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| Application efficacy of chromosome microarray technology and low depth whole genome sequencing technology for diagnosing fetal DNA abnormalities and its etiology |
| Huizhou Second Women and Children's Health Care Hospital，Huizhou Guangdong Province, 516008 |
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Abstract To investigate the diagnostic value of chromosome microarray technology (CMA) and low depth whole genome sequencing technology (CNV-seq) for fetal DNA abnormalities, and to study the etiology detections. Methods: 150 pregnant women who underwent labor induction in the hospital from January 2021 to December 2023 were selected as the research objects. The results of the prenatal noninvasive genetic screening (NIPT) technology of the fetal DNA were used as the gold standard. CMA and CNV-seq were detected in all the fetuses after labor induction. The results of these fetuses were compared between CMA and CNV-seq. Receiver characteristic (ROC) curve was used to analyze the diagnostic values of CMA and CNV-seq for the fetal DNA abnormalities. The results of the etiology detection of the fetuses with DNA abnormalities were also compared between CMA and CNV-seq. Results: The positive detection rate of the fetuses with DNA abnormalities by CNV-seq was 85.9%, and which was significantly higher than that (73.7%) by CMA. The area under the curve (AUC) of CNV-seq for diagnosing the fetal DNA abnormalities was 0.870, which was significantly higher than that (0.761) of CMA. The detection rate of the etiology of the fetuses with DNA abnormalities by CNV-seq was 85.9%, and which was significantly higher than that (73.7%) by CMA (all P<0.05). Conclusion: Both CMA and CNV-seq have high detection rates for the fetal DNA abnormalities and also have high detection rates of the etiology of the fetuses with DNA abnormalities, and CNV-seq has the higher diagnostic efficiency than that of CMA, and both CMA and CNV-seq can provide the references for the prenatal diagnosis of the fetal DNA abnormalities.
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