Maternal and Fetal Tuberous Sclerosis: Do We Know Enough as an Obstetrician?

Content Provider	Europe PMC
Author	Sharma, Nalini Sharma, Shriram Thiek, Jion Lalnunnem Ahanthem, Santa Singh Kalita, Arnab Lynser, Donboklang
Copyright Year	2017
Abstract	Background:Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is a rare genetic condition that mainly causes hamartomas to develop in different parts of the body. TSC, an autosomal dominant trait with variable penetrance, can adversely affect maternal and fetal outcome.Case Presentation:In this paper, a case of maternal and fetal tuberous sclerosis having fetal cardiac rhabdomyoma detected in utero at 26 weeks was reported who subsequently had fetal demise at 31 weeks.Conclusion:Tuberous sclerosis is a rare genetic condition that mainly causes development of hamartomas. In tuberous sclerosis, a cardiac rhabdomyoma is the only sign that can be detected prenatally. In maternal tuberous sclerosis, fetal ECHO is advisable after 24 weeks. A pregnancy complicated by maternal or fetal tuberous sclerosis deserves careful observation and the fetus should undergo prenatal fetal Doppler echocardiography and if possible magnetic resonance imaging for evaluation of other fetal structures including brain and renal parenchyma, so that parents can be counseled regarding its future prognostic implications. Tuberous sclerosis can lead to poor fetal outcome including intrauterine fetal death; hence regular antenatal follow up is required. Genetic counseling is recommended for couples who have a family history of tuberous sclerosis and who want to have children. Prenatal diagnosis is available for families with a known gene mutation or history of this condition.
Related Links	https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC5565905&blobtype=pdf
ISSN	22285482
Journal	Journal of Reproduction & Infertility [J Reprod Infertil]
Volume Number	18
PubMed Central reference number	PMC5565905
Issue Number	2
PubMed reference number	28868251
e-ISSN	2251676X
Language	English
Publisher	Avicenna Research Institute
Publisher Date	2017-04-01
Access Restriction	Open
Rights License	This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Copyright© 2017, Avicenna Research Institute.
Subject Keyword	Pregnancy Tuberous sclerosis complex Tuberous sclerosis
Content Type	Text
Resource Type	Article
Subject	Reproductive Medicine