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Abstract To investigate the value of single nucleotide polymorphic microarray (SNP array) in prenatal diagnosis of fetal right aortic arch (RAA). Methods: A total of 151 fetuses diagnosed as RAA by ultrasound from January 2016 to December 2020 were collected. CNV of these fetuses was detected by SNP array, and the karyotype analysis of these fetuses was performed by G banding. Results: In 151 fetuses, there were 17 fetuses with abnormal chromosome karyotype with the detection rate of 11.26%, which included 2 cases with trisomy 21, 2 cases with trisomy 13, 1 case with trisomy 8 chimerism, 6 cases with 22Q deletion, 2 cases with Xp deletion, 1 case with suspected disease on chromosome 2, and 3 cases with chromosome microdeletion with unknown clinical significance. Conclusion: The fetal RAA during the second and third trimester of pregnancy in prenatal diagnosis is associated with their chromosomal abnormalities with the mainly chromosomal aneuploid syndrome and 22Q microdeletion. Meanwhile, molecular detection techniques, such as SNP array analysis, can find the pathogenic CNV, which can improve the diagnosis rate of genetic etiology of fetal RAA.
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