{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T13:31:02Z","timestamp":1770903062221,"version":"3.50.1"},"reference-count":38,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,12]],"date-time":"2017-03-12T00:00:00Z","timestamp":1489276800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To quantify the impact of cell\u2010free DNA (cfDNA) screening on chorionic villus sampling (CVS) test indications and outcomes in a tertiary maternity service.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Retrospective cohort study of all CVS procedures performed for any indication on singleton pregnancies at The Royal Women's Hospital, Melbourne, and at Women's Ultrasound Melbourne, Australia, between August 2008 and February 2015. Karyotypes were classified according to pathogenicity and detectability by standard cfDNA screening panels.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 2051 CVS procedures, 25\u2009373 twelve\u2010week scans and 2394 cfDNA tests were performed. The CVS rate per 12\u2010week scan fell from 9.8 to 3.9% following introduction of cfDNA screening. The yield of pathogenic chromosomal anomalies per CVS increased from 12.9 to 25.2%, with 70% of pathogenic results now comprising T21, up from 52%. Sixteen (5.3%) of the pathogenic chromosomal abnormalities identified on CVS would not have been predicted by current cfDNA tests.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>There is an evolving tension between improved screening performance for common aneuploidies offered by cfDNA testing, and the increasing diagnostic utility of molecular karyotyping. However, the risk of not identifying pathogenic chromosomal abnormalities is low if cfDNA screening is offered in the absence of a structural fetal anomaly, increased nuchal translucency or relevant family history. \u00a9 2017 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5026","type":"journal-article","created":{"date-parts":[[2017,2,16]],"date-time":"2017-02-16T19:12:51Z","timestamp":1487272371000},"page":"399-408","source":"Crossref","is-referenced-by-count":9,"title":["Chorionic villus sampling in the cell\u2010free DNA aneuploidy screening era: careful selection criteria can maximise the clinical utility of screening and invasive testing"],"prefix":"10.1002","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5172-3263","authenticated-orcid":false,"given":"Stefan C.","family":"Kane","sequence":"first","affiliation":[{"name":"Pregnancy Research Centre Department of Maternal Fetal Medicine, The Royal Women's Hospital  Parkville VIC 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