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目的评估产前Bo Bs及荧光原位杂交(fluorescence in situ hybridization,FISH)两种快速检测技术在产前诊断中的应用价值。方法回顾性分析2014年3月至2016年6月在金华市妇幼保健院进行羊水细胞染色体核型分析产前诊断的孕妇1706例,其中1184例进行产前Bo Bs检测与核型分析,另522例行FISH检测与核型分析,观察两种快速检测技术在产前诊断中的应用价值。结果产前Bo Bs共检测出染色体异常33例,检出率为2.79%,其中22例为染色体数目异常,11例染色体结构异常;FISH共检出染色体异常11例,检出率为2.11%,其中9例为染色体数目异常,2例为嵌合体。两种快速检测技术对常见染色体(21,18,13,X,Y)非整倍体的检测与染色体核型分析技术检测一致,但产前Bo Bs能对9种常见微缺失/重复进行检测。结论两种检测技术在试剂范围内均未出现假阴性结果,但产前Bo Bs试剂检出范围优于FISH,能检出更多染色体异常情况。
Objective To evaluate the value of prenatal Bo Bs and fluorescence in situ hybridization (FISH) in rapid detection of prenatal diagnosis. Methods A retrospective analysis of 1706 pregnant women with prenatal diagnosis of amniotic fluid cytoplasmic karyotype analysis from March 2014 to June 2016 in Jinhua Maternal and Child Health Hospital was conducted. Among them, 1184 cases were detected by prenatal Bo Bs and karyotype analysis. Another 522 Routine FISH and karyotype analysis were performed to observe the value of two rapid detection techniques in prenatal diagnosis. Results 33 cases of chromosomal abnormalities were detected in prenatal Bo Bs, the detection rate was 2.79%, of which 22 cases were abnormal chromosome number and 11 cases were chromosomal abnormalities. FISH detected 11 cases of chromosomal abnormalities with a detection rate of 2.11% Nine of them were abnormal in chromosome number and two were chimeras. Detection of aneuploidy on common chromosomes (21, 18, 13, X, Y) by both rapid detection techniques is consistent with the detection of karyotype analysis, but prenatal Bo Bs can detect nine common microdeletions / duplications . Conclusions Both of the two detection methods do not show false negative results in the range of reagents, but the detection range of prenatal Bo Bs reagent is better than that of FISH, which can detect more chromosomal abnormalities.