Practically, all patients for hospitalization pass through the diagnostic-consulting block of the hospital. The reviews are carried out by the Ob-Gyns from the inpatient, which in a later stage perform operational and healing work.
Pregnant women who are about to give birth by elective Cesarean section also pass through the DCB
National genetic laboratory
The National Genetic Laboratory (NGL) is located on the 14th floor of the University Obstetrics and Gynecology Hospital “Maichin Dom”. It is a center for diagnosis, prevention and control of treatment of over 120 rare genetic diseases and genetic predispositions in Bulgaria.
The head of the laboratory is Prof. Аleksey Savov, MD
The NGL coordinated and executed the National program for diagnosis and prevention of inherited diseases, congenital anomalies and genetic predispositions in Bulgaria, that was initiated and funded by the Health Ministry (2000 – 2005).
All information is here – http://genetika.maichindom.com/National genetic laboratory website
- Mass neonatal screening for phenylketonuria and galactosemia with more than 2 000 000 newborn tested so far.
- Prenatal screening for Down syndrome, trisomy 18 and neural tube defects with more than 15 000 pregnant women tested so far.
- Selective metabolic and enzyme screening for inborn errors of metabolism disorders (1976-2007) of more than 15 000 patients for over 70 rare inborn metabolic disorders.
- Selective DNA diagnosis of more than 10000 patients for over 50 monogenic diseases in Bulgaria
- Selective metabolic and enzyme diagnosis in more than 200 families for over 20 metabolic disorders
- Selective DNA prenatal diagnosis in more than 3000 high risk pregnancies for the most frequent numerical chromosome abnormalities (Down syndrome, trisomy 18, trisomy 13, Х and У linked anomalies)
- Selective DNA prenatal diagnosis in more than 2000 high risk pregnancies for the most frequent monogenic disorders in Bulgaria
- A National DNA Bank was created.
- A National Genetic Registry was created
- Pre and postnatal diagnosis of chromosomal abnormalities.
- Biochemical screening for Down syndrome, other chromosome disorders and neural tube defects
- Metabolic screening and diagnosis of inborn metabolic genetic disorders
- Enzyme pre and postnatal diagnosis of metabolic genetic disorders
- DNA analysis of monogenic disorders