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Photo: Jorge Luis González

Since the early 1980s, Cuba has implemented a national medical genetics program, aimed at the diagnosis, management and prevention of diseases and congenital anomalies, as part of the comprehensive maternal, newborn and child health care system.

Through the progressive implementation of the program throughout the country, which has also included specialized training of human resources and the incorporation of the field of medical genetics in medical degree programs, the infant mortality rate due to congenital anomalies was reduced from 4.2 in 1980, to 0.9 per thousand live births.

According to the results of research to recover statistical and historical data regarding the program, undertaken by doctors Beatriz Marcheco, Araceli Lantigua, Iris Rojas and Yudelkis Benítez, of the National Medical Genetics Center, several million Cubans were clinically examined and studied in laboratories linked to prenatal, neonatal and postnatal diagnosis of genetic disorders, over a period of 35 years.

The research determined the rate of congenital anomalies diagnosed at birth, the incidence of disorders such as phenylketonuria in newborns, and the number of fetuses diagnosed with Down syndrome prenatally, among other data of interest.

A total of 97 master’s thesis associated with this work, which won the National Award of the Cuban Academy of Sciences in 2015, have been defended, while its impacts have been published in over 30 articles in prestigious national and foreign journals, such as the Journal of Genetic Counseling and Prenatal Diagnosis.

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