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

Yael Hashiloni-Dolev, Tamar Nov-Klaiman, Aviad Raz

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

Objectives: 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.

Original languageEnglish
Pages (from-to)859-865
Number of pages7
JournalPrenatal Diagnosis
Volume39
Issue number10
DOIs
StatePublished - 1 Sep 2019

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