Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices

Abstract

New technologies such as non-invasive prenatal testing (NIPT), capable of analyzing cell-free fetal DNA in the maternal bloodstream, have become increasingly widespread and available, which has in turn led to ethical and policy challenges that need addressing. NIPT is not yet a diagnostic tool, but can still provide information about fetal genetic characteristics (including sex) very early in pregnancy, and there is no denying that it offers valuable opportunities for pregnant women, particularly those at high risk of having a child with severe genetic disorders or seeking an alternative to invasive prenatal testing. Nonetheless, the ethical, legal and social implications (ELSI) include multiple aspects of informed decision-making, which can entail risks for the individual right to procreative autonomy, in addition to the potential threats posed by sex-selective termination of pregnancy (in light of the information about fetal sex within the first trimester), and the stigmatization and discrimination of disabled individuals. After taking such daunting challenges into account and addressing NIPT-related medicolegal complexities, the review’s authors highlight the need for an ethically and legally sustainable framework for the implementation of NIPT, which seems poised to become a diagnostic tool, as its scope is likely to broaden in the near future.

İnvaziv Olmayan Prenatal Teste Etik Bakış

“…Ancak NIPT için yanlış pozitiflik bilinmektedir 5,9 . Ayrıca, NIPT pozitif sonucunun gebe kadın ve çiftlerin gebeliği sonlandırma kararına yol açabileceği veya en azından katkıda bulunacağı için ahlaki açıdan hassas bir uygulama olduğu belirtilmektedir 23 .…”

Risk Assessment of the Increased Occurrence of Congenital Cardiac and Non-Cardiac Defects in Fetuses with a Normal Karyotype after Assisted Fertilization in Comparison to Natural Fertilization Based on Ultrasound Diagnostics

“…These are not yet recognized diagnostic methods, but in light of the emerging ethical dilemmas for invasive prenatal testing, NIPT is gaining importance. It is a highly sensitive, specific screening technique that can be used at an early stage, e.g., detection of chromosomal aneuploidies or submicroscopic copy number variations (CNVs) [ 57 , 58 ]. Zaami et al [ 58 ] also emphasized that the development of non-invasive methods is an important step in counteracting dangerous and unethical trends in selective reproductive technologies (SRTs) and eugenics [ 58 ].…”

CRISPR-Cas and Its Wide-Ranging Applications: From Human Genome Editing to Environmental Implications, Technical Limitations, Hazards and Bioethical Issues

“…As the United States National Academy of Science (NAS) stated in a report issued in 2020, in fact, neither the currently available editing technologies, nor sequencing embryonic DNA, aimed at keeping in check possible off-target effects, are as yet reliable enough, hence strict criteria ought to be met for couples to avail themselves of such techniques in order to have biological children that will not inherit the mutation. Key factors include the nature or severity of the disease, awareness of correlations between genotype–phenotype, and the availability of already mentioned alternative options, such as prenatal genetic testing (PGT) and noninvasive genetic diagnosis (NIPT) [ 128 ]. Not all possible applications of heritable human germline editing can rely on responsible translation pathways, hence a thorough risk–benefit analysis rests on multiple complex variables from which an assessment has to be worked out: disease severity, the genetic situation of the couple, the mode of inheritance of the disease, the nature of the proposed sequence change, and the availability of alternatives [ 129 ].…”