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Geburtshilfe Frauenheilkd 2017; 77(05): 495-507
DOI: 10.1055/s-0043-103459
GebFra Science
Original Article/Originalarbeit
Georg Thieme Verlag KG Stuttgart · New York

Fetal Pathology of Neural Tube Defects – An Overview of 68 Cases

Article in several languages: English | deutsch
Katharina Schoner
1   Institute of Pathology, WG Fetal Pathology, University of Gießen and Marburg, Philipps University of Marburg, Marburg, Germany
,
Roland Axt-Fliedner
2   Department of Prenatal Medicine, University Hospital of Gießen and Marburg, Gießen, Germany
,
Rainer Bald
3   Department of Gynecology and Obstetrics, Klinikum Leverkusen, Leverkusen, Germany
,
Barbara Fritz
4   Center of Human Genetics, University of Gießen and Marburg, Philipps University of Marburg, Marburg, Germany
,
Juergen Kohlhase
5   Praxis for Human Genetics – Center of Preimplantation Genetic Diagnosis, Freiburg, Germany
,
Thomas Kohl
6   German Center for Fetal Surgery & minimal-invasive Therapy, University Hospital of Gießen and Marburg, Gießen, Germany
,
Helga Rehder
1   Institute of Pathology, WG Fetal Pathology, University of Gießen and Marburg, Philipps University of Marburg, Marburg, Germany
7   Institute of Medical Genetics, Medical University Vienna, Vienna, Austria
› Author Affiliations
Further Information

Publication History

received 03 December 2016
revised 07 February 2017

accepted 10 February 2017

Publication Date:
24 May 2017 (online)

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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.

Key words

neural tube defects - spina bifida - encephalocele - Chiari II malformation - fetal pathology

Supporting Information

Supporting Information

 

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