Kwan Angel H W, Zhu Xiaofan, Mar Gil Maria, Kwok Yvonne K Y, Wah Isabella Y M, Hui Annie S Y, Ting Yuen-Ha, Law Kwok-Ming, Lau Doris, Xue Shuwen, Choy Kwong-Wai, Sahota Daljit, Leung Tak-Yeung, Poon Liona C
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Diagnostics (Basel). 2022 Oct 9;12(10):2439. doi: 10.3390/diagnostics12102439.
This study aimed to compare the screening performance of genome-wide cfDNA testing for chromosomal abnormalities between two periods where additional findings were reported and not reported. Data were obtained from consecutive pregnant women with a singleton pregnancy at ≥10 weeks who requested cfDNA testing during 2015-2019. The performance of screening of the cfDNA test was determined by calculating the concordance rate, detection rate, and false-positive rate. Data from 3981 women were included. The no-result rates were similar between the two reporting periods (2.04% vs. 2.08%). Concordance rates for trisomy 21 and 18 were 100% and 100%, respectively. There were two cases tested high risk for trisomy 13, with a concordance rate of 0%. In total, 12 cases were high risk for any sex chromosome aneuploidy with an overall concordance of 75%, and 15 cases tested high risk for any rare autosomal trisomy, with a 13.3% concordance rate. The detection rates for trisomy 21 and 18 were 100% and 100%, respectively. For any SCA, the detection rate was 90%. For the two reporting periods, the combined false-positive rates were 0.93% and 0.17%, which were significantly different ( = 0.002). Restricting the reporting of additional findings from genome-wide cfDNA analysis has reduced the false-positive rate but without a reduction in the no-result rate.
本研究旨在比较在报告了额外发现和未报告额外发现的两个时期，全基因组cfDNA检测对染色体异常的筛查性能。数据来自2015 - 2019年期间连续的单胎妊娠且孕周≥10周并要求进行cfDNA检测的孕妇。通过计算一致性率、检测率和假阳性率来确定cfDNA检测的筛查性能。纳入了3981名女性的数据。两个报告期的无结果率相似（2.04%对2.08%）。21三体和18三体的一致性率分别为100%和100%。有2例13三体检测为高风险，一致性率为0%。总共有12例性染色体非整倍体检测为高风险，总体一致性为75%，15例罕见常染色体三体检测为高风险，一致性率为13.3%。21三体和18三体的检测率分别为100%和100%。对于任何性染色体非整倍体，检测率为90%。对于两个报告期，合并假阳性率分别为0.93%和0.17%，差异有统计学意义（ = 0.002）。限制全基因组cfDNA分析中额外发现的报告降低了假阳性率，但无结果率没有降低。
