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Laboratory of medical genetics at University Hospital "St. Marina" celebrates 10 years

This paper was not found in any repository; the policy of its publisher is unknown or unclear.
This paper was not found in any repository; the policy of its publisher is unknown or unclear.

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Abstract

The aim of this announcement is to represent the structure of the Department of Medical Genetics and describe its activity in the period between its foundation in June 2003 and June 2013. The cytogenetic lab section had gradually introduced tissue cultivation of lymphocytes from peripheral blood (2003), bone marrow (2004), amniocytes (2006) and fibroblasts (2012) to determine different chromosomal anomalies. Over a period of 10 years 1965 patients were examined via cytogenetic methods. Chromosome diseases were diagnosed in 294 (15%) patients and in 23 (4,8%) fetuses. Mar-kers for onco-hematological diseases were found in another 36% of the patients. The biochemical screening section was founded in 2005 and gradually introduced second-trimester, first-trimester and sequential screening with integrated risk evaluation. 19 369 pregnant women (19 609 genetic tests) underwent the biochemical screening approach for prevention of Down synrome and other chromosome diseases. Out of that number 1350 women (6,8%) exhibited increased risk and were offered additional diagnostic procedures. As a result 20 fetuses were found to have chromosome aberrations and 9 others were diagnosed with different congenital anomalies. Annually around 3200 patients are provided with medicogenetic counseling about various genetic conditions. The main part of them is pregnant women (75%) in the program of mass screening; followed by families with indication for prenatal diagnosis (7,4%) reproductive failures (4,5%), single gene disorders (4,3%). Other target groups are the patients from pediatric and hematologic departments with different rare syndromes. In conclusion we observe a steady tendency of increase of the volume and types of genetic testing. It is impending and forthcoming to provide a wider spectrum of genetic diagnostic approach including molecular-genetic testing for patients with single gene diseases.