The Application Value of Low-Depth Whole-Genome Sequencing Combined with G-Banding Chromosome Karyotyping Analysis in Preventing Birth Defects
Zhang Caihong
Abstract：Objective:To explore the application value of combining low-depth whole-genome sequencing technology(CNV-seq)with G-banding chromosome karyotyping analysis in preventing birth defects.Methods:A retrospective analysis was conducted on 144 pregnant women from January 2022 to January 2024 at Zhumadian Traditional Chinese Medicine Hospital who were identified as high-risk cases through non-invasive prenatal testing(NIPT).Following genetic counseling,these women voluntarily underwent G-banding chromosome karyotyping and CNV-seq testing.The results of both G-banding chromosome karyotyping and CNV-seq testing were recorded.Results:Among 144 NIPT cases flagged as high risk,the detection rate for abnormalities identified via G-banding chromosome analysis was 50.00%,while the detection rate via CNV-seq was 53.47%.Both methods demonstrated identical detection rates for high-risk cases of Edwards syndrome(ES),Down sydrome(DS),and Patau syndrome(PS).CNV-seq detection identified 4 additional chromosomal abnormalities and 1 sex chromosome abnormality compared to G-banding karyotyping.Combined detection achieved an abnormality detection rate of 56.25%,surpassing both individual methods.Conclusion:G-banding chromosome karyotyping and CNV-seq detection each have distinct advantages.Combined testing complements these methods,enhancing the detection rate of chromosomal abnormalities and reducing birth defects.
Keywords：G-banding chromosome karyotypingPrenatal diagnosisLow depth whole genome sequencing technologyNon-invasive DNA prenatal testing
Publication Date：2025-12-10
Online Publishing Date：2025-12-31(First online date of this platform, not the publication date of the document)
Pages：3( 2870-2872 )