@article{ajbr2013121,
author={AUTHOR = {Wilson, Patrick L. and Goodman, Jean Ricci and Cole, Erica and Mulvihill, John J. and Lee, Ji-Yun and Li, Shibo and Wagner, Andrew},
title={Low Unconguted Estriol Levels in the Maternal Quadruple-Marker Screen in a Fetus with Cornelia de Lange Syndrome and a Partial Deletion of the <i>NIPBL</i> Gene},
journal={American Journal of Biomedical Research},
volume={1},
number={2},
pages={25--27},
year={2013},
url={http://pubs.sciepub.com/ajbr/1/2/1},
abstract={Prenatal diagnosis of Cornelia de Lange syndrome (CDLs) is difficult due to non-specific ultrasound and biochemical findings, normal karyotype, and negative family history. Previous studies suggest that low first and second trimester levels of pregnancy associated plasma protein-A are an indicator for this genetically heterogeneous condition, low levels of this protein can be non-specific. Here, we suggest the addition of estriol to the prenatal evaluation of CdLs. This steroid hormone, produced by the placenta from fetal 16-hydroxydehydroepiandrosterone, can serve as an indicator for fetal distress, placental dysfunction, and intrauterine growth retardation which is a feature of CdLs.},
doi={10.12691/ajbr-1-2-1}
publisher={Science and Education Publishing}
}