细菌人工染色体标记-微球鉴别/分离法在产前诊断中的临床应用价值

目的:探讨细菌人工染色体标记-微球鉴别/分离法(BoBs)在产前诊断中的临床应用价值。方法:对2015年1月至2018年4月空军军医大学第一附属医院4882例有产前诊断指征的孕妇羊水细胞行染色体核型分析和BoBs检测,检测结果进行比较分析。结果:4882例羊水中共检出胎儿染色体异常289例,异常检出率5.92%。其中染色体核型分析检出271例,BoBs检出266例。不同产前诊断指征下,无创产前检测高风险组的染色体异常检出率最高,占56.00%。289例异常核型中,染色体非整倍体239例,BoBs检测结果与染色体核型分析结果吻合;染色体微缺失/微重复综合征21例,染色体核型分析仅检出3例;性染色体嵌合11例,BoBs检出6例;染色体结构异常18例,BoBs均未检出。结论:BoBs技术是一种可靠的检测技术,可以全面快速检测胎儿染色体非整倍体及9种常见的微缺失/微重复综合征,与染色体核型分析联合可以提高产前诊断的效率及准确性,具有较高的临床应用价值。

Clinical Value of Bacterial Artificial Chromosomes-on-Beads Assay in Prenatal Diagnosis

Objective: To study the clinical value of bacterial artificial chromosomes-on-beads( BoBs) assay in prenatal diagnosis.Methods: BoBs and chromosomal karyotyping were used for detecting amniotic fluid cells with indications of 4882 cases for prenatal diagnosis during January 2015 to April 2018 in the First Affiliated Hospital of Air Force Medical University.Results: A total of 289 chromosomal abnormalities were found in these 4882 sam- ples,and the overall abnormality detection rate was 5. 92%.271 abnormalities were detected by chromosomal karyotyping and 266 by BoBs assay.In different indications of prenatal diagnosis,high-risk group of noninvasive prenatal testing accounted for the highest abnormality,at 56. 00%.Moreover,239 chromosomal aneuploidies were detected by both chromosomal karyotyping and BoBs assay.21 microdeletion/microduplication syndromes were successfully detected by BoBs and only 3 cases were found by karyotyping.11 mosaic cases were examined by karyotyping,and only 6 cases were identified by BoBs assay.Meanwhile,18 structural abnormalities were detected by karyotyping,but missed by BoBs assay.Conclusions: BoBs assay is a reliable test for rapid detection of chromosomal aneuploidies and 9 microdeletions microduplications.A combination of BoBs and chromosomal karyotyping greatly improves the efficiency and accuracy of prenatal diagnosis,and provides an important clinical value.