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Schoner K, Axt-Fliedner R, Bald R, et al. Fetal Pathology of Neural Tube Defects - An Overview of 68 Cases. Geburtshilfe Frauenheilkd. 2017;77(5):495-507doi: 10.1055/s-0043-103459.
Schoner, K., Axt-Fliedner, R., Bald, R., Fritz, B., Kohlhase, J., Kohl, T., & Rehder, H. (2017). Fetal Pathology of Neural Tube Defects - An Overview of 68 Cases. Geburtshilfe und Frauenheilkunde, 77(5), 495-507. https://doi.org/10.1055/s-0043-103459
Schoner, Katharina, et al. "Fetal Pathology of Neural Tube Defects - An Overview of 68 Cases." Geburtshilfe und Frauenheilkunde vol. 77,5 (2017): 495-507. doi: https://doi.org/10.1055/s-0043-103459
Schoner K, Axt-Fliedner R, Bald R, Fritz B, Kohlhase J, Kohl T, Rehder H. Fetal Pathology of Neural Tube Defects - An Overview of 68 Cases. Geburtshilfe Frauenheilkd. 2017 May;77(5):495-507. doi: 10.1055/s-0043-103459. Epub 2017 May 24. PMID: 28579621; PMCID: PMC5444532.
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Geburtshilfe Frauenheilkd. 2017 May;77(5):495-507. doi: 10.1055/s-0043-103459. Epub 2017 May 24.

Fetal Pathology of Neural Tube Defects - An Overview of 68 Cases.

Geburtshilfe und Frauenheilkunde

Katharina Schoner, Roland Axt-Fliedner, Rainer Bald, Barbara Fritz, Juergen Kohlhase, Thomas Kohl, Helga Rehder

Affiliations

  1. Institute of Pathology, WG Fetal Pathology, University of Gießen and Marburg, Philipps University of Marburg, Marburg, Germany.
  2. Department of Prenatal Medicine, University Hospital of Gießen and Marburg, Gießen, Germany.
  3. Department of Gynecology and Obstetrics, Klinikum Leverkusen, Leverkusen, Germany.
  4. Center of Human Genetics, University of Gießen and Marburg, Philipps University of Marburg, Marburg, Germany.
  5. Praxis for Human Genetics - Center of Preimplantation Genetic Diagnosis, Freiburg, Germany.
  6. German Center for Fetal Surgery & minimal-invasive Therapy, University Hospital of Gießen and Marburg, Gießen, Germany.
  7. Institute of Medical Genetics, Medical University Vienna, Vienna, Austria.

PMID: 28579621 PMCID: PMC5444532 DOI: 10.1055/s-0043-103459

Abstract

INTRODUCTION: The prevalence of neural tube defects worldwide is 1 - 2 per 1000 neonates. Neural tube defects result from a disturbance of neurulation in the 3rd or 4th week of development and thus represent the earliest manifestation of organ malformation. Neural tube defects (NTD) are classified into cranial dysraphism leading to anencephaly or meningoencephalocele and spinal dysraphism with or without meningomyelocele. In isolated form they have multifactorial causes, and the empirical risk of recurrence in Central Europe is 2%. As associated malformations they tend to occur sporadically, and in monogenic syndromes they follow Mendelian inheritance patterns with a high risk of recurrence.

PATIENTS: Autopsies were performed on 68 fetuses following a prenatal diagnosis of NTD and induced abortion.

RESULTS: The incidence of NTDs in our autopsied fetuses was 8% and 11% in fetuses with malformations. The percentage of fetuses with anencephaly, encephalocele or spina bifida was 24, 18, and 60%*, respectively. Analysis of the sex distribution showed a female preponderance in cranial dysraphisms but the sex distribution of spina bifida cases was equal. The extent and localization of NTDs varied, with lumbosacral cases clearly predominating. The proportion of isolated, associated and syndromic neural tube defects was 56, 23.5 and 20.6% respectively. In the majority of syndromes, the neural tube defect represented a not previously observed syndromic feature.

CONCLUSION: The high proportion of NTDs with monogenic background underlines the importance of a syndrome oriented fetal pathology. At the very least it requires a thourough photographic and radiographic documentation of the fetal phenotype to enable the genetic counsellor to identify a syndromic disorder. This is necessary to determine the risk of recurrence, arrange confirming mutation analyses and offer targeted prenatal diagnosis in subsequent pregnancies.

Keywords: Chiari II malformation; encephalocele; fetal pathology; neural tube defects; spina bifida

References

  1. Fetal Pediatr Pathol. 2016;35(3):192-8 - PubMed
  2. Lancet. 1986 Oct 11;2(8511):871-2 - PubMed
  3. Ultrasound Obstet Gynecol. 1997 Dec;10(6):410-5 - PubMed
  4. World J Diabetes. 2015 Apr 15;6(3):481-8 - PubMed
  5. Am J Med Genet. 1989 Mar;32(3):356-8 - PubMed
  6. Prenat Diagn. 2013 Jan;33(1):75-80 - PubMed
  7. J Obstet Gynaecol Can. 2014 Oct;36(10):927-939 - PubMed
  8. APMIS. 2006 Apr;114(4):239-46 - PubMed
  9. Childs Nerv Syst. 2016 Jul;32(7):1281-7 - PubMed
  10. Teratology. 1989 Apr;39(4):325-31 - PubMed
  11. Humangenetik. 1970;11(1):1-8 - PubMed
  12. N Engl J Med. 2007 Apr 5;356(14):1432-7 - PubMed
  13. Prenat Diagn. 1981 Jul;1(3):161-71 - PubMed
  14. Epilepsia. 2003;44 Suppl 3:4-13 - PubMed
  15. Childs Nerv Syst. 2003 Aug;19(7-8):540-50 - PubMed
  16. Am J Med Genet. 1998 May 26;77(4):317-21 - PubMed
  17. Ultrasound Obstet Gynecol. 2016 Feb;47(2):158-61 - PubMed
  18. Teratology. 1991 Nov;44(5):547-59 - PubMed
  19. Teratology. 2001 Nov;64(5):237-51 - PubMed
  20. Am J Med Genet. 1995 Sep 25;58(4):332-6 - PubMed
  21. Am J Obstet Gynecol. 2016 Dec;215(6):778.e1-778.e9 - PubMed
  22. Acta Obstet Gynecol Scand. 2010 Oct;89(10):1276-83 - PubMed
  23. J Obstet Gynaecol Can. 2015 Jun;37(6):534-52 - PubMed
  24. J Pathol. 2010 Jan;220(2):217-30 - PubMed
  25. Lancet Neurol. 2013 Aug;12(8):799-810 - PubMed
  26. Birth Defects Res A Clin Mol Teratol. 2012 Mar;94(3):134-40 - PubMed
  27. Teratology. 1968 Aug;1(3):281-90 - PubMed
  28. Ultrasound Obstet Gynecol. 2014 Nov;44(5):515-24 - PubMed
  29. Hum Genet. 1985;69(1):47-61 - PubMed
  30. Semin Pediatr Neurol. 2009 Sep;16(3):101-10 - PubMed
  31. Mol Cell Probes. 2015 Oct;29(5):299-307 - PubMed
  32. Wiley Interdiscip Rev Dev Biol. 2013 Mar-Apr;2(2):213-27 - PubMed
  33. BMJ. 2015 Nov 24;351:h5949 - PubMed
  34. Ultrasound Obstet Gynecol. 2004 Apr;23(4):352-6 - PubMed
  35. J Med Genet. 1976 Feb;13(1):9-16 - PubMed

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