227例染色体病胎儿病例的回顾分析

A retrospective analysis of 227 cases of fetal chromosomal diseases patients

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： In recent 5 years were retrospectively analyzed in 227 cases of prenatal diagnosis of chromosome disease in women and Children＇ s Hospital of Ningbo City, explore if non-invasive prenatal diagnosis technology can replace the invasive prenatal diagnosis technology in the present. Methods： 2008 January to 2012 December, in the prenatal diagnosis of outpatient Women and Children Hospital of Ningbo City had 7822 patients with prenatal diagnosis of amniotic fluid puncture, in which were 227 cases of fetal chromosomal abnormalities. In those 227 cases of prenatal diagnosis of chromosomal disease cases, there were 78 cases of 21 Wisomy syndrome, 25 cases of trisomy 18 syndrome, 3 cases of trisomy 13 syndrome, 36 cases of abnormal sex chromosome, and 85 cases of other abnormal chromosome or chromosome disease Chimera. Through the nation, Mestic studies on clinical application have the same type of display： noninvasive detection technology based on DNA sequencing, the detection rate and accuracy for 21-, 18-and 13-trisomy of chromosome abnormalities. But the number of the other outside and chromosomal abnormalities, we suggest that clinicians evaluate results according to their clinical experience, B-scan results and other detection eomprehensives. If there are also other abnormal test results （such as B-scan found malformations） , we suggest amniotic fluid or blood puncture, and the deletion, chromosome duplication and structural abnormalities （Chimera type and Translocation type） , DNA noninvasive detection technique will be unable to detect them. Conclusion： prenatal diagnosis of invasive prenatal diagnosis technologies still can＇ t replace the interventional existing conclusion at present.