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

Patrick L. Wilson^, , Jean Ricci Goodman, Erica Cole, John J. Mulvihill, Ji-Yun Lee, Shibo Li and Andrew Wagner

Cite this paper:
Patrick L. Wilson, Jean Ricci Goodman, Erica Cole, John J. Mulvihill, Ji-Yun Lee, Shibo Li and 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

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.

Keywords:
Cornelia de Lange Syndrome prenatal quadruple screen trisomy 18 microarray Smith Lemli Opitz syndrome placenta

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References:

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