Prenatal diagnosis of tuberous sclerosis. Use of magnetic resonance imaging and its implications for prognosis

Abstract

Tuberous sclerosis (TS) is an autosomal dominant disorder with a high rate of de novo mutation. The real difficulty is to ascertain the diagnosis and to give the neurological prognosis in each case. Prenatal diagnosis of TS is generally based on ultrasonographic signs of multiple cardiac tumours, i.e. rhabdomyomas. Recent progress in magnetic resonance imaging (MRI) enables the diagnosis in a large proportion of cases based on typical brain lesions. It may have a role in the prenatal management of TS, although MRI images seem to underestimate the anatomical findings. Two cases in which TS was diagnosed prenatally are presented with reference to the value of MRI in the prenatal management and comparison with anatomical findings.

Prenatal diagnosis of cerebral lesions and multiple intracardiac rhabdomyomas in a fetus with tuberous sclerosis.

“…Therefore, others have suggested performing magnetic resonance imaging to show cerebral lesions. 21 The increased amniotic fluid index in this case might have been a sign of fetal cardiac insufficiency; however, venous Doppler parameters were normal.…”

The Role of Fetal MRI in Prental Diagnosis: A Comparative Study with Antenatal Ultrasound

“…[5] It allows better fetal imaging in situations such as maternal obesity and oligohydramnios, where it may be difficult to obtain clear images by US due to technical limitations. [6] MRI has also proved to be useful for a wide variety of disorders, mainly those involving the central nervous system; especially in late gestation when, the ossification of the calvarium limits a good visualization of the encephalic structures. However, fetal MRI study may give limited diagnostic information in early gestational age due to the small size of the fetus and fetal movement.…”

Re: First‐trimester features of Fowler syndrome (hydrocephaly–hydranencephaly proliferative vasculopathy)

“…Besides, absence of cerebral involvement is not synonymous with a better prognosis 9,10 . Thus, although preliminary reports suggest that MRI is more sensitive than ultrasonography, false-negative diagnoses may still be made 11 . In our case, involvement of the brain was thought highly likely, but the pregnancy was continued and at 6 months' postnatal follow-up cerebral involvement was confirmed.…”