Introduction:

congenital defects are a global problem, annually affecting 7.9 million newborns. They constitute the leading cause of death in developed countries and the second one in developing countries like Cuba.

Objective:

to determine the prevalence of folate-sensitive birth defects among live births, stillbirths and elective pregnancy terminations.

Methods:

a descriptive and cross-sectional study was carried out in Villa Clara province, where all cases with folate-sensitive birth defects diagnosed between 2013 and 2018 were included.

Results:

conotruncal congenital heart diseases, Down syndrome and neural tube defects were the most prevalent clinical phenotypes. The adjusted prevalence rate was 5.79 per 1,000 births. A higher prevalence rate was found among stillbirths and 43.26% of pregnancies with prenatally diagnosed defects were terminated. The highest rates of adjusted prevalence of cleft lip and palate and heart diseases were identified in Corralillo and Quemado de Güines municipalities, while Placetas had the highest rates of neural tube defects and Down syndrome, as well as Manicaragua those of gastroschisis.

Conclusions:

the higher frequency of congenital defects among stillbirths may be related to a highly variable expressivity of the studied defects, where serious clinical phenotypes are included. Different environmental risk factors acting on a genotype that predisposes these congenital defects are involved in the different municipalities with high prevalence rates of these defects.