Faktori rizika za Daunov sindrom

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.