{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T22:22:11Z","timestamp":1780957331050,"version":"3.54.1"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,3,13]],"date-time":"2018-03-13T00:00:00Z","timestamp":1520899200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2018,4]]},"abstract":"What's already known about this topic?\n\nNIPS is commonly used to screen for chromosomal abnormality. The test can be extended to screen for microdeletions such as 22q11.2 deletion syndrome.<\/jats:p><\/jats:list-item>\n<\/jats:list><\/jats:p>What does this study add?\n\nWe present a case of 22q11.2 deletion syndrome missed by NIPS in a fetus with isolated bilateral talipes. Clinicians should be aware of the controversy surrounding the use of NIPS for 22q11.2 deletion syndrome and that a negative test does not exclude the diagnosis.<\/jats:p><\/jats:list-item>\n<\/jats:list><\/jats:p>","DOI":"10.1002\/pd.5241","type":"journal-article","created":{"date-parts":[[2018,2,23]],"date-time":"2018-02-23T10:46:35Z","timestamp":1519382795000},"page":"376-378","source":"Crossref","is-referenced-by-count":8,"title":["A case of prenatal isolated talipes and 22q11.2 deletion syndrome\u2014an important chromosomal disorder missed by noninvasive prenatal screening"],"prefix":"10.1002","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1207-6494","authenticated-orcid":false,"given":"Ka Wang","family":"Cheung","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Queen Mary Hospital The University of Hong Kong Hong Kong Special Administrative Region China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carman Wing Sze","family":"Lai","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Queen Mary Hospital The University of Hong Kong Hong Kong Special Administrative Region China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher Chun Yu","family":"Mak","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine The University of Hong Kong Hong Kong Special Administrative Region China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pui Wah","family":"Hui","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Queen Mary Hospital The University of Hong Kong Hong Kong Special Administrative Region China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian Hon Yin","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine The University of Hong Kong Hong Kong Special Administrative Region China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita Sik Yau","family":"Kan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Queen Mary Hospital The University of Hong Kong Hong Kong Special Administrative Region China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,3,13]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001051"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4864"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.71"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1203382"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4613"},{"key":"e_1_2_5_7_1","article-title":"Clinical experience with a single\u2010nucleotide 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