{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T02:05:35Z","timestamp":1789524335667,"version":"build-2803163510"},"reference-count":31,"publisher":"Wiley","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"name":"Beijing Municipal Science & Technology Commission","award":["Z141107002514006"],"award-info":[{"award-number":["Z141107002514006"]}]},{"name":"Beijing Municipal Science & Technology Commission","award":["7142026"],"award-info":[{"award-number":["7142026"]}]},{"DOI":"10.13039\/501100004826","name":"Beijing Natural Science Foundation","doi-asserted-by":"crossref","award":["Z141107002514006"],"award-info":[{"award-number":["Z141107002514006"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004826","name":"Beijing Natural Science Foundation","doi-asserted-by":"crossref","award":["7142026"],"award-info":[{"award-number":["7142026"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>The aims of this study were to evaluate the contribution of chromosomal microarray analysis (CMA) in the prenatal diagnosis of fetuses with central nervous system (CNS) anomalies but normal chromosomal karyotype. A total of 46 fetuses with CNS anomalies with or without other ultrasound anomalies but normal karyotypes were evaluated by array-based comparative genomic hybridisation (aCGH) or single-nucleotide polymorphism (SNP) array. The result showed that CNVs were detected in 17 (37.0%) fetuses. Of these, CNVs identified in 5 (5\/46, 10.9%) fetuses were considered to be likely pathogenic, and CNVs detected in 3 (3\/46, 6.5%) fetuses were defined as being of uncertain clinical significance. Fetuses with CNS malformations plus other ultrasound anomalies had a higher rate of pathogenic CNVs than those with isolated CNS anomalies (13.6% versus 8.3%), but there was no significant difference (Fisher\u2019s exact test,<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mi>P<\/mml:mi><mml:mo>&gt;<\/mml:mo><mml:mn>0.05<\/mml:mn><\/mml:math>). Pathogenic CNVs were detected most frequently in fetuses with Dandy-Walker syndrome (2\/6, 33.3%) when compared with other types of neural malformations, and holoprosencephaly (2\/7, 28.6%) ranked the second. CMA is valuable in prenatal genetic diagnosis of fetuses with CNS anomalies. It should be considered as part of prenatal diagnosis in fetuses with CNS malformations and normal karyotypes.<\/jats:p>","DOI":"10.1155\/2015\/426379","type":"journal-article","created":{"date-parts":[[2015,5,12]],"date-time":"2015-05-12T21:05:39Z","timestamp":1431464739000},"page":"1-9","source":"Crossref","is-referenced-by-count":34,"title":["Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis"],"prefix":"10.1155","volume":"2015","author":[{"given":"Lijuan","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingqing","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, 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