Isolated and ventriculomegaly-associated cases of spina bifida in genetic counseling: Focus on fetal pathology

József Gábor Joó, Ákos Csaba, Zsanett Szigeti, J. Rigó

Research output: Contribution to journalArticle

Abstract

Cases of spina bifida alone and in association with ventriculomegaly represent important but different malformations according to clinical characteristics.In our study, we analyzed the data on pregancies terminated because of isolated cases (n=307) and ventriculomegaly-associated cases (n=372) of spina bifida.In spina bifida cases in association with hydrocephalus, positive obstetric history was found approximately 1.5 times more frequently than in the isolated ones. The incidence of positive genetic history was nearly two-fold in the latter cases. In isolated cases of spina bifida, associated malformations were more common than in cases of spina bifida and ventriculomegaly together. The most frequent associated malformations were those of the urogenital system (in cases of spina bifida: 11.1%; in cases of SB. +. V: 9.14%). The risk of recurrence of SB. +. V is significantly higher than that of isolated SB (8.9% vs. 2.1%).It can be concluded that positive genetic history is more common in cases of isolated spina bifida. Malformations out of the nervous system are more commonly observed in cases of isolated spina bifida. During the prenatal diagnostics of spina bifida, sonography must focus on malformations of the urogenital system.

Original languageEnglish
Pages (from-to)409-412
Number of pages4
JournalPathology Research and Practice
Volume209
Issue number7
DOIs
Publication statusPublished - 2013

Fingerprint

Spinal Dysraphism
Genetic Counseling
Pathology
Urogenital System
History
Nervous System Malformations
Hydrocephalus
Obstetrics
Ultrasonography
Recurrence
Incidence

Keywords

  • Associated malformations
  • Fetopathology
  • Risk of recurrence
  • Spina bifida
  • Spina bifida associated with ventriculomegaly

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Cell Biology

Cite this

Isolated and ventriculomegaly-associated cases of spina bifida in genetic counseling : Focus on fetal pathology. / Joó, József Gábor; Csaba, Ákos; Szigeti, Zsanett; Rigó, J.

In: Pathology Research and Practice, Vol. 209, No. 7, 2013, p. 409-412.

Research output: Contribution to journalArticle

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