ReviewEuropean journal of human genetics : EJHG2024
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.
Review in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed.
- Prenatal diagnosis of cardiac rhabdomyoma: implications for predicting tuberous sclerosis complex and guiding perinatal management.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2026Article
- A two-step temporal data augmentation and supervised learning framework for predicting autism diagnosis at 36 months in patients with tuberous sclerosis complex.Computers in biology and medicine · 2026Article
- Tuberous sclerosis complex.Nature reviews. Disease primers · 2026Review
- Prenatal Detection and Neonatal Management of Tuberous Sclerosis Complex Compounded by Symptomatic Cardiac Arrhythmia.Case reports in pediatrics · 2026Article
- Prenatal ultrasound diagnosis of fetal cardiac rhabdomyoma and analysis of clinical outcomes.Quantitative imaging in medicine and surgery · 2026Article
- Prenatal magnetic resonance imaging findings of tuberous sclerosis complex in fetuses.Frontiers in oncology · 2026Article
- Difference in pre- and postnatal prevalence of congenital cardiac tumors in a large population-based cohort.Acta obstetricia et gynecologica Scandinavica · 2025Observational
- Prenatally Diagnosed Cardiac Tumors and Tuberous Sclerosis Complex: A Single-Center Experience.Children (Basel, Switzerland) · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
17 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tuberous sclerosis complex (TSC) is a rare multisystemic disorder caused by a pathogenic variant in the TSC1 or TSC2 gene. A great phenotypic variability characterises TSC. The condition predisposes to the formation of hamartomas in various tissues, neurologic and neurodevelopmental disorders such as epilepsy, psychiatric disorders, as well as intellectual disability in 50%. TSC may be responsible for cardiac rhabdomyomas (CRs), cortical tubers, or subependymal nodules during foetal life. Detecting multiple CRs is associated with a very high risk of TSC, but the CR could be single and isolated. Few data exist to estimate the risk of TSC in these cases. We report the largest series of prenatal genetic tests for TSC with a retrospective study of 240 foetuses presenting with suggestive antenatal signs. We also provide a review of the literature to specify the probability of clinical or genetic diagnosis of TSC in case of detection of single or multiple CRs. Indeed, an early diagnosis is crucial for the counselling of the couple and their families. In this series, a definite diagnosis was assessed in 50% (41/82) of foetuses who initially presented with a single CR and 80.3% (127/158) in cases of multiple CRs. The prevalence of parental germinal mosaicism was 2.6% (3/115).
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