Clinical epidemiological characterization of folate-sensitive congenital defects in Villa Clara

Abstract

Introduction: folate-sensitive birth defects are those in which a diminution in its frequency has been proved after a preconceptional supplementation with folic acid.

Objective: to characterize the folate-senditive birth defects from a perspective clinical and epidemiological.

Methods: an observational, descriptive, transversal study was performed in Villa Clara province in the period between 2013 and 2018. The 267 cases with some of the following non syndromic folate-sensitive birth defects, were included: conotruncal congenital heart desease, neural tube defects, orofacial clefts, gastroschisis and Down síndrome. The prevalence rates among live births and stillbirths, and the frequency of elective termination of pregnancies among differents clinical phenotypes were determined.

Results: malalignment-type of septal defects and tetralogy of Fallot were the most frequent clinical phenotypes among cases with conotruncal congenital heart defects, spina bifida and cleft lip with cleft palate were the most conmmon clinical phenotypes among cases with neural tube defects and orofacial clefts, like simple gastroschisis and Down syndrome without congenital heart defects.

Conclusions: folate-sensitive birth defects have a great variable expresiveness with a wide gradation in their clinical severity from less severe phenotype to others with great severity and mortality.