Associated anomalies with neural tube defects in fetal autopsies

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TORU H. S., SANHAL C. Y., UZUN O. C., OCAK G. A., Mendilcioglu İ. İ., Karaveli F. Ş.

JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE, vol.29, no.5, pp.798-802, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 5
  • Publication Date: 2016
  • Doi Number: 10.3109/14767058.2015.1019456
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.798-802
  • Keywords: Anencephaly, chranioschisis, genetic, malformation, spina bifida, MECKEL-GRUBER-SYNDROME, SPINA-BIFIDA, SCHISIS-ASSOCIATION
  • Akdeniz University Affiliated: Yes


Neural tube defects (NTD), the consequences of aberrant neural tube closure during embryogenesis, have been mostly investigated in terms of their high prevalence, rate of mortalities and serious morbidities. A proper prenatal outcome counseling of couples coming across a fetal anomaly necessitates the detection and categorization of the primer abnormality, all the co-existing malformations. The aim of this work is to study the incidence and relevance of associated malformations in order to offer a complete pathology report with a true diagnosis. In this study, among 542 fetal autopsy 62 (%11.4) cases with NTD was recorded by the Akdeniz University Pathology Department between January 2006 and June 2012. Twenty (32.4%) NTD cases were associated with anomaly. Twelve cases of associated groups consisted of a congenital syndrome/association, spondylothoracic dysplasia, amniotic band syndrome, Meckel-Gruber syndrome, schisis association. The frequency of associated NTD was 32%, this result was higher than previous reports. NTDs have a significant genetic component to their etiology that interacts with environmental risk factors, which might pose Turkey to be a country with high prevalence of NTD. We want to emphasize that intensive screening, documentation of co-existent abnormalities of NTD, should be conducted in order to exhibit certain diagnosis, to perform proper prenatal genetic counseling of parents for on-going/future pregnancies.