Prenatal Ultrasound Diagnosis at the Genetics Center of Marianao Municipality, Havana

Abstract

Introduction: Prenatal ultrasound in the Genetic Disease Prevention Program allows early detection of congenital malformations and improves the quality of life of the mother and her family.

Objective: To know the frequency of congenital malformations diagnosed at the Genetics Center of Marianao Municipality, Havana, Cuba, and to compare it with national and international statistics.

Methods: Retrospective, descriptive and observational study. A total of 203 malformations diagnosed between 2007 and 2017 at the Genetics Center of Marianao were quantified. Maternal age, gestational age at diagnosis, frequency by years and types of malformations by systems were considered as variables.

Results: In 13,307 births, 203 malformed fetuses were diagnosed (1.52 %), at a mean gestational age of 20.15 weeks. The most frequent malformations were neurological (27.1 %) and cardiovascular (16.2 %). Cardiovascular (27.3 %) and digestive (16.2 %) malformations predominated in adolescent mothers, while chromosomal malformations predominated in older mothers (57.1 %). Before the seventeenth week, digestive (41.7 %) and neurological (40 %) malformations were diagnosed; between the eighteenth and twenty-first weeks, skeletal (41.2 %) malformations were diagnosed; between the twenty-second and twenty-sixth weeks, cardiovascular (66.7 %) and chromosomal (52.4 %) malformations were diagnosed; and after the twenty-seventh week, renal (9 %) malformations were diagnosed.

Conclusion: Neurological and cardiovascular malformations prevailed. The mean maternal age was higher in chromosomal malformations, and lower in digestive and cardiovascular malformations. Most of the digestive and neurological malformations were diagnosed in the first marker of the Program, while cardiovascular, chromosomal and skeletal malformations were diagnosed in the second marker.