Doctor Geneticist - Who Is He And What Heals? Appointment

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Video: Doctor Geneticist - Who Is He And What Heals? Appointment

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Video: What to expect at a genetic counselling appointment 2023, January
Doctor Geneticist - Who Is He And What Heals? Appointment
Doctor Geneticist - Who Is He And What Heals? Appointment



A geneticist is a medical specialist who studies a person's genetic material in order to identify hereditary diseases.

The fact is that each pathology has its own patterns, so, not necessarily, carriers of a defective gene will pass it on to their offspring. In addition, even the carriage of a certain gene does not always mean a disease of the body.

Such a specialty as a geneticist is quite in demand, because in the world, according to statistics, 5% of children are born with various congenital diseases.

The most common are:

  • Hemophilia;
  • Down syndrome;
  • Color blindness;
  • Back Bifida;
  • Dislocated hip.

Hereditary and congenital pathologies significantly reduce the quality of human life, shorten its duration, and require competent medical care. Any married couple can touch upon the problem of giving birth to a sick child, since people carry a load of gene mutations from previous generations, and these mutations also arise in the germ cells of the parents themselves.

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  • When should you turn to genetics?
  • Reasons for turning to genetics
  • How is the appointment with a geneticist?
  • Diagnostic methods in genetics
  • Prevention of hereditary diseases
  • Appointment to a geneticist

When should you turn to genetics?

It is necessary to consult a specialist at the stage of pregnancy planning.

This is especially true for the following couples:

  • Spouses who are faced with the problem of infertility.
  • Women who have a second pregnancy that does not develop.

  • Repeated cases of spontaneous miscarriages.
  • Identified hereditary diseases in the family.
  • The woman is over 35 years old.
  • Fetal malformations that were detected during routine ultrasound screening.

A consultation with a geneticist may be required for the child. So, in pediatrics, science allows you to confirm or deny chromosomal or hereditary diseases in a child. It is imperative that the baby should be brought to genetics if he has a developmental disorder, impairments in physical or psycho-speech development, there are congenital defects or autistic disorders.

Do not think that a consultation with a geneticist is some kind of unusual procedure. It belongs to the category of specialized medical services and is aimed at helping the patient. Its purpose is to identify and prevent hereditary diseases and malformations.

The help of a geneticist allows you to start prophylaxis in a timely manner, including prenatal, to carry out a comprehensive prenatal diagnosis of the fetus, if there is a genetic risk of child development. If congenital anomalies are confirmed, then a geneticist can give a preliminary forecast of the development and life of the child. Perhaps, the tactics of managing a pregnant woman will be changed, measures will be taken to perform a therapeutic or surgical correction of the revealed violations.

Reasons for turning to genetics

Reasons for turning to genetics
Reasons for turning to genetics

An obstetrician-gynecologist is the doctor who most often sends married couples to a geneticist for consultation, pediatricians and neonatologists are specialists who recommend a geneticist's consultation to children and newborns.

The reasons for going to a geneticist may be as follows:

  • Primary infertility;
  • Primary miscarriage;
  • Stillbirth or miscarriages;
  • A family history of congenital and hereditary diseases;
  • Conclusion of marriage between close relatives;
  • IVF and ICSI procedure planning;
  • Unfavorable course of pregnancy with the risk of chromosomal pathology;
  • The likelihood of a congenital malformation (based on ultrasound results);
  • Postponed acute respiratory viral infections, taking medications, occupational hazards, as negative factors affecting the course of pregnancy.

How is the appointment with a geneticist?

A patient who comes for a consultation will need to go through several stages:

  • Clarification of the diagnosis. If there is a suspicion of a hereditary pathology, the doctor will use various research methods to refute or confirm this suspicion: biochemical, immunological, cytogenetic, genealogical, etc. In addition, it will be necessary to study the family history, identify data on the pathologies available to the closest relatives. It is possible that a more thorough examination of sick relatives will be required.
  • Forecast. At this stage, the doctor will explain to the family seeking help the nature of the identified disease. Directly the forecast is based on a certain type of inheritance - monogenic, chromosomal, multifactorial.
  • The conclusion is issued to patients in writing, which indicates the health prognosis for the offspring of a particular family. The doctor assesses the risks of having a sick child and informs the spouses about it.

  • The geneticist's recommendations boil down to the fact that he gives advice on whether the family should plan the birth of a child, taking into account the severity of the disease, life expectancy and possible risks, both for the health of the baby and for the health of the parents. As for the decision and whether to give birth to a child or not, the spouses will make it independently.

Diagnostic methods in genetics

Diagnostic methods in genetics
Diagnostic methods in genetics

Geneticists in their work use a variety of complex methods to diagnose possible disorders.

Among them:

  • A genealogical method that aims to collect information about the diseases of relatives over several generations.
  • HLA testing or genetic compatibility study. This diagnostic method is recommended for spouses when planning a future pregnancy. In addition, it is possible to study the karyotypes of the husband and wife, analysis of gene polymorphisms.

  • Preimplation study of genetic abnormalities in the development of embryos, which were obtained during IVF.
  • Non-invasive combined screening of serum markers of a woman and a fetus. This method is performed at the stage of childbearing and allows you to identify the existing chromosomal pathologies.
  • Invasive methods of fetal diagnosis are used only when urgently needed. Genetic fetal material is obtained by chorionic biopsy, cordocentesis, or amniocentesis.
  • Ultrasound of the fetus is also a rather informative method and allows you to see gross defects and abnormalities of the fetus. It is performed without fail three times during the gestation period.
  • Biochemical screening is a mandatory procedure for all, without exception, women who are carrying a child. This method allows you to exclude many chromosomal abnormalities, such as: Patau syndrome, Down syndrome, Edwards syndrome, etc.

  • Screening of newborns is performed for the detection of cystic fibrosis, galactosemia, phenylketonuria, congenital hypothyroidism, adrenogenital syndrome. If markers for these diseases are found, then the child is referred to a geneticist, and he repeats the examination procedure. When the diagnosis is confirmed, the doctor prescribes appropriate treatment.

In addition to the above methods, a geneticist is able to establish paternity and motherhood, as well as biological relationship.

Prevention of hereditary diseases

For preventive purposes in genetics, there are three areas:

  • Primary prevention. It boils down to planning childbirth, abandoning it in the presence of high risks of pathology development, as well as improving the human environment.
  • Secondary prevention is reduced to the selection of embryos with defects at the pre-implantation stage. In addition, this includes termination of pregnancy if an obvious pathology is found.

  • Tertiary prevention is aimed at correcting those manifestations that are produced by damaged genotypes.

When a child is born with pre-existing defects, then most often he needs surgical intervention (with congenital defects). Social support and appropriate therapy, as well as lifelong follow-up by a geneticist, are essential for gene and chromosomal abnormalities.

Appointment to a geneticist

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