Abstract

PILOTO MOREJON, Manuel; SANABRIA CHOCONTA, María I.  and  MENENDEZ GARCIA, Reinaldo. Prenatal diagnosis and medical care of congenital malformations and other genetic diseases. Rev Cubana Obstet Ginecol [online]. 2001, vol.27, n.3, pp.233-240. ISSN 0138-600X.

A longitudinal, prospective and descriptive study of congenital malformations and genetic diseases was made in Pinar del Rio province in 1998. One-hundred and twenty eight pregnant women whose fetuses had been diagnosed with one or more congenital malformations or genetic diseases were studied. One hundred and eight of them asked for the termination of their pregnancies and the most frequent malformations were: cardiovascular (29,69%), neural tube defects (17,97%) and renal malformations (14,84%). It was observed that the Western region showed the highest rate of malformations detected per 1000 births (16,80), even higher than the provincial rate (11,82) and that the average gestational age at the moment of the prenatal diagnosis was 21.79 weeks (DE=3,99). The maternal complications reached 6,54% and 1,87% in the abortion-delivery and the puerperium respectively. In the 20 pregnant women who decided not to terminate their pregnancies, there were 25% of late fetal deaths; 10% of early neonatal deaths, 5% of late neonatal deaths and 55% of live infants at 1 year of age (n=11), although all of them presented with malformations and different levels of impact. The prenatal diagnosis was confirmed in 99,03%.

Keywords : PRENATAL DIAGNOSIS; ABNORMALITIES [diagnosis]; CHROMOSOME ABNORMALITIES [diagnosis]; FETAL MORTALITY; INFANT MORTALITY; ULTRASONOGRAPHY, PRENATAL; ABORTION, INDUCED; HEREDITARY DISEASES [diagnosis].

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