| Background:Beta-thalassemia is one of the most common autosomal monogenic hereditary diseases in the world.Children with medium to severe beta-thalassaemia may appear gradually aggravate symptoms of hemolytic anemia from 3 to 6 months after birth and lack specific treatments.Children need to rely on long-term blood transfusion and iron removal treatment to survive,and the only radical cure is expensive hematopoietic stem cell transplantation,which brings a serious burden to the family and society.At present,prenatal diagnosis mainly relies on invasive methods such as chorionic villi sampling,amniocentesis and umbilical cord blood puncture to obtain fetal information for disease prevention.However,invasive detection methods have some defects,such as abortion,narrow detection window,long laboratory diagnosis cycle and heavy workload.Therefore,early,rapid,accurate,non-invasive and safe detection and analysis methods are of great significance for the diagnosis of fetal beta-thalassemia.Objective:To evaluate the value of non-invasive prenatal testing in the diagnosis of fetal beta-thalassemia,a meta-analysis was conducted to evaluate the sensitivity and specificity of non-invasive prenatal testing in the diagnosis of fetal beta-thalassemia.Method:Relevant literatures were obtained by searching English databases such as Pub Med,Embase,Cochrane Library and Ovid,as well as Chinese databases such as Wanfang Database,CNKI,CBM and VIP.The retrieval period is from the establishment of the database to October 2020,and the retrieval is not limited to language and publication date.The literature included included studies that prospectively evaluated the diagnosis of fetal beta-thalassemia by non-invasive prenatal testing.Endnote X9.0 was used to screen the acquired literatures according to the inclusion and exclusion criteria.QUADAS(Diagnostic Test Accuracy Quality Assessment)was used to evaluate the literature quality.Stata 16.0 was used for statistical analysis of the data from the included studies.Result:A total of 13 literatures were included in this study,including 8English literatures and 5 Chinese literatures,involving a total of 676patients.The overall quality of the included research literatures were good.Results of the Meta-analysis showed that the sensitivity of NIPT in the diagnosis of fetal beta-thalassemia was 94%(95%CI=0.89-0.97;I~2=48.58%),and the specificity was 86%(95%CI=0.80-0.90;I~2=38.35%)and the positive likelihood ratio was 6.68(95%CI=4.56-9.77;I~2=1.18%)with the negative likelihood ratio of 0.07(95%CI=0.04-0.13;I~2=41.30%).The area under the aggregate receiver operating curve was 0.95(95%CI=0.93-0.97).Deeks’test showed no publication bias(P=0.61).The results are stable and reliable,with little heterogeneity and no obvious publication bias.Subgroup analysis showed that the sensitivity of the sequencing method based on gene analysis was similar to that of the PCR-based conventional detection method(combined sensitivity was 94%),while the specificity of sequencing method was higher(combined specificity was 87%vs86%).QIAamp Circulating Nucleic Acid kit for cff DNA extraction was better than QIAamp DNA mini kit(combined sensitivity96%vs90%;Specificity 90%vs86%,AUC0.94vs0.91).Conclusions:1.Non-invasive prenatal testing in the diagnosis of fetal beta-thalassemia has considerable sensitivity and specificity.2.Among NIPT assays for the diagnosis of fetalβ-thalassaemia,the sensitivity of routine laboratory tests based on PCR is comparable to that of sequencing tests based on gene analysis,while sequencing tests can achieve higher specificity.3.QIAamp Circulating Nucleic Acid kit has better cff DNA extraction performance than QIAamp DNA mini kit in the NIPT method for diagnosis of fetalβ-thalassaemia. |
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