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          VOLUME 50 / ISSUE 1


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5 - Genetic amniocentesis results: analysis of the 3721 cases

Ali Acar, Fedi Ercan, Selman Yildirim, Huseyin Gorkemli, Kazim Gezginc, Osman Balci, Harun Toy, Aysegul Zamani, Sevcan Sarikaya, Berkan Sayal, Metin Capar, Mehmet Cengiz Colakoglu

Objective: To retrospectively investigate the 7-year experience of prenatal diagnosis of fetal chromosome aberrations by second-trimester genetic amniocentesis.

Material and Method: Data were collected at Meram Medical Faculty Obstetric and Gynecology Department between January 2007 and January 2014 from cytogenetic analyses of cultured amniocytes from second-trimester amniocentesis. The main indications for amniocentesis included advanced maternal age, abnormal maternal serum screening results, and abnormal ultrasound findings. Chromosome aberrations included autosomal aneuploidies, sex chromosome aneuploidies, polyploidies, and rearrangements.

Results: A total of 3702 amniocenteses were performed and analyzed for chromosome aberrations. Among these, 1677 (45.1%) were for abnormal maternal serum screening results, 1332 (35.8%) for advanced maternal age, 586 (15.8%) for abnormal ultrasound findings, and 126 (3.3%) for other reasons. Chromosome aberrations were detected in 131 (3.6%) cases, including fetuses of 53 older mothers, 37 mothers with abnormal serum screening results, 34 mothers with abnormal ultrasound findings, and 7 mothers with other reasons for amniocentesis. Of fetuses with chromosome aberrations, 106 (80.9%) had numerical chromosomal disorder. The other 25 (19.1%) cases included structural chromosomal disorder.

Conclusions: For daily practice, our data could offer a database for proper genetic counseling, such as termination issues and future pregnancies.

Keywords: Amniocentesis, chromosome aberration, prenatal diagnosis

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