Unfortunately, in our country, going to a geneticist is a rather rare phenomenon than a popular one. Meanwhile, early diagnosis of possible genetic pathologies is very important, especially during the planning of a healthy pregnancy.
Ideally, both partners need to undergo a competent consultation even before the moment of conception. But if this does not happen, doctors refer to the genetics of those pregnant women who have certain indications for this.
Indications for a genetic examination of a pregnant woman are as follows:
1. The mother-to-be is over 35 years of age.
2. The future father is over 40 years old, while the age of the woman does not matter, she can be both young and more mature.
3. The presence of hereditary diseases in a woman, such as finelketonuria, cystic fibrosis, etc.
4. There have been cases in the family in which children were born with:
- hereditary chromosomal pathology;
- congenital abnormalities;
- mental retardation.
5. There have been stillborn babies in the past.
6. In the family, one or both parents have relatives with the above pathologies.
7. Marriage is based on incest.
8. In the past, there were problems with miscarriage in the first trimester.
9. The negative impact of medicines and drugs in the initial period of pregnancy.
10. The pregnant woman was ill and was treated at the very beginning of her pregnancy.
11. Difficult course of pregnancy, constant threat of interruption, which is not amenable to standard therapy.
12. Low water and polyhydramnios.
13. Women who have been examined in the departments of DRT for infertility of partners.
14. Fetal pathology detected during prenatal screening, including ultrasound, biochemical markers, chromosomal, congenital pathologies.
15. The impact of the negative environment associated with professional activities at work.
The above factors are determined by the doctor at the first visit of the pregnant woman, after a detailed conversation and a general examination. The task of each expectant mother is to give the most complete information about her family and the characteristics of her personal life.
This will help the specialist in time to determine the predisposition to certain genetic abnormalities and try to correctly correct the process of managing a complicated pregnancy.
