Risk of recurrence in major central nervous system malformations between 1976 and 2005

József Gábor Joó, Artúr Beke, Zoltán Papp, Ákos Csaba, Attila Rab, Csaba Papp

Research output: Contribution to journalArticle

10 Citations (Scopus)


Objective: The goal of the current publication is to review isolated central nervous system malformations (CSMs) using a database in excess of 75 000 cases, with special regard to the risk of recurrence of these malformations alone or in combination. Methods: In the period between 1 January 1976 and 31 December 2005, among the 75320 documented cases, consultations were requested due to earlier isolated CSMs in the patients' histories in 3030 cases (4.2%). Processing the data we only considered disorders of genetic origin, and that was why we excluded the cases due to intrauterine infection. Monogenically inherited malformations were also excluded from the analysis. The diagnosis of the malformations was based on the prenatal diagnosis of ultrasonography as well as the findings of the foetopathological examination. Results: In 65% of the cases, the couples sought counselling because of malformation in a previous pregnancy. In these cases, the risk of recurrence was thought to be 5.2%, while in the case of two affected children this figure stood at 21.9%. Analysing the values for the risk of recurrence in 5-year periods, neural tube defects (NTDs) (particularly anencephaly and spina bifida) showed a detectable decrease, which could be attributed to a growing use of folic acid supplementation around the time of conception and during pregnancy. Conclusion: There is a clear decrease of risk of recurrence of NTDs, while in the case of the other CSMs in this study, there is no noteworthy chronological change in their risk of recurrence.

Original languageEnglish
Pages (from-to)1028-1032
Number of pages5
JournalPrenatal Diagnosis
Issue number11
Publication statusPublished - Nov 1 2007


  • Central nervous system malformation
  • Folic acid supplementation
  • Genetic counselling
  • Neural tube defect
  • Patient's history
  • Risk of recurrence

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Genetics(clinical)

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