Prenatal screening of fetal congenital malformations, fetal chromosomal abnormalities

• Cytogenetic examination of peripheral blood lymphocytes (Karyotype).
• Chromosomal study of chorionic villi.
• Dopplerometry of uterine-placental-fetal blood flow.

The medical genetic service has been operating for over 25 years in the Regional Clinical Hospital. All consultation staff ishighly qualified specialists with wide experience in the field of medical genetics and genetic counseling.

What can a genetic consultation offer?

• Full clinical and genealogical examination of the family.
• Information about the risk of recurrence of the disease in the family.
• Information about the disease, methods of treatment and prevention of congenital defect.
• Prevention methods that reduce the risk of pathology of a fetus and a newborn. The availability of a well-equipped hospital, constant contact with the departments of the Privolzhsky Research Medical University, work in rapport with highly qualified specialists, the use of modern diagnostic equipment provide several advantages. It is possible to consult and hospitalize a patient with a suspected congenital defect in the department for further examination and treatment (after consulting of a highly specialized physician in the profile of the disease).

The following types of clinical genetic and laboratory diagnostics are used in the medical and genetic consultation:

• Conventional clinical and genealogical examination.
• The study of the chromosome set of peripheral blood lymphocytes using differential staining - GTG –CBG (study of the karyotype).
• Cytogenetic study of chorionic villi in a missed miscarriage.
• Non-invasive prenatal diagnosis of hereditary diseases and fetal congenital malformations:
• Ultrasound examination of the fetus in terms of 11-13 weeks., 19-20 weeks and 30-31 weeks of gestation. Preliminary appointment for ultrasound by phone (831) 438-95-66. If you are not pre-recorded, medical and genetic consultation reserves the right to refuse to conduct a study due to the high need for conducting this study).
• Dopplerometry of  uterine-placental-fetal blood flow.
• Consultation on the results of ultrasound screening and biochemical screening.
• Genetic study applying polymerase chain reaction (PCR) method:
• For thrombophilia.
• Folate cycle disorder.

Specialists:

Kozina Nadezhda KornilovnaHigh Level Certificate Geneticist, Head of the Department