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Pandora's pregnancy: NIPT, CMA, and genome sequencing—A new era for prenatal genetic testing
Author(s) -
HashiloniDolev Yael,
NovKlaiman Tamar,
Raz Aviad
Publication year - 2019
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5495
Subject(s) - exome sequencing , pregnancy , genetic counseling , exome , psychology , genetic testing , prenatal diagnosis , obstetrics , medicine , biology , fetus , genetics , mutation , gene
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.