A Multidisciplinary Approach in Prenatal Diagnosis of TSC With Cardiac Rhabdomyoma as the Initial Symptom.
cardiac rhabdomyoma
fetal tumor
prenatal diagnoses
targeted exome capture sequencing
tuberous sclerosis (TSC)
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2021
2021
Historique:
received:
12
02
2021
accepted:
21
06
2021
entrez:
13
9
2021
pubmed:
14
9
2021
medline:
14
9
2021
Statut:
epublish
Résumé
The long-term prognosis of a fetus with cardiac rhabdomyoma (CR) depends on the correlation with tuberous sclerosis complex (TSC). In recent years, the numerous variations of uncertain significance (VUS) of TSC genes produced by high-throughput sequencing have made counseling challenging, studies until now have tended to side-step the tricky topics. Here, we integrated detailed parental phenotype, echocardiography, neuro MRI, and genetic information to conduct a comprehensive evaluation of 61 CR fetuses. As a result, multiple CRs and cerebral lesions appeared in 90 and 80%, respectively of fetuses with pathogenic (P)/likely pathogenic (LP) TSC1/TSC2 variations. Overall, 85.7% of the live-born infants with P/LP presented with TSC-associated signs. While, 85.7% of VUS without nervous findings had good prognoses. Genetic evidence and cerebral MRI findings are the most sensitive index to assess long-term prognosis, which complement and confirm each other for a TSC diagnosis. In total, 68.9% of fetuses with CR could benefit from this multidisciplinary approach, which turned out to be potentially clinically actionable with precise clinical/genetic diagnosis or had a foreseeable outcome. Our practice provides a practical and feasible solution for perinatal management and prognostic guidance for fetuses with CR.
Identifiants
pubmed: 34513752
doi: 10.3389/fped.2021.628238
pmc: PMC8429840
doi:
Types de publication
Journal Article
Langues
eng
Pagination
628238Informations de copyright
Copyright © 2021 Qi, Ding, Huang, Zeng, Yu, Liu, Zhang and Yin.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
J Perinat Med. 2018 Feb 23;46(2):115-121
pubmed: 28343178
Am J Obstet Gynecol. 2009 Mar;200(3):321.e1-6
pubmed: 19254590
Pediatr Neonatol. 2017 Jun;58(3):205-210
pubmed: 28043830
Genet Med. 2019 Nov;21(11):2639-2643
pubmed: 31160751
PLoS Genet. 2015 Nov 05;11(11):e1005637
pubmed: 26540169
Nat Rev Dis Primers. 2016 May 26;2:16035
pubmed: 27226234
Genet Med. 2020 Sep;22(9):1489-1497
pubmed: 32461669
Nat Commun. 2017 Jun 15;8:15816
pubmed: 28643795
Case Rep Womens Health. 2018 Jun 20;19:e00070
pubmed: 30094198
Ultrasound Obstet Gynecol. 2004 Feb;23(2):165-71
pubmed: 14770398
Handb Clin Neurol. 2018;148:813-822
pubmed: 29478616
Pediatr Radiol. 2007 May;37(5):467-74
pubmed: 17357805
Pediatr Hematol Oncol. 2013 Mar;30(2):71-9
pubmed: 23151153
Pediatr Neurol. 2013 Oct;49(4):243-54
pubmed: 24053982
Eur J Paediatr Neurol. 2018 Nov;22(6):1027-1034
pubmed: 30279084
Pediatrics. 2006 Oct;118(4):e1146-51
pubmed: 16940165
Pediatr Cardiol. 2004 May-Jun;25(3):252-73
pubmed: 15360117
Acta Neuropathol. 2020 Apr;139(4):613-624
pubmed: 30976976
Orphanet J Rare Dis. 2018 Jan 29;13(1):25
pubmed: 29378663
Lancet. 2000 May 13;355(9216):1698
pubmed: 10905251
Hum Mutat. 2011 Apr;32(4):424-35
pubmed: 21309039
N Engl J Med. 2018 May 10;378(19):1844-1845
pubmed: 29742370
Genet Med. 2019 Nov;21(11):2594-2604
pubmed: 31114024
Ultrasound Obstet Gynecol. 2008 Mar;31(3):289-95
pubmed: 18307215
Ultrasound Obstet Gynecol. 2009 Aug;34(2):155-9
pubmed: 19606448
J Perinat Med. 2019 Dec 18;48(1):74-81
pubmed: 31811808
Life Sci I. 1970 Oct 15;9(20):1153-63
pubmed: 5481739
Ultrasound Obstet Gynecol. 2019 Jul;54(1):103-109
pubmed: 29877000
J Matern Fetal Neonatal Med. 2019 Aug;32(15):2463-2468
pubmed: 29415597