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Genetic Testing, Birth, and the Quest for Health

机译：基因检测，出生和对健康的追求

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Newborn screening for genetic diseases has developed rapidly in Western countries. These biopolitics raise the question of birth as a sociological "knot" insofar as it is the threshold between the (possibly ill or disabled) child and the fetus. The question therefore addressed in this text, based on a field study of newborn screening for cystic fibrosis in France, is that of the link between the quest for good health (through treatment) and the elimination of poor health (by prenatal diagnosis). Do they reinforce each other or, on the contrary, are they contradictory? I analyze the positions of both mothers of screened children and clinicians regarding the following three points: prenatal diagnosis to preclude sets of sick siblings, identification of heterozygous individuals, and generalized prenatal screening. This study shows how increasingly attentive patient care and an increasingly demanding approach to prenatal diagnosis reinforce one another. It also analyzes the role of taking action early on and evaluating the lives of sick or disabled people in this process. In conclusion, I engage a more general discussion about what I suggest calling a "quality life."
机译：在西方国家，对遗传疾病的新生儿筛查已迅速发展。这些生物政治提出了作为社会学“结”的出生问题，因为它是（可能生病或残疾的）孩子与胎儿之间的界限。因此，本文基于法国对囊性纤维化新生儿筛查的现场研究，解决了这个问题，即寻求健康（通过治疗）和消除不良健康（通过产前诊断）之间的联系。它们是彼此增强还是相反？我从以下三个方面分析了被筛查儿童的母亲和临床医生的立场：产前诊断以排除患病的兄弟姐妹，识别杂合子个体，以及广义的产前筛查。这项研究表明，越来越细心的患者护理和对产前诊断的要求越来越高的方法如何相互补充。它还分析了在此过程中及早采取行动并评估病人或残疾人生活的作用。最后，我对我建议的“优质生活”进行了更广泛的讨论。

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