HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

MRI supported diagnosis and counselling in a family with a probably autosomal recessive form of pachygyria.

AbstractOBJECTIVES:
To describe the use of fetal MRI as an adjunct to high-resolution ultrasound in parental counselling in a family with a central nervous system (CNS) abnormality, resembling the agyria-pachyria complex, of probably autosomal recessive inheritance.
METHODS:
Description of the use of fetal MRI as an adjunct to high-resolution ultrasound in three consecutive pregnancies in a family with a CNS abnormality.
RESULTS:
Fetal MRI, by showing more detailed abnormalities of the CNS, proved to be very useful in parental counselling because of the definitive diagnosis available early in pregnancy. In the first two pregnancies, ultrasound examination revealed mild pyelectasis, megacystis and an enlarged posterior fossa with small cerebellum. MRI at 22-33 weeks confirmed these abnormalities, but also showed pachygyria. In the third pregnancy, MRI at 19 weeks showed no abnormalities, a finding of decisive importance for counselling.
CONCLUSION:
Fetal MRI was useful both for early diagnosis and prenatal management in this family with an agyria-pachyria complex CNS abnormality.
AuthorsSicco A Scherjon, Lishya Liauw, Sarina G Kant
JournalPrenatal diagnosis (Prenat Diagn) Vol. 25 Issue 12 Pg. 1097-101 (Dec 2005) ISSN: 0197-3851 [Print] England
PMID16240462 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright 2005 John Wiley & Sons, Ltd
Topics
  • Amniocentesis
  • Brain (abnormalities, embryology)
  • Cerebellum (abnormalities, embryology)
  • Cerebral Cortex (abnormalities, embryology)
  • Consanguinity
  • Female
  • Genetic Counseling
  • Humans
  • Infant, Newborn
  • Kidney (abnormalities, embryology)
  • Magnetic Resonance Imaging (methods)
  • Male
  • Pregnancy
  • Prenatal Diagnosis (methods)
  • Ultrasonography, Prenatal

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: