Prenatal screening characteristics in Emanuel syndrome: A case series and review of the literature

Asnat Walfisch, Kelsey E. Mills, Bernard N. Chodirker, Howard Berger

Research output: Contribution to journalReview articlepeer-review

10 Scopus citations


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.

Original languageEnglish
Pages (from-to)299-302
Number of pages4
JournalArchives of Gynecology and Obstetrics
Issue number2
StatePublished - 1 Aug 2012
Externally publishedYes


  • Biochemical screening
  • Chromosomal disorder
  • Pregnancy
  • Supernumerary derivative chromosome
  • Ultrasound features

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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