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.
Catamnestic investigations on the course of pregnancy, family history and genetics were carried out in 141 children suffering from congenital hydrocephalus. The results were compared with those obtained from a group of non-malformed controls investigated by the same criteria. There was a considerably higher incidence of pregnancy disturbances (i.e. diseases, drugs, haemorrhage etc.) in mothers who later gave birth to a child with congenital hydrocephalus, than mothers of the control group (congenital hydrocephalus: 61.3% vs. controls: 30.1%). This high incidence of pregnancy disturbances could be particularly referred to a sevenfold increased rate of diseases and a fourfold increased rate of drug intake during the first trimester. There was also a higher rate of malformed relatives in children with congenital hydrocephalus (16.7%) than in controls (6.4%); not only were malformations of the central nervous system found to be increased but also malformations of other organ systems in relatives. This is interpreted as a hint not only at genetic influences but also at a generally higher incidence of malformations in a relatively small group of persons. Calculated figures of recurrence risk were in accordance with empirical data used in genetic counselling.
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