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

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