Changing attitudes towards non-invasive aneuploidy screening at advanced maternal age in a German tertiary care center

Objective: To evaluate attitudes towards non-invasive aneuploidy screening at advanced maternal age in a German tertiary care centre and to compare the rate of invasive testing over a period of four years. Methods: A retrospective analysis of 2657 singleton pregnancies with targeted first and second trimester ultrasound examination at 11-14, 15-18 and 19-23 weeks' gestation. Results: The number of patients at or beyond 35 years increased by 36% over this period. Concomitant with an increasing proportion of first trimester examinations (+ 13%), a decrease in 15-18 weeks' examinations (-14%), but no changes regarding the 19-23 weeks' examination were observed. A total of 78 (2.9%) abnormal karyotypes were found and 92% (56/61) of the cases with autosomal trisomy had sonographic markers suggestive of foetal aneuploidy. The proportion of diagnosed chromosomal abnormalities at 11-14 weeks increased from 14% in the first half to 49% in the second half of the study period (p < 0.01). We observed a significant decrease in the rate of invasive procedures, especially in women reassured by a normal ultrasound examination(54% versus 37%, p < 0.01). Conclusion: There is an increasing acceptance of first trimester targeted ultrasound examination with the potential advantage of an earlier diagnosis of foetal aneuploidy. Furthermore, we observed annually increasing numbers of women who used the results of the ultrasound examination to guide their final decision about invasive testing, rather than undergo genetic testing as a primary option.