Placental ultrasonographic biochemical and histochemical studies in human fetuses affected with Niemann-Pick disease type A.

Placental ultrasonographic, bio- and histochemical studies were performed on four unrelated fetuses affected with Niemann-Pick disease Type A, following prostaglandin-induced abortion at about the 19th week of gestation. An accumulation of sphingomyelin in the placentae of affected fetuses indicates the essential role of the enzyme sphingomyelinase, even during the early stages of gestation. A fair correlation between histochemical localization of sphingomyelin in the placentae and ultrasonographic findings was found, indicating the value of ultrasonic echo wave information in the diagnosis of metabolic disorders.