Genetic Analysis in Pregnancy with Fetal Pathologic Ultrasound Findings

The aim of this study was to investigate the relationship between fetal abnormal karyotype and fetal abnormal ultrasound examination in pregnancy. A total of 191 women were analyzed for karyotyping after detection of a soft marker or of major malformations at the routine antenatal USG, for the period 2007-2011. A total of 191 amniotic fluid samples were analyzed for chromosome aberrations and the fetal karyotype was abnormal in 24.6% (47/191) of all cases. Among them, 13 cases were with trisomy 21; 5 cases with trisomy 18; 1 case with trisomy 13; 2 cases with triploidy; 7 cases with karyotype of 45, X; 1 case with karyotype 47, XXY; and 18 cases with other abnormal chromosome structures. One hundred and fifty-two karyotyping procedures were done due to the finding of a single sonographic marker. Within this group, 17.1 % of the karyotypes were abnormal. Thirty-nine karyotyping procedures were done due to the finding of a multiple sonographic marker. In this group, 53.8 % of the karyotypes were abnormal. The overall termination rate was 61.7 % (29/47) in cases with a fetus affected by chromosomal abnormalities. Ultrasound examination is important in prenatal diagnosis. We suggest that karyotype analysis should be advised to pregnant women with an abnormal fetus in the ultrasound examination.