OBJECTIVE: To carry out genetic analysis for a fetus with Dandy-Walker 
malformation and provide prenatal diagnosis for its parents during the 
subsequent pregnancy.
METHODS: Routine G-banding was carried out to analyze the karyotype of the fetus 
and its parents, and next-generation sequencing (NGS) and fluorescence in situ 
hybridization (FISH) were used to verify the result.
RESULTS: The father showed a normal karyotype, while the mother was found to 
carry a balanced t(11; 22) (q23; q11) translocation. NGS and FISH analysis 
verified that the supernumerary marker chromosome carried by the fetus was 
der(22) t(11; 22) (q23;q11). The fetus was diagnosed with Emanuel syndrome. 
During the next pregnancy, the fetus was found to carry the same balanced 
translocation as its mother. After genetic counseling, the couple decided to 
continue with the pregnancy, and eventually delivered a healthy baby.
CONCLUSION: A fetal case of Emanuel syndrome has been identified. The derivative 
der(22) t(11; 22)(q23; q11) chromosome probably underlies the Dandy-Walker 
malformation in the fetus. Combined cytogenetic and molecular analyses can 
attain a more precise diagnosis for fetal abnormalities detected by 
ultrasonography.