Risk of recurrence of craniospinal anomalies

C. Papp, Z. Adam, E. Tóth-Pál, O. Torok, V. Varadi, Z. Papp

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

The authors analyzed 1,655 situations from their Genetic Counseling Service over a 15 year period where the reason for counseling was craniospinal anomaly (neural tube defects and/or hydrocephalus) in the family. Excluding the obviously monogenically inherited cases, they investigated pregnancies undertaken after 1,285 isolated and 177 multiple forms of craniospinal abnormalities. The recurrence rate of craniospinal defects was found to be 3.66%, which is about ten times higher than the general population risk, supporting the theory of the multifactorial threshold model in the inheritance of these anomalies. The recurrence risks of neural tube defects and of hydrocephalus were 3.47% and 2.95%, respectively. The authors concluded that recurrence risk is mainly influenced by the pathoanatomic severity of the involved anomaly, the degree of relationship, and the number of affected relatives in the family. There is a positive correlation between the pathoanatomic severity of the anomaly in the proband and the offspring. At least in one-half of the cases the same type of anomaly was observed again in the offspring as in the proband. Attention is drawn to the fact that hydrocephalus (ventriculomegaly) is often manifested only in the second half of gestation. Therefore, performing ultrasound examination is strongly recommended not only at the 18th but at the 24th week of gestation, as well in pregnancies with a positive history of neural tube defects and/or hydrocephalus.

Original languageEnglish
Pages (from-to)53-57
Number of pages5
JournalJournal of Maternal-Fetal Medicine
Volume6
Issue number1
DOIs
Publication statusPublished - 1997

Fingerprint

Hydrocephalus
Neural Tube Defects
Recurrence
Pregnancy
Genetic Services
Genetic Counseling
Counseling
Population

Keywords

  • craniospinal anomalies
  • neural tube defects
  • recurrence risk

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Pediatrics, Perinatology, and Child Health

Cite this

Risk of recurrence of craniospinal anomalies. / Papp, C.; Adam, Z.; Tóth-Pál, E.; Torok, O.; Varadi, V.; Papp, Z.

In: Journal of Maternal-Fetal Medicine, Vol. 6, No. 1, 1997, p. 53-57.

Research output: Contribution to journalArticle

Papp, C. ; Adam, Z. ; Tóth-Pál, E. ; Torok, O. ; Varadi, V. ; Papp, Z. / Risk of recurrence of craniospinal anomalies. In: Journal of Maternal-Fetal Medicine. 1997 ; Vol. 6, No. 1. pp. 53-57.
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