The main activities of our genetic laboratory include:

Postnatal genetic counselling and diagnosis for:

Carrying out chromosomal aberrations that pose a risk for reproductive disorders
infertility, miscarriages, stillbirths - karyotyping
Y-chromosomal microdeletions in men with azoospermia and oligozoospermia
Congenital thrombophilia
Microstructural genomic aberrations in patients with neurodevelopmental delays, organ malformations and/or dysmorphism
Predispositions to inherited cancer syndromes
Genetic defects in rare diseases: thalassemia, cystic fibrosis, skeletal dysplasia, etc.
Genetic defects in common diseases: epilepsy, visual and hearing impairment, neurodegenerative diseases, etc.

Prenatal genetic counselling and diagnosis for:

Chromosomal abnormalities syndromes - analysis of choral axis and amniotic cells
Microstructural genomic aberrations at multiple developmental anomalies and dead fetus - analysis of choral axes and amniotic cells
Teratogenic effects associated with toxoplasma infections, Zika virus, etc.
Analysis of blood from a pregnant and amniotic fluid
Non-invasive prenatal DNA screening for the most common chromosomal and microstructural genomic abnormalities

DNA diagnosis of infections, including human papillomavirus (HPV)

19 high- and medium-risk types, Zika virus, herpes simplex 1 and 2, chlamydia, ureaplasma urealitis and parva, mycoplasma hominis, gonorrhea necrosis and more. Our hospital's Medical Diagnostic Genetics Lab works closely with leading fetal medicine and hospital reproductive specialists, enabling us to cover all reproductive care options for our patients and avoid the risk of couples at increased genetic risk. Our partners are the National Genetic Laboratory and the Center for Molecular Medicine at Medical University Sofia. Genetic studies are appropriate for all individuals in the presence of competent medical-genetic counselling. They can be targeted for diagnosis, clarification of carrier status (most often in a family history of a specific inherited disease), risk assessment for a given disease or screening, and prevention with prenatal diagnostic methods.

The team: 

Senior Genetic Consultant - Prof. I. Dimova, MD
Prof. Dimova has been working since 2001 at the Department of Medical Genetics at MU Sofia, where she is currently an Assistant Professor. In 2006 she defended her doctoral dissertation on "Genetic characteristics of different types of ovarian tumours". She has specialized in a number of leading international centres, such as the University of Montpellier (France), the University of Cambridge (England), Wiesbaden (Germany), and the Medical University of Istanbul (Turkey). She has worked as an assistant professor at the University of Friborg and the University of Bern (Switzerland). She has more than 90 publications with more than 450 citations in prestigious international journals and has participated in over 20 scientific projects (leader of three international projects). Prof. Dimova introduced for the first time in Bulgaria the method of DNA microarray analysis, which is an indispensable tool in the diagnosis of children with developmental abnormalities.

Head of Molecular Genetics Unit - Biologist M. Hristova-Savova

Head of Unit "Prenatal and Postnatal Cytogenetics and Molecular Cytogenetics" - Dr. N. Trapchevska

In the construction of the modern genetic laboratory at Dr. Shterev Hospital, we invested in the latest generation of high-tech equipment for the application of the capabilities of modern medical genetics.