Yao H, Jiang F, Hu H, Gao Y, Zhu Z, Zhang H, Wang Y, Guo Y, Liu L, Yuan Y, Zhou L, Wang J, Du B, Qu N, Zhang R, Dong Y, Xu H, Chen F, Jiang H, Liu Y, Zhang L, Tian Z, Liu Q, Zhang C, Pan X, Yang S, Zhao L, Wang W, Liang Z
Prenatal Diagnosis Center, Department of Gynecology & Obstetrics, Southwest Hospital, the Third Military Medical University, Chongqing, China.
Ultrasound Obstet Gynecol. 2014 Jul;44(1):17-24. doi: 10.1002/uog.13361.
To evaluate the performance of a massively parallel sequencing (MPS)-based test in detecting fetal sex chromosome aneuploidy (SCA) and to present a comprehensive clinical counseling protocol for SCA-positive patients.
This was a retrospective study in a large patient cohort of 5950 singleton pregnancies which underwent MPS-based testing as a prenatal screening test for trisomies 21, 18 and 13, with X and Y chromosomes as secondary findings, in Southwest Hospital in China. MPS-based SCA-positive women were offered the choice of knowing whether their SCA results were positive and those who did commenced a two-stage post-test clinical counseling protocol. In Stage 1, general information about SCA was given, and women were given the option of invasive testing for confirmation of findings; in Stage 2, those who had chosen to undergo invasive testing were informed about the specific SCA affecting their fetus and their management options.
Thirty-three cases were classified as SCA-positive by MPS-based testing. After Stage 1 of the two-stage post-test clinical counseling session, 33 (100%) of these pregnant women chose to know the screening test results, and 25 (75.76%) underwent an invasive diagnostic procedure and karyotype analysis, in one of whom karyotyping failed. In thirteen cases, karyotyping confirmed the MPS-based test results (two X0 cases, seven XXX cases, three XXY cases and one XYY case), giving a positive predictive value of 54.17% (13/24 cases confirmed by karyotyping). After post-test clinical counseling session Stage 2, seven women chose to terminate the pregnancy: one X0 case, two XXX cases, the three XXY cases and the single XYY case. Six women decided to continue with pregnancy: one X0 case and five XXX cases.
Our study showed the feasibility of clinical application of the MPS-based test in the non-invasive detection of fetal SCA. Together with a two-stage post-test clinical counseling protocol, it leads to a well-informed decision-making procedure.
评估基于大规模平行测序（MPS）的检测在检测胎儿性染色体非整倍体（SCA）方面的性能，并为SCA阳性患者提供全面的临床咨询方案。
这是一项在中国西南医院对5950例单胎妊娠患者进行的回顾性研究，这些患者接受了基于MPS的检测，作为21、18和13三体的产前筛查检测，X和Y染色体作为次要检测结果。对于基于MPS检测为SCA阳性的女性，她们可以选择了解其SCA检测结果是否为阳性，而那些选择了解的女性则开始接受两阶段的检测后临床咨询方案。在第一阶段，提供有关SCA的一般信息，并让女性选择进行侵入性检测以确认检测结果；在第二阶段，那些选择接受侵入性检测的女性被告知影响其胎儿的具体SCA情况及其管理选择。
基于MPS的检测将33例分类为SCA阳性。在两阶段检测后临床咨询阶段的第一阶段，这些孕妇中有33例（100%）选择了解筛查检测结果，25例（75.76%）接受了侵入性诊断程序和核型分析，其中1例核型分析失败。在13例中，核型分析证实了基于MPS的检测结果（2例X0、7例XXX、3例XXY和1例XYY），阳性预测值为54.17%（核型分析确认的24例中有13例）。在检测后临床咨询阶段的第二阶段后，7名女性选择终止妊娠：1例X0、2例XXX、3例XXY和1例XYY。6名女性决定继续妊娠：1例X0和5例XXX。
我们的研究表明基于MPS的检测在胎儿SCA无创检测中的临床应用可行性。结合两阶段检测后临床咨询方案，可形成明智的决策程序。
