{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T04:10:25Z","timestamp":1745554225265,"version":"3.40.4"},"reference-count":47,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gyn\u00e4kol Geburtshilfliche Rundsch"],"published-print":{"date-parts":[[2005]]},"abstract":"<jats:p>Es ist angesichts der heutigen Datenlage offensichtlich, dass im 1. Trimenon ein sehr effizientes Screening auf Chromosomenanomalien durchgef\u00fchrt werden kann. Prospektive Studien an insgesamt 200\u00a0868 Schwangerschaften, darunter 871 Feten mit Trisomie 21, haben gezeigt, dass bei einer Falsch-positiv-Rate von 4,2% eine Messung der Nackentransparenz 76,8% der Feten mit Trisomie 21 identifizieren kann. Kombiniert man die Messung der Nackentransparenz mit der der m\u00fctterlichen Serumkonzentrationen von freiem humanem \u03b2-Choriongonadotropin und \u00abpregnancy-associated plasma protein A\u00bb, ist die Entdeckungsrate 87,0% bei einer Falsch-positiv-Rate von 5% (prospektive Studien an insgesamt 44\u00a0630 Schwangerschaften mit 215 Feten mit Trisomie 21). Zurzeit werden weitere Hinweiszeichen auf Down-Syndrom im 1. Trimenon untersucht, wie das Fehlen des fetalen Nasenbeins, die Maxilla und das Blutflussmuster im Ductus venosus. Bekannte Hinweiszeichen auf Trisomie 13 und 18, die bereits im 1. Trimenon sichtbar sind, sind Megazystis, Omphalozele, Polydaktylie und Holoprosenzephalie. Die meisten Schwangeren bevorzugen ein Screening im 1. im Vergleich zum 2. Trimenon. Es sollte daher jeder Schwangeren eine entsprechende Untersuchung im 1. Trimenon angeboten werden. Von grundlegender Bedeutung f\u00fcr die Effektivit\u00e4t des Screenings ist, dass die Untersucher entsprechend ausgebildet sind und dass die Ergebnisse der Ultraschalluntersuchungen und der Laboruntersuchungen einer regelm\u00e4ssigen externen Qualit\u00e4tskontrolle unterzogen werden. In \u00d6sterreich besteht ein breiter Konsens, nach den Richtlinien der Fetal Medicine Foundation vorzugehen.<\/jats:p>","DOI":"10.1159\/000083783","type":"journal-article","created":{"date-parts":[[2005,4,6]],"date-time":"2005-04-06T15:01:56Z","timestamp":1112799716000},"page":"86-92","source":"Crossref","is-referenced-by-count":0,"title":["Screening auf Chromosomenanomalien im ersten 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