Abstract

LUNA BARRON, Beatriz et al. INTEGRAL PRENATAL DIAGNOSIS OF DOWN SYNDROME IN LA PAZ - BOLIVIA, SERUM, ULTRASOUND, CYTOGENETIC AND MOLECULAR CORRELATION. Rev. Méd. La Paz [online]. 2014, vol.20, n.2, pp.47-49. ISSN 1726-8958.

Down syndrome (DS) is a genetic disease caused by 21 chromosome, we have now the possibility to offer prenatal diagnosis by non-invasive procedures such as: serum measurement of maternal hormones during the first and second trimester of pregnancy and the fetus ultrasound study searching for malformations, and by invasive procedures like amniocentesis for fetal karyotype or directed molecular test. Prenatal diagnosis is based on combined use of these markers to assess the risk of having fetus with congenital abnormalities (Down syndrome and others). We describe the utility of serum, ultrasound, cytogenetic and molecular correlation like markers of prenatal Down syndrome. The case of a 21 year old female primigravida with 16 weeks pregnancy and serum plus ultrasound data consistent with a chromosomal abnormality. Diagnostic amniocentesis was performed also to obtain fetal genetic for cytogenetic study and molecular characterization), with a fetal karyotype 47,XY,+21. Therefore, importance of comprehensive assessment in prenatal diagnosis and the multidisciplinary approach.

Keywords : Down syndrome; prenatal diagnosis.

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