Ultrasonographic markers as predictive signs of chromosomal aberrations in early fetal period
Keywords:
DIAGNOSIS/ultrasonography, CYTOGENETICS, CHROMOSOME DISORDERS, FETAL DEVELOPMENT.Abstract
Background: ultrasonographic studies are used in the early fetal diagnosis. By means of ultrasound markers a significant number of birth defects can be determined.
Objective: to describe the usefulness of ultrasonographic markers in the early fetal period as predictive signs of chromosomal aberrations.
Methods: a cross-sectional and descriptive study was carried out in pregnant women in Camagüey province during the years 2012 to 2014. The study population was composed of 117 pregnant women who underwent cytogenetic study as the fetus was carrier of some ultrasonographic marker. The data were obtained from the cytogenetics laboratory of the Provincial Medical Genetics Center in Camagüey and the genetic risk health histories.
Results: nuchal translucency and choroid plexus cysts were found in 60 % of the ultrasonographic markers of the early fetal period of gestation. A relationship between the nuchal translucency and the absence of the nasal septum was found with the results of the cytogenetic study. The most frequent chromosomal aberration was trisomy 21, representing 7,7 % of the sample. The rest individually represents 0,85 % of the chromosomal disorders diagnosed.
Conclusions: a relationship between the ultrasonographic markers of early fetal period of gestation and cytogenetic prenatal diagnosis was found. Nuchal translucency and choroid plexus cysts were determined as the most frequently presented sonographic signs.Downloads
References
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