첫 임신에서 전좌 다운증후군 태아를 분만한 후 45, XX,t(14q 21q)의 보인자로 판명된 26세의 경산부에서 임신 11주에 자궁경부를 통한 융모채취를 시행하여 전좌 다운증후군 태아를 산전에 진단하였기에 문헌 고찰과 함께 보고하는 바이다.

Down syndrome is by far the most common and best known of the chromosome disorders. Though Down syndrome always involves trisomy for chromosome 21, in about 4 percent of the cases the extra chromosonal material is present not at a separate chromosome but as a translocation of 21 q to another acrocentric chromosome. Recently we made a prenatal diagnosis of translocation 21 trisomy in a fetus whose mother was known as a balanced 14/21 translocation carrier. The diagnosis was made by transcervical chorionic villus sampling at the 11th week of gestation.