{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:49:12Z","timestamp":1747151352248,"version":"3.40.5"},"reference-count":5,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,1,10]],"date-time":"2023-01-10T00:00:00Z","timestamp":1673308800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004829","name":"Department of Science and Technology of Sichuan Province","doi-asserted-by":"publisher","award":["2019YFS0037","2019YFS0403"],"award-info":[{"award-number":["2019YFS0037","2019YFS0403"]}],"id":[{"id":"10.13039\/501100004829","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aims<\/jats:title><jats:p>We describe two fetuses with conotruncal heart defects (CTDs) (persistent truncus arteriosus and pulmonary atresia\/ventricular septal defect, respectively) in a Chinese family whose parents were both healthy. Testing was performed to identify any underlying genetic cause.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Genomic DNA was extracted from the peripheral blood of the proband\u2019s parents and the skeletal muscle tissue of the two aborted fetuses for genetic testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A heterozygous likely pathogenic missense variant, c.1724G\u232aC (:p.Cys575Ser), in the <jats:italic>NOTCH1<\/jats:italic> gene (NM_017617.5) was detected in the two affected fetuses but not in the parents, and the next generation sequencing test of the proband\u2019s father showed a normal result. It is therefore presumed to result from germline mosaicism in the proband\u2019s mother or, less likely, is a recurrent de novo variant in the fetuses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first description of fetal non\u2010syndromic CTD caused by a variant in <jats:italic>NOTCH1<\/jats:italic>. This report not only expands the gene variant spectrum of CTDs, but also emphasizes the importance of <jats:italic>NOTCH1<\/jats:italic> testing when a fetal of CTD is detected.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6290","type":"journal-article","created":{"date-parts":[[2022,12,26]],"date-time":"2022-12-26T03:58:12Z","timestamp":1672027092000},"page":"280-283","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel <i>NOTCH1<\/i> missense variant in two fetuses with a non\u2010syndromic conotruncal heart defect from a single family"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5104-0921","authenticated-orcid":false,"given":"Jie","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Ultrasonic Medicine West China Second University Hospital of Sichuan University  Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaohui","family":"Dai","sequence":"additional","affiliation":[{"name":"Department of Ultrasonic Medicine West China Second University Hospital of Sichuan University  Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanmin","family":"Liu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"},{"name":"Department of Pediatric Pulmonology and Immunology West China Second University Hospital of Sichuan University  Chengdu China"},{"name":"Key Laboratory of Chronobiology (Sichuan University) National Health Commission of China  Chengdu China"},{"name":"The Joint Laboratory for Lung Development and Related Diseases of West China Second University Hospital Sichuan University and School of Life Sciences of Fudan University West China Institute of Women and Children\u2019s Health West China Second University Hospital of Sichuan University  Chengdu China"},{"name":"Sichuan Birth Defects Clinical Research Center West China Second University Hospital of Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu","family":"Zhou","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"},{"name":"Department of Obstetrics West China Second University Hospital of Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ting","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Ultrasonic Medicine West China Second University Hospital of Sichuan University  Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nan","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Ultrasonic Medicine West China Second University Hospital of Sichuan University  Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Ultrasonic Medicine West China Second University Hospital of Sichuan University  Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,1,10]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0219926"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.193"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006335"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2020.144555"}],"container-title":["Prenatal 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