{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T14:42:08Z","timestamp":1790088128892,"version":"4.0.1"},"reference-count":49,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,1,21]],"date-time":"2023-01-21T00:00:00Z","timestamp":1674259200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To evaluate the performance of cell\u2010free DNA (cfDNA) screening for common fetal aneuploidies, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low\u2010risk cfDNA screening.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>A single\u2010center prenatal cfDNA screening test was employed to detect trisomies 21, 18, and 13 (T21, T18, T13) and sex chromosome aneuploidies (SCAs). Test performance, choice of prenatal procedure, and cytogenetic results in pregnancies with low\u2010risk cfDNA screening were reviewed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      CfDNA screening of 38,289 consecutive samples identified 720 (1.9%) pregnancies at increased risk for aneuploidy. Positive predictive values (PPVs) for high\u2010risk singleton pregnancies were 98.5% (T21), 92.5% (T18) and 55.2% (T13). PPVs for SCAs ranged from 30.6% to 95.2%. Most women elected chorionic villus sampling for prenatal diagnosis of T21, T18 and T13; amniocentesis and\/or postnatal testing were commonly chosen for SCAs. Cytogenetic tests from 616 screen\u2010negative pregnancies identified 64 cases (12.7%) with chromosome conditions not detected by cfDNA screening, including triploidy (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a030) and pathogenic and likely pathogenic copy number variants (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a034). A further 15 (0.04%) false\u2010negative common aneuploidy results were identified.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>CfDNA screening was highly accurate for detecting fetal aneuploidy in this general\u2010risk obstetric population. Fetal ultrasound and prenatal diagnostic testing were important in identifying chromosome conditions in pregnancies screened as low\u2010risk.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6307","type":"journal-article","created":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T02:19:07Z","timestamp":1673230747000},"page":"213-225","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Performance of a cell\u2010free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low\u2010risk cell\u2010free DNA screening"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5195-9727","authenticated-orcid":false,"given":"Katrina L.","family":"Scarff","sequence":"first","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute  Parkville Victoria 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