Abstract

CASTRO VOLIO, Isabel et al. Cariotipos fetales en embarazos de alto riesgo genético provenientes de hospitales de la seguridad social y de la consulta privada, de 1993 a 1998. Acta méd. costarric [online]. 2000, vol.42, n.1, pp.25-30. ISSN 0001-6002.

The results of 506 genetic amniocentesis and 46 percutaneous umbilical blood samplings, from 1993 to 1998, are reported. There were two main reasons for referral: abnormal ultrasound assessment (62% of cases) and advanced maternal age (23%). Most procedures (66%) were performed during the second half of pregnancy. Fetal cells were closed cultured and mass harvested. In 9% of cases fetal chromosomes were abnormal, due to trisomies 18, 21 and 13, monosomy X, mosaic trisomies 21 and 22, balanced and unbalanced translocations, extra structurally abnormal chromosomes and other defects. Two cases of pseudomosaicism were detected. Turn around time was 15 days median. Prenatal cytogenetic and sonographic findings correlated with the phenotype of the newborn. Prenatal diagnosis of fetal defects allowed genetic counseling as well as better obstetric management and pediatric care. Normal results of both tests provided reassurance to prospective parents.

Keywords : amniocentesis; prenatal diagnosis; fetal chromosome analysis; pregnancy; sonography.