To discuss clinical presentation and prenatal diagnosis of fetal Meckel-Gruber syndrome.

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 2005 to March 2016, with further analysis on abnormal manifestation in congenital anomalies, prenatal ultrasound features and so on.

These cases were diagnosed prenatally by ultrasound at 21^{+ 4} (range 13^{+ 5}~31^{+ 1}) gestational weeks and pregnancies were all terminated at week 16~31^{+ 4}. The types and frequency of major congenital anomalies in this study included encephalocele(100%, 8/8), occipital skull defect(75%, 6/8), microcephaly(12.5%, 1/8), brain dysplasia(25%, 2/8), congenital hydrocephalus(25%, 2/8), polycystic kidney disease(100%, 8/8), renal dysplasia(12.5%, 1/8), polydactyly(37.5%, 3/8), short limbs(12.5%, 1/8), lower extremity tibia bone dysplasia (12.5%, 1/8), pesequinovarus(12.5%, 1/8), congenital heart disease(50%, 4/8), and fibrotic changes of the liver(12.5%, 1/8).

Meckel-Gruber syndrome 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 towards reducing birth defects.

Meckel-Gruber syndrome; Fetal autopsy; Prenatal diagnosis