Cytogenetic Prenatal Diagnosis in the Province of Cienfuegos between 2007 and 2010

Abstract

Background: cytogenetic prenatal diagnosis is nowadays part of the care provided in developed countries to high-risk pregnant women and is an indispensable component of preventive genetic programs driven by the World Health Organization. Objective: To present the results of cytogenetic prenatal diagnosis in the province of Cienfuegos. Methods: A chronological series study was developed at the Provincial Center of Medical Genetics of Cienfuegos on all cytogenetic prenatal diagnoses that were performed between 2007 and 2010. We analyzed causes of study, number of diagnoses and types of anomalies detected. Results: during the period analyzed, 1172 amniocentesis of pregnant patients were processed and 1076 of them were diagnosed for 91, 81 % efficiency. 85,5 % of the cases studied were women over 37 years old. 32 chromosomal abnormalities were detected. The order of frequency of chromosomal abnormalities among the positive cases was: numerical aberrations (65, 63 %), structural aberrations (18, 75 %) and mosaics (15,63 %). The most common chromosomal abnormality was Down syndrome with 46,88 % of total aberrations detected. Conclusions: the indicators analyzed behave similarly to those reported in literature both from our country or international.

Keywords

• diagnóstico prenatal
• análisis citogenético