Relation between increased fetal nuchal translucency thickness and chromosomal defects
Abstract
OBJECTIVE: To examine the prevalence and distribution of all chromosomal defects in fetuses with increased nuchal translucency thickness. METHODS: Assessment of risk for trisomy 21 was carried out by a combination of maternal age and fetal nuchal translucency thickness at 11-13 + 6 weeks. A search of the database was made to identify, first, all singleton pregnancies in which fetal karyotyping was carried out and, second, the cases where the fetal nuchal translucency was equal to or above the 95th centile for fetal crown-rump length. The prevalence and distribution of chromosomal defects were determined for each nuchal translucency category: between the 95th centile for crown-rump length and 3.4 mm, 3.5-4.4 mm, 4.5-5.4 mm, 5.5-6.4 mm, 6.5-7.4 mm, 7.5-8.4 mm, 8.5-9.4 mm, 9.5-10.4 mm, 10.5-11.4 mm, and 11.5 mm or more. RESULTS: The search identified 11,315 pregnancies. The median maternal age was 34.5 (range 15-50) years, and the median fetal crown-rump length was 64 (range 45-84) mm. The fetal karyotype was abnormal in 2,168 (19.2%) pregnancies, and the incidence of chromosomal defects increased with nuchal translucency thickness from approximately 7% for those with nuchal translucency between the 95th centile for crown-rump length and 3.4 mm to 75% for nuchal translucency of 8.5 mm or more. In the majority of fetuses with trisomy 21, the nuchal translucency thickness was less then 4.5 mm, whereas in the majority of fetuses with trisomies 13 or 18 it was 4.5-8.4 mm, and in those with Turner syndrome it was 8.5 mm or more. CONCLUSION: In fetuses with increased nuchal translucency, approximately one half of the chromosomally abnormal group is affected by defects other than trisomy 21. The distribution of nuchal translucency is different for each type of chromosomal defect. LEVEL OF EVIDENCE: II-3.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The presence of a frank cystic hygroma increases the likelihood of diagnosing TS.
“However, the presence of a frank cystic hygroma increases the likelihood of diagnosing TS.46,51”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [46]
Cites
Snijders, R., Noble, P., Sebire, N., Souka, A., & Nicolaides, K. (1998) · The Lancet · doi:10.1016/s0140-6736(97)11280-6 · Cited by 1,572 · see citing works
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 · see citing works
Self-citationNuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities
Nicolaides, K. H. (2004) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2004.03.090 · Cited by 626 · see citing works
Self-citationHyett, J. A., Perdu, M., Sharland, G. K., Snijders, R. J. M., & Nicolaides, K. H. (1999) · BMJ · doi:10.1136/bmj.318.7176.81 · Cited by 605 · see citing works
Self-citationAbsence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational study
Cicero, S., Curcio, P., Papageorghiou, A. T., Sonek, J., & Nicolaides, K. H. (2001) · The Lancet · doi:10.1016/s0140-6736(01)06709-5 · Cited by 520 · see citing works
Self-citationIncreased nuchal translucency with normal karyotype
Souka, A. P., von Kaisenberg, C. S., Hyett, J. A., Sonek, J., & Nicolaides, K. H. (2005) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2004.12.093 · Cited by 514 · see citing works
Self-citationSouka, A. P., Snijders, R. J. M., Novakov, A., Soares, W. E., & Nicolaides, K. H. (1998) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.1998.11060391.x · Cited by 475 · see citing works
Self-citationMaternal age‐ and gestation‐specific risk for trisomy 21
Snijders, R. J. M., Sundberg, K., Holzgreve, W., Henry, G., & Nicolaides, K. H. (1999) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.1999.13030167.x · Cited by 366 · see citing works
Self-citationMaternal 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 · see citing works
Self-citationMegacystis at 10–14 weeks of gestation: Chromosomal defects and outcome according to bladder length
Liao, A. W., Sebire, N. J., Geerts, L., Cicero, S., & Nicolaides, K. H. (2003) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.81 · Cited by 193 · see citing works
Self-citationFetal megacystis at 10–14 weeks of gestation
Sebire, N. J., Kaisenberg, C. V., Rubio, C., Snijders, R. J. M., & Nicolaides, K. H. (1996) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.1997.08060387.x · Cited by 159 · see citing works
