus should be 11 to 13 weeks’ gestation (corresponding to a crown rump length measurement of 45 to 84mm), should be assessed in midsagittal section imaging the fetus at high magnification so that the head and thorax of the fetus occupy at least 75% of the image, that the…”
BackgroundCruz, J. D. J., Cruz, G., Minekawa, R., Maíz, N., & Nicolaides, K. H. (2010) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.7688 · Cited by 11
Salomon, L. J., Porcher, R., Stirnemann, J., Bernard, J. P., & Ville, Y. G. (2010) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.8811 · Cited by 11
Schmidt, P. M., Hörmansdörfer, C., Golatta, M., & Scharf, A. (2009) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-009-1137-6 · Cited by 11
The Genoa experience of prenatal diagnosis in NF1
Origone, P., Bonioli, E., Panucci, E., Costabel, S., Ajmar, F., & Coviello, D. A. (2000) · Prenatal Diagnosis · doi:10.1002/1097-0223(200009)20:9 · Cited by 23
Down syndrome health care protocol - IMREA/HCFMUSP
Tempski, P. Z., Miayhara, K. L., de Almeida, M. D., de Oliveira, R. B., Oyakawa, A., & Battistella, L. R. (2011) · Acta Fisiátrica · doi:10.5935/0104-7795.20110003 · Cited by 11
Sarmiento, A., Casasbuenas, A., Rodriguez, N., Angarita, A. M., Sarmiento, P., & Sepúlveda, W. (2012) · Prenatal Diagnosis · doi:10.1002/pd.3997 · Cited by 11
Nyberg, D. A., Hyett, J. A., Johnson, J.-A. M., & Souter, V. L. (2006) · Radiologic Clinics of North America · doi:10.1016/j.rcl.2006.10.017 · Cited by 11
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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