%0 Journal Article
%T THE PRENATAL RISK ASSESSMENT OF TRISOMY 21 (DOWN SYNDROME)
%A Demetra Socolov
%A R Socolov
%A Julieta Maria Puiu
%J Jurnalul Pediatrului
%D 2004
%I Fundatiei Profilaxis
%X The chromosomal abnormalities (aneuploidies) have a frequency of 1 in 250 live new borns, and 1/3 of them are represented by the Down syndrome (1).This syndrome was described the first time in 1866 by Langdon Down, and one of the elements his description underlined was the thickened skin (Ą°the skin seems too large for their bodiesĄ±). In 1966, 100 years after the original essay of Down, it became possible to diagnose the trisomy 21 prenatally by the karyotype of cultured amniotic fluid cells. Therefore, it was demonstrated that the syndrome is produced when either a whole or a part of the long arm of chromosome 21 is present in three copies instead of two. This can occur as a result of three separate mechanisms: non-dysjunction (95% cases), translocation and mosaicism.As this aneuploidy not only is the most frequent, but also it causes one third of the severe mental retardation in children, itsĄŻ screening became of outmost importance. But, as an amniocentesis in every pregnancy would not have the economic efficiency, as well as ethical and medical support, the question of individualising a risk group arises.This paper tries to evaluate different risk factors, in the perspective of their importance in the clinical decision.
%K chromosomal abnormalities (aneuploidies)
%K trisomy 21
%K mosaicism
%U www.jurnalulpediatrului.ro