Early Diagnosis of Tuberous Sclerosis Complex: Prenatal Diagnosis
M Bekiesinska-Figatowska1, P Sobieraj2, M Pasieczna3
1From the Department of Diagnostic Imaging (M.B.-F., P.S.), Institute of Mother and Child, Warsaw, Poland monika.bekiesinska@imid.med.pl.
Insights
Prenatal ultrasound and MR imaging can detect tuberous sclerosis complex (TSC) early. This allows for timely intervention, improving outcomes for affected infants diagnosed with TSC prenatally.
Area of Science:
- Medical imaging
- Prenatal diagnostics
- Neurology
Background:
- Early detection of tuberous sclerosis complex (TSC) is crucial for timely antiepileptic treatment.
- Prenatal diagnosis of TSC is achievable through fetal ultrasound and MR imaging.
- Cardiac rhabdomyomas on ultrasound can indicate TSC.
Purpose of the Study:
- To evaluate the utility of prenatal MR imaging in diagnosing tuberous sclerosis complex (TSC) in fetuses with cardiac tumors.
- To identify major cerebral manifestations of TSC during fetal development.
Main Methods:
- Retrospective review of 50 fetuses with ultrasound-detected cardiac tumors.
- Fetal MR imaging performed between 24-37 gestational weeks.
- Analysis of major TSC criteria including cardiac rhabdomyomas, subependymal nodules, and cortical tubers.
Main Results:
- In 78% of cases, MR imaging confirmed prenatal diagnosis of TSC with additional major criteria.
- Subependymal nodules were present in all confirmed TSC cases (100%).
- Cortical tubers (61.5%) and subependymal giant cell astrocytomas (15.4%) were also identified.
Conclusions:
- Prenatal diagnosis of TSC is feasible with fetal ultrasound and MR imaging.
- Early diagnosis enables perinatal care planning for infants with TSC.
- Collaboration between gynecologists, pediatric cardiologists, and radiologists is key for early TSC detection.
Background And Purpose:
Strong emphasis has been placed recently on early (4 postnatal months) detection of tuberous sclerosis complex and the introduction of antiepileptic treatment before seizure onset. This objective can be achieved prenatally: Cardiac rhabdomyomas and the major diagnostic tuberous sclerosis complex sign are detected during fetal ultrasound, and prenatal MR imaging allows detection of cerebral major manifestations: cortical tubers, subependymal nodules, and subependymal giant cell astrocytomas.
Materials And Methods:
We retrospectively reviewed 50 fetuses with ultrasound-detected cardiac tumors at 19-36 gestational weeks (median, 31 weeks). MR imaging with the use of 1.5T scanners was performed at 24-37 gestational weeks (median, 34 weeks).
Results:
In 11 fetuses (22%), cardiac tumors remained the only criterion. In remaining 39 fetuses (78%), MR imaging revealed a prenatal diagnosis of tuberous sclerosis complex, having shown an additional 1-3 major criteria: subependymal nodules in all cases (39/39 = 100.0%), subependymal giant cell astrocytomas in 6 (6/39 = 15.4%), and cortical tubers in 24 (24/39 = 61.5%). Radial migration lines and cerebellar tuber, not published so far, were shown in 1 case each.
Conclusions:
A schedule of proper care of children with tuberous sclerosis complex can be established during the perinatal period due to education of women to report for mandatory ultrasound examinations during pregnancy, the good quality of ultrasound, and referral to MR imaging if a cardiac tumor is depicted on ultrasound. Gynecologists and pediatric cardiologists performing fetal ultrasound and radiologists performing prenatal MR imaging are a key to early diagnosis of tuberous sclerosis complex in many cases.
