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| Effect of copy number variation sequencing combined with short tandem repeat typing technique in detecting the potential molar pregnancy in the early pregnancy loss tissue and the risk factor |
| 1.Shijiazhuang Maternal and Child Health Care Hospital, Hebei Province, 050000; 2.Hebei Medical University; 3.The First Hospital of Hebei Medical University |
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Abstract To evaluate the application efficacy of copy number variation sequencing(CNV-seq) combined with short tandem repeat(STR) polymorphism analysis technique in detecting the potential molar pregnancy cases in the tissue of the early pregnancy loss(≤9 gestational weeks). Methods: A total of 114 early pregnancy loss tissues from January 2021 to December 2022 were collected for CNV-seq combined with STR polymorphism testing, including the fresh chorionic villus tissues that underwent CNV-seq combined with STR polymorphism testing and the remaining tissues underwent routine pathological histology testing. The results of the two detection methods were compared, and the clinical features and the influencing factors of the patients with potential molar pregnancy were analyzed. Results: There were 28 cases with chromosomal abnormalities found by CNV-seq combined with STR polymorphism detection, with a positive rate of 24.6%, of which, 8 cases were uniparental disomy(UPD), accounting for 28.6% of the positive cases. A total of 12(10.5%) cases with hydatidiform moles detected by pathology, including 10 cases with complete hydatidiform moles(CHM), accounting for 83.3% of the positive cases. The consistency rate of the CNV-seq combined with STR polymorphism detection and the pathology was 89.5%, the Kappa value of which was 0.75, and the two methods had better consistency. There were significant differences in the age, the gravidity, the number of abortions, the β-hCG level, and the ultrasonographic results between the cases with and without potential hydatidiform mole. The Age, theβ-hCG level and the ultrasonographic results of the patients were the risk factors of their potential hydatidiform mole occurrence(all P<0.05). Conclusion: CNV-seq combined with STR polymorphism analysis technique used for detecting the early pregnancy loss tissues can help to find the potential hydatidiform mole of the patients, which can guide the clinical treatment and avoid reabortion
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