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

Abstract

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.

• Authors: Asnat Walfisch, Kelsey E Mills, Bernard N Chodirker, Howard Berger
• Journal: Archives of gynecology and obstetrics (Arch Gynecol Obstet) Vol. 286 Issue 2 Pg. 299-302 (Aug 2012) ISSN: 1432-0711 [Electronic] Germany
• PMID: 22434056 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Pregnancy-Associated Plasma Protein-A

Topics

• Adult
• Chromosome Disorders (diagnosis, diagnostic imaging)
• Cleft Palate (diagnosis, diagnostic imaging)
• Female
• Heart Defects, Congenital (diagnosis, diagnostic imaging)
• Humans
• Intellectual Disability (diagnosis, diagnostic imaging)
• Male
• Muscle Hypotonia (diagnosis, diagnostic imaging)
• Nuchal Translucency Measurement
• Pregnancy-Associated Plasma Protein-A (analysis)
• Prenatal Diagnosis
• Ultrasonography, Prenatal
• Young Adult