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

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.

What is the meaning of a ‘genomic result’ in the context of pregnancy?

“…Whilst being able to offer prenatal tests without the risk of miscarriage is something to celebrate, there are risks that their technical safety will lead to people thinking of prenatal testing as 'risk-free' and routine. This may mean that more people have prenatal genomic testing without having thought in detail as to whether they truly want to know the information that it might provide, and perhaps without being aware that its outcome may be very uncertain (23,36). We argue that as part of the consent process for prenatal genomic testing, it is essential to be explicit about the necessary involvement of scientists and clinicians in the process of interpreting data to produce genomic results.…”

“…The changing landscape around prenatal testing Early prenatal tests sought to determine whether a fetus had inherited a genetic condition that had affected others in the family, for example cystic fibrosis or Tay-Sachs disease, or to check whether unusual features in a pregnancy might be explained by a major chromosomal anomaly. Whilst the results of such tests might leave prospective parents with difficult choices, there was usually a clear clinical indication for the test, and some certainty as to what the results might mean(23). For such pregnancies, genomic testing will aim to give clarity: highly uncertain or tentative genotypic findings may be unhelpful, and vulnerable to being given greater weight than might be warranted from a technical scientific perspective, but the already identified clinical problem provides a lens through which to interpret the genomic data.Defining results from genome testing in pregnancy 9…”

Prenatal screening diagnosis and management in the era of coronavirus: the Sardinian experience

“…The new approaches depend on new screening methods, ultrasound fetal abnormalities, obstetrician and laboratory experience, earliest prenatal diagnosis, low fetal loss risk, analysis accuracy, molecular genetic diagnosis, laboratory availability, legal aspects, ethics, public/ private healtcare issues, ethics, costs and patient choices [28,29,[34][35][36][37][38].…”

Personalized prenatal genomic testing: Couples' experience with choice regarding uncertain and adult‐onset findings from chromosomal‐microarray‐analysis

“…Disclosure policy of uncertain findings differs between countries and medical centers, with no standard or uniform protocol 6 . In countries where defensive medicine is more prominently practiced, full disclosure of genomic test results may reflect a fear of lawsuits rather than medical benefit 7,8 . It could be argued that providing parental choice regarding uncertain results may mitigate the fear of litigation by reducing information overload.…”