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

Prenatal Diagnosis - Tập 39 Số 10 - Trang 859-865 - 2019
Yael Hashiloni‐Dolev1, Tamar Nov‐Klaiman1, Aviad E. Raz1
1Department of Sociology and Anthropology, Ben-Gurion University of The Negev, Beersheba, Israel

Tóm tắt

AbstractObjectives

We 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.

Methods

Conceptual 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.

Results

We 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.

Conclusions

We 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.

Từ khóa


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