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

• Published in: Prenatal diagnosis Vol. 27; no. 11; pp. 1028 - 1032
• Main Authors: Joó, József Gábor, Beke, Artúr, Papp, Zoltán, Csaba, Ákos, Rab, Attila, Papp, Csaba
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.11.2007; Wiley
• Subjects: Abnormalities, Multiple - etiology; Biological and medical sciences; Central Nervous System - abnormalities; Central Nervous System Diseases - congenital; Central Nervous System Diseases - etiology; central nervous system malformation; Databases, Factual; Delivery. Postpartum. Lactation; Female; folic acid supplementation; Fundamental and applied biological sciences. Psychology; Genetic Counseling; genetic counselling; Genetics of eukaryotes. Biological and molecular evolution; Gynecology. Andrology. Obstetrics; Humans; Male; Medical sciences; Molecular and cellular biology; neural tube defect; patient's history; Pregnancy; Recurrence; Reproductive History; Retrospective Studies; Risk Factors; risk of recurrence; Human; genetic counselling; Nervous system diseases; Relapse; Gynecology; Diseases of the osteoarticular system; Vitamin; Central nervous system; Neonatology; Risk; folic acid supplementation; Spine disease; central nervous system malformation; Epidemiology; Folic acid; Neural tube defect; risk of recurrence; patient's history; Genetic counseling; Malformation; Risk factor; Genetics; Supplementation
• DOI: 10.1002/pd.1827
• ISSN: 0197-3851

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 75 320 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. Copyright © 2007 John Wiley & Sons, Ltd.