[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.

[The experience of the genetic laboratory in Varna on maternal serum screening for a six year period].

The aim of the presentation is to report the results of the Genetic laboratory in University hospital "St. Marina" Varna on second (15-19 gw) and first trimester (12-14 gw) maternal serum screening for common chromosome disorders, for the period 2005-2010. The test was performed on 10741 pregnant women from 8 regions of North-Eastern Bulgaria: 9743 women were screened in the second trimester (8251 at the age < 36 and 1492 at the age > 36) and 998 women - in the first trimester (827 at the age < 36 and 171 at the age > 36). The fluorimetric dual method was based on biochemical markers; software calculated risk as function of precise gestational age, maternal weight and age. The most common strategy was to combine the risk as determined from first and second trimester screening test in a sequential manner. High risk for a chromosome disorder (a risk above 1:250) was found by second trimester screening in 784 (8,04%): 488 (5,91%) <36 and 296 (19,83%) >36. The most recent first trimester screen test, which have been involved in the laboratory since April 2010 detected 7 (0,84%) and 23 (13,45%) women respectively to the age groups with increased risk for a chromosome disease. Additional ultrasonographic scan confirmed the biochemical risk for a serious Neural Tube/Abdomainal Wall defects in 5 out of 32 fetuses with increased risk for these defects; other 3 fetuses were detected to be involuntary miscarried as "missed abortion", 1 triploidy included. We comment on the sensitivity, limitations and the stepwise sequential testing way of achieving a high performance of screening for chromosome diseases based on preliminary information to pregnant women on different options for a contemporary approach for genetic prevention.

[Transversal vaginal septum in two months old patient--case report].

The current publication describes a case of a two months old girl with a transverse vaginal septum presented. The clinical debut is with a large hydromucocolpos. It is concomitantly presented with a bilateral postaxial polydactyly of the upper limbs, typical for McKusick-Kaufmann syndrome.