MRI supported diagnosis and counselling in a family with a probably autosomal recessive form of pachygyria.
Publication year
2005Source
Prenatal Diagnosis, 25, 12, (2005), pp. 1097-101ISSN
Publication type
Article / Letter to editor
Display more detailsDisplay less details
Organization
Radiology
Journal title
Prenatal Diagnosis
Volume
vol. 25
Issue
iss. 12
Page start
p. 1097
Page end
p. 101
Subject
UMCN 1.1: Functional ImagingAbstract
OBJECTIVES: 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.
This item appears in the following Collection(s)
- Academic publications [245103]
- Faculty of Medical Sciences [93207]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.