Should chromosomal microarray be offered to fetuses with ultrasonographic soft markers in second trimester: A prospective cohort study and meta-analysis
Should chromosomal microarray be offered to fetuses with ultrasonographic soft markers in second trimester: A prospective cohort study and meta-analysis
复制标题
是否应在妊娠中期向具有超声软标记的胎儿提供染色体微阵列：一项前瞻性队列研究和荟萃分析
DOI：
10.1002/pd.5815
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发表时间：
2020-08-31
影响因子：
3
通讯作者：
Xu, Chenming
中科院分区：
文献类型：
--
作者：
Li, Shuyuan;Han, Xu;Xu, Chenming
目的 评估是否应向孕中期超声软指标（USMs）胎儿提供染色体微阵列分析（CMA）。方法 进行了一项前瞻性队列研究和荟萃分析。在前瞻性队列研究中，纳入了564例有超声软指标的胎儿。在荟萃分析中，纳入了描述有超声软指标胎儿拷贝数变异的符合条件的文章。结果 在前瞻性队列研究中，在轻度脑室扩张（MVM）胎儿中，CMA相对于无创产前检测（NIPT）和核型分析的诊断率显著高于超声正常的本地对照队列。然而，在有其他超声软指标的胎儿中，CMA相对于NIPT和核型分析的诊断率与对照组相似。荟萃分析纳入了约10项研究，涉及405例轻度脑室扩张胎儿和1412例有其他超声软指标的胎儿。在轻度脑室扩张胎儿中，CMA相对于NIPT和核型分析的汇总诊断率分别为4.9%和3.2%。在有其他超声软指标的胎儿中，CMA相对于NIPT和核型分析的诊断率分别为1.2%和0.4%。结论 向轻度脑室扩张胎儿提供CMA作为一线检测是合理的。然而，对于有其他超声软指标的胎儿，进行CMA的考虑应与超声正常的妊娠无差异。
Objective To evaluate whether chromosomal microarray (CMA) should be offered to fetuses with ultrasonographic soft markers (USMs) in the second trimester. Methods A prospective cohort study and meta-analysis were conducted. In the prospective cohort study, 564 fetuses with USMs were enrolled. In the meta-analysis, eligible articles describing copy number variations in fetuses with USMs were included. Results In the prospective cohort study, the diagnostic yields of CMA over non-invasive prenatal testing (NIPT) and karyotyping were significantly higher in fetuses with mild ventriculomegaly (MVM) than those in local control cohorts with normal ultrasound. However, the yields of CMA over NIPT and karyotyping in fetuses with other USMs were similar to controls. About ten studies, involving 405 fetuses with MVM and 1412 fetuses with other USMs, were included in the meta-analysis. The pooled diagnostic yields of CMA over NIPT and karyotyping in fetuses with MVM were 4.9% and 3.2%, respectively. In fetuses with other USMs, the yields of CMA over NIPT and karyotyping were 1.2% and 0.4%, respectively. Conclusion It is reasonable to offer CMA as a first-tier test to fetuses with MVM. However, for fetuses with other USMs, the considerations to perform CMA should not differ from pregnancies with normal ultrasound.