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

Abstract

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. 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. 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. Fetal MRI was useful both for early diagnosis and prenatal management in this family with an agyria-pachyria complex CNS abnormality.