Jiang Yu, Zhang Jian, Wu Lili, Wang Wenbo, Guo Qiwei
Prenatal Diagnosis Centre, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian 361003, P.R. China.
Department of Obstetrics and Gynecology, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian 361003, P.R. China.
Exp Ther Med. 2021 Feb;21(2):121. doi: 10.3892/etm.2020.9553. Epub 2020 Dec 3.
Prenatal BACs-on-Beads™ (PNBoBs™) technology has been approved for use in routine clinical prenatal diagnosis in numerous countries. However, the influence of data interpretation on the accuracy of the results remains to be evaluated. The present study aimed to determine the accuracy of existing data interpretation approaches and develop an optimization method to improve the performance of the PNBoBs™ assay in prenatal diagnosis. A total of 2,289 prenatal cases with known karyotypes and raw ratio data from PNBoBs™ assays were recruited for the present study. Positive results, according to the data interpretation methods used for the PNBoBs™ test, were validated against current gold-standard approaches. Statistical analyses were then performed to evaluate the accuracy of existing methods in data interpretation to provide a basis for the optimization of a follow-up approach. Among the existing methods, the 'trimmed standard deviation threshold' approach had the highest sensitivity and false-positive rates, with 98.1 and 4.2%, respectively. The 'n-1 or greater probes' rule had the highest specificity (99.7%) and the second-highest false-negative rate (11.5%). The method optimized in the present study provided a reasonable balance between sensitivity (98.1%) and specificity (99.6%) with regards to the interpretation of the data obtained from the PNBoBs™ assay. The results indicated that the present optimization method outperforms existing approaches in data interpretation for the PNBoBs™ assay, and as a result, may reduce unnecessary verification turnaround time and cost in prenatal diagnosis.
产前珠上BACs™（PNBoBs™）技术已在许多国家被批准用于常规临床产前诊断。然而，数据解读对结果准确性的影响仍有待评估。本研究旨在确定现有数据解读方法的准确性，并开发一种优化方法以提高PNBoBs™检测在产前诊断中的性能。本研究共纳入了2289例已知核型且有PNBoBs™检测原始比率数据的产前病例。根据用于PNBoBs™检测的数据解读方法得出的阳性结果，对照当前的金标准方法进行验证。然后进行统计分析，以评估现有数据解读方法的准确性，为后续方法的优化提供依据。在现有方法中，“修剪标准差阈值”方法具有最高的灵敏度和假阳性率，分别为98.1%和4.2%。“n - 1或更多探针”规则具有最高的特异性（99.7%）和第二高的假阴性率（11.5%）。本研究中优化的方法在解读PNBoBs™检测获得的数据时，在灵敏度（98.1%）和特异性（99.6%）之间提供了合理的平衡。结果表明，本优化方法在PNBoBs™检测的数据解读方面优于现有方法，因此可能减少产前诊断中不必要的验证周转时间和成本。
