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Просмотр полной версии : Dear Andrey! Please you respond to my question. Tell or Say pozhalujs...



LENA
19.08.2004, 17:01
Dear Andrey!
Please you respond to my question.
Tell or Say please at the husband from first marriage there is a child with a syndrome of the Down. Whether there is an opportunity of repetition of such syndrome (we plan the child). I am healthy and with genetics on my line it's OK. And what analyses are necessary for making and with whom prkonsultirovatsja to be assured or confident, what is it to not repeat. To me of 25 years, to the husband 47. Thanks in advance for the answer.

Andrey
21.08.2004, 12:48
The dear Lena. Illness or disease of the Down is connected with disturbances mejoza at formation of ootids at mother. In rezulate it or this, the ootid with superfluous 21 j a chromosome (t turns out " not normal ". e instead of 23 at it or her 24 chromosomes). For today these disturbances first of all connect or bind with the years mothers - the mother - the more chances to have is more senior than the child with a syndrome of the Down. At your age there is nothing to experience - as early as years 10 your chances will be gde-that 1 bolshnj the child on 10, but after 32 35 years chances start to grow and by 40 42 years stanovjatja gde-that 1 on 25. Communication or connection of a birth of the child with a syndrome of the Down and age of the man is not proved and even if she is, so weak, that it is not necessary to experience (in 93 % of all cases, ishnjaja 21 I the chromosome comes from mother and only to 7 % of cases from the father iz-that the ootid has been impregnated by a spermatozoon with 24 chromosomes). Now as to genetics. Now in the literature data about presence of a genetic component in it or this zaboolevanii start to appear. But again taki - tolko from mother. So, have been carried out researches, which ustanavili communication or connection (though also weak, t. To. Researches are spent on small sample) tsitoplazmaticheskoj nasdstvennosti and a syndrome of the Down. In a cell there are two genoma - one nuclear (we have this in view of when we speak about genetics, heritability, etc. - one repetition of it or this genoma from mother, another from the father), and another mitohondrialnyj which is inherited only from mother (a mitochondrion are in tsitopalzme, therefore and is called tsitoplazmaticheskaja a heredity). To mitohondrialnomu genomu iz-for detection of communication or connection interest recently increases in mutations of the some people mitohondrialnyh genes and such illnesses or diseases, as a schizophrenia and some other. And so - researches about which I spoke, have shown that in families where there was a child the Down sometimes from another the man the child the Down was born too. Besides if the woman had a child the Down at its or her normal daughter the child with it or this sindromo was born more often, than it should be. e. There is a heritability on a maternal line. Besides recent researches of mutations in gene MTHFR at women have shown communication or connection of some of them with a birth of children with sindrmom the Down (MTHFR, and on russki - MTGFR - a methylene tetragidrofolat the reductase is very important gene responsible or crucial for folatnyj a metabolism; disturbances of this metabolism lead to insults, a birth of children with neurologic diseases, etc. - Acidum folicum which recommend pregnant women is metabolized by a product of this gene). Communications or connections of mutations in this gene at men about a birth of children with a syndrome of the Down it is not revealed.
If your situation was on the contrary - the woman has a child with a syndrome of the Down from one man (especially if the woman young) then another the man can start to worry, tk at the woman can be genetic predraspolozhenost and it or he from it or her too can have a child with a syndrome of the Down.
You now can make always the double test for a syndrome of the Down at a fetus - I think it or him do or make in Russia. A short of the test or dough in the following - on the certain term beremengosti in the beginning study or investigate hormonal balance of bloods and compare to the standard on your age group. If deviations or rejections are not present, with poschti 100 % probability a fetus absolutno normal. If there are deviations or rejections - then chances to give birth to the child with this pathology above, than averages and doctors recommend to do or make the second test - amniopuktsiju. The second test - cytogenetic - is considered or counted with chromosomes at cells of a fetus - whether here the mistake or error cannot be and to you at once will tell or say is sinrdom or that's all right. You only should have in view of, that amniopunktsija it is dangerous enough procedure which in 5 10 % of cases can result or bring either in an abortion, or to destruction of a fetus, or to other disturbances of a fetus (at my friend the child a leg or pinch has pulled during a puncture and the needle has damaged or injured;hurt a malleolus - well that on the child it has not rendered not strongly and special consequences). Talk to your doctor about tests and if you experience make it or him when it will be possible on terms. If pervy the test will show all OK - that and to experience it is not necessary.

Andrey
23.08.2004, 09:52
I am sorry for typing errors in the text:-)

The anonym
26.08.2004, 12:33
It is not forgiven!!!! It is necessary to copy correctly:)

Andrey
29.08.2004, 12:10
Yes I do not copy - therefore and mistakes or errors. And I copy basically from a head:-)

The anonym
30.08.2004, 10:58
Andrjush, I see where from a head and where is not present, do not worry you so:)

Andrey
31.08.2004, 22:34
Yes I basically chyo, not che:-)))

It is class
04.09.2004, 10:15
It is class

Michael
06.09.2004, 21:12
Dear sirs. Risk of invasive or aggressive prenatal diagnostics kolebletsja, depending on term, from 1 up to 5 %. It is risk of an abortion after carrying out of procedure. It is not necessary to frighten people of an opportunity of damage of a fetus at carrying out of operation. It or this cannot be. The person though time spent the given procedure will tell or say to you the same.