The DOI matches its Crossref record; 50 of the 50 references it cites were found in a registry or an index.
Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester
Open accessAbstract
Objectives: To study the outcome of chromosomally normal pregnancies with increased nuchal translucency at the 10–14‐week scan. Design: Retrospective study of 1320 chromosomally normal singleton pregnancies with nuchal translucency of ≥ 3.5 mm. In addition to fetal karyotyping these patients were managed with follow‐up scans at 14–16 and 20–22 weeks, specialist fetal echocardiography and in selected cases by infection screening and further genetic testing. Results: In the 1320 pregnancies there were 68 (5.15%) spontaneous abortions or intrauterine deaths, 18 (1.36%) neonatal and infant deaths and 154 (11.67%) terminations of pregnancy. In the 1080 (81.82%) survivors, 60 (5.56%) had abnormalities requiring medical or surgical treatment or leading to mental handicap. The chance of a livebirth with no defects in the group with nuchal translucency of 3.5–4.4 mm was 86%, for those with translucency of 4.5–5.4 mm it was 77%, for those with translucency of 5.5–6.4 mm it was 67%, and for those with translucency of ≥ 6.5 mm it was 31%. Conclusions: Increased fetal nuchal translucency is associated with chromosomal abnormalities, many fetal defects and genetic syndromes. In the majority of cases a series of antenatal investigations, including fetal karyotyping, detailed scans, fetal echocardiography, as well as genetic testing and infection screening, that can be completed by 20 weeks of gestation would distinguish between the pregnancies destined to result in adverse outcome and those leading to the delivery of infants without major defects. Copyright © 2001 International Society of Ultrasound in Obstetrics and Gynecology
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Self-citationHyett, J., Perdu, M., Sharland, G., Snijders, R., & Nicolaides, K. H. (1999) · BMJ · doi:10.1136/bmj.318.7176.81 · Cited by 611
Self-citationSouka, A. P., Snijders, R. J. M., Novakov, A., Soares, W., & Nicolaides, K. H. (1998) · Ultrasound in Obstetrics & Gynecology · doi:10.1046/j.1469-0705.1998.11060391.x · Cited by 479
Self-citationMendez, H. M. M., Opitz, J. M., & Reynolds, J. F. (1985) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320210312 · Cited by 477
The birth prevalence rates for the skeletal dysplasias.
Orioli, I. M., Castilla, E. E., & Barbosa-Neto, J. G. (1986) · Journal of Medical Genetics · doi:10.1136/jmg.23.4.328 · Cited by 399
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 & Gynecology · doi:10.1046/j.1469-0705.1995.05010015.x · Cited by 232
Self-citationOutcome of fetuses with enlarged nuchal translucency and normal karyotype
Bilardo, C. M., Pajkrt, E., de Graaf, I., Mol, B. W., & Bleker, O. P. (1998) · Ultrasound in Obstetrics & Gynecology · doi:10.1046/j.1469-0705.1998.11060401.x · Cited by 164
Fetal megacystis at 10–14 weeks of gestation
Sebire, N. J., Von Kaisenberg, C., Rubio, C., Snijders, R. J. M., & Nicolaides, K. H. (1996) · Ultrasound in Obstetrics & Gynecology · doi:10.1046/j.1469-0705.1997.08060387.x · Cited by 163
Self-citationMavrides, E., Cobian‐Sanchez, F., Tekay, A., Moscoso, G. J., Campbell, S. C., Thilaganathan, B., & Carvalho, J. S. (2001) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2001.00342.x · Cited by 152
Cited by
Nuchal 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
Self-citationRossi, A. C., & Prefumo, F. (2013) · Obstetrics & Gynecology · doi:10.1097/aog.0000000000000015 · Cited by 224
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
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes
Neri, S., Maia, N., Fortuna, A. M., Damasio, J., Coale, E., Willis, M., Jorge, P., Højte, A. F., Fenger, C. D., Møller, R. S., et al. (2022) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2022.104624 · Cited by 16
Metadata
- Authors
- Souka, A. P., Krampl, E., Bakalis, S., Heath, V., & Nicolaides, K. H.
- Venue
- Ultrasound in Obstetrics & Gynecology
- Publisher
- Wiley
- Published
- 2001-07
- Volume
- 18
- Issue
- 1
- Pages
- 9-17
- ISSN
- 0960-7692 (ISSN-L)
- 1469-0705
- OpenAlex
- W2137887594
- Cited by
- 369
- References
- 50
- FWCI
- 21.82
- Type
- journal article
- Language
- en
- Open access
- bronze
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