Medical-Genetic consultation
Head of the Department- Zurabyan Nelli Doctor of Medicine |
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The Medical-Genetic Consultation in the Research Center of Maternal and Child Health Protection is functioning from 1974. The structure of the Consultation is the following:
The medical-genetic consulting-room
The laboratory of prenatal medicine
The laboratory of biochemical genetics The Medical-Genetic Consultation is a specialized type of health care, which is aimed at the diagnostics (postnatal and prenatal), and the prevention of inborn errors of development and inherited diseases.
The indications for medical-genetic consultation are the following:
Inborn errors of development of children
Suspicion on the inherited pathology (Dawn syndrome, Klainfelter syndrome, phenylketonuria, etc)
Physical and mental retardation of an unknown etiology
Several children in a family or other family members with similar diseases
Chronic diseases of an unknown origin, which are hard to treat (pneumonia, pyelonephritis, etc.)
Failure of the development of the bone system (chondrodistrophies, maxillary and facial disostoses, fragile bones, etc.)
Anomalies in the genitals
An unusual smell of the urine
Marked failures of pigmentation; pigmented xerodermy, neurofybromatose knots
Unendurability of some food
Spontaneous abortions of an unknown etiology
Still-borne of an unknown etiology
Early infant mortality for an unknown reason
Primary and secondary amenorrhea
Sterility if the gynecological diseases are excluded
Pregnant women which work in an harmful trade
Pregnant women which have used medications during the first trimester of the pregnancy
Pregnant women which have had infections during the first trimester of the pregnancy A register of the inborn errors of development in the City of Yerevan is created in the Medical-Genetic consultation.
In the ‘Consultation’ consultations of the genetic doctor are conducted to diagnose the inborn errors of development and inherited diseases, to specify the genetic risk of the repetition of a disease and to choose a method of the prenatal diagnostics and prevention of inborn anomalies of development. For these reasons the following investigations are conducted:
Investigation of sexual chromatin
Investigation of caryotype by using of different methods of differential --- of chromosomes (G-, C-, R-banding), molecular-cytogenetical method FISH (in situ hybridization) The materials for the investigation are the following: lymphocytes of peripheral blood, villous of chorion, amniotic fluid cells, and umbilical blood cells.
Dermatoglifics
Investigation of alfa-fetoproteins in blood serum
Investigation of PPAP-A protein in blood serum
Urine screening for the diagnostics of inherited diseases of metabolism
Investigation of phenylalanine in blood serum
Diagnostics of mycoviscidosis; by investigation of chlorides in sweat
Amniocentesis
Cordocentesis |
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