{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:52:35Z","timestamp":1786978355998,"version":"build-2736575974"},"reference-count":69,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,1,10]],"date-time":"2019-01-10T00:00:00Z","timestamp":1547078400000},"content-version":"vor","delay-in-days":9,"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":[[2019,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Cell\u2010free DNA (cfDNA) testing for fetal aneuploidy is one of the most important technical advances in prenatal care. Additional chromosome targets beyond common aneuploidies, including the 22q11.2 microdeletion, are now available because of this clinical testing technology. While there are numerous potential benefits, 22q11.2 microdeletion screening using cfDNA testing also presents significant limitations and pitfalls. Practitioners who are offering this test should provide comprehensive pretest and posttest prenatal counselling. The discussion should include the possibility of an absence of a result, as well as the risk of possible discordance between cfDNA screening results and the actual fetal genetic chromosomal constitution. The goal of this review is to provide an overview of the cfDNA testing technologies for 22q11.2 microdeletions screening, describe the current state of test validation and clinical experience, review \u201cno results\u201d and discordant findings based on differing technologies, and discuss management options.<\/jats:p>","DOI":"10.1002\/pd.5391","type":"journal-article","created":{"date-parts":[[2019,1,9]],"date-time":"2019-01-09T12:14:24Z","timestamp":1547036064000},"page":"70-80","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Noninvasive screening by cell\u2010free DNA for 22q11.2 deletion: Benefits, limitations, and challenges"],"prefix":"10.1002","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3836-5190","authenticated-orcid":false,"given":"Francesca Romana","family":"Grati","sequence":"first","affiliation":[{"name":"Research and Development, Cytogenetics and Medical Genetics Unit TOMA Advanced Biomedical Assays S.p.A.  Busto Arsizio (Varese) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5888-5097","authenticated-orcid":false,"given":"Susan J.","family":"Gross","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York City NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,1,10]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.2353\/ajpath.2006.060161"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deh117"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1517\/14712598.2012.670632"},{"key":"e_1_2_4_5_1","volume-title":"GeneReviews\u00ae [Internet]","author":"McDonald\u2010McGinn DM","year":"1999"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.02.039"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.71"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.01.018"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4321"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971017)72:2<247::AID-AJMG25>3.0.CO;2-M"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000438708"},{"key":"e_1_2_4_12_1","first-page":"11","article-title":"The Philadelphia story: the 22q11.2 deletion: report on 250 patients","volume":"10","author":"McDonald\u2010McGinn DM","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4935"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4911"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12403"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.11194"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14695"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4613"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1203382"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-017-0308-6"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14866"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000000325"},{"key":"e_1_2_4_23_1","unstructured":"Sparsoet al American Society of Human Genetics 66th Annual MeetingOctober 18\u201322 2016VANCOUVER CANADA"},{"key":"e_1_2_4_24_1","doi-asserted-by":"publisher","DOI":"10.1086\/511993"},{"key":"e_1_2_4_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)14632-6"},{"issue":"4","key":"e_1_2_4_26_1","first-page":"B2","article-title":"Society for Maternal\u2010Fetal Medicine (SMFM). 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