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  • Title: Prenatal diagnosis of metabolic diseases on chorionic villi obtained before the ninth week of pregnancy.
    Author: Minelli A, Piantanida M, Simoni G, Rossella F, Romitti L, Brambati B, Danesino C.
    Journal: Prenat Diagn; 1992 Nov; 12(11):959-63. PubMed ID: 1362984.
    Abstract:
    Nine pregnancies at risk for various metabolic disorders were monitored by prenatal diagnosis on chorionic villi obtained between the sixth and ninth weeks of pregnancy. A diagnosis of an affected fetus was made in five cases (Sandhoff, Tay-Sachs (2), Pompe's, GM1), while metachromatic leukodystrophy, GM1 (2), and Pompe's were excluded in four cases. It is concluded that chorionic villi are a reliable tissue for prenatal diagnosis of metabolic disorders also when obtained before the ninth week.
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