| 张婕,简练,田湘英,王丽敏.皮埃尔·罗班序列征胎儿的产前超声表现[J].中国医学影像技术,2023,39(1):70~73 |
| 皮埃尔·罗班序列征胎儿的产前超声表现 |
| Prenatal ultrasonic findings of Pierre Robin sequence in fetus |
| 投稿时间：2022-08-24 修订日期：2022-11-06 |
| DOI：10.13929/j.issn.1003-3289.2023.01.016 |
| 中文关键词: 胎儿|皮埃尔·罗班综合征|腭裂|小颌畸形|舌后坠|超声检查,产前 |
| 英文关键词:fetus|Pierre Robin syndrome|cleft palate|micrognathism|glossoptosis|ultrasonography, prenatal |
| 基金项目:广东省医学科学技术研究基金项目(B2021110)。 |
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| 中文摘要: |
| 目的 观察皮埃尔·罗班序列征(PRS)胎儿产前超声表现。方法 回顾性分析15胎产前超声诊断并经引产证实的PRS胎儿产前超声所见和基因检查结果。结果 产前超声诊断4胎单纯PRS、11胎合并其他结构畸形;15胎均见不同程度小下颌及舌后坠,下颌面部角(IFA)为26°~49°,5胎下颌明显后缩;14胎见继发腭裂,漏诊1胎单纯软腭裂。之后8胎接受染色体检查,其中7胎未见异常,1胎检出7p22.3p14.3区域至少31.53 Mb片段重复、3p26.3926.1区域至少3.27 Mb片段杂合缺失;4胎同时接受基因检测,其中2胎为COL2AI基因杂合变异,1胎TCOF1基因杂合突变,1胎MSX2基因杂合变异。结论 PRS胎儿产前超声表现包括小下颌、舌后坠及腭裂,且多合并其他结构畸形。 |
| 英文摘要: |
| Objective To observe prenatal ultrasonic characteristics of Pierre Robin sequence (PRS) in fetus. Methods Data of prenatal ultrasound and genetic examinations of 15 PRS fetuses diagnosed with prenatal ultrasound and then confirmed with induction of labor were retrospectively analyzed. Results Prenatal ultrasound diagnosed pure PRS in 4 fetuses and PRS complicated with other structural deformities in 11 fetuses. Different degrees of micrognathia and glossoptosis were observed in all 15 fetuses, with inferior facial angle (IFA) of 26°—49°, and the mandibles significantly retracted in 5 fetuses. Secondary cleft palate was found in 14 fetuses, while simple soft cleft palate was missed in 1 fetus. Chromosome examination was performed in 8 fetuses, the results of 7 fetuses were normal, 1 fetus was found with at least 31.53 Mb segment duplication in 7p22.3p14.3 region and at least 3.27 Mb segment loss of heterozygosity in 3p26.3926.1 region. Genetic examination was performed in 4 fetuses among the above 8, and heterozygous variation of COL2AI gene was detected in 2 fetuses, while heterozygous variation of TCOF1 gene and heterozygous variation of MSX2 gene was detected each in 1 fetus. Conclusion Prenatal ultrasonic findings of PRS fetus included micrognathia, glossoptosis and cleft palate, often complicated with other structural deformities. |
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