| 麦明琴,熊盈,周伟宁,黄伟伟,秦丹卿,张琪.QF-PCR在5358例地中海贫血产前诊断中对常见染色体病的诊断价值[J].实用中西医结合临床,2017,17(4): |
| QF-PCR在5358例地中海贫血产前诊断中对常见染色体病的诊断价值 |
| The value of QF-PCR tests in the prenatal diagnosis of 5358 cases of thalassemia for excluding fetal aneuploidies |
| 投稿时间：2017-04-17 修订日期：2017-05-05 |
| DOI： |
| 中文关键词: 产前诊断 荧光定量PCR 染色体非整倍体 地中海贫血 |
| 英文关键词: prenatal diagnosis QF-PCR aneuploidy thalassemia |
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| 中文摘要: |
| 目的 研究荧光定量 PCR(quantitative fluorescent polymerase chain reaction, QF-PCR)技术在地中海贫血(简称地贫)产前诊断病例中对常见非整倍体染色体的检测作用,了解此方法的运用对地中海贫血产前诊断同时快速排除胎儿常见染色体病的诊断价值。方法回顾分析2015年1月～2017年1月因夫妇双方为同型地贫在我院医学遗传中心行介入性产前诊断(取样标本包括绒毛、羊水与脐血)检测胎儿地贫基因,同时行QF-PCR快速诊断常见染色体数目异常的5358例产前诊断结果。总结常见非整倍体染色体病在这组人群的检出率,QF-PCR异常而地贫基因正常或轻型的病例再次行胎儿染色体核型分析验证。结果 5358例地贫产前诊断标本中, 所有样本均同时行QF-PCR检测,选用STR(short tandem repeat,STR)位点排查胎儿常见染色体非整倍体异常(13、18、21、X与Y染色体),共检测出染色体异常占0.47%(25/5358),其中4例合并重型地贫,胎儿引产未行染色体核型分析,其余21例均行染色体核型分析确诊结果一致。 结论 QF-PCR技术定量分析STR多态性位点能准确、快速诊断常见非整倍体染色体病,是产前诊断中不可缺少的重要检验方法,在常规地贫产前诊断病例中运用能避免漏诊染色体异常胎儿。 |
| 英文摘要: |
| Objective To analyze the value of QF-PCR (quantitative fluorescent polymerase chain reaction, QF-PCR) tests in the prenatal diagnosis of 5358 cases of thalassemia for excluding fetal aneuploidies.Methods Totally 5358 cases with the same parental gene type of thalassemia were underwent invasive prenatal diagnosis (included chorionic villus sampling, amniocentesis and cordocentesis) between Jan 2015 to Jan 2017 in our center, together with the tests of QF-PCR for rapidly excluding the fetus aneuploidies were diagnosed and find out the abnormal ratio in this group. All the abnormal cases were diagnosed with G-band karyotyping, the same chromosome abnormalities were proved. Results In these 5358 cases, QF-PCR with short tandem repeat(STR) polymorphic markers were used to test the fetuses aneuploidies(13, 18, 21,X and Y), the rate of aneuploidy was 0.47%(25/5358). 4 abnormal QF-PCR cases occurred in thalassemia major, those fetuses were carried out termination of pregnancy without karyotyping. Other 21 cases were with karyotyping accordantly to the QF-PCR tests. Conclusions QF-PCR with STR markers was the effective way for prenatal diagnosis of aneuploidies accurate and quick. We recommend QF-PCR as the first line to exclude common chromosomal abnormalities in thalassemia prenatal diagnosis cases. |
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