Resumo

ALVAREZ FUMERO, Roberto. Hereditary metabolic diseases and pregnancy. Rev Cubana Obstet Ginecol [online]. 2003, vol.29, n.2, pp. 0-0. ISSN 1561-3062.

The existing diagnostic possibilities and the effective treatment for some variants of hereditary metabolic diseases have favored the detection of a large adult female population carrying such diseases. There is an important relation between several hereditary metabolic diseases and the desire of getting pregnant that should be taken into account during prenatal and perinatal care. This article reviewed the hereditary metabolic diseases and their effects on the pregnancy and the outcome. It also underlined the possibility of prenatal echographic diagnosis of fetal malformations that gives rise to suspicion about the diagnosis in this period as well as the possible treatment of some of these diseases in the prenatal stage. The article draws attention to the serious complications that some hereditary metabolic diseases of the fetus may bring about during pregnancy and puerperium (HELLP syndrome). It was suggested that women with certain hereditary metabolic diseases like homocystinuria and phenylketonuria be advised of the increased risk of complications in pregnancy and of the intrauterine fetal damage caused by this disease. Special importance was given to phenylketonuria in which a restrictive dietary treatment before and during pregnancy can prevent the characteristic embryofetopathy of this entity.

Palavras-chave : HEREDITARY DISEASES [diagnosis]; HOMOCYSTINURIA [diagnosis]; PHENYLKETONURIA, MATERNAL [diagnosis]; PREGNANCY COMPLICATIONS; PERINATAL CARE; PRENATAL CARE.