Álvarez GY, Souchay DL, Pérez PD, Pérez GO

Language: Spanish
References: 11
Page: 1-12
PDF size: 175.65 Kb.

ABSTRACT

Introduction: In our country, control of preconceptional genetic risk lacks sufficient attention to the follow-up and control of the male contribution to the conception of pregnancy. In the year 2017 congenital defects were the leading cause of infant mortality in the province of Artemisa.
Objective: Identify the genetic antecedents of fathers of fetuses diagnosed with congenital defects.
Methods: A descriptive cross-sectional study was conducted of a universe of 80 couples from the province of Artemisa whose offspring were diagnosed with congenital defects in the year 2017. Of the 80 couples, only 54 met the inclusion criteria established for the study.
Results: Among the 54 fathers surveyed, 16 had genetic antecedents, and 9 had congenital defects not identified until the conduct of the present research. 66.66% had neural tube closure defects, mainly spina bifida occulta, and 22.22% had renal defects. The presence of these conditions among fathers and not among mothers served as risk predictors when identified during the preconceptional stage. Otherwise, the options of preventive actions offered to the couple were limited.
Discussion: Most of the cases studied had a previous diagnosis of congenital anomaly by ultrasonography in the different quarters of pregnancy. The diagnostic certainty of ultrasonography depends on several factors, among them the training and experience of the sonographer, the quality of the equipment used and its technical status, and the gestational age of the woman. Studies consulted aimed at trying to identify the various causes of congenital malformations in humans conclude that in 60%-70% of the cases a definite cause is not known.

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