Resumen

MORALES DE MACHIN, Alisandra; MENDEZ, Karilé; BRACHO, Ana  y  CHACIN, José. Enfermedad de Gaucher Tipo I y embarazo: diagnóstico molecular. Rev Obstet Ginecol Venez [online]. 2014, vol.74, n.3, pp.210-216. ISSN 0048-7732.

We present a 33 year-old female. Gravida II, abortion I, with type I Gaucher disease diagnosed 28 years before, receiving treatment with enzyme replacement therapy during pregnancy. At 38 weeks gestation a female infant was delivered by cesarean section. In Genetic Research Institute of the Faculty of Medicine. University of Zulia. Maracaibo. 6 samples of desoxyribonucleic acid corresponding to affected, daughter and mother of affected, and 3 controls were analyzed. In this pacient there was no complications during pregnancy, there were no malformations at birth, post partum with anemia and thrombocytopenia. The assignment of genotypes allowing adequate genetic counseling.

Palabras clave : Gaucher disease; Pregnancy; Molecular diagnostic.

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