{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T07:48:27Z","timestamp":1762069707757,"version":"build-2065373602"},"reference-count":43,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,10,9]],"date-time":"2022-10-09T00:00:00Z","timestamp":1665273600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>This study aimed to compare the screening performance of genome-wide cfDNA testing for chromosomal abnormalities between two periods where additional findings were reported and not reported. Data were obtained from consecutive pregnant women with a singleton pregnancy at \u226510 weeks who requested cfDNA testing during 2015\u20132019. The performance of screening of the cfDNA test was determined by calculating the concordance rate, detection rate, and false-positive rate. Data from 3981 women were included. The no-result rates were similar between the two reporting periods (2.04% vs. 2.08%). Concordance rates for trisomy 21 and 18 were 100% and 100%, respectively. There were two cases tested high risk for trisomy 13, with a concordance rate of 0%. In total, 12 cases were high risk for any sex chromosome aneuploidy with an overall concordance of 75%, and 15 cases tested high risk for any rare autosomal trisomy, with a 13.3% concordance rate. The detection rates for trisomy 21 and 18 were 100% and 100%, respectively. For any SCA, the detection rate was 90%. For the two reporting periods, the combined false-positive rates were 0.93% and 0.17%, which were significantly different (p = 0.002). Restricting the reporting of additional findings from genome-wide cfDNA analysis has reduced the false-positive rate but without a reduction in the no-result rate.<\/jats:p>","DOI":"10.3390\/diagnostics12102439","type":"journal-article","created":{"date-parts":[[2022,10,9]],"date-time":"2022-10-09T20:49:31Z","timestamp":1665348571000},"page":"2439","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4140-6651","authenticated-orcid":false,"given":"Angel","family":"Kwan","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaofan","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"},{"name":"Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9993-5249","authenticated-orcid":false,"given":"Maria","family":"Mar Gil","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department, Hospital Universitario de Torrej\u00f3n Torrej\u00f3n de Ardoz, 28850 Madrid, Spain"},{"name":"School of Medicine, Universidad Francisco de Vitoria (UFV), Pozuelo de Alarc\u00f3n, 28223 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yvonne","family":"Kwok","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4586-6054","authenticated-orcid":false,"given":"Isabella","family":"Wah","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5042-4731","authenticated-orcid":false,"given":"Annie","family":"Hui","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuen-Ha","family":"Ting","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kwok-Ming","family":"Law","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doris","family":"Lau","sequence":"additional","affiliation":[{"name":"Xcelom Ltd., Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuwen","family":"Xue","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3616-6200","authenticated-orcid":false,"given":"Kwong-Wai","family":"Choy","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daljit","family":"Sahota","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tak-Yeung","family":"Leung","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3944-4130","authenticated-orcid":false,"given":"Liona","family":"Poon","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1002\/uog.17484","article-title":"Analysis of cell-free DNA in maternal blood in screening for aneuploidies: Updated meta-analysis","volume":"50","author":"Gil","year":"2017","journal-title":"Ultrasound Obstet. 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