Geneticist consultation

Just 15-20 years ago, undergoing genetic testing was inaccessible to most people. Today, genetic counseling helps many patients and their families understand genetic risks and make informed decisions regarding family planning,
disease prevention, and treatment choices. Consultation with a geneticist is especially important for families with a history of hereditary diseases or for
couples facing conception problems. It helps prevent hereditary diseases and prepare for pregnancy.

The Israeli Medical Center for Reproductive Medicine and Family Health in Tashkent (IMC) offers professional services of medical-genetic counseling, providing a high level of medical care and an individual approach to each patient.

A geneticist specializes in the diagnosis, treatment, and prevention of hereditary diseases. The main areas of a geneticist’s work include:

• Diagnosis of genetic diseases: Analysis of hereditary pathologies, identification of genetic mutations and anomalies.
• Genetic counseling: Assessment of genetic risks, informing patients about possible hereditary diseases and methods of their prevention.
• Prenatal diagnosis: Examination of pregnant women to identify genetic anomalies in the fetus.
• Postnatal diagnosis: Identification and treatment of genetic diseases in newborns and children.
• Screening programs: Conducting screening tests for the early detection of genetic diseases.

Consultation with a geneticist is recommended in the following cases:

• Family history of hereditary diseases: If there are cases of genetic diseases in the family, such as cystic fibrosis, Down syndrome, hemophilia, and others.
• Problems with conception or carrying a pregnancy: In case of repeated miscarriages, stillbirths, or infertility.
• Parental age: Women over 35 and men over 40 are recommended to consult a geneticist before planning pregnancy.
• Fetal anomalies: When ultrasound markers of genetic anomalies in the fetus are detected.
• Screening test results: If the results of non-invasive prenatal testing (NIPT) or other screening tests indicate an increased risk of genetic diseases.

Consultation with a geneticist during pregnancy allows for the identification and prevention of possible genetic pathologies in the future child. The main stages of the consultation include:

• History taking: The geneticist finds out the medical history of the parents, including the presence of hereditary diseases and previous pregnancies.
• Screening tests: Conducting tests to assess the risk of genetic anomalies, such as non-invasive prenatal testing (NIPT) and ultrasound examination.
• Diagnostic tests: If necessary, invasive diagnostic methods, such as amniocentesis or chorionic villus sampling, are prescribed to confirm or exclude genetic diseases.

For a geneticist consultation, it is recommended to prepare the following documents:

• Passport or other identity document
• Medical record and results of previous examinations and tests
• Family history of hereditary diseases
• Results of ultrasound examinations and screening tests
• Questions and complaints you wish to discuss with the doctor

1. History taking: The geneticist listens to the patient’s complaints, asks questions about family history, previous pregnancies, and medical problems.
2. Risk assessment: The doctor analyzes the collected data and conducts an assessment of genetic risks for the patient and their offspring.
3. Prescription of tests: Depending on the history results, the geneticist may prescribe additional tests, such as blood tests, ultrasound, amniocentesis, or chorionic villus sampling.
4. Consultation and recommendations: After receiving the examination results, the doctor makes a diagnosis and suggests a plan for the prevention or treatment of genetic diseases.

To get the maximum benefit from your geneticist consultation, we recommend preparing questions for the doctor in advance, which are important for decision-making. Here are some of the questions that patients often ask the geneticist during the consultation.

• What genetic tests do I need to undergo?
• What are the risks of transmitting a hereditary disease to my child?
• What methods of prevention and treatment of genetic diseases do you recommend?
• Which screening tests and diagnostic methods are most effective?
• What lifestyle changes can reduce genetic risks?

You can schedule a consultation with a geneticist at the Israeli Medical Center in Tashkent by phone or through our website. We offer convenient appointment hours and an individual approach to each patient.

For the convenience of our patients, we offer the possibility of conducting online consultations with a geneticist. This allows you to receive qualified medical care without leaving home.

Online consultations are especially convenient for patients living in remote areas or unable to visit the center in person.