Consultation of a geneticist in the planning of pregnancy

Sooner or later, in any family, a decision is made to give birth to a child. And if this step is weighed and thought out, and the approach is responsible, then both parents undergo a medical examination so that the child born is healthy. After all, you always want the child to take only the best from you, but nobody wants to pass on their illnesses to the baby. It is genetic analysis in the planning of pregnancy that will help you minimize the risk of having a child with any hereditary disease.

First steps


In any regional city and in the capital of the Russian Federation, there are medical genetic consultations in which you can get a doctor's consultation free of charge. You can take a referral from your gynecologist. There are also a large number of private clinics where one can get specialist advice without any direction, but not for free. You will only have to decide which option is more suitable.

Before visiting a specialist, it is worthwhile to ask your relatives about their life and relatives well. What harmful factors met in their life path and when, what way of life they led before your birth. Find out all the information about relatives: uncles and aunts, grandmothers and grandfathers, brothers and sisters, cousins, cousins ​​and second cousins. The more information there is, the more complete picture of possible hereditary diseases you will have.

Important information will be also about cases of infertility in your family, the presence of miscarriages and incestuous marriages, disability and nervous disorders. It is not superfluous to grab a personal card from the polyclinic with the results of the tests for the first consultation by a geneticist. Since two children participate in the conception of the child, information is needed from both mother and father.

To whom consultation of a genetics is simply necessary


Even a completely healthy parent can have a child with different genetic abnormalities.


But there is a group of people who experience the occurrence of genetic abnormalities more often, such people include the following:

  • Age of parents: mother is more than 35, father is more than 40.
  • A close-bred marriage. Even cousins ​​and sisters are already considered at risk, they are accumulating genetic abnormalities. A second cousin is already less dangerous, although the risk is not excluded.
  • Birth of the previous child with vices or abnormalities, even if this child is not common.
  • Genetic pathology in one of the parents or both. Even the suspicion of its presence already puts you at risk.
  • Presence among close relatives of genetic diseases.
  • Presence in the anamnesis of a maternal miscarriage, a frozen pregnancy or the birth of a dead child.
  • In different periods of life, one of the parents was exposed to radiation exposure or exposure to harmful chemicals.
  • A couple of years can not conceive a child (more than a year).
  • The conception period presumably falls out with the use of medications that are contraindicated in pregnancy.

If you belong to one of the groups, then the consultation of the geneticist in planning pregnancy is a must. Only a doctor can know what factors can lead to the appearance of genetic pathologies and how they will affect your child's health.

At the reception of a geneticist

The first thing the doctor does is build a detailed genetic tree, through which the whole picture of the family's health is clearly visible. The more detailed and honest you tell about your relatives, the better for you.

The second stage is assigned to a detailed study of the health of both mother and future father for various specialized specialists - endocrinologist, otolaryngologist, neurologist and others.

The third stage of the genetic examination consists in the study of the complete set of chromosomes in future parents, or the so-called chromosomal analysis of the parents' genetics. It allows to identify all the common diseases associated with chromosome damage.

For the behavior of this analysis, cells with a high fission frequency are needed, ideal for this are leukocytes. They are taken from the venous blood of each of the parents and grown on a nutrient medium for 14 days. At the metaphase (a certain stage of cell division), the erythrocytes "freeze". Then a special dye is injected into the cells, which gives the chromosomes a striped color.

It is these strips that are compared with the photograph of the chromosome of a healthy person. If the pattern does not match, then the chromosomes are damaged, and the damage itself is already analyzed. Simultaneously, it is necessary to exclude pathologies in the semen in men using spermogram. And if there are problems with conception, it is worthwhile to go further and HLA-typing, which helps to determine the compatibility between mom and dad.

Interpretation of results

It should be remembered that genetics is not such an exact science as mathematics. Even modern and precise equipment never gives the chance to predict for a hundred percent, both good and bad. This is due to the fact that today there are thousands of diseases that are caused by genetic abnormalities, and every day it is possible to discover new ones. The genes of parents can be combined in absolutely different ways, and how they will unite in this baby can not be predicted.

Percent Risk Degree of risk Forecast
to 10 % risk is low The risk is minimal, you can safely have a child
from 10 to 20% risk average Continuous monitoring by doctors during the entire pregnancy is required
more than 20% the risk is very high Very likely birth of a baby with various pathologies. It is better to use the IVF method to avoid these problems

Consultation of genetics in pregnancy

If you do not have time to undergo a genetic examination while planning pregnancy, it has come earlier, then do not worry, enjoy waiting for the long-awaited baby. In time, get registered with your gynecologist (in the first trimester).

To date, all future mothers are 11-13 week pregnant genetic screening: ultrasound of the fetus and a blood test for the level of hCG and PAPP-protein. By results of researches it is possible to reveal genetic anomalies of your child, for example, a Down syndrome. If this happens, the woman is referred for additional examinations to confirm the diagnosis.

The second genetic screening is carried out for a period of 16-18 weeks. It consists of another blood test, this time for hCG, the content of estriol and alpha-fetoprotein. Ultrasound is performed at 18-21 weeks. Here, various defects in the development of your baby are excluded.

You can go through at your request genetic analysis of the fetus. It differs little from the analysis of parents, the baby's cells are allocated from the blood of the mother, and the karyotype of the child is determined from them. The cardiocentesis (cord blood sampling) and amniocentesis (sampling of amniotic fluid) are performed according to indications. Based on the results of invasive diagnosis, it is also possible to assess the condition of the fetus and identify genetic diseases.

Remember, a specialist's consultation is just a way of avoiding possible problems. Any result of a genetic examination is not a verdict, it will help you learn about the risks and minimize them as much as possible.