Rus Articles Journal

I to the geneticist would go

Which of future parents does not dream that the child inherited from them all best. For example, abilities to the exact sciences and ear for music. There is a wish to transmit to the kid hereditary diseases, on the contrary, to nobody. How to be insured from it? Having addressed for council geneticists.

the First steps

the Married couples planning the child`s birth have to know

that in Russia exist free the physician - genetic consultations which are controlled by the Ministry of Health. They are in each regional city, especially in the capital. The direction on reception to the geneticist future mother will be given in a regional maternity welfare unit. Now in many non-state clinics suggest to get advice of the geneticist and to pass the inspections recommended to them - without any direction, but for money. So each family preparing for appearance of the successor can choose suitable option.

Before visit to the geneticist should ask parents, grandmothers, grandfathers and other relatives on cases of various diseases of your ancestors known for it, including diabetes of the great-grandmother or nervous breakdown of the three times removed uncle. It is necessary to remember or take an interest whether you had in a family cases of infertility, children`s disability, repeated abortions at women, mental diseases and congenital anomalies, incestuous marriages.

Going to consultation, it is better to take with itself the held medical documentation - the map from policlinic and results of inspections. It is possible to bring just in case and family photos.

should answer with

On reception at the geneticist the numerous questions beginning with words “But whether was at you in a sort...“ . The first visit is always followed by drawing up a family tree. For this purpose all family members will be designated special badges, numbered: generations - the Roman figures, members of generations - Arab. The graphic representation will be added with short record about each your relative - “legend“. The detailed “genetic tree“ which is clearly demonstrating a picture of family health will turn out.

“Striped“ chromosomes

At a stage of planning of pregnancy in case of repeated abortions or infertility to spouses usually recommend to

research of a karyotype - a totality of chromosomes. If in a family there is already a child with deviations, this procedure is simply necessary. But experts consider what does not prevent to conduct such research to each couple which plans the birth of the kid. This method is universal, does not demand big expenses and efforts, and, above all - allows to define the majority of the most widespread chromosomal diseases.


For the analysis need cages with high frequency of division - in this case leukocytes. To receive them, take blood from a vein from future parents. Two weeks of a cage “grow“ in vitro; at a certain stage of division - a metaphase - they are “slowed down“ by addition of special poison. Enter dyes into cages, and chromosomes get cross coloring. Experts compare alternation of strips to a standard - photos of chromosomes of absolutely healthy person. Damage is determined by change of drawing of chromosomes.

That the trouble did not repeat

What inspections are appointed if in a family there is already a child with features? In each case - differently. For example, the kid has a Down syndrome. Whether the second child with the same pathology can be born at couple? The answer is ambiguous: everything depends on a disease form at the senior. There is a usual form of a syndrome which reason - existence of an excess twenty first chromosome. It is a trisomiya 21 which meets in 95% of cases. If it is diagnosed, the risk of the birth of the second child with a Down syndrome is not higher, than at any other married couple. But there is a translocational form of a disease caused by an arrangement of one chromosome on another. The twenty first is as if imposed on the twenty second or twenty first - on another the twenty first. Most often the reason of such changes - hereditary damages therefore research of the chromosomal device of mother, and sometimes and the father is necessary.

Other situation. The child has a fenilketonuriya - the disease connected with violation of an exchange of amino acids which leads to neurologic frustration and intellectual backwardness. Means, both mother, and the father - carriers of a pathological gene. When planning the second pregnancy it is necessary to carry out molekulyarno - genetic research.

two options of a mutation of a gene Exist. If the kid inherited two genes with an identical mutation, diagnose a fenilketonuriya for him. But sometimes in one gene there are two different mutations: one from mother, another from the father. The child will have a fenilketonuriya too, but in easier form, than in the first case. For diagnostics take blood from mother and the father and reveal what mutations are carried by it and what - it. Depending on it it is possible to predict probability of the repeated birth of the sick child.

If parents have diseases which are not belonging to the class hereditary of research will allow to reveal instability, instability of the chromosomal device. In a similar situation of mother for pregnancy it is necessary to behave extremely carefully, to avoid any radiation exposure, for example X-rays or radiations of the microwave oven.

Competent planning

Even absolutely healthy parents from a faultless family tree are not insured by

from the child`s birth with pathologies. Every tenth inhabitant of the planet - the carrier of any “bad“ gene. But in most cases deviations do not arise as the human body is quite reliably protected. Genes are located in cages in pairs, each cage bears a double set of chromosomes. The child inherits one half from mother, another - from the father. And if one of parents gives to the kid the “wrong“ gene, and another - “correct“, the hereditary disease will not arise. The healthy gene will suppress pathological.

But sometimes two meteorites fall in one funnel: when both parents “carry“ a pathological gene, the probability of the birth of the sick child is high. In this case are inherited a fenilketonuriya and mukovistsidoz - the defeat of glands of external secretion leading to heavy violations of functions of respiratory organs and zheludochno - an intestinal path.

That is why doctors - geneticists show close attention to related marriages: the probability that two identical “wrong“ genes will meet sharply increases. Any person does not know whether he has a pathological gene. Does not know until, yet there will not take place inspection.



to Future parents it is possible for

and it is necessary to carry out prevention of congenital malformations of the child. Abroad security measures are taken without fail. The woman who plans pregnancy in two months prior to alleged conception begins to accept the preparations containing folic acid.

it is desirable to be observed by

at the obstetrician - the gynecologist even before pregnancy. Expecting the kid, it is necessary to pass ultrasonic inspection three times. Doctors - geneticists conduct also biochemical research of markers (from fr. marquer - a mark) fruit pathologies - special proteins which are produced in embryonic fabric, such as alfafetoprotein, a horionichesky gonadotrophin, ingibin. Increase of their level in blood of the pregnant woman does not speak about development in the child of a certain disease, but signals: there is pathology, more profound inspection is required. For example, blood test of a fruit.

It is possible, it is necessary to carry out a biopsy or amniotsentez - researches of amniotic liquid which is taken away, puncturing mother`s peritoneum. These are invasive methods of research. Long time was considered that they are unsafe and quite traumatic for the woman. But even earlier the risk of complications like premature interruption of pregnancy made no more than one percent. And now the medicine evolved dramatically forward: the latest ultrasonic devices allowing to conduct researches of amniotic liquid are used.


For secure


In our country each future mother on term of 12 weeks of pregnancy showed blood test on definition of a Down syndrome at a fruit. To reveal risk of development of this disease, as well as a great number of others, it is possible by means of ultrasonic research.

- it is obligatory for

To the geneticist if...