Ultrasound findings in aneuploidy fetusus: Evaluation of 332 cases

Abstract

Objective:To evaluate the ultrasound findings found on ultrasound examination among cases that had aneuploidy at amniocentesis. Material and Methods:This prospective study was performed at Dicle University, School of Medicine, Department of Obstetrics and Gynecology. 332 cases applied to our department for prenatal diagnosis and amniocentesis (AC) was performed. Of these cases, twenty were found to have aneuploidy evaluated. The factors recorded were; mean age, gestational weeks, AC indications, ultrasound findings (by Toshiba 140A and GE Voluson 730 Pro 4D ultrasound device) and fetal anomalies.Results: 332 cases have had AC by an experienced specialist, in a two year period. The mean age of the cases was 32.20±6.03 years (22-44), and gestational weeks 16. 45±1.46 (13-19). AC indications were; high double and/or triple test with ultrasound findings and abnormal ultrasound findings. In 8 (2.40%) cases there was no reproduction on cell culture. In 14 (4.21%) cases, different types of chromosomal anomalies were detected. In these cases, peripheral blood was taken from the parents and if, at least in one of them this situation was present, this would be accepted as normal. In 20 (6.02%) cases aneuploidy (numerical chromosomal anomalies) were detected and 11 of them (55.00%) were trisomy 21. In all of these aneuploidy cases, different types of ultrasound findings were detected; most of them had multiple ultrasound findings, and some of them had one anomaly. Of all 20 aneuploidy cases; termination of pregnancy was decided in 17 (85%) of them. 3 (15%) of these cases decided to carry on their pregnancy. Of the 3 cases; one baby was delivered spontaneously and live, one had died in utero and labor was induced and the third pregnancy is ongoing. Conclusion:

The assessment of nuchal translucency and serum markers for down syndrome screening with ductus venosus Doppler measurements in the first trimester

“…A second level genetic ultrasound examination was performed on all patients for anomaly screening at 18 -23 weeks. Amniocentesis for chromosomal anomalies was carried out in women who had a high risk according to the first trimester screening or had anomalies in genetic ultrasound, as suggested (16,17). Data were stored and analyzed by SPSS program (Statistical Package for Social Science, release11.0; SPSS, Chicago, IL) for Windows.…”