Genetic Testing, Birth, and the Quest for Health

Abstract

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.”

Prenatal and Preimplantation Diagnosis

“…Many have confi rmed this, expanding the original fi nding by observing that grief increases with lack of supportive medical providers and friends/family, high levels of self-blame, being childless, strong religious beliefs, and lack of confi dence in the decision (Geerinck-Vercammen and Kanhai 2003 ;Kersting et al 2004 ;Korenromp et al 1992 ;. Others have noted that grief also occurs when a baby is diagnosed with an anomaly at birth (Macinnes 2008 ;Vailly 2014 ); that grief may lead to changes in future childbearing choices and to a sense of guilt. Several research studies suggest that women who see and hold their babies after TOPFA (where induced delivery is the method of termination) may experience less intense levels of grief (Geerinck-Vercammen and Kanhai 2003 ;Kersting et al 2004 ).…”

“…Women whose fetus has a condition that is likely to affect the child's quality of life (but not an inherently lethal condition) often struggle with their decisions more than do those with a fetus with a lethal disorder as they must weigh their views of what a "quality life" is (Garcia et al 2009 ;Vailly 2014 ), their views about individuals with disability (Bryant et al 2005 ;Lawson 2001 ), the ethical imperatives of pregnancy (Miller et al 2012 ), and what they believe they and their family can manage in terms of care for a child with a disability . In addition, these decisions are also population based, both in terms of the diagnosis of the fetus and the demographic characteristics of the mother.…”

An Elephant in the Consultation Room?: Configuring Down Syndrome in British Antenatal Care

“…In this article, I unpack how Down syndrome is discussed within prenatal screening consultations. Many authors capture the problematic relationship between disability and reproductive technologies (Ginsburg and Rapp , ; Ivry ; Landsman ; Parens and Asch ; Rapp , ; Rothman ; Shakespeare ; Vailly ). However, some of these accounts are guilty of two charges.…”