부산대학교 도서관

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.