Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11–13 weeks
Article first published online: 5 JAN 2011
Copyright © 2011 John Wiley & Sons, Ltd.
Special Issue: 1st Trimester Screening and Diagnosis
Volume 31, Issue 1, pages 90–102, January 2011
How to Cite
Syngelaki, A., Chelemen, T., Dagklis, T., Allan, L. and Nicolaides, K. H. (2011), Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11–13 weeks. Prenat. Diagn., 31: 90–102. doi: 10.1002/pd.2642
- Issue published online: 5 JAN 2011
- Article first published online: 5 JAN 2011
- Manuscript Accepted: 7 SEP 2010
- Manuscript Revised: 6 SEP 2010
- Manuscript Received: 21 AUG 2010
- Fetal Medicine Foundation. Grant Number: 1037116
- first-trimester screening;
- fetal abnormalities;
- nuchal translucency;
- prenatal diagnosis
To examine the performance of the 11–13 weeks scan in detecting non-chromosomal abnormalities.
Prospective first-trimester screening study for aneuploidies, including basic examination of the fetal anatomy, in 45 191 pregnancies. Findings were compared to those at 20–23 weeks and postnatal examination.
Aneuploidies (n = 332) were excluded from the analysis. Fetal abnormalities were observed in 488 (1.1%) of the remaining 44 859 cases; 213 (43.6%) of these were detected at 11–13 weeks. The early scan detected all cases of acrania, alobar holoprosencephaly, exomphalos, gastroschisis, megacystis and body stalk anomaly, 77% of absent hand or foot, 50% of diaphragmatic hernia, 50% of lethal skeletal dysplasias, 60% of polydactyly, 34% of major cardiac defects, 5% of facial clefts and 14% of open spina bifida, but none of agenesis of the corpus callosum, cerebellar or vermian hypoplasia, echogenic lung lesions, bowel obstruction, most renal defects or talipes. Nuchal translucency (NT) was above the 95th percentile in 34% of fetuses with major cardiac defects.
At 11–13 weeks some abnormalities are always detectable, some can never be and others are potentially detectable depending on their association with increased NT, the phenotypic expression of the abnormality with gestation and the objectives set for such a scan. Copyright © 2011 John Wiley & Sons, Ltd.