2009, Number 04
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Ginecol Obstet Mex 2009; 77 (04)
Genetic amniocentesis in high-risk populations. Experience in 3.081 cases
Cerrillo HM, Yerena VMC, González PME, Godoy H, Galicia J, Gutiérrez NA
Language: Spanish
References: 16
Page: 173-182
PDF size: 434.61 Kb.
ABSTRACT
Background: Prenatal diagnosis is an advantage for couples with certain lifestyles, ensures self-determination of an affected child or procreate a healthy. However, Mexico has been performed only in private hospitals and the National Medical Center November 20 ISSSTE and the National Institute of Perinatology.
Objective: To evaluate the frequency of chromosomal abnormalities in 3081 amniocentesis performed in patients at high risk of having an affected child.
Materials and methods: we analyzed the results of amniocentesis performed between September 1987 and August 2006. Data analysis was done using frequency tables and chi-square, Yates corrected and Mantel-Haenzel.
Results: Most studies were requested by maternal age, maternal distress and positive biochemical marker. 9% (≤ 14 weeks) were early amniocentesis and 91% regular (≥ 15 weeks). The samples were processed in triplicate in an open cultivation system. The fetal karyotype was obtained in 99.9% of the studies, 10.5 ± 1.4 days. Chromosomal abnormalities were detected in 128 cases (4.2%), 103 were unbalanced and 25 balanced. The most frequent abnormalities were: Down syndrome 39%, balanced translocations 13.2%, 12.5% of Edwards syndrome, alterations in sex chromosomes and 11.5% unbalanced structural aberrations 7%.
Conclusions: Our data could be used to provide genetic counseling based on the experience reported here.
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