Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis
المؤلفون المشاركون
Sun, Lijuan
Wu, Qingqing
Yan, Yani
Wang, Xin
Zhang, Juan
Liu, Yan
Yao, Ling
Ma, Yuqing
Wang, Li
Jiang, Shi-Wen
المصدر
العدد
المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-9، 9ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-05-12
دولة النشر
مصر
عدد الصفحات
9
التخصصات الرئيسية
الملخص EN
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’s exact test, P>0.05).
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.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Sun, Lijuan& Wu, Qingqing& Jiang, Shi-Wen& Yan, Yani& Wang, Xin& Zhang, Juan…[et al.]. 2015. Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis. BioMed Research International،Vol. 2015, no. 2015, pp.1-9.
https://search.emarefa.net/detail/BIM-1055443
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Sun, Lijuan…[et al.]. Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis. BioMed Research International No. 2015 (2015), pp.1-9.
https://search.emarefa.net/detail/BIM-1055443
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Sun, Lijuan& Wu, Qingqing& Jiang, Shi-Wen& Yan, Yani& Wang, Xin& Zhang, Juan…[et al.]. Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-9.
https://search.emarefa.net/detail/BIM-1055443
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1055443
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر