Emanuel Syndrome

and the 11/22 Translocation

Emanuel Syndrome
3D Ultrasound - Prenatal Emanuel Syndrome

Prenatal

Prenatal Concerns and Findings – Emanuel Syndrome

Concerns during pregnancy

Carter et al (2009) reported that most women expecting children with ES (81%) did not report any pregnancy complications. However, there were instances of: 

  • Intrauterine growth restriction 
  • Decreased fetal movements
  • Oligohydramnios
  • Breech position
  • Vaginal bleeding
  • Prematurity 

While the majority of cases of Emanuel Syndrome are not diagnosed prenatally, there have been a handful of articles that have identified various prenatal findings including:

  • Increased nuchal fold thickness / excess neck skin
  • Head and facial malformations
  • Diaphragmatic hernias
  • Heart malformations
  • Brain malformations (especially Dandy-Walker Malformation seen in several reports)
  • Kidney malformations 
  • Intestinal and bowel anomalies

This is a 3D ultrasound image of our group member Mikah, that shows an ear tag.

References

Carter, M. T., Barrowman, N. J., St Pierre, S. A., Emanuel, B. S., & Boycott, K. M. (2010). Risk of breast cancer not increased in translocation 11;22 carriers: analysis of 80 pedigrees. American Journal of Medical Genetics. Part A, 152A(1), 212–214. https://doi.org/10.1002/ajmg.a.33166 

Hao, X., Wu, J., Fu, W., Zhang, R., Zhong, S., Deng, Y., Zhu, Y., Ye, Y., & Fang, Q. (2022). Prenatal Diagnosis of Fetuses with Emanuel Syndrome: Results of Ultrasound Examination and Invasive Genetic Testing. Prenatal Diagnosis, https://doi.org/10.1002/pd.6098 

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