@conference{
author = "Maksić, Jasmina and Ninković, Dragan and Mitrović-Milosavljević, Mirjana and Mitrović, Predrag",
year = "2011",
abstract = "Daunov sindrom (DS) je najčešća hromozomska anomalija čoveka. Do sada jedini dokazani
faktor rizika za DS kod deteta su godine života majke. U 90% slučajeva klasične trizomije
21 hromozomsko nerazdvajanje odigra se tokom oogeneze. Kod nekih majki dece sa
DS na�����en je visok titar antitiroidnih antitela pa je moguće da autoimune bolesti majke doprinose
hromozomskom nerazdvajanju. U nekim porodicama uočena je sklonost kod majki i
njihovih baka ka hromozomskom nerazdvajanju, što ukazuje na mogućnost citoplazmatskog
nasle�����ivanja predispozicije za trizomiju 21. Tako�����e, ovarijalni ćelijski mozaicizam sa trizomijom
21 dokumentovan je kod majki sa jednim ili više dece sa Daunovim sindromom. Naše
istraživanje obuhvatilo je za 5 godina, 76 slučajeva dece sa citogenetski potvr�����enim DS, od
toga 30 živoro�����enih i 46 indukovanih pobačaja. Na osnovu sačinjenog upitnika praćen je
veći broj parametara na osnovu kojih smo analizirali moguće faktore rizika koji ukazuju na
Daunov sindrom kod ploda. Rezultati pokazuju da je u 94,7% slučajeva Daunov sindroma
razlog bila klasična trizomija 21, i da majke mla�����e od 35 godina učestvuju sa 73,4% u populaciji
živoro�����ene dece sa DS. Prisutna je povezanost broja prethodnih trudnoća i spontanih
pobačaja sa većim rizikom za DS kod ploda. Najčešća indikacija za prenatalnu dijagnozu
bile su godine života majke. Nedelja gestacije u kojoj je postavljena dijagnoza DS kod
ploda bila je u proseku izme�����u 23. i 35., što ima za posledicu prekid trudnoće kasnije kada
je rizik veći. Daunov sindrom kod nas i dalje ostaje aktuelan društveni, psihološki, sociološki,
kao i značajan problem porodice sa decom sa Daunov sindromom., Down syndrome (DS) is the most common chromosome anomaly in humans. The only
risk factor for DS proven so far is the maternal age. In 90% of classic trisomy 21
chromosomal nondisjunction takes place during oogenesis. Some mothers of DS children
were found to have high antithyroid titers so one would assume that mother’s autoimmune
diseases contribute to chromosomal nondisjunction. Within some families there is the
tendency in mothers and their grandmothers towards chromosomal nondisjunction, which
brings out the possibility of cytoplasmatic inheritance of predilection for trisomy 21.
Furthermore, ovarian cellular mosaicism with trisomy 21 was documented in mothers with
1 or more children with Down syndrome. During 5 years we investigated 76 children with
cytogenetically proven DS, 30 of those being liveborn, and 46 with induced abortion. The
special questionnaire was made to monitor many parameters by which we analysed
possible risk factors which suggest Down syndrome in fetus. The results show that classic
trisomy 21 was in 94,7% cases, and that mothers younger than 35 years of age make 73,4%
in the population of liveborn children with DS. There is a correlation between previous
pregnancies and spontaneous miscarriages with a higher risk for DS in a fetus. The most
common indication for prenatal diagnosis was maternal age. The mean week of gestation
when the diagnosis of DS was made was 23-35, which meant that pregnancies were
terminated later when the risk is higher. In our country Down syndrome remains acute
social, psychological, sociological as well as important problem for families with DS
children.",
publisher = "Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation",
journal = "Zbornik radova - 5. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Zlatibor, 24-27. septembar 2011",
title = "Faktori rizika za Daunov sindrom, Risk factors for Down syndrome",
pages = "456-449",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_4422"
}
