CAJ | 학술논문

目的：对无创DNA检查21-三体综合征阳性的胎儿进行产前诊断。方法采用羊膜腔穿刺术及脐血穿刺术，通过细胞培养方法及荧光原位杂交技术（ FISH）对胎儿细胞进行染色体核型分析。运用高通量DNA技术对胎盘进行检测，分析无创DNA检查假阳性结果的原因。结果羊水细胞核型分析结果为46，XN/47，XN，＋21（141/5），为21-三体嵌合体核型。羊水细胞FISH结果正常。脐血穿刺胎儿染色体正常。胎盘中心位置及母胎面为正常核型和21-三体嵌合体核型，胎盘胎儿面及脐带组织为正常核型，为限制性胎盘嵌合体。结论无创DNA检查存在假阳性结果。无创DNA检查阳性结果必须通过羊膜腔穿刺和（或）脐血穿刺进行确诊。羊水染色体疑似嵌合现象必须通过脐血穿刺进行确诊。
목적：대무창DNA검사21-삼체종합정양성적태인진행산전진단。방법채용양막강천자술급제혈천자술，통과세포배양방법급형광원위잡교기술（ FISH）대태인세포진행염색체핵형분석。운용고통량DNA기술대태반진행검측，분석무창DNA검사가양성결과적원인。결과양수세포핵형분석결과위46，XN/47，XN，＋21（141/5），위21-삼체감합체핵형。양수세포FISH결과정상。제혈천자태인염색체정상。태반중심위치급모태면위정상핵형화21-삼체감합체핵형，태반태인면급제대조직위정상핵형，위한제성태반감합체。결론무창DNA검사존재가양성결과。무창DNA검사양성결과필수통과양막강천자화（혹）제혈천자진행학진。양수염색체의사감합현상필수통과제혈천자진행학진。
Objective To conduct prenatal diagnosis of positive 21-trisomy syndrome results by DNA noninvasive prenatal testing . Methods Amniocentesis , cordocentesis and fluorescence in situ hybridization ( FISH ) were used to analyze fetal karyotype .High-throughput DNA technique was applied to detect placenta , and the causes of DNA noninvasive prenatal testing of false positive results were analyzed.Results The result of amniocentesis was 46, XN/47, XN, +21(141/5), shown as 21-trisomy mosaicism karyotype.The FISH results and cordocentesis were normal .Placental location and maternal fetal surface were normal karyotype with 21-trisomy mosaicism karyotype , while fetal placenta and umbilical cord tissue surface were normal karyotype , which was known as confined placental mosaicism (CPM).Conclusion There are false positive results in DNA noninvasive prenatal testing .DNA noninvasive positive results have to be determined by amniocentesis and (or) cordocentesis.Amniocentesis suspected mosaicism needs to be diagnosed by cordocentesis .