Resumo

POSSO ALVAREZ, Julio César; SINISTERRA GALARZA, Sandra Liliana; VASQUEZ ZAPATA, Gustavo Adolfo  e  ISAZA DE LOURIDO, Carolina. Genetic studies in pregnancies. Rev Colomb Obstet Ginecol [online]. 2004, vol.55, n.1, pp.43-47. ISSN 0034-7434.

Introduction: adverse impacts to the family and the health care system result from the discovery of a fetus or newborn with a chromosomal anomaly. The results of genetic studies at the Service of Perinatology of the Rafael Uribe Uribe Clinic of the Public Health Institute Hospital (Cali, Colombia) during the last 6 years are presented. Objective: to describe the frequency of chromosomal anomalies in the Rafael Uribe Uribe Clinic in Cali from January 1, 1997 to December 31, 2002. Materials and methods: chart review of all the genetic procedures done to pregnant women that underwent diagnostic amniocentesis or cordocentesis. Results: 615 procedures for prenatal diagnosis were found: 604 amniocentesis (98,21%) and 11 cordocentesis (1,79%). 19 abnormal studies (3,09%) were found. From those studies, 17 corresponded to aneuploidy (89,47%): 6 trisomy 21 (31,57%), 4 trisomy 18 (21,05%), 2 trisomy 13 (10,52%), 2 Klinefelter's syndrome (10,52%) and 3 monosomy 45XO (15,78%); 2 structural alterations were presented (10,53): 1 corresponded to a reciprocal translocation (46XX, t (6,15) der 15) (5,26%) and 1 deletion (46XX, 9 q (-)) (5,26%). The indications for the genetic study were: Maternal age (>35 years old), abnormal ultrasound findings, and elective. Conclusions: the results obtained are similar to those published in the world literature, being Trisomy 21 the most frequent chromosomal alteration. Keeping in mind that to diagnose one chromosomal anomaly 32 studies were required, we should refine criteria used by other practitioners to refer patients for prenatal genetic diagnosis, and should increase the use of the ultrasound and biochemical markers with the purpose of performing the smallest number invasive procedures in these patients.

Palavras-chave : genetic studies; amniocentesis; cordocentesis; chromosomal anomaly.

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