{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T16:02:49Z","timestamp":1787587369229,"version":"build-2736575974"},"reference-count":80,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ultraschall Med"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:p>Diagnostische Punktionen (Amniozentese, Chorionzottenbiopsie und Fetalblutentnahme) sind ein wesentlicher Bestandteil der Pr\u00e4nataldiagnostik und die einzige etablierte und wissenschaftlich ausreichend evaluierte M\u00f6glichkeit der Diagnostik genetischer Erkrankungen aus schwangerschaftsspezifischen Zellen. Die Anzahl diagnostischer Punktionen in Deutschland ist, wie in anderen L\u00e4ndern, deutlich gesunken. Dies ist ma\u00dfgeblich auf die Einf\u00fchrung des Ersttrimester-Screenings mit weiterf\u00fchrender detaillierter Ultraschalluntersuchung des Fetus und die Analyse von cf-DNA (cell-free DNA) aus maternalem Blut (sogenannter \u201eNicht Invasiver Pr\u00e4nataler Test\u201c \u2013 NIPT) zur\u00fcckzuf\u00fchren. Andererseits sind die Erkenntnisse \u00fcber die Inzidenz und das Erscheinungsbild genetischer Erkrankungen gestiegen. Die Entwicklung moderner molekulargenetischer Techniken (Mikroarray- und Exom-Analyse) macht eine differenzierte Untersuchung dieser Erkrankungen mehr und mehr m\u00f6glich. Die Anforderungen an Aufkl\u00e4rung und Beratung \u00fcber diese komplexen Zusammenh\u00e4nge sind dadurch wesentlich h\u00f6her geworden. Die Studien der letzten Jahre machen deutlich, dass diagnostische Punktionen, die in Expertenzentren durchgef\u00fchrt werden, mit einem niedrigen Risiko f\u00fcr Komplikationen assoziiert sind. Insbesondere der eingriffsbedingte Abort unterscheidet sich kaum vom Hintergrundrisiko f\u00fcr einen Spontanabort. Die Sektion Gyn\u00e4kologie und Geburtshilfe der Deutschen Gesellschaft f\u00fcr Ultraschall in der Medizin (DEGUM) hat im Jahr 2013 Empfehlungen zu diagnostischen Punktionen in der Pr\u00e4natalmedizin publiziert 1. Die oben geschilderten Entwicklungen und neuen Erkenntnisse der letzten Jahre machen eine Revision und Neuformulierung dieser Empfehlungen n\u00f6tig. Ziel dieser \u00dcbersicht ist eine Zusammenstellung wichtiger und aktueller Fakten zu pr\u00e4natalmedizinischen Punktionen (u.a. Technik, Komplikationen, genetische Untersuchungen). Sie soll der grundlegenden umfassenden und aktuellen Information \u00fcber diagnostische Punktionen in der Pr\u00e4natalmedizin dienen. Sie ersetzt die Publikation von 2013 1.<\/jats:p>","DOI":"10.1055\/a-2014-4505","type":"journal-article","created":{"date-parts":[[2023,3,7]],"date-time":"2023-03-07T23:59:01Z","timestamp":1678233541000},"page":"269-279","source":"Crossref","is-referenced-by-count":8,"title":["Empfehlungen der DEGUM zu diagnostischen Punktionen in der Pr\u00e4natalmedizin"],"prefix":"10.1055","volume":"44","author":[{"given":"Christiane","family":"K\u00e4hler","sequence":"additional","affiliation":[{"name":"Obst Gyn, Prenatal Medicine Erfurt, Erfurt, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8374-2194","authenticated-orcid":false,"given":"Renaldo","family":"Faber","sequence":"additional","affiliation":[{"name":"Leipzig, Center of Prenatal Medicine, Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annegret","family":"Geipel","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Prenatal Medicine, University Hospital Bonn, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai-Sven","family":"Heling","sequence":"additional","affiliation":[{"name":"Obst Gyn, Prenatal Diagnosis and Human Genetics, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl-Oliver","family":"Kagan","sequence":"additional","affiliation":[{"name":"Prenatal Medicine, University Hospital Tuebingen, T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kozlowski","sequence":"additional","affiliation":[{"name":"Prenatal Medicine and Human Genetics, praenatal.de, Duesseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Schramm","sequence":"additional","affiliation":[{"name":"Ultrasound, Prenatal Medicine Munich, Muenchen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2023,3,7]]},"reference":[{"key":"ref1","first-page":"435","article-title":"Guidelines for Amniocentesis and Chorionic Villus Sampling","volume":"34","author":"C K\u00e4hler","year":"2013","journal-title":"Ultraschall in Med"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/uog.14636","article-title":"Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis","volume":"45","author":"R Akolekar","year":"2015","journal-title":"Ultrasound Obstet Gynecol"},{"key":"ref3","first-page":"38","article-title":"and the Danish Fetal Medicine Study Group","volume":"47","author":"CB Wulff","year":"2016","journal-title":"Risk of fetal loss associated with invasive testing following combined first-trimester screening for Down syndrome: a national cohort of 147 987 singleton pregnancies Ultrasound Obstet Gynecol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1002\/uog.20293","article-title":"Procedure-related risk of miscarriage following chorionic villus sampling and amniocentesis","volume":"54","author":"J Beta","year":"2019","journal-title":"Ultrasound Obstet Gynecol"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1002\/uog.20353","article-title":"Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta-analysis","volume":"54","author":"LJ Salomon","year":"2019","journal-title":"Ultrasound Obstet Gynecol"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1055\/a-0631-8898","article-title":"DEGUM, \u00d6GUM, SGUM and FMF Germany. 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