The Impact of First Trimester Screening and Early Fetal Anomaly Scan on Invasive Testing Rates in Women with Advanced Maternal Age

Zusammenfassung

Ziel: Untersuchung der Akzeptanz von Ersttrimesterscreening und früher Fehlbildungsdiagnostik bei der Entscheidung zur invasiven Diagnostik von Schwangeren ≥ 35 Jahre. Material und Methoden: Retrospektive Analyse von 2003 – 2006 bei 13 268 Frauen ≥ 35 Jahre mit Einlingsschwangerschaften und 3133 invasiven Eingriffen zur Detektion der Trisomie 13, 18, 21 in 2 Gruppen. Gruppe 1: Alter ≥ 35 Jahre als alleinige Indikation, Gruppe 2: zusätzliche sonografische Marker und/ oder auffällige mütterliche Serumparameter. Zusätzlich wurde für den Zeitraum 1998 – 2006 bei 31 076 Schwangeren ≥ 35 Jahre mit einer gezielten Ultraschalluntersuchung zwischen 11 + 0 – 13 + 6, 14 + 0 – 17 + 6 und 18 + 0 – 22 + 6 Schwangerschaftswochen (SSW) die Veränderung der Akzeptanz unterschiedlicher Untersuchungszeiträume bestimmt. Ergebnisse: Nach 3133 Eingriffen wurden 102 Aneuploidien diagnostiziert. Der Anteil erkannter Aneuploidien lag in Gruppe 1 bei 0,86 % und in Gruppe 2 bei 4,9 %. Trotz einer signifikanten Abnahme invasiver Eingriffe über den Untersuchungszeitraum 2003 – 2006 (– 17 %) änderte sich die Detektionsrate nicht. Sie lag zwischen 90 – 93 %. Die Anzahl der Frauen mit einem Alter ≥ 40 Jahren nahm im Zeitraum 1998 – 2006 signifikant zu (+ 2,8 %).Wir beobachteten eine Zunahme der Untersuchungen zwischen 11 + 0 – 13 + 6 SSW (+ 8 %), eine Abnahme zwischen 14 + 0 – 17 + 6 SSW (–10,3 %) und keine Änderungen bei 18 + 0 – 22 + 6 SSW. Schlussfolgerung: Immer mehr Schwangere ≥ 35 Jahre nutzen die Möglichkeit einer individuellen Risikoabschätzung bei der Entscheidung zur invasiven Diagnostik. Dieses Vorgehen reduziert die Anzahl der Eingriffe und damit iatrogener Aborte gesunder Feten bei konstanter Detektionsrate und früherer Diagnose der Aneuploidien.

Abstract

Purpose: To evaluate the acceptance of noninvasive screening for trisomy 13, 18, 21 and the impact on invasive testing rates in women at an age ≥ 35 years. Materials and Methods: In a retrospective analysis from 2003 – 2006 including 13 268 women ≥ 35 years old with singleton pregnancies and 3133 invasive procedures, we evaluated the prenatal detection rate of aneuploidies in two cohorts. Group 1: advanced maternal age as sole indication, group 2: additional abnormalities and/or suspicious maternal serum parameters. In an additional analysis from 1998 – 2006 including 31 076 patients ≥ 35 years, we investigated the shift in time of sonography at 11 + 0 – 13 + 6, 14 + 0 – 17 + 6 and 18 + 0 – 22 + 6 gestational weeks (gw). Results: Among 13,268 women, 3133 invasive tests were performed with a significant decrease over time (–17 %). 9 % of women chose invasive testing after a normal ultrasound (group 1, n = 1,267) and 14 % in the case of additional markers (group 2, n = 1,866). 102 cases of aneuploidy were disclosed. The proportion of detected aneuploidies was 0.86 % in group 1 and 4.9 % in group 2. No change in the overall detection rate (90 – 93 %) was observed. The number of patients ≥ 40 years increased significantly (+ 2.8 %). There was an increase in examinations at 11 + 0 – 13 + 6 gw (+ 8 %), a decrease at 14 + 0 – 17 + 6 gw (–10.3 %) and no significant change at 18 + 0 – 22 + 6 gw over time. Conclusion: Increasing numbers of women ≥ 35 years of age rely on the individually adjusted risk figure to make a decision about invasive testing. The application of these selective procedures can reduce the rates of invasive testing with fewer losses of normal fetuses and led to an earlier diagnosis of aneuploidies.

Key words

advanced maternal age - prenatal ultrasound - invasive prenatal diagnosis - aneuploidy screening

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