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文献速递母胎医学产科

孕中期胎儿左右轴缺陷的遗传学检测结果

Genetic Investigation of Fetal Left-Right Laterality Defects Identified in the Second Trimester of Pregnancy.
PubMed 文献 · Prenat Diagn · 2026-04-15

该回顾性研究纳入138例孕中期超声诊断左右轴缺陷的胎儿，所有病例均行CMA检测CNV，CNV阴性者可选做trio ES。CMA未发现临床显著CNV，97例完成trio ES，8例（8.2%）获得明确分子诊断，另7例检出VUS，ES总体诊断率为15.5%（15/97）。

要点

  • 孕中期发现的左右轴缺陷应行全面胎儿解剖评估及侵入性遗传学检测
  • CMA在左右轴缺陷胎儿中未检出临床显著CNV
  • trio ES在左右轴缺陷胎儿中总体诊断率为15.5%

核心结论

  • 单基因病因仅见于小部分左右轴缺陷胎儿，但在产前发现该异常仍应进行全面胎儿解剖评估和侵入性遗传学检测。

研究设计与样本

  • 回顾性研究纳入138例孕中期解剖超声诊断左右轴缺陷的胎儿，其中79例为完全性内脏反位（SIT），59例为内脏异位（SA）。
  • 所有病例均行CMA检测CNV，CNV阴性者可选做trio ES；97例完成trio ES，包括61例SIT和36例SA。

主要发现

  • 138例胎儿CMA均未发现临床显著CNV。
  • 97例完成trio ES的病例中，8例（8.2%）获得由（可能）致病性变异支持的明确分子诊断。
  • 另7例检出VUS，涉及基因DNAH5、DNAH11、TTC21B、SMAD2、BBS7和DNAI1，均与纤毛病或左右轴缺陷相关。
  • ES对左右轴缺陷的总体诊断率为15.5%（15/97）。

关键数值与推荐

  • CMA在138例左右轴缺陷胎儿中均未检出临床显著CNV。
  • trio ES明确分子诊断率为8.2%（8/97），总体诊断率为15.5%（15/97）。

临床怎么用

  • 孕中期超声发现胎儿左右轴缺陷时，建议行全面胎儿解剖评估并告知侵入性遗传学检测的选择。
  • CMA可作为初始检测，CNV阴性者可进一步行trio ES以寻找单基因病因。

以上解读依据论文摘要（全文未开放获取或许可不允许翻译转载）。

原文

OBJECTIVE: To explore genetic investigative results in fetuses with left-right (LR) laterality defects. METHODS: This was a retrospective study of 138 cases with LR defects diagnosed on second trimester anatomy ultrasound. All cases underwent invasive prenatal diagnosis for copy number variant (CNV) detection by chromosomal microarray analysis (CMA). For those with a negative CNV, trio exome sequencing (ES) was an option. RESULTS: A total of 138 fetuses, including 79 cases of situs inversus totalis (SIT) and 59 of situs ambiguous (SA), underwent CMA, and none of which revealed clinically significant CNVs. Trio-based ES was performed in 97 cases, including 61 with SIT and 36 with SA. Definitive molecular diagnoses - supported by (likely) pathogenic variants - were established in 8 cases (8.2%). VUS was identified in seven additional cases; all affected genes (DNAH5, DNAH11, TTC21 B, SMAD2, BBS7 and DNAI1) have been reported in association with ciliopathies or LR defects. Collectively, the overall diagnostic yield of ES for LR defects was 15.5% (15/97). CONCLUSIONS: Although monogenic causes were identified in only a small subset of LR defective fetuses, the identification of this condition in the prenatal setting warrants comprehensive fetal anatomic evaluation and invasive genetic testing.

来源：Prenat Diagn，查看原文。版权归原作者所有。

引用

  1. Yu QX, Guo JC, Zhang YL, et al. Genetic Investigation of Fetal Left-Right Laterality Defects Identified in the Second Trimester of Pregnancy. Prenat Diagn. 2026. PMID: 41987553. doi:10.1002/pd.70152
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供执业医师工作参考，不替代临床判断；数值与分级以指南原文为准。