Document Detail

Risk of recurrence of craniospinal anomalies.
MedLine Citation:
PMID:  9029387     Owner:  NLM     Status:  MEDLINE    
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.
C Papp; Z Adám; E Tóth-Pál; O Török; V Váradi; Z Papp
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Journal of maternal-fetal medicine     Volume:  6     ISSN:  1057-0802     ISO Abbreviation:  J Matern Fetal Med     Publication Date:    1997 Jan-Feb
Date Detail:
Created Date:  1997-06-19     Completed Date:  1997-06-19     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9211288     Medline TA:  J Matern Fetal Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  53-7     Citation Subset:  IM    
Department of Obstetrics and Gynecology, Semmelweis, University Medical School, Budapest, Hungary.
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MeSH Terms
Family Health
Fetal Diseases / diagnosis,  embryology,  epidemiology*
Genetic Counseling
Hydrocephalus / diagnosis,  embryology,  epidemiology*
Neural Tube Defects / diagnosis,  embryology,  epidemiology*
Pregnancy Outcome
Retrospective Studies
Risk Factors

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