Modern families take procreation planning very seriously. Preparing to acquire the most important and responsible status in life - the parent - requires the most scrupulous approach. Of course, we are talking about the he alth of expectant mothers and fathers. A comprehensive medical examination, which necessarily includes genetic tests, will help to understand this issue.
When planning a pregnancy, not only women are sent for their delivery, which in the recent past, doctors, whispering, called "old-timers." Today, scientists in the field of genetic engineering have come to the conclusion that women over the age of 25 should also undergo such diagnostics.
Basic genetic tests for pregnant women
During gestation, it is extremely important to keep placental lactogen under control. Genetic analysis when planning pregnancy will be able to determine its level - it depends on it the probability of spontaneous miscarriage, the further development of pregnancy, as well as its negative course in the formfetal hypotrophy or complete fading.
It is important to determine the chorionic gonadotropin. The level of this hormone allows you to determine pregnancy as early as possible. Such a genetic analysis when planning a pregnancy (its price is not so high as to risk your own he alth and the life of the future crumbs) is carried out in blood serum.
The results of the study will help the obstetrician-gynecologist to determine the degree of threat of termination of the expected pregnancy and the likelihood of complications in the uterus.
The role of geneticists in pregnancy planning
Genetic tests when planning pregnancy include other studies that allow you to adequately assess the risks of various pathologies that may arise from the moment of conception and embryo formation. The cost of such studies is sometimes the only obstacle to their passage, but the benefits that they bring in themselves can hardly be overestimated.
The question of the usefulness of the unborn baby worries not only the mother who bears him for 9 months under her heart. On average, every 20th child is born with hereditary diseases and intrauterine developmental anomalies. Unfortunately, no married couple can insure their future descendant from acquiring any vices. It is a priori impossible to prevent this or that deviation at the level of DNA cells. In addition, the problem is also the fact that the genetic analysis of blood performed duringpregnancy planning, showing acceptable results, sometimes does not guarantee a positive development of events: the likelihood of new mutations in the germline parent cells, including the risk of normal genes turning into pathological ones, always remains.
Who should get genetic testing first?
The advantages of timely medical genetic counseling and prenatal diagnostic techniques are assistance in planning pregnancy and preventing the birth of a baby with incurable pathologies.
Not many young families who dream of becoming parents in the near future know what genetic tests they will have to undergo when planning a pregnancy. In addition, certain groups of people need to be examined long before the onset of pregnancy without fail. These categories include men and women who are at genetic risk, namely:
- family couples where at least one of the spouses has a history of serious diseases in the family;
- one of the spouses, in the history of whose family tree there were cases of incest;
- women who have had miscarriages, stillborn babies, or are diagnosed with infertility without a specific medical diagnosis;
- parents exposed to radiation, harmful chemicals;
- women and men who consumed alcohol or teratogenic drugs during conception that could potentiallycause fetal deformity.
At what age should you be tested for chromosomal abnormalities?
How much genetic analysis costs when planning a pregnancy, both women under 18 and those over the age of 35, and men who have crossed the 40-year threshold know how much. As already mentioned, the risk of mutations in individual genes and DNA cells increases in arithmetic progression with each passing year.
Genetic tests when planning pregnancy should ideally be given to all couples without exception.
Today, the multiplicity of hereditary ailments transmitted from generation to generation is the main reason for the need to undergo research for all young couples, without exception. In addition, modern geneticists continue to discover more and more new diseases every year without stopping.
Genetic testing is an important step in pregnancy planning
Naturally, it is impossible to foresee in the body of future parents all the genes that have the potential for mutation. Not a single genetic analysis when planning a pregnancy can give an absolute guarantee that a particular couple will have an absolutely he althy baby without hereditary abnormalities. Meanwhile, it is vital to clarify the degree of risk for theoretical and actual preparation for pregnancy.
So, potential parents asked for help from the medicalgenetic center. How will the specialists conduct the examination, and what genetic tests will they need to pass without fail when planning a pregnancy? The curiosity of many will help satisfy the following.
