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First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing.

Abstract
We describe a first-trimester ultrasound examination in which the finding of fetal encephalocele and the cystic appearance of the kidneys raised suspicion of Meckel-Gruber syndrome (MKS). On the basis of sonographic findings, the patient elected termination of pregnancy, and post-termination studies using next-generation sequencing of a gene panel revealed two mutations (one previously described and the other novel) in the gene CC2D2A. Mutations in CC2D2A are known to cause MKS and Joubert syndrome, thus providing molecular confirmation of the clinical suspicion of MKS and opening the possibility for future prenatal diagnosis. This case highlights the ability to detect important anomalies in the first trimester using ultrasound, even in low-risk situations. It also demonstrates the growing role of new sequencing technologies in fetal testing.
AuthorsD Jones, F Fiozzo, B Waters, D McKnight, S Brown
JournalUltrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (Ultrasound Obstet Gynecol) Vol. 44 Issue 6 Pg. 719-21 (Dec 2014) ISSN: 1469-0705 [Electronic] England
PMID24706459 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.
Chemical References
  • CC2D2A protein, human
  • Cytoskeletal Proteins
  • Genetic Markers
  • Proteins
Topics
  • Adult
  • Ciliary Motility Disorders (diagnostic imaging, genetics)
  • Cytoskeletal Proteins
  • Encephalocele (diagnostic imaging, genetics)
  • Female
  • Genetic Markers
  • Humans
  • Mutation
  • Polycystic Kidney Diseases (diagnostic imaging, genetics)
  • Pregnancy
  • Pregnancy Trimester, First
  • Proteins (genetics)
  • Retinitis Pigmentosa
  • Sequence Analysis, DNA
  • Ultrasonography, Prenatal

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