摘要目的 探讨胎儿 Meckel-Gruber 综合征的产前诊断特点.方法 回顾性分析2005 年12 月至2016 年3 月厦门大学附属妇女儿童医院厦门市妇幼保健院产前诊断中心收治的胎儿 Meckel-Gruber 综合征病例8 例的临床资料,进一步分析其产前超声、胎儿尸检的畸形表现等.结果 8 例胎儿产前诊断孕周平均为 21 +4周(范围 13 +5 ~31 +1周) ,终止妊娠时其孕周为 16 ~31 +4周,8 例中有 3 例为复发病例(37. 5% ),胎儿尸检畸形类型包括脑膨出(8例,100% ) 、颅骨枕骨缺损(6 例,75% ) 、小头畸形(1 例,12. 5% ) 、大脑发育不良(2 例, 25% ) 、脑积水(2 例,25% ) 、多囊肾( 8 例,100% ) 、肾发育不良(1 例,12. 5% ) 、多指(趾)畸形(3 例,37. 5% ) 、四肢短小(1 例,12. 5% ) 、双下肢胫骨发育不良( 1 例,12. 5% ) 、足内翻(1 例,12. 5% ) 、先天性心脏病(4 例,50% ) 、肝纤维化(1 例,12. 5% ) .结论 Meckel-Gruber 综合征具有多种表现的严重结构畸形、累及范围广、再发风险高的特点,因此早期发现、正确评估胎儿病情、规范优生咨询,对降低出生缺陷有重大意义.

abstractsObjective To discuss clinical presentation and prenatal diagnosis of fetal Meckel-Gruber syndrome . Methods This is a retrospective study of all cases of fetal Meckel-Gruber syndrome ( n =8 ) registered in the Prenatal Diagnosis Center of Obstetrics , Women and Children’s Hospital , School of Medicine , Xiamen University from December 2 0 0 5 to March 2 0 1 6 , with further analysis on abnormal manifestation in congenital anomalies , prenatal ultrasound features and so on . Results These cases were diagnosed prenatally by ultrasound at 2 1 +4 ( range 1 3 +5 ~3 1 +1 ) gestational weeks and pregnancies were all terminated at week 1 6 ~3 1 +4 . The types and frequency of major congenital anomalies in this study in-cluded encephalocele ( 1 0 0 % ,8/8 ) , occipital skull defect ( 7 5 % ,6/8 ) , microcephaly ( 1 2 . 5 % ,1/8 ) , brain dysplasia ( 2 5 % ,2/8 ) , congenital hydrocephalus ( 2 5 % ,2/8 ) , polycystic kidney disease ( 1 0 0 % , 8/8 ) , renal dysplasia ( 1 2 . 5 % ,1/8 ) , polydactyly ( 3 7 . 5 % ,3/8 ) , short limbs ( 1 2 . 5 % ,1/8 ) , lower extremity tibia bone dysplasia ( 1 2 . 5 % ,1/8 ) , pesequinovarus ( 1 2 . 5 % ,1/8 ) , congenital heart disease ( 5 0 % ,4/8 ) , and fibrotic changes of the liver ( 1 2 . 5 % , 1/8 ) . Conclusion Meckel-Gruber syn-drome has a variety of serious structural abnormalities involving a wide range of diseases . There is also high risk of recurrence about it . The parents should be counseled about the prognosis and the outcome of the fetus . Early diagnosis is significant for timely counseling of affected couples regarding the options of pregnancy termination and prenatal genetic testing in future pregnancies . This bears great significance to-wards reducing birth defects .