Objective: To compare the yield of multiple-marker biochemical screening with that of minor fetal anomalies observed on ultrasound for detection of aneuploidy in low-risk patients. Methods: The results of 1,073 amniocenteses performed because of abnormal biochemical screening tests were compared against 197 amniocenteses performed for minor anomalies as detected on level II ultrasound at 15–22 weeks of gestation. Results: False-positive results were observed in about 7% of serum screening patients and in 1.7% of the ultrasound cases. Chromosomally abnormal fetuses were detected in 2% of the amniocenteses performed because of abnormal serum screening and in 2.5% of the cases with ultrasound-defined minor anomalies. Conclusions: Both methods identify patients at risk for abnormal karyotypes. Although the evaluation of serum biochemical markers yielded more false-positive results, it is more suitable than ultrasound for mass population screening.
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