Diagnosis of tuberous sclerosis complex focusing on prenatal period

Authors: H. Filipová;  M. Procházka;  R. Vrtěl
Authors‘ workplace: Ústav lékařské genetiky FN a LF UP Olomouc přednosta doc. MUDr. M. Procházka, Ph. D.
Published in: Ceska Gynekol 2016; 81(2): 147-154


Tuberous sclerosis is a disease with an autosomal dominant pattern of inheritance which is characterized by the development of benign tumours in many tissues and organs. Clinical signs are extremely variable, causing mutations in the gene TSC1 or TSC2. Complex formed by the products of the TSC genes regulates cell growth and proliferation by inhibition of mTORC1 signalling. Early diagnosis of TSC is very important to plan appropriate perinatal care. Using ultrasound and eventually MRI it is possible in the prenatal period to capture the following major features of tuberous sclerosis: cardiac rhabdomyo­ma, subependymal nodules, cortical tubers and renal angiomyolipomas. In connection with the syndrome of contiguous genes TSC2 / PKD1 can also be detect foetal renal cysts. Often these TSC-associated lesions represent an incidental finding during a routine ultrasound. In the period from the 20th week of pregnancy it is most often found cardiac rhabdomyoma/s as the first marker suggestive of tuberous sclerosis. In the case, where one of the parents is a carrier of already identified mutation in the TSC gene, it is possible to carry out targeted genetic testing of a sample of DNA isolated from cells of chorionic villi, amniocytes or tissue from aborted foe­tuses. Significantly more time consuming is to perform molecular analysis of the TSC genes in foetuses with suspected tuberous sclerosis without the occurrence of illness in the family. After finding a causal mutation and its confirmation, it is possible to offer genetic testing for other persons at risk, prenatal (eventually preimplantation) diagnosis for future pregnancies. It is also necessary to consider the possibility of gonadal mosaicism.

Review of the literature.

tuberous sclerosis complex, TSC1, TSC2, foetal rhabdomyoma, sequencing, mosaicism


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Paediatric gynaecology Gynaecology and obstetrics Reproduction medicine
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