针对超声软指标异常的中孕期胎儿，应提供染色体微阵列分析吗？一项前瞻性队列研究和荟萃分析。
Should chromosomal microarray be offered to fetuses with ultrasonographic soft markers in second trimester: A prospective cohort study and meta-analysis.
机构信息
International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China.
出版信息
Prenat Diagn. 2020 Dec;40(12):1569-1577. doi: 10.1002/pd.5815. Epub 2020 Aug 31.
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.
目的
评估在妊娠中期是否应向超声软指标（USMs）异常的胎儿提供染色体微阵列（CMA）检查。
方法
进行了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 USMs 异常的胎儿。在荟萃分析中，纳入了描述 USMs 异常胎儿拷贝数变异的合格文章。
结果
在前瞻性队列研究中，与局部对照超声正常的胎儿相比，CMA 对轻度脑室扩张（MVM）胎儿的诊断检出率明显高于非侵入性产前检测（NIPT）和核型分析。然而，CMA 对其他 USMs 胎儿的诊断检出率与对照组相似。Meta 分析共纳入了 10 项研究，涉及 405 例 MVM 胎儿和 1412 例其他 USMs 胎儿。MVM 胎儿中 CMA 对 NIPT 和核型分析的汇总诊断检出率分别为 4.9%和 3.2%。在其他 USMs 胎儿中，CMA 对 NIPT 和核型分析的检出率分别为 1.2%和 0.4%。
结论
向 MVM 胎儿提供 CMA 作为一线检测是合理的。然而，对于其他 USMs 胎儿，进行 CMA 的考虑不应与正常超声妊娠有所不同。
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