{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T15:55:10Z","timestamp":1787500510537,"version":"build-2736575974"},"reference-count":35,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2020,12,24]],"date-time":"2020-12-24T00:00:00Z","timestamp":1608768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Key Research and Development Project","award":["2018YFC1002203"],"award-info":[{"award-number":["2018YFC1002203"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Trisomy 7 is the most frequently observed type of rare autosomal trisomies in genome-wide non-invasive prenatal screening (NIPS). Currently, the clinical significance of trisomy 7 NIPS-positive results is still unknown. We reviewed two independent cohorts from two laboratories where similar NIPS metrics were applied. A total of 70,441 singleton cases who underwent genome-wide NIPS were analyzed, among which 39 pregnancies were positive for trisomy 7, yielding a screen-positive rate of 0.055% (39\/70,441). There were 28 cases with invasive testing results available; the positive predictive value (PPV) was 3.6% (1\/28). We then searched the published NIPS studies to generate a large cohort of 437,873 pregnancies and identified 247 cases (0.056%) that were screened positive for trisomy 7. The overall PPV was 3.4% (4\/118) in the combined data. The presence of uniparental disomy 7 was not detected in the NIPS trisomy 7-positive pregnancies with normal fetal karyotype. Among the 85 cases with pregnancy outcome available in combined data, 88.2% were normal live births, 14.1% had intrauterine growth restriction, preterm birth or low birth weight, 3.5% presented with ultrasound abnormality, and no fetal loss was observed. Our data provide valuable information for counseling and management of trisomy 7-positive NIPS pregnancies.<\/jats:p>","DOI":"10.3390\/genes12010011","type":"journal-article","created":{"date-parts":[[2020,12,24]],"date-time":"2020-12-24T09:02:44Z","timestamp":1608800564000},"page":"11","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review"],"prefix":"10.3390","volume":"12","author":[{"given":"Xiaofan","family":"Zhu","sequence":"first","affiliation":[{"name":"Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China"},{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doris Yuk Man","family":"Lam","sequence":"additional","affiliation":[{"name":"NIPT Department, NGS Lab, Xcelom Limited, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew Hoi Kin","family":"Chau","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuwen","family":"Xue","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Dai","sequence":"additional","affiliation":[{"name":"Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ganye","family":"Zhao","sequence":"additional","affiliation":[{"name":"Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunny Wai Hung","family":"Cheung","sequence":"additional","affiliation":[{"name":"NIPT Department, NGS Lab, Xcelom Limited, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne Ka Yin","family":"Kwok","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwong Wai","family":"Choy","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"},{"name":"Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen 518100, China"},{"name":"The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangdong","family":"Kong","sequence":"additional","affiliation":[{"name":"Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tak Yeung","family":"Leung","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China"},{"name":"Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen 518100, China"},{"name":"The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,12,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Nussbaum, R.L., McInnes, R.R., and Willard, H.F. 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