Changing Attitudes towards Non-Invasive Aneuploidy Screening at Advanced Maternal Age in a German Tertiary Care Center

Zusammenfassung

Zielsetzung: Untersuchung der Einstellung zu einer gezielten Ultraschalldiagnostik im ersten und zweiten Trimenon bei Schwangerschaften mit mütterlichem Alter ≥ 35 in einem Vierjahreszeitraum, sowie Vergleich der Rate an invasiver Diagnostik. Methode: Retrospektive Analyse von 2657 Einlingsschwangerschaften mit Ultraschalluntersuchungen in der 11. - 14., 15. - 18. und 19. - 23. Schwangerschaftswoche (SSW). Ergebnisse: In den vier Jahren wurde ein Anstieg der Patientenzahlen um 36 % beobachtet. Während der Anteil an Ersttrimesteruntersuchungen um 13 % zunahm, waren die Untersuchungen in der 15. - 18. SSW rückläufig (- 14 %). Der Anteil der Untersuchungen in der 19. - 23. SSW blieb konstant. Insgesamt wurde bei 78 (2,9 %) Feten eine Aneuploidie diagnostiziert. Von den Feten mit autosomalen Trisomien wiesen 92 % (56/61) sonographische Marker auf. Der prozentuale Anteil der in der 11. - 14. SSW diagnostizierten Aneuploidien stieg von 14 % in der ersten auf 49 % in der zweiten Studienhälfte (p < 0,01). Wir beobachteten einen signifikanten Rückgang an invasiver Diagnostik von 54 % auf 37 % (p < 0,01) bei Frauen mit einer unauffälligen Ultraschalluntersuchung. Schlussfolgerung: Wir stellten eine zunehmende Akzeptanz der gezielten Ersttrimesterdiagnostik mit dem potentiellen Vorteil einer frühzeitigen Diagnose einer fetalen Aneuploidie fest. Des weiteren verzeichnen wir einen jährlich wachsenden Anteil an Frauen, die eine gezielte Ultraschalldiagnostik als Entscheidungshilfe für oder gegen eine invasive Pränataldiagnostik nutzten und einer primär invasiven Diagnostik eher kritisch gegenüberstehen.

Abstract

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.

Genetische Ultraschalldiagnostik - Spätgebärende - gezielte Ultraschalldiagnostik im ersten und zweiten Trimester - Nackentransparenz - invasive Pränataldiagnostik - Chromosomenanomalien

Genetic sonography - advanced maternal age - first and second trimester targeted ultrasound - nuchal translucency - invasive prenatal diagnosis - chromosomal abnormalities

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