Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up

Area of Science:

• Genetics
• Prenatal Diagnosis
• Pediatrics

Background:

• Tuberous Sclerosis (TSC) is an autosomal dominant disorder with high variability.
• Diagnosis can occur prenatally, particularly with cardiac tumors.
• Most cases arise de novo.

Purpose of the Study:

• To provide guidance on prenatal diagnosis and management of Tuberous Sclerosis.
• To discuss the challenges in determining prognosis for fetal TSC.
• To inform couples about the implications of TSC for pregnancy.

Main Methods:

• Review of clinical presentation and genetic factors in Tuberous Sclerosis.
• Discussion of fetal molecular testing for TSC1 and TSC2 genes.
• Analysis of prognostic indicators, including mutation type and location.

Main Results:

• Cardiac tumors in fetuses with TSC are often asymptomatic and rarely have a poor outcome.
• Neurological involvement, including intellectual deficiency and epilepsy, is a primary concern.
• Fetal brain MRI is not predictive of prognosis; de novo TSC2 mutations indicate a poorer outlook than inherited TSC1 mutations.

Conclusions:

• Prenatal diagnosis of TSC requires specialized care and genetic counseling.
• Prognosis is variable, with neurological complications being the most significant challenge.
• Postnatal cardiac and neurological monitoring is essential for newborns diagnosed with TSC.