Open AccessDetection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotype
Author(s) -
Song Tingting,
Wan Shanning,
Li Yu,
Xu Ying,
Dang Yinghui,
Zheng Yunyun,
Li Chunyan,
Zheng Jiao,
Chen Biliang,
Zhang Jianfang
Publication year - 2019
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.22630
Subject(s) - karyotype , prenatal diagnosis , copy number variation , fetus , microarray , penetrance , medicine , genetic counseling , live birth , genetics , chromosome , biology , pregnancy , phenotype , gene , genome , gene expression
Background With the increasing availability of chromosomal microarray analysis ( CMA ) for congenital heart defect ( CHD ), genetic testing now faces new challenges due to results with uncertain clinical impact. Studies are needed to better define the penetrance of genetic variants. The aim of the study was to examine the association between CMA and CHD s in fetuses with normal karyotype. Methods This was a retrospective study of 190 fetuses with normal karyotype that underwent CMA after a diagnosis of CHD by fetal ultrasound. Invasive prenatal diagnosis was performed between January 2015 and December 2016 at the first affiliated hospital of Air Force Medical University. Results Chromosomal microarray analysis detected pathogenic copy number variants ( pCNV s) in 13/190 (6.84%) fetuses, likely pCNV s in 5/190 (2.63%), and variants of unknown significance ( VOUS ) in 14/190 (7.37%). Among those with pCNV s, none (0%) yielded a normal live birth. Among those with likely pCNV s, 2/5 (40.0%) yielded a live birth. Among the fetuses with VOUS , 10/14 (71.5%) yielded a live birth. Conclusion These results highlight the usefulness of CMA for prenatal genetic diagnosis of fetuses with CHD s and normal karyotype. In fetuses with CHD , the application of CMA could increase the detection rate of pCNV s causing CHD s. In this study, some VOUS were likely pathogenic, but additional studies are necessary to confirm these findings.