Pandora’s pregnancy: NIPT, CMA, and genome sequencing—A new era for prenatal genetic testing


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Abstract

ObjectivesWe delineate in this article a shift from the “traditional” technologies of karyotyping in PND to the current phase of advanced genetic technologies including noninvasive prenatal testing (NIPT), chromosomal microarray analysis (CMA), and whole-exome sequencing (WES) with their higher detection rate and related abundance of uncertain data.MethodsConceptual analysis based on seminal works that shaped the socioethical discourse surrounding the experiences of parents as well as professionals with prenatal diagnosis in the last 30 years.ResultsWe consider the implications of this new era of PND for patients and health professionals by drawing on previous studies documenting how probability and uncertainty affect informed consent/choice, health risks communication, customer satisfaction and decision making, and parent-child bonding.ConclusionsWe argue that these changes move us beyond the idioms and realities of the tentative pregnancy and moral pioneering, to uncertainty, probability-based counseling, and moral/translational gambling. We conclude by discussing what is needed to maintain hope in the era of Pandora’s pregnancy.What’s already known about this topic?Prenatal diagnosis is known to transform the experience of pregnancy. Present-day technologies offer higher detection rate and related abundance of uncertainty, increasing the complexities involved in interpreting test results.What does this study add?It distinguishes two phases in the development of the field.It summarizes former discussions and offers a new conceptual analysis of the current phase.It argues that the current “Pandora’s pregnancy” era calls for nondeterministic counselling and an acknowledgment of the moral/translational gambling experience, complicating the ability to provide patients with information that they will find helpful.

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