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Increased nuchal translucency in trisomy 13 fetuses at 10–14 weeks of gestation
Article first published online: 10 SEP 1999
DOI: 10.1002/(SICI)1096-8628(19990917)86:3<205::AID-AJMG2>3.0.CO;2-N
Copyright © 1999 Wiley-Liss, Inc.
1552-4833/asset/cover.gif?v=1&s=9818ec8c89d0772bf0e752b15694c460afb83f9f "American Journal of Medical Genetics")
Additional Information
How to Cite
Snijders, R. J.M., Sebire, N. J., Nayar, R., Souka, A. and Nicolaides, K. H. (1999), Increased nuchal translucency in trisomy 13 fetuses at 10–14 weeks of gestation. Am. J. Med. Genet., 86: 205–207. doi: 10.1002/(SICI)1096-8628(19990917)86:3<205::AID-AJMG2>3.0.CO;2-N
Publication History
- Issue published online: 10 SEP 1999
- Article first published online: 10 SEP 1999
- Manuscript Accepted: 21 OCT 1997
- Manuscript Received: 10 APR 1997
Funded by
- Fetal Medicine Foundation. Grant Number: 1037116
- Abstract
- References
- Cited By
Keywords:
- trisomy 13;
- prenatal diagnosis;
- first trimester;
- ultrasound;
- nuchal translucency
Abstract
In a multicenter screening study for trisomy 21 involving ultrasonographic measurement of fetal nuchal translucency thickness (NT) at 10–14 weeks of gestation, 100,311 singleton pregnancies with a live fetus were examined. There were 46 cases of trisomy 13, and in 33 (72%) of these, the NT was above the 95th centile. The estimated risk for trisomy 21, based on maternal age-related risk for this chromosomal abnormality and fetal NT, was above 1 in 300 in 37 (80.1%) of the trisomy 13 fetuses. The fetal crown-rump length was significantly reduced, but the fetal heart rate was increased, being above the 95th centile in 64% of cases. Additionally, 24% of trisomy 13 fetuses had holoprosencephaly and 10% had exomphalos. This study has demonstrated that at 10–14 weeks of gestation, about 80% of fetuses with trisomy 13 can be identified in a screening program for trisomy 21, based on a combination of maternal age and fetal NT. Am. J. Med. Genet. 86:205–207, 1999. © 1999 Wiley-Liss, Inc.