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2014, Number 1

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Rev Cub Gen 2014; 8 (1)

Chromosomopathies echographic markers and results of prenatal cytogenetic diagnosis in Camagüey: 2007-2013

Pimentel BHI, Tru MFA, Arrieta GR, Figueroa BN, Peña GF, Paz RM

Language: Spanish
References: 29
Page: 12-18
PDF size: 352.38 Kb.


ABSTRACT

From their initial application, ultrasound techniques allowed carrying out a real-time dynamic study of the fetus and, as technology was improved, several investigations suggested that there might be a correlation among a group of morphologic fetus studies and the presence of aneuploidies. This paper has the objective of describing the results of the ultrasonographic and cytogenetic markers studies during the first pregnancy trimester in the Camagüey province in Cuba during 2007-2013, as applied to prenatal diagnosis of chromosomopathies. A descriptive transversal study was carried out of the information registered in the Cytogenetics Laboratory of the Camagüey Medical Genetics Provincial Center. The universe was constituted by 163 pregnant women in which the presence of ultrasonographic markers in the first trimester of pregnancy was detected, followed by a cytogenetic prenatal diagnosis study carried out, the most frequent marker being increased fetal nuchal translucency. Twenty one chromosomal aberrations were detected, 17 out of which were aneuploidies, one mixed diploid-triploid and three structural aberrations. The study allowed confirming that there is a large number of cytogenetic prenatal diagnoses, indicated by the positiveness to echography markers of the first trimester, where no chromosomal defects are present. Nuchal translucency in the first pregnancy trimester constitutes an important tool for the evaluation of genetic risk.


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