Chen Lin, Du Jianming, Wang Junlong, Chen Shuangling, Wang Wei, Yang Wei, Zhang Yanying, Zhang Hui, Zhang Miao
Department of Laboratory Medicine, Harbin Red Cross Central Hospital, Harbin, China.
Transl Pediatr. 2022 Feb;11(2):212-218. doi: 10.21037/tp-22-16.
Bacterial artificial chromosome (BAC) marker-microsphere identification/separation technique [BACs-on-Beads (BoBs)] not only has a high detection rate for major chromosomal changes, but also for the other 9 microdeletion syndromes. In this study, the application value of BoBs combined with karyotype detection in prenatal diagnosis was evaluated.
The amniotic fluid samples of 132 pregnant women with prenatal diagnosis indications in Harbin Red Cross Central Hospital from June 2018 to June 2019 were collected and subjected to the detection of BoBs and routine karyotyping.
Among the 132 pregnant women's amniotic fluid samples, 30 cases were abnormal in BoBs detection, with a detection rate of 22.73%, and 29 cases were abnormal in chromosome karyotype analysis, with a detection rate of 21.97%. Among them, 1 case of DiGeorge Type I microdeletion syndrome BoBs was successfully detected. The karyotype analysis failed to detect the same syndrome; the total coincidence rate of two methods was 99.24%, the positive coincidence rate was 100.00%, and the negative coincidence rate was 99.03%; the sensitivity, specificity and positive predictive value (PPV), and negative predictive value (NPV) of the chromosome karyotype analysis was 96.67%, 100%, and 99.03%, respectively; the accuracy, specificity, and PPV/NPV of BoBs detection were 100%.
When BoBs technology is combined with chromosome karyotype analysis, it can increase the detection rate of fetal chromosomal abnormalities, which could provide a basis for clinical prevention and follow-up diagnosis and treatment.
细菌人工染色体（BAC）标记微球鉴定/分离技术[珠子上的BAC（BoBs）]不仅对主要染色体变化具有高检测率，而且对其他9种微缺失综合征也有高检测率。本研究评估了BoBs联合核型检测在产前诊断中的应用价值。
收集2018年6月至2019年6月在哈尔滨红十字中心医院有产前诊断指征的132例孕妇的羊水样本，进行BoBs检测和常规核型分析。
132例孕妇羊水样本中，BoBs检测异常30例，检测率为22.73%；染色体核型分析异常29例，检测率为21.97%。其中，成功检测出1例Ⅰ型迪格奥尔格微缺失综合征BoBs；核型分析未检测出相同综合征；两种方法总符合率为99.24%，阳性符合率为100.00%，阴性符合率为99.03%；染色体核型分析的敏感性、特异性、阳性预测值（PPV）和阴性预测值（NPV）分别为96.67%、100%和99.03%；BoBs检测的准确性、特异性及PPV/NPV均为100%。
BoBs技术与染色体核型分析联合应用时，可提高胎儿染色体异常的检测率，为临床预防及后续诊断治疗提供依据。
