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Course of pregnancy, family history and genetics in children with spina bifida
T A Angerpointner1, L Pockrandt, K Schroer
1Paediatric Surgical Clinic, Dr. von Haunersches Kinderspital, University of Munich, F.R.G.
Insights
Pregnancy complications, including maternal diseases and drug use, significantly increase the risk of spina bifida in newborns. Genetic factors and family history also play a crucial role in the development of this neural tube defect.
Area of Science:
- Medical Genetics
- Obstetrics
- Pediatric Neurology
Background:
- Spina bifida is a complex birth defect with multifactorial causes.
- Understanding the interplay of genetic and environmental factors is crucial for prevention and management.
Purpose of the Study:
- To investigate the role of pregnancy course, family history, and genetics in spina bifida etiology.
- To compare risk factors in children with spina bifida versus non-malformed controls.
Main Methods:
- Case-control study comparing 257 children with spina bifida to 537 non-malformed controls.
- Evaluation of pregnancy data, including maternal health and medication use.
- Assessment of family history for congenital malformations.
Main Results:
- Mothers of children with spina bifida reported significantly higher rates of pregnancy disturbances (60.6% vs. 30.1%), particularly maternal diseases and drug use.
- A higher incidence of malformed relatives (22.9% vs. 6.4%) was observed in families with spina bifida, indicating genetic predisposition.
- Birth seasonality for spina bifida cases differed from the general Bavarian birth distribution.
Conclusions:
- Pregnancy complications and genetic susceptibility are significant risk factors for spina bifida.
- Recurrence risks were estimated at 0.5% for affected parent and 4% for affected sibling.
- Findings suggest a broader genetic influence on malformation susceptibility.
Abstract:
Course of pregnancy, family history and genetics were evaluated in 257 children with spina bifida and compared with 537 non-malformed controls investigated under the same criteria. Birth data exhibited a significant seasonality with a maximum in January and a minimum in July which differed from the average distribution of birth data in Bavaria (maximum April, minimum October). The total number of pregnancy disturbances was 60.6% in mothers of spina bifida children, whereas this figure amounted to 30.1% in mothers of the control group. This high incidence of pregnancy disturbances in spina bifida was due to a high rate of diseases (6 times above controls) and drugs (6 times above controls) during early pregnancy. In 22.9% of children with spina bifida malformed relatives were found, whereas this was the case in only 6.4% of the children of the non-malformed control group. Not only malformations of the central nervous system but also malformations of other organ systems were found to be increased in relatives. This is a pointer not only to genetic influences as well-known aetiological factor, but also towards a generally higher susceptibility to malformation genesis in a relatively small group of persons. Risk of recurrence was 0.5% if one parent was affected and 4% if a sibling was affected.