Towards the prevention of fetal malformation / edited by J.B. Scrimgeour.

Date:
[1978], ©1978
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Towards the prevention of fetal malformation / edited by J.B. Scrimgeour. Source: Wellcome Collection.

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    H.G ALJ A ARD recurrence risk. These doctors argue that 'one should not worry people with risk figures if one cannot provide help'. Also, there are still too many doctors who do not even know about the possibilities of prenatal monitoring for spina bifida aperta and anencephaly. According to most experts in genetic counsel¬ ling it is the task of every doctor, including the obstetrician, to warn all those couples known to have an increased genetic risk. It should be the counsellee's own decision what they finally do with this information. A number of follow- up studies have shown that most couples adapted their reproductive behaviour to the information they had obtained during genetic counselling (Carter et al. 1971 ; Emery, Watt and Clack 1973). It has also been demonstrated that the information was better understood if the couple concerned had a better train¬ ing in human biology (Leonard, Chase and Childs 1972). More attention to genetics in health care and in general education is required (Childs 1974). Although the possibilities of preventing multifactorial congenital malfor¬ mations are limited, there are a few developments that might lead to a broaden¬ ing of the scope of prevention. The techniques of ultrasonography are improv¬ ing each year, and it is to be expected that a number of external malformations and even some abnormalities of internal organs will be detectable at early pregnancy. The technique of fetoscopy as a means of visual inspection of the fetus has so far been discouraging (Scrimgeour 1973) but there seems to be improvement in this area as well (Kaback and Valenti 1976; Rauskolb, per¬ sonal communication). Finally, there is a very exciting development in the area of basic studies of early embryonic development (Waelsch and Ericksson 1970, Bennett 1975, Ericksson 1975) and the differentiation of teratocarci- noma cells (Arzt, Bennet and Jacob 1974; Martin and Evans 1975; Illmensee and Mintz 1976). It is to be hoped that this basic research will finally lead to a better insight into the aetiology and pathogenesis of congenital malformations. However, in addition to all these new developments, we should pay at¬ tention to the fact that only very limited use is made of the present possibili¬ ties of prevention. As a rough estimate only twenty per cent of the patients with chromosomal aberrations and genetic metabolic diseases are correctly diagnosed. Only ten per cent of the people who should obtain genetic counsel¬ ling are referred for this purpose. Only seven to ten per cent of the pregnant women who should undergo amniocentesis are referred to the centres for prenatal monitoring. Even without any new developments there is very much to do to bring all the information and services to the people who are in need of them. In this respect there is also an important task for the obstetrician to¬ day: prevention of congenital disease means knowledge about genes, mole¬ cules, cells and organs, and it implies information and skill with physical, chemical and cytological techniques. It also requires understanding about what people know and do not know, what they feel and really want. The most difficult part of the task, however, is to realise one's own limitations, to acknowledge other colleagues' greater expertise and to accept the relative unimportance of one's own opinion in decisions about the future progeny of somebody else. 15