PURPOSE: Emanuel syndrome is a rare chromosomal disorder characterized by severe 
mental retardation and multiple anomalies. The syndrome is caused by chromosomal 
imbalance due to a supernumerary derivative chromosome 22. Little is known 
regarding the characteristics of prenatal biochemical screening, or 
ultrasonographic markers in this syndrome. We aimed to identify a prenatal 
screening pattern characteristic of Emanuel Syndrome.
METHODS: We report the prenatal characteristics of five fetuses with Emanuel 
syndrome, four of which were diagnosed prenatally.
RESULTS: We found no consistent pattern of prenatal biochemical markers or other 
prenatal characteristics. Nevertheless, increased NT, low PAPP-A and ultrasound 
features such as intra uterine growth restriction, posterior fossa, cardiac and 
bowel abnormalities may be helpful in raising the suspicion for this rare 
genetic syndrome.
CONCLUSION: Review of the biochemical screening results, ultrasound findings, 
and demographic characteristics of this Emanuel syndrome case series, as well as 
of the relevant literature fail to suggest a characteristic prenatal pattern.