Results of six years of cytogenetic studies in amniotic fluid
Keywords:
CYTOGENETICS, CHROMOSOMES, MATERNAL AGE.Abstract
Background: research into different genetic diseases is one of the preventive programs of paramount importance at public health level. The early detection of chromosomopathies and the establishment of an appropriate strategy reduce the morbidity-morality rate and improve the patients’ quality of life.
Objective: to describe the behavior of the results of the cytogenetic studies in the amniotic fluid of pregnant women from Las Tunas province during six years: from 2008 to 2014.
Methods: a retrospective and descriptive study was carried out to assess the results of cytogenetic studies in amniotic liquid during six years: from 2008 to 2014. The statistical records were checked and the results, the indication criteria, the behavior of the age groups in women advanced in age and the diagnosed chromosomopathies were assessed.
Results: the samples with results that exceeded the non-conclusive and positive women prevailed; 2, 3 positive cases of chromosomopathies were diagnosed out of 100 studied women at risk; pregnant women of advanced gestational years prevailed as indication criterion, being the 37 to 40 years old age group the predominant one; in the positive cases, numeric chromosomopathies of the type trisomy 21 or Down’s syndrome prevailed, with a frequency of 1, 2 out of 100 pregnant women at risk.
Conclusions: the program of the cytogenetic diagnosis in the amniotic fluid has been an effective tool to detect congenital prenatal defects by chromosomopathies, very useful in the process of genetic advice.
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