Ludmila Angelova

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OBJECTIVES The aim of our study was to characterize the neurological symptoms in Bulgarian patients with Wilson disease (WD), to investigate genotype-phenotype correlations, and to test whether there are differences in phenotype between patients of different ethnic origin. PATIENTS AND METHODS A total of 126 Bulgarian patients with WD were included in the(More)
UNLABELLED Performance of 2,5 year experience onprenatal (maternal) screening by integrated risk for Down syndrome and Edwards syndrome is presented in pregnant women underwent first (11(+0)-13(+6) g.w) and second trimester screening (14(+4)-19(+3) g.w), assessed by an integrated risk. Since the end of 2010 the most common strategy has been combination of(More)
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(More)
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(More)
Hereditary hemorrhagic teleangiectasia (HHT) is a genetic disorder, characterized by abnormal vessel formation and arteriovenous malformations (AVMs). The so-called "Curaçao criteria" are most commonly employed for the purposes of clinical diagnosis. However, children may not exhibit the full magnitude of symptoms and the Curaçao criteria appear to be less(More)
UNLABELLED The aim is to perform our eight-year experience on prenatal (matemal) screening for Down syndrome (DS). METHODS Pregnant women underwent screening in second trimester (ST2) - 14(+4)-19(+3) gestational week using serum AFP and free beta-hCG biochemical markers. A more sensitive first trimester test has been implemented in 11(+0)-13(+6)(More)
The results from chromosomal analysis of 185 couples, studied on the occasion of reproductive failures (RF), such as sterility, spontaneous abortions, stillbirths and malformed children are presented. Twenty nine couples (15.68%) with one of spouses--a carrier of a chromosomal anomaly (CA) are established. CA types include: aneuploidy--2, mosaic--5,(More)
Active screening for genetic pathology over a period of 12 years (1990-2001) involved examination of 29629 newborns at the Clinic of Obstetrics and Gynaecology. Congenital anomalies were detected in 1244 cases (live-, stillbirths and terminated pregnancies) which gives an average incidence rate of 42.0 per 1000 among the studied population. Chromosomal(More)