The correlation fish karyotyping in prenatal diagnosis

Abstract

Antenatal detection the chromosome abnormalities in high risk pregnancies and correlation between
karyotype analysis and FISH (Fluorescent In Situ Hybridization). Amniotic fluid karyotyping and FISH have been
offered to pregnant women with genetic risk, using the standard method and GTG banding techniques. Were found 22
abnormal karyotypes: 13 cases with numerical abnormalities (13 homogenuous aneuploidies: trisomies – 3 cases of
47,XX+21, 3 cases of 47,XY+21; 2 cases of 47,XY+18, 1 case of 47,XXY, 2 cases of 47,XXX and monosomies – 1
case of 45,X0; 1 triploidy - 69 XXX), 1 structural abnormality, one case of 46, XY, der(14;21)(q10;q10) +21) and 8
normal variants (3 cases of 46, XX inv(9)(p11;q13); 1 case with 46,XY inv (3)(p11;q11.2); 2 cases with 46,XX
inv(3)(p11; q11.2), 1 case 46,XY inv(3)(p11; q11.2), and 1 case of 46,XY inv (3)(p11;q11.2) inv(9)(p11;q13)). This
report confirms the importance of karyotyping and FISH in prenatal diagnosis, FISH being much more important for
prenatal diagnosis due to the short time of results.