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Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature
المؤلفون المشاركون
Moutafi, Maria
Patsalis, Philippos C.
Evangelidou, Paola
Alexandrou, Angelos
Ioannides, Marios
Antoniou, Pavlos
Koumbaris, George
Kallikas, Ioannis
Velissariou, Voula
Sismani, Carolina
المصدر
العدد
المجلد 2013، العدد 2013 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-14، 14ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2013-03-04
دولة النشر
مصر
عدد الصفحات
14
التخصصات الرئيسية
الملخص EN
Array Comparative Genomic Hybridization analysis is replacing postnatal chromosomal analysis in cases of intellectual disabilities, and it has been postulated that it might also become the first-tier test in prenatal diagnosis.
In this study, array CGH was applied in 64 prenatal samples with whole genome oligonucleotide arrays (BlueGnome, Ltd.) on DNA extracted from chorionic villi, amniotic fluid, foetal blood, and skin samples.
Results were confirmed with Fluorescence In Situ Hybridization or Real-Time PCR.
Fifty-three cases had normal karyotype and abnormal ultrasound findings, and seven samples had balanced rearrangements, five of which also had ultrasound findings.
The value of array CGH in the characterization of previously known aberrations in five samples is also presented.
Seventeen out of 64 samples carried copy number alterations giving a detection rate of 26.5%.
Ten of these represent benign or variables of unknown significance, giving a diagnostic capacity of the method to be 10.9%.
If karyotype is performed the additional diagnostic capacity of the method is 5.1% (3/59).
This study indicates the ability of array CGH to identify chromosomal abnormalities which cannot be detected during routine prenatal cytogenetic analysis, therefore increasing the overall detection rate.
In addition a thorough review of the literature is presented.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Evangelidou, Paola& Alexandrou, Angelos& Moutafi, Maria& Ioannides, Marios& Antoniou, Pavlos& Koumbaris, George…[et al.]. 2013. Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature. BioMed Research International،Vol. 2013, no. 2013, pp.1-14.
https://search.emarefa.net/detail/BIM-1030417
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Evangelidou, Paola…[et al.]. Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature. BioMed Research International No. 2013 (2013), pp.1-14.
https://search.emarefa.net/detail/BIM-1030417
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Evangelidou, Paola& Alexandrou, Angelos& Moutafi, Maria& Ioannides, Marios& Antoniou, Pavlos& Koumbaris, George…[et al.]. Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature. BioMed Research International. 2013. Vol. 2013, no. 2013, pp.1-14.
https://search.emarefa.net/detail/BIM-1030417
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1030417
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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