Genetic considerations in the prenatal diagnosis of overgrowth syndromes

Prenat Diagn. 2009 Oct;29(10):923-9. doi: 10.1002/pd.2319.

Abstract

Large (>90%) for gestational age (LGA) fetuses are usually identified incidentally. Detection of the LGA fetus should first prompt the provider to rule out incorrect dates and maternal diabetes. Once this is done, consideration should be given to certain overgrowth syndromes, especially if anomalies are present. The overgrowth syndromes have significant clinical and molecular overlap, and are associated with developmental delay, tumors, and other anomalies. Although genetic causes of overgrowth are considered postnatally, they are infrequently diagnosed prenatally. Here, we review prenatal sonographic findings in fetal overgrowth syndromes, including Pallister-Killian, Beckwith-Wiedemann, Sotos, Perlman, and Simpson-Golabi-Behmel. We also discuss prenatal diagnosis options and recurrence risks.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Algorithms
  • Beckwith-Wiedemann Syndrome / diagnosis
  • Beckwith-Wiedemann Syndrome / genetics
  • Chromosome Aberrations / embryology
  • Diagnosis, Differential
  • Genetic Testing / methods
  • Growth Disorders / diagnosis*
  • Growth Disorders / embryology
  • Growth Disorders / genetics*
  • Humans
  • Prenatal Diagnosis / methods*
  • Syndrome