Chromosome Abnormalities in Prenatal Diagnosis

Objective: To investigate antenatal detection the chromosome abnormalities in high risk pregnancies and correlation between karyotype analysis and FISH (Fluorescent In Situ Hybridization). Method: Were analyzed cytogenetic results from a total of 594 cases between 2008-2009. Amniotic fluid karyotyping and FISH have been offered to pregnant women with genetic risk, using the standard method and GTG banding techniques. Results: 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)). The numerical abnormalities have been further verified by FISH analysis. There was a 100% correlation between the results obtained. Conclusion: 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 which is very important for the anxiety and management of the patients in due time.