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目的对近5年来宁波市妇女儿童医院产前诊断确诊的227例染色体病例进行回顾分析,初步探讨无创性产前诊断技术是否可以完全取代目前的介入性产前诊断技术。方法与结果 2008年1月至2012年12月在宁波市妇女儿童医院施行产前诊断羊水穿刺术7822例,检出染色体异常胎儿227例,其中21三体综合征78例,18三体综合征25例,13三体综合征3例,性染色体异常36例,其他染色体异常85例。而通过国际、国内同类型临床应用研究显示:基于测序的无创DNA检测技术,对于21-三体、18-三体及13-三体均具有极高的检出率与准确性,但对此以外的其它染色体数目异常及性染色体异常,建议临床医生结合临床、B超及其它检测结果综合评判,而对于染色体的微缺失、微重复以及结构异常(嵌合体型、易位型)则无法对其进行检测[1]。结论目前的无创性产前诊断技术仍不能完全替代现有的介入性的产前诊断技术。
Objective To retrospectively analyze 227 cases of chromosomal diagnoses confirmed by prenatal diagnosis in Ningbo Women and Children’s Hospital in the past 5 years and to investigate whether noninvasive prenatal diagnosis can completely replace the current interventional prenatal diagnosis. Methods and Results From January 2008 to December 2012, 7822 cases of prenatal diagnosis of amniocentesis were performed in Ningbo Women and Children’s Hospital. Twenty-seven fetuses with chromosomal abnormalities were detected, including 21 trisomy 21 and trisomy 18 25 cases, 13 trisomy syndrome in 3 cases, 36 cases of chromosomal abnormalities, 85 cases of other chromosomal abnormalities. And through the international and domestic research on the same type of clinical application shows that: based on sequencing noninvasive DNA detection technology for the 21-trisomy, 18-trisomy and 13-trisomy have a very high detection rate and accuracy, but this Other than chromosomal abnormalities and sex chromosome abnormalities, clinicians recommended combined clinical, B- and other test results comprehensive evaluation, and for chromosomes microdeletions, micro-duplication and structural abnormalities (chimera, translocation) can not be It is tested [1]. Conclusion The current noninvasive prenatal diagnosis techniques still can not completely replace the existing interventional prenatal diagnosis techniques.