Objective

To evaluate the prognosis of fetuses with a prenatal diagnosis of micrognathia in the first trimester.

Study design

Over a 3-year period, patients with fetal micrognathia were detected at the time of nuchal translucency screening. The medical records of these pregnancies were reviewed, including maternal demographics, sonographic findings, genetic testing results and pregnancy outcomes.

Results

Forty-three cases of first-trimester micrognathia were included in this study. Chromosomal abnormalities were detected in seven cases. Of the fetuses with a normal array, further investigation of monogenic disorders with whole-exome sequencing was undertaken in 13 cases. Monogenic syndromes were identified in eight cases, including six with de-novo dominant alleles and two with recessive conditions. Whole-exome sequencing was refused in 23 cases; among these, other additional anomalies were found on anatomic ultrasound in 10 cases.

Conclusion

This study demonstrated that caution should be adopted when finding an apparently isolated micrognathia in early gestation, even with a normal array. A diagnosis of genetic syndrome or multiple anomalies on subsequent scans is most likely, and will affect the final prognosis.

中文翻译：

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妊娠头三个月的胎儿小颌畸形：即使在正常阵列后也是一个不祥的发现

客观的

评估胎儿在孕早期产前诊断为小颌畸形的预后。

学习规划

在 3 年的时间里，在颈部半透明筛查时检测到胎儿小颌畸形患者。审查了这些怀孕的医疗记录，包括母亲的人口统计学、超声检查结果、基因检测结果和怀孕结果。

结果

本研究包括 43 例早孕期小颌畸形病例。在七例中检测到染色体异常。在具有正常阵列的胎儿中，对 13 例进行了全外显子测序的单基因疾病的进一步调查。在 8 个病例中发现了单基因综合征，其中 6 个具有从头显性等位基因，2 个具有隐性条件。23例全外显子测序被拒绝；其中，10例解剖超声发现其他异常。

结论

这项研究表明，在妊娠早期发现明显孤立的小颌骨时，即使阵列正常，也应谨慎行事。最有可能在随后的扫描中诊断出遗传综合征或多种异常，并将影响最终的预后。