Resumo

RUOTI COSP, Miguel. Analysis of results of genetic amniocentesis in a private center. Mem. Inst. Investig. Cienc. Salud [online]. 2016, vol.14, n.2, pp.75-83. ISSN 1812-9528.  https://doi.org/10.18004/Mem.iics/1812-9528/2016.014(02)75-083.

Identification of fetal chromosomal abnormalities is one of the main issues which need to be addressed by any obstetrician involved in diagnosis of congenital anomalies. Clinical and cytogenetic characteristics were analyzed in pregnant women subjected to amniocentesis. This was an observational descriptive retrospective study that included consecutive cases in a private center from July, 2010 to January, 2015. The samples were processed in CGC Genetic (Porto - Portugal). For the statistical analysis, PEPI 4.0X. was used. Sixty seven studies were conducted, in 98.5% karyotype was obtained , 74.2% was normal and 25.8% abnormal: 35.4% Trisomy 21, and 17.6% Trisomy 18, Trisomy 13 and Sx Turner respectively. Among the the main indications: 6.0% maternal age, 14.9% maternal age plus ultrasound alteration, 77.6% ultrasound alteration (45.2% major congenital malformations, 20.1 increased nuchal translucency , 17.7% cystic hygroma among others). The mean gestational age of the puncture was 19 weeks, the lowest 15 and the highest 30. The result of the karyotype was received 12 days after the technique, the minimum 8 days and the maximum 29. There were no obstetric complications. The follow-up of cases found concordance between the karyotype and the phenotype of the newborn. Although this was a low number of samples, the amniocentesis was reliable diagnostic method with low risk. The prenatal diagnosis of chromosomopathies allowed the genetic counseling and appropiate obstetric and pediatric management cases. In pregnancies with normal karyotype, this result alleviated the concern of many parents.

Palavras-chave : genetic amniocentesis; aneuploidies; indications; congenital malformations; ultrasound markers.

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