Important points for geneticists
The first stage of the examination is medical genetic counseling by a specialist, during which the doctor carefully and in detail studies the features of the pedigree in the family of each potential parent. The factors of increased risk for the unborn child deserve special attention of geneticists. They are:
- genetic and chronic diseases of mom and dad;
- drugs used by prospective parents;
- conditions and quality of life, living conditions;
- features of professional activity;
- environmental and climate aspects, etc.
Strange as it may seem, answers to ordinary blood and urine tests that are familiar to everyone, the conclusions of some highly specialized specialists (endocrinologist, neuropathologist, etc.) play a significant role for geneticists. Often, specialists prescribe karyotype diagnostics for couples. Determining the number and quality of chromosomes in future mothers and fathers is extremely important in case of incestuous marriages, miscarriage of several pregnancies, diagnosed but unexplained infertility.
How much does genetic analysis cost?
The cost of genetic analysis of pregnancy planning, called "XLA-Typing", in various Moscow medical genetic centers ranges from 5000 to9,000 rubles, depending on the breadth of the spectrum of studying predisposition to pathologies.
The completed study will help the geneticist to draw objective conclusions about the likelihood of exposure to negative factors. Genetic analyzes when planning pregnancy will make it possible to make an individual, relatively accurate forecast about the he alth status of the future crumbs. It is a study of this type that will help to say about the expected risk of a child developing specific hereditary ailments. The doctor will be able to give useful recommendations that should become the basis for a married couple who dream of becoming parents of a full-fledged he althy toddler.
Risks of having genetically ill children
In addition, each analysis is endowed with a value that determines the risk in the presence of a particular predisposition. Genetic diseases in pregnancy planning, or rather the likelihood of their occurrence in the future crumbs, are measured as a percentage:
- At low risk (up to 10%), parents have nothing to worry about. All analyzes indicate that this couple will have a he althy child in all respects.
- With an average rate (from 10 to 20%), the risk increases, and the possibility of having a sick baby is almost equal to the probability of having a full-fledged child. Such a pregnancy will be accompanied by careful prenatal monitoring of the pregnant woman: regular ultrasound, chorionic biopsy.
- At high risks (from 20%), doctors will recommenda married couple to refrain from conception and prevent pregnancy. The chance of having a baby with a genetic disease is much higher than the chance of having a he althy baby. As an alternative solution in this situation, specialists can offer the couple to use a donor egg or sperm in accordance with the IVF program.
Research in early pregnancy
Parents should not despair in any case. The chances of having a completely he althy baby remain even at high risk. To understand what genetic analysis gives when planning a pregnancy, you should pay attention to laboratory diagnostic measures for malformations in the initial stages.
Almost from the moment of the long-awaited pregnancy for many parents, you can find out if everything is in order with the fetus? You can find out if the baby has any hereditary genetic diseases in utero.
Methods of genetic diagnosis of pregnant women
Doctors are able to use many techniques and methods for objective diagnosis of a pregnant woman and fetus. Indeed, the presence of malformations and developmental anomalies can be judged long before the baby is born. With each year of progression in ultrasound and laboratory technology, the chances of accuracy increase. In addition, in the past few years, doctors have given priority to diagnostic methods such as screening. It represents a "large-scale" electoralsurvey. Screening is mandatory for all pregnant women.
Everyone needs to take genetic tests
Why is it necessary to take genetic tests even for those who are not at risk? The answer to this question is due to disappointing statistics. For example, only half of children born with Down syndrome to mothers over the age of 35. Among the remaining half of the women in labor, there are many young women who have not even reached the age of 25. In women who became mothers of children with chromosomal pathology, only 3% had an entry in the exchange card about the birth of previous babies with similar diseases. That is, there is no doubt that genetic diseases are not a consequence of the age of the parents.
Avoid passing tests to detect chromosomal pathologies in the fetus or a predisposition to the occurrence of genetic abnormalities in the future, not yet conceived baby should not be. To determine the presence of any diseases at an early stage of their development means to get ahead of the pathology. Given the possibilities of modern medicine, it would be unfair and irresponsible towards him not to take such a step towards the long-awaited baby.
