Detection of Hemoglobinopathies in Cuban Pregnant Women from the Program: Sickle Cell Anemias in Cuba

Foundation: prenatal detection of hemoglobinopathies in Cuba is performed on all pregnant women in Pri-mary Health Care, through hemoglobin electrophoresis to identify high-risk couples. The program provides genetic counseling, molecular prenatal diagnosis and selective interruptions of affected fetuses, at the re-quest of couples. Objective: determine the type and frequency of hemoglobinopathies in Cuban pregnant women. Method: a descriptive, retrospective and cross-sectional study was carried out to determine the type of hemoglobinopathies in 1,342,917 pregnant women recruited over a period of ten years. The research meth-od was hemoglobin electrophoresis in agarose gels at alkaline pH. Confirmation by electrophoresis of hemo-globin in agarose gel at acidic pH, both methods using the Hydrasys 2 equipment. Results: the overall frequency of pregnant women with hemoglobinopathies was 3.5 %. Hemoglobinopa-thies were detected in 47,465 women; 38,698 with heterozygous S variant, 8,706 hemoglobin C variants and 158 other variants. 44,283 husbands with hemoglobinopathies were detected, 3,099 high-risk couples were detected, and 2,689 molecular prenatal diagnoses were performed. 522 affected fetuses were confirmed and 382 couples requested termination of pregnancy. The program reached 99.24 % coverage in the country. Conclusions: the detection of hemoglobinopathies in pregnant women residing in Cuba allowed us to know the type of hemoglobinopathy and the frequency of abnormal hemoglobins and new variants, hence the in-terest in continuing the research program to prevent the appearance of severe forms of the disease

Expresiones clínicas en niños nacidos de madres infectadas por el virus del Zika durante el embarazo en el Hospital Pediátrico Borrás-Marfán. 2016-2018

Introduction: The infection of the Zika virus that is endemic in Asia and Africa has now been extended to the Americas. This virus is considered teratogenic, producing a new disease that must be studied in depth. Objetives: This is to identify the clinical expressions found in children from mothers infected with the Zika virus during their pregnancy, and thereby establish the possible association of the time of the prenatal exposure to the Zika virus and the positive clinical findings. Methods: We carried out a transversal descriptive study, with 86 children from women having had an infection by the Zika virus, which were pregnant between January 2016 and December 2018. For the correlation between the presence of positive findings and the trimester of pregnancy at the detection of the infection by the Zika virus, we used Spearman’s correlation with a significance level of p ≤ 0.05. Results: Out of the total number of patients included in the study, 27 expressed a positive clinical finding. Among the neurological disorders, those related to muscular tone were the most frequent (15.48%), followed by psychomotor retardation (10.71%) and microcephaly (9.52%). An association was observed between the prenatal exposure to the Zika virus during the first trimester of pregnancy and the presence of positive clinical findings. Conclusions: There was a prevalence of neurological expressions, followed by visual expressions. The evidence proved that the exposure to the Zika virus during the first trimester of pregnancy had a teratogenic effect.Introducción: La infección del virus del Zika, endémico en Asia y África, se ha extendido a las Américas. Este virus se considera teratógeno, produciendo una nueva enfermedad que debe ser estudiada en profundidad.Objetivos: Identificar las expresiones clínicas encontradas en niños nacidos de madres infectadas con el virus del Zika durante su embarazo, y establecer la posible asociación del momento de la exposición prenatal al virus del Zika y los hallazgos clínicos positivos.Métodos: Realizamos un estudio descriptivo transversal con 86 niños nacidos de mujeres que habían tenido una infección por el virus del Zika durante el embarazo entre enero de 2016 y diciembre de 2018. Para la correlación entre la presencia de hallazgos positivos y el trimestre del embarazo en el que se detectó la infección por el virus del Zika, utilizamos la correlación de Spearman con un nivel de significancia de p ≤ 0,05.Resultados: De la cantidad total de pacientes incluidos en el estudio, 27 presentaron hallazgos clínicos positivos. Entre los trastornos neurológicos, los relacionados con el tono muscular fueron los más frecuentes (15,48%), seguidos del retraso psicomotor (10,71%) y la microcefalia (9,52%). Se observó una asociación entre la exposición prenatal al virus del Zika durante el primer trimestre del embarazo y la presencia de hallazgos clínicos positivos.Conclusiones: Hubo una prevalencia de expresiones neurológicas, seguidas de expresiones visuales. La evidencia demostró que la exposición al virus del Zika durante el primer trimestre del embarazo tuvo un efecto teratógeno