[The experience in genetic laboratory Varna in amniocentesis and genetic analysis for the period 2006-2010]

The aim of this report is to present and discuss the results from diagnostic amniocenteses, performed in Varna. The test started as a part of a prophylaxis program for pregnant women with calculated high risk for chromosomal disorders after a screening test. Amniocentesis was performed in total of 283 pregnant women. Of all patients who underwent the screening test, amniocentesis was performed in 1.55% of women under 36 years of age and 5.0% of women over 36 years. In the selected group with calculated high risk for chromosomal disorder these percentages were 28.5% and 26% respectively. Fetal chromosomal disorder was found in 5% (in 7 out of 141) in women under 36 and 3.82% (in 7 out of 83) in women over 36 years. Genetic tests (DNA and cytogenetic analysis) of amniocytes revealed chromosomal disorders in 16 (5.65%) fetuses (8 with trisomy 21, 3 with trisomy 18, 1 with trisomy 13, 1 case with triploidy, 3 cases with structural chromosomal rearrangement). Three additional amniocenteses were performed, indicated by family history of monogenic disorder (thalassaemia, spinal muscular atrophy). The effect of the introduced method for prenatal diagnosis, its interaction with the screening tests and their future as genetic prophylaxis program are discussed.