Méndez RLA, Morales RE, Quiñonez MO, Barrios MA, Oliva RJA, Nodarse RA, Soriano TM, García GM, Suárez MU, Molina GO, Castelvi LA, Cabrera EM, González GN, del Sol GM, Maceiras RL, Bravo ÁY

Language: Spanish
References: 14
Page: 7-11
PDF size: 434.88 Kb.

ABSTRACT

Cytogenetic prenatal diagnosis (CPD) is a very effective option in the diagnostic of the fetus chromosomes. This program was initiated in Havana in 1983, specifically in the Laboratory of Citogenetics. Since then several CPD modalities have been employed, such as amniocentesis, chorionic villi biopsy, cordocentesis and FISH. The purpose of this article is to evaluate the results of the Laboratory of Cytogenetics from the Havana’s National Center of Medical Genetics during these years of work. It was undertaken a retrospective descriptive study of prenatal diagnose procedures in the 1983-2012 period. There were analyzed 22 835 prenatal diagnosis from which 20 565 corresponded to amniocytes culture (AC), 1785 to chorionic villi biopsy (CVB), 385 fetal blood samples from umbilical cord (FBS) and 100 cases in interfase cells using FISH technique. In AC and CVB samples predominated the advanced maternal age indication and the percentage of positive results fluctuated between 2-3%. In FBS and FISH tests the chromosomal abnormalities detection percentage increased until 8-9%. It is necessary to introduce screening of biochemical markers in maternal serum, in order to increase the detection percentage of anomalies. Congenital Defects World Report place Cuba among the countries with lowest Down syndrome and other chromosome aberration rates, demonstrating the effectiveness and social impact of the prenatal diagnosis program.

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