Trisomies and other chromosome abnormalities detected after positive sonographic findings
Beke, Aúr.; Papp, C.; Tóth-Pál, Eõ.; Mezei, Gábor.; Joó, József.G.; Csaba, A.; Papp, Zán.
Journal of Reproductive Medicine 50(9): 675-691
2005
ISSN/ISBN: 0024-7758 PMID: 16363756 Document Number: 593252
OBJECTIVE: To evaluate the rate of trisomies and other chromosome abnormalities after positive ultrasound findings in the first and second trimester of pregnancy.STUDY DESIGN: The study investigated chromo- some abnormalities detected in cases with prior abnormal ultrasound findings. During a 10-year period there were 1,907 invasive interventions carried out with the purpose of chromosome analysis. The intervention was genetic amniocentesis in 1,619 cases and chorionic villus sampling in 288.RESULTS: Karyotyping revealed 103 cases (5.4%) of chromosome abnormalities. Abnormalities with subcutaneous edema were examined: abnormal karyotype was found in 20% of cases with nonimmune hydrops, 48.1% of cases with cystic hygroma and 53.8% of cases with nonimmune hydrops and cystic hygroma together, 8.3% of cases with nuchal edema in the first trimester and 5.5% in the second trimester. The incidence of chromosome abnormalities in cases of cerebral anomalies was 6.3% of cases with ventricular dilatation, 3.6% of cases with choroid plexus cysts and 15.9% of cases with other cranial anomalies. Regarding abnormalities of the heart, isolated echogenic intracardiac focus and ventricular septal defects were not associated with chromosome ab-normality, but, in conjunction with other positive ultrasound findings, the incidence of chromosome abnormalities was 7.9% and 26.7%, respectively. Other anomalies of the heart and large blood vessels showed an abnormal karyotype incidence of 18.2%. In cases of unilateral pyelectasis unassociated with other anomalies, the incidence of chromosome abnormalities was 1%. In cases of bilateral pyelectasis or pyelectasis associated with other anomalies, the incidence was 3%. In terms of anomalies of the abdominal wall and abdomen, the incidence of association with chromosome abnormalities was 9.5% in cases of omphalocele, 11.8% in cases of duodenal atresia and 5.7% in cases of echogenic bowel. In cases of short femur and humerus the rate of abnormal karyotypes was 16%.CONCLUSION: Ultrasound plays an important role in prenatal diagnosis. In cases of positive ultrasound findings, karyotyping is reasonable.