American Journal of Obstetrics & Gynecology
Volume 200, Issue 3 , Pages 321.e1-321.e6 , March 2009

Prenatal molecular diagnosis of tuberous sclerosis complex

  • Aubrey Milunsky, MBBCh, DSc, FRCP, FACMG, DCH

      Affiliations

    • Center for Human Genetics, Boston University School of Medicine, Boston, MA
    • Department of Pediatrics, Boston University School of Medicine, Boston, MA
    • Corresponding Author InformationReprints: Aubrey Milunsky, MBBCh, DSc, FRCP, FACMG, DCH, Professor of Human Genetics, Pediatrics, Pathology, and Obstetrics and Gynecology, and Director, Center for Human Genetics, Boston University School of Medicine, 715 Albany St., W-408, Boston, MA 02118
    • ,
  • Masamichi Ito, PhD

      Affiliations

    • Center for Human Genetics, Boston University School of Medicine, Boston, MA
    • Department of Pediatrics, Boston University School of Medicine, Boston, MA
    • ,
  • Thomas A. Maher, MS

      Affiliations

    • Center for Human Genetics, Boston University School of Medicine, Boston, MA
    • ,
  • Maureen Flynn, MS, CGC

      Affiliations

    • Center for Human Genetics, Boston University School of Medicine, Boston, MA
    • Department of Pediatrics, Boston University School of Medicine, Boston, MA
    • ,
  • Jeff M. Milunsky, MD

      Affiliations

    • Center for Human Genetics, Boston University School of Medicine, Boston, MA
    • Department of Pediatrics, Boston University School of Medicine, Boston, MA
    • Department of Genetics and Genomics, Boston University School of Medicine, Boston, MA

Received 25 April 2008 ,Revised 1 July 2008 ,Accepted 5 November 2008.

References 

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  2. Milunsky A, Littlefield JW, Kanfer JN, Kolodny E, Shih V, Atkins L. Prenatal genetic diagnosis. N Engl J Med. 1970;283(Part 2):1441
  3. Milunsky A, Littlefield JW, Kanfer JN, Kolodny E, Shih V, Atkins L. Prenatal genetic diagnosis. N Engl J Med. 1970;283(Part 3):1498
  4. van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997;277:805–808
  5. The European Chromosome 16 Tuberous Sclerosis Consortium (Identification and characterization of the tuberous sclerosis gene on chromosome 16). Cell. 1993;75:1305–1315
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  7. Yates RW. Tuberous sclerosis. Eur J Human Genet. 2006;14:1065–1073
  8. Johnson C, O'Callaghan FJ, Osborne JP, Martyn C, Harris T, Bolton PF. Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol Med. 2003;33:335–344
  9. Milunsky A, Shim SH, Ito M, et al. Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene. Prenat Diag. 2005;25:582–585
  10. Gomez MR, Sampson JR, Whittemore VH. Tuberous sclerosis complex. Oxford, UK: Oxford University Press; 1999;
  11. Webb DW, Osborne JP. Non-penetrance in tuberous sclerosis. J Med Genet. 1991;28:417–419
  12. Kwiatkowska J, Wigowska-Sowinska J, Napierala D, Slomski R, Kwiatkowska DJ. Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis. N Engl J Med. 1999;340:703–707
  13. Roach ES, Gomez MR, Northrup H. Tuberous Sclerosis Complex Consensus Conference: revised clinical diagnostic criteria. J. Child Neurol. 1998;13:624–628
  14. Roach ES, DiMario FJ, Kandt RS, Northrup H. Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. J Child Neurol. 1999;14:401–407
  15. Yates JRW, van Bakel I, Sepp T, et al. Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis. Hum Mol Gen. 1997;6:2265–2269
  16. Niida Y, Lawrence-Smith N, Banwell A, et al. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. Hum Mutat. 1999;14:412–422
  17. Bader RS, Chitayat D, Kelly E, et al. Fetal rhabdomyomas: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex. J Pediatr. 2003;143:620–624
  18. Jozwiak S, Kotulska K, Kasprzyk-Obara J, et al. Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. Pediatrics. 2006;118:1146–1151
  19. Muhler MR, Rake A, Schwabe M, et al. Value of fetal cerebral magnetic resonance imaging in sonographically proven cardiac rhabdomyoma. Pediatr Radiol. 2007;37:467–474
  20. Goh S, Weiss WA. Genotype-phenotype correlations in tuberous sclerosis: who and how to treat. Ann Neurol. 2006;60:505–507
  21. Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of tuberous sclerosis complex (TSC)-2, compared with TSC1, disease in multiple organs. Am J Hum Genet. 2001;68:64–80
  22. Au KS, Williams AT, Roach ES, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med. 2007;9:88–100
  23. Kozlowski P, Roberts P, Dabora S, et al. Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet. 2007;121:389–400
  24. Longa L, Saluto A, Brusco A, et al. TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene. Hum Gent. 2001;108:156–166
  25. Milunsky A, Milunsky J. Genetic counseling: preconception, prenatal, and perinatal. In:  Milunsky A editors. Genetic disorders and the fetus: diagnosis, prevention and treatment. 5th ed.. Baltimore, MD: Johns Hopkins University Press; 2004;p. 1–65

 Cite this article as: Milunsky A, Ito M, Maher TA, et al. Prenatal molecular diagnosis of tuberous sclerosis complex. Am J Obstet Gynecol 2009;200:321.e1-321.e6.

PII: S0002-9378(08)02204-7

doi: 10.1016/j.ajog.2008.11.004

American Journal of Obstetrics & Gynecology
Volume 200, Issue 3 , Pages 321.e1-321.e6 , March 2009

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