| 李亚敏,栗河舟,李洁,樊慧.胎儿Meckel-Gruber综合征超声表现[J].中国医学影像技术,2021,37(5):731~734 |
| 胎儿Meckel-Gruber综合征超声表现 |
| Ultrasonographic manifestations of fetal Meckel-Gruber syndrome |
| 投稿时间：2020-05-19 修订日期：2021-01-18 |
| DOI：10.13929/j.issn.1003-3289.2021.05.022 |
| 中文关键词: Meckel-Gruber综合征 超声检查,产前 胎儿 |
| 英文关键词:Meckel-Gruber syndrome ultrasonography, prenatal fetus |
| 基金项目:河南省高等学校重点科研项目计划（15A320020）。 |
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| 中文摘要: |
| 目的 观察胎儿Meckel-Gruber综合征的超声表现。方法 回顾性分析5胎Meckel-Gruber综合征胎儿的产前超声表现、基因检测结果、病理结果及引产后表现。结果 5胎Meckel-Gruber综合征胎儿均经产前超声明确诊断，诊断孕周11+6~21+6。产前超声5胎均表现为脑膜（脑）膨出，4胎多囊性肾发育不良，4胎多指（趾）；伴发异常表现包括枕部颅骨缺损3胎，脑积水、Blake囊肿、小眼畸形、脊髓圆锥低位、肢体短小、胫骨短小并成角畸形、足内翻、羊水过少、无羊水各1胎。2胎接受基因检测，1胎结果为CEP290基因c.4240del和CEP290基因c.3777-3778del杂合突变，另1胎为MKS3基因c.1365C>T存在纯合突变。孕妇均选择终止妊娠，引产后大体标本所见与产前超声表现相符。对1胎引产后标本进行尸检，发现双侧多囊性肾发育不良。结论 Meckel-Gruber综合征胎儿超声表现具有特征性，产前超声可于早孕期明确诊断。 |
| 英文摘要: |
| Objective To observe the ultrasonographic manifestations of fetal Meckel-Gruber syndrome. Methods Prenatal ultrasonographic findings, genetic test results, pathological findings and post-induction manifestations of 5 fetuses with Meckel-Gruber syndrome were retrospectively analyzed. Results All 5 fetuses with Meckel-Gruber syndrome were confirmed by prenatal ultrasound, the gestational ages of prenatal diagnosis were 11+6-21+6 weeks. Prenatal ultrasonography showed bulging meningocele/encephalocele in all 5 fetuses, polycystic renal dysplasia and polydactyly each in 4 fetuses. The accompanied abnormalities included skull defect in occipital region in 3 fetuses and hydrocephalus, Blake cyst, microphthalmia, low position of conus medullaris, limb microsomia, tibia microsomia with angulation, pes varus, oligohydramnios and no amniotic fluid each in 1 fetus. One fetus showed heterozygous mutation of c.4240del in CEP290 gene and c.3777-3778del in CEP290 gene, another one had homozygous mutation of MKS3 gene c.1365C>T. All 5 fetuses were terminated after prenatal ultrasound diagnosis, and the gross specimens after labor induction were consistent with the prenatal ultrasound findings. Bilateral polycystic renal dysplasia were proved by autopsy in 1 case. Conclusion Ultrasonographic manifestations of fetal Meckel-Gruber syndrome were characteristic. Prenatal ultrasonography could make definite diagnosis of fetal Meckel-Gruber syndrome in early pregnancy. |
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