Self-citationEarly prenatal diagnosis of triploidy
Jauniaux, E. R. M., Brown, R. N., Snijders, R. J. M., et al. (1997) · American Journal of Obstetrics and Gynecology · doi:10.1016/s0002-9378(97)70546-5 · Cited by 114 · see citing works
Fetal Nuchal Translucency Thickness at 10-14 Weeks' Gestation and Congenital Diaphragmatic Hernia
Sebire, N. J. (1997) · Obstetrics and Gynecology · doi:10.1016/s0029-7844(97)89686-x · Cited by 110 · see citing works
Collagen type VI gene expression in the skin of trisomy 21 fetuses*1
VONKAISENBERG, C. (1998) · Obstetrics and Gynecology · doi:10.1016/s0029-7844(97)00697-2 · Cited by 100 · see citing works
von Kaisenberg, C. S., Krenn, V., Ludwig, M. Z., et al. (1998) · Anatomy and Embryology · doi:10.1007/s004290050123 · Cited by 96 · see citing works
Prenatal diagnosis of trisomy 18 at the 10–14‐week ultrasound scan
Sherod, C., Sebire, N. J., Soares, W. E., Snijders, R. J. M., & Nicolaides, K. H. (1997) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.1997.10060387.x · Cited by 94 · see citing works
Self-citationFetal heart rate in chromosomally abnormal fetuses
Liao, A. W., Snijders, R. J. M., Geerts, L., Spencer, K., & Nicolaides, K. H. (2000) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2000.00292.x · Cited by 91 · see citing works
Self-citationLymphatic vessel hypoplasia in fetuses with Turner syndrome
von Kaisenberg, C. S. (1999) · Human Reproduction · doi:10.1093/humrep/14.3.823 · Cited by 86 · see citing works
Single umbilical artery at 11–14 weeks' gestation: relation to chromosomal defects
Rembouskos, G., Cicero, S., Longo, D., Sacchini, C., & Nicolaides, K. H. (2003) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.901 · Cited by 80 · see citing works
Self-citationCrown-rump length in chromosomally abnormal fetuses at 10 to 13 weeks' gestation
Kühn, P., Brizot, M. D. L., Pandya, P., et al. (1995) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(95)90080-2 · Cited by 77 · see citing works
Thorpe‐Beeston, J. G., Gosden, C. M., & Nicolaides, K. H. (1989) · Fetal Diagnosis and Therapy · doi:10.1159/000263386 · Cited by 72 · see citing works
Self-citationFetal exomphalos and chromosomal defects: relationship to maternal age and gestation
Snijders, R. J. M., Sebire, N. J., Souka, A. P., Santiago, C., & Nicolaides, K. H. (1995) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.1995.06040250.x · Cited by 69 · see citing works
Self-citationKomaki, S., Matsuura, T., Oyanagi, K., Hoshide, R., Kiwaki, K., Endo, F., Shimadzu, M., & Matsuda, I. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970317)69:2 · Cited by 22 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
Prenatal Diagnosis of Turner Syndrome: Report on 69 Cases
Papp, C., Beke, A., Mezei, G., Szigeti, Z., Bán, Z., & Papp, Z. (2006) · Journal of Ultrasound in Medicine · doi:10.7863/jum.2006.25.6.711 · Cited by 74 · see citing works
- Authors
- Kagan, K. O., Avgidou, K., Molina, F. S., Gajewska, K., & Nicolaides, K. H.
- Affiliations
- King's College London (GB)
- Venue
- Obstetrics & Gynecology
- Published
- 2006-01
- Volume
- 107
- Issue
- 1
- Pages
- 6-10
- ISSN
- 0029-7844 (ISSN-L)
- OpenAlex
- W2087137823
- Cited by
- 171
- References
- 23
- Citations by year
- 2026: 5 · 2025: 8 · 2024: 7 · 2023: 8 · 2022: 17 · 2021: 8 · 2020: 6 · 2019: 12 · 2018: 8 · 2017: 7 · 2016: 10 · 2015: 14 · 2014: 8 · 2013: 11 · 2012: 7
- FWCI
- 7.78
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Obstetrics and Gynecology (publishedVersion)
- PubMed (publishedVersion)
- 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
- nuchal translucency, chromosomal abnormalities, Down syndrome, trisomy 13, trisomy 18, Turner syndrome, prenatal diagnosis, fetal karyotyping, maternal age, crown-rump length, first-trimester screening, fetal growth restriction, fetal malformations, fetal biophysical profile
- MeSH terms
- Adolescent, Adult, Chromosome Aberrations, Down Syndrome, Female, Genetic Counseling, Humans, Karyotyping, Maternal Age, Middle Aged, Pedigree, Pregnancy, Pregnancy Trimester, First, Probability, Retrospective Studies, Trisomy, Prevalence, Ultrasonography, Prenatal, Risk Assessment, Genetic Predisposition to Disease, Nuchal Translucency Measurement
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
