Geneticist

A geneticist is a specialist who studies the mechanisms of transmission of diseases from generation to generation. Each of these diseases has its own transmission patterns. Carriers of a defective gene do not necessarily pass it on to their children, and being a carrier does not always mean getting sick.

In the world, 5% of children are born with congenital diseases. The most common diseases that a geneticist can prevent are:

1. Hemophilia.
2. Color blindness.
3. Spina bifida.
4. Down syndrome.
5. Congenital dislocation of the hip.

When should you see a geneticist?

Not all pregnant women are prescribed a genetic consultation. When should you see a geneticist? First of all, you should contact those who already have a child with a hereditary pathology, if the mother is over 35 years old, or if during pregnancy the woman underwent chemotherapy or had an X-ray of a large area of the body.

What diagnostic methods does a geneticist use?

People often ask what tests they need to take when visiting a geneticist. Those who visit a geneticist are prescribed a test for the presence of a mutant gene that causes the disease.

You are probably interested to know what diagnostic methods a geneticist uses?

• Genealogical method. Collecting data on the patient's pedigree. If you have information about the health of your ancestors in several generations, it can be very valuable for a geneticist. Take an example from those who carefully treat their roots and know about the lives of their grandparents and their parents.
• Biochemical method – used to diagnose genetically determined metabolic pathologies.
• Antenatal diagnostics – applied to a fetus already conceived by a woman. Amniotic fluid is collected at a time when it is possible to terminate a pregnancy. Immunochemical analysis of amniotic fluid is performed based on such parameters as alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), estriol and 17-hydroxyprogesterone. An increase in AFP is an indicator of a developmental disorder of the central nervous system (anencephaly, spinal cord cleft, etc.). A decrease in AFP and estriol and an increase in hCG may indicate Down syndrome in the fetus. An increase in 17-hydroxyprogesterone indicates a disorder of the adrenal glands.
• Twin method.
• Muscle biopsy.

Geneticist's Advice

Geneticist's advice that can help you give birth to a healthy baby is quite simple.

If a woman becomes pregnant after age 35, she is assigned a genetic consultation.

Consanguineous marriages are not recommended. If the degree of kinship between the father and mother of the child is high, he may be born with abnormalities. If you still want to enter into a consanguineous marriage, visit a geneticist in advance.

The final word always remains with the parents; the geneticist only informs the spouses about a possible pathology.

Genetic diseases

The most common genetic diseases that a geneticist can prevent.

• Alkaptonuria is a congenital deficiency of the enzyme homogentisinase. Signs of the disease: urine becomes black, cheeks and sclera gradually become colored. Diet therapy is recommended, excluding meat and eggs.
• Histidinemia is a deficiency of the enzyme histidase. As a result, the products of improper metabolism toxically affect the nervous system. This affects the child's mental development. He lags behind in growth and suffers from increased nervous excitability. The disease occurs in one in 20,000 children. Such patients can be helped by prescribing a special diet with an emphasis on fats and carbohydrates.
• Polycystic kidney disease is a disease that affects more than 12 million people worldwide. It is characterized by the formation of multiple cysts in the kidneys. They form in the womb, and in adulthood they can affect the kidneys in such a way that they completely stop working. Symptoms of the disease: abdominal pain, urinary tract infections, kidney failure. There is no specific treatment, a kidney transplant may be required.
• Marfan's disease is a disease that affects connective tissue. It is characterized by thin, skinny fingers and heart defects. The disease can affect the lungs and musculoskeletal system. Patients often have disproportionate limbs, scoliosis, malocclusion, visual impairment and glaucoma, and heart rhythm disturbances.
• Hemophilia is a hereditary blood clotting disorder. There are two types of the disease: one caused by a disorder of blood clotting factor VIII and one caused by a disorder of blood clotting factor IX. The average prevalence is 1:30,000.
• Symptoms of hemophilia: prolonged bleeding into joints and muscles.
• Treatment is carried out using special replacement therapy.
• Down syndrome occurs when, during the formation of a zygote, a child receives an extra 21st chromosome from the mother or father.

Patients have a characteristic appearance: a flat face with slanted eyes, a wide tongue, a round head with small ears. The hair is very soft and straight. The hands are wide, the little finger is shortened.

Special work is carried out with the parents of such children. Down syndrome is not curable, but people with it can be adapted into society. More and more children with this defect remain in their families.

Modern genetics has reached such a high level of development that it can be said that a qualified geneticist is your assistant in the birth of healthy and beautiful children. Of course, whether hereditary diseases will appear in your children largely depends on your attitude to yourself and your health. Hereditary predisposition is not a sentence. Most diseases are multifactorial. You can help the baby be born healthy if you eliminate the influence of harmful factors even before its appearance.

A geneticist can help prevent many serious illnesses in your children. Genetic counseling does not change the fact that you will have the final say on whether to give life to this child.

A geneticist can also help you if you want to know your risk of developing cancer, atherosclerosis, stroke, and diabetes. The world was shocked when actress Angelina Jolie, having learned about her high risk of developing breast cancer due to her mother's illness, decided to have a mastectomy. We are not calling on you to take extreme measures. But perhaps a geneticist, having informed you about your predisposition to cancer, will encourage you to take better care of yourself.