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目的分析应用无创基因检测技术对50例高危胎儿的产前诊断过程。方法选取2012年7月-2015年2月在该中心进行筛查的高危及可疑高危孕妇50例为研究对象,应用无创基因检测技术对其进行羊水细胞荧光原位杂交及培养/核型分析并确诊。结果羊水细胞荧光原位杂交检测到43例数目异常,其中2例经核型检测确认为[46,XX,+der(18;21)(p11.3;q11),+21]和[46,XX,rob(14;21)(q10;q10),+21];另外7例数目正常的胎儿经检测有3例核型异常,分别为[46,XX,22pstk+]、[46,XX,15ph+]、[46,XY,add(3)(p26.3)]。结论无创基因检测胎儿染色体异常能检测出易位型21-三体,有可能取代目前的产前筛查方式,并最终成为无创性胎儿非整倍体检测的产前诊断工具。
Objective To analyze the prenatal diagnosis of 50 high-risk fetuses using noninvasive genetic testing. Methods Fifty cases of high-risk and suspected high-risk pregnant women who screened at the center from July 2012 to February 2015 were selected as the research objects. Non-invasive genetic testing was used to detect amniotic fluid cells by fluorescence in situ hybridization and culture / karyotype analysis. Confirmed. Results A total of 43 cases were detected by fluorescence in situ hybridization. Among them, 2 cases were confirmed by karyotype detection as 46, XX, + der (18; 21) (p11.3; q11), +21] and [46, The other seven normal fetuses were detected as abnormal karyotypes [46, XX, 22pstk +], [46, XX, 15ph + ], [46, XY, add (3) (p26.3)]. Conclusion Noninvasive gene detection of fetal chromosomal abnormalities can detect translocated 21-trisomy, which may replace the current prenatal screening methods and eventually become a prenatal diagnostic tool for noninvasive fetal aneuploidy detection.