Feasibility Analysis Of MLPA Technique As A Screening Method For Turner Syndrome

Background and objectiveTurner syndrome is a group of clinical syndrome characterized by secondary sexual agenesis or hypoplasia complicated with a variety of somatic deformities such as short stature and skeletal deformity.it is a chromosomal disease caused by the complete or partial deletion of one X chromosome.The prevalence rate of the population was about 2.5/10000~5/10000.Patients with Turner syndrome are seriously affected in life,learning and social communication.if they can be detected as soon as possible and appropriate intervention,it can improve the quality of life of patients,and even enable patients to obtain normal life and fertility.Karyotype analysis of peripheral blood cells is the most important detection method at present.however,the disadvantages of time-consuming and complex detection make it particularly important to find an efficient and convenient detection method.As a classical method for the detection of Turner syndrome,karyotype analysis of peripheral blood cells has high sensitivity and specificity,but it takes a long time because of the need for cell culture and amplification in vitro.The detection process mainly depends on the observation and judgment of chromosome morphology by experiments.while the technical requirements of operators are high,the results may be inaccurate in some special cases,which makes it as a screening technology is greatly limited.Multiplex probe amplification(MLPA),as the first generation of DNA sequencing technology,has the characteristics of high sensitivity,high efficiency and simple operation,and has shown high application value in the diagnosis of a variety of genetic diseases.However,there is no study on the effectiveness and value of MLPA in the detection,diagnosis and screening of Turner syndrome.the purpose of this study was to explore the effectiveness of MLPA in screening chromosomal abnormalities in Turner syndrome.To evaluate the feasibility of MLPA as analternative technique for screening Turner syndrome by peripheral blood karyotype analysis.MethodA total of 88 girls with dwarfism were collected from 2016 to 2018.The clinical data included sex hormone levels,left-handed positive film,color Doppler ultrasound of reproductive system,and 2 peripheral blood samples were collected from 88 girls with dwarfism diagnosed clinically in the people's Hospital of Northern Jiangsu Province,including sex hormone levels,left-handed positive film,color Doppler ultrasound of reproductive system,etc.MLPA detection and karyotype analysis of peripheral blood cells were carried out respectively.in addition,peripheral blood samples of 8 healthy man and 8 healthy woman were collected as normal reference for MLPA test.According to the clinical data of the girls,the clinical diagnosis was determined,and then the results of the two methods in the diagnosis of Turner syndrome were compared and analyzed,and the difference analysis was carried out by Fisher exact probability method,thus,to determine the diagnostic effectiveness of the two detection methods.ResultOf the 88 girls with dwarfism,14 were clinically diagnosed as Turner syndrome.There were 14 cases of abnormal karyotype analysis in peripheral blood,including 13 cases of Turner syndrome and 1 case of autosomal abnormality.the specificity,sensitivity and average detection time for the diagnosis of Turner syndrome were100%,92.8% and 25 days,respectively.14 cases were detected abnormal by MLPA.Among them,13 cases were diagnosed as Turner syndrome,1 case was suspected male at X chromosome site,Y chromosome duplication,the specificity of detection of Turner syndrome was 100%,the detection sensitivity was 100%,and the detecting time was about 2 days,the cost is about one sixth of peripheral blood karyotype analysis.The sensitivity of the two methods was analyzed by Fisher exact probability,and there was no significant difference between the two methods.ConclusionCompared with karyotype analysis of peripheral blood cells,MLPA technique has the advantages of more economical,efficient and less difficult to operate,and the sensitivity and specificity of detection are not inferior to karyotype analysis.it can be used as a screening method for Turner syndrome.However,due to the small number of experimental samples,more clinical studies are needed to further verify whether MLPA can be widely used in screening of Turner syndrome.