Pregnancy-associated plasma protein A: A possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome

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Abstract
Concentration of human placental lactogen (hPL), pregnancy specific .beta.-1 glycoprotein (SP-1) and pregnancy-associated plasma protein A (PAPP-A) were analyzed in consecutive serum samples from a patient who gave birth to a child with Cornelia de Lange syndrome. PPL and SP-1 were present in normal concentrations from wk 20-35 of gestation; PAPP-A could not be detected in any of the samples examined. Immunohistochemical examination of 2 placentae from Cornelia de Lange syndrome revealed normal localization of hPL and SP-1 but the absence of PAPP-A from the syncytiotrophoblast. The significance of association between Cornelia de Lange syndrome and compromised synthesis of PAPP-A is discussed.