title: Prenatal screening characteristics in Emanuel syndrome: a case series and review of the literature.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Post Graduate Medical Education, Obstetrics and Gynecology, University of Toronto, Toronto, Canada.
authors.forename: Asnat
authors.initials: A
authors.lastname: Walfisch
authors.forename: Kelsey E
authors.initials: KE
authors.lastname: Mills
authors.forename: Bernard N
authors.initials: BN
authors.lastname: Chodirker
authors.forename: Howard
authors.initials: H
authors.lastname: Berger
mesh_terms: D000328:Adult; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000000981:diagnostic imaging; D002972:Cleft Palate / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000000981:diagnostic imaging; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis* / Q000000981:diagnostic imaging; D048208:Nuchal Translucency Measurement; D011266:Pregnancy-Associated Plasma Protein-A / Q000032:analysis; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal; D055815:Young Adult
chemical_list: D011266:Pregnancy-Associated Plasma Protein-A