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Gillis, L.A., McCallum, J., Kaur, M., DeScipio, C., Yaeger, D., Mariani, A., Kline, A.D., Li, H.H., Devoto, M., Jackson, L.G., and Krantz I.D, “NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations,” American Journal of Human Genetics, 75 (4). 610-23. Oct.2004.

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Article

Low Unconguted Estriol Levels in the Maternal Quadruple-Marker Screen in a Fetus with Cornelia de Lange Syndrome and a Partial Deletion of the NIPBL Gene


American Journal of Biomedical Research. 2013, Vol. 1 No. 2, 25-27
DOI: 10.12691/ajbr-1-2-1
Copyright © 2013 Science and Education Publishing

Cite this paper:
Patrick L. Wilson, Jean Ricci Goodman, Erica Cole, John J. Mulvihill, Ji-Yun Lee, Shibo Li, Andrew Wagner. Low Unconguted Estriol Levels in the Maternal Quadruple-Marker Screen in a Fetus with Cornelia de Lange Syndrome and a Partial Deletion of the NIPBL Gene. American Journal of Biomedical Research. 2013; 1(2):25-27. doi: 10.12691/ajbr-1-2-1.

Correspondence to: Patrick L. Wilson, . Email:

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.

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