胎儿Meckel-Gruber综合征超声表现

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。

Ultrasonographic manifestations of fetal Meckel-Gruber syndrome

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.