{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T22:51:49Z","timestamp":1769727109343,"version":"3.49.0"},"reference-count":27,"publisher":"S. Karger AG","issue":"9","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fetal Diagn Ther"],"published-print":{"date-parts":[[2021]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Objective:&lt;\/i&gt;&lt;\/b&gt; DiGeorge syndrome (DGS) is associated with microdeletions of chromosome 22q11. It is the second most common cause of congenital heart disease and is an important consideration whenever a conotruncal cardiac anomaly is identified. The availability of noninvasive prenatal testing (NIPT) is altering the practice of prenatal genetics and maternal-fetal medicine, resulting in a decline in invasive testing. Antenatal ultrasound and other biomarkers have their own limitation. NIPT was proposed to screen DGS with cell-free DNA in Taiwan. Here, we present our experience of prenatal diagnosis of DGS in our center. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; This was a retrospective study between November 1, 2019, and August 31, 2020, in Taiwan. Data were collected from 7,826 pregnant women self-referred for DGS screening with massive parallel shotgun sequencing-based NIPT. High-risk cases subsequently received amniocentesis for array comparative genomic hybridization (aCGH) to confirm the diagnosis. Characteristics of pregnancies were documented when participants received the test. Report of NIPT was completed 2 weeks after the test. Follow-up on high-risk cases was completed by telephone interview on January 30, 2021. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; Thirteen cases showed high risk by NIPT, and 7 cases were confirmed by aCGH. The sensitivity and specificity were 100% (95% confidence interval [CI] 64.57\u2013100.00%) and 99.92% (95% CI 99.83\u201399.96%). The prevalence of DGS was 1 in 1,118 pregnancies. The positive predictive rate was 53.85% (95% CI 29.14\u201376.79%). One true positive (TP) showed US anomaly, and 5 TPs selected termination. &lt;b&gt;&lt;i&gt;Discussion\/Conclusion:&lt;\/i&gt;&lt;\/b&gt; NIPT demonstrated good performance in DGS screening. Detection of 22q11.2 deletion could be combined with routine screening to facilitate proper intervention. <\/jats:p>","DOI":"10.1159\/000519057","type":"journal-article","created":{"date-parts":[[2021,9,16]],"date-time":"2021-09-16T21:00:32Z","timestamp":1631826032000},"page":"672-677","source":"Crossref","is-referenced-by-count":11,"title":["Taiwanese Clinical Experience with Noninvasive Prenatal Testing for DiGeorge Syndrome"],"prefix":"10.1159","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5181-5571","authenticated-orcid":false,"given":"Tzu-Yi","family":"Lin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T\u2019sang-T\u2019ang","family":"Hsieh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Po-Jen","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2354-7060","authenticated-orcid":false,"given":"Tai-Ho","family":"Hung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kok-Seong","family":"Chan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chris","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3931-7297","authenticated-orcid":false,"given":"Steven W.","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,9,16]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.iac.2008.01.003"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.1.101"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15754"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0193476"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.71"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.02.039"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159\/000484317"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200101000-00006"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1515\/jpm-2015-0434"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S65698"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-33"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(200022)97:2%3c136::aid-ajmg5%3e3.0.co;2-v"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.165"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13098"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.11.041"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.12.006"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-007-9074-2"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.71"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0467-4"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4640"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000000336"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1159\/000355407"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4111"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.4.489"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30273"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1159\/000487094"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.97"}],"container-title":["Fetal Diagnosis and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/519057","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/519057","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:22:02Z","timestamp":1745421722000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000519057"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":27,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2021,11,23]]},"published-print":{"date-parts":[[2021,11,30]]}},"URL":"https:\/\/doi.org\/10.1159\/000519057","archive":["Portico"],"relation":{},"ISSN":["1015-3837","1421-9964"],"issn-type":[{"value":"1015-3837","type":"print"},{"value":"1421-9964","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021]]}}}