The office of medial-genetic consultation renders genetic help. Republican medical-genetic consultation in Armenia for the first time was created in the RCMCHP in 1976. Medical-genetic consultation renders a specialized kind of medical aid, the purpose of which is diagnostics and preventive maintenance of congenital and hereditary pathology.
The opening of republican medical-genetic consultation was caused by the fact that 5% of children are born with hereditary pathology. Frequency of chromosomal pathology at newborns is 0,8%. In 1981, a register of congenital and hereditary pathology was established in the Center. Republican medical-genetic consultation of the RCMCHP is the only center in Armenia which provides not only research of serum of blood of pregnant women on protein PAPP-A and MSAEP, but also chorion biopsy in the first trimester of pregnancy, amniocentesis and cordocentesis in the second trimester.
Thus chromosomal analysis of amniocytes and kernels of interphase chorion is done by two methods: method of cultivation and molecular-cytogenetic method of fluorescent in situ hybridization (FISH). Advantage of the FISH method is that a small quantity of the biomaterial is enough to obtain the results of the analysis within 2-3 days while cultivation method requires around 3-4 weeks.
The medical group of the office provides consultation to:
1. Children with congenital developmental anomalies and hereditary diseases.
2. Children with delay of intellectual and physical development
3. Patients with uncertain sex
4. Patients with primary amenorrhea
5. Couples who has failure with previous pregnancies (stillbirth, habitual miscarriage, early children's
death, birth of a child with congenital defects and/or chromosomal diseases).