Application of BoBs technique in the detection of chromosome microdeletions/microduplications
10.3760/cma.j.issn.1009-9158.2018.02.003
- VernacularTitle:BoBs技术在染色体微缺失和微重复综合征诊断中的应用
- Author:
Kai MOU
1
;
Yi LIU
;
Xin WEI
;
Na LIU
Author Information
1. 255000,山东省淄博市妇幼保健院产前诊断中心
- Keywords:
Chromosome doletion;
Prenatal diagnosis;
Karyotyping
- From:
Chinese Journal of Laboratory Medicine
2018;41(2):88-91
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the value of BACs-on-BeadsTM(BoBs)technique in detection of chromosome microdeletions/microduplications.Methods Samples for detection included 1 486 amniotic fluid samples for prenatal diagnosis and 7 peripheral blood samples with suspected chromosome microdeletions/microduplications collected in Zibo Maternal and Child Health Hospital from March 2015 to January 2017.BoBs and karyotyping were performed for all samples and SNP arrays were carried out to confirm the positive results of BoBs.Results 1 case of DiGeorge syndrome, 3cases of 22q11 microduplication syndrome,and 3 cases of Williams-Beuren syndrome were detected by BoBs,among which 1 case of Williams-Beuren syndromewas detected from peripheral blood and the rest were detected from amniotic fluid samples of high-risk gravidas after serological screening.None of the above 7 cases with chromosome microdeletion/microduplication syndromes was detected by karyotyping,butall of them were identified by SNP arrays.Conclusion BoBstechnique is capable of detecting specific chromosome microdeletions/microduplications with high accuracy and efficiency, which couldbe an auxiliary diagnostic tool for fetal chromosome abnormalities in addition to karyotyping.
