Search

Prenatal screening for foetal abnormalities such as Down's syndrome differs from other forms of population screening in that the usual aim of achieving health gains through treatment or prevention does not seem to apply. This type of screening leads to no other options but the choice between continuing or terminating the pregnancy and can only be morally justified if its aim is to provide meaningful options for reproductive choice to pregnant women and their partners. However, this aim should not be understood as maximizing reproductive choice per se. Only if understood as allowing prospective parents to avoid suffering related to living with (a child with) serious disorders and handicaps can prenatal screening be a publicly or collectively funded programme. The alternative of moving prenatal testing outside the healthcare system into the private sector is problematic, as it makes these tests accessible only to those who can afford to pay for it. New developments in prenatal screening will have to be assessed in terms of whether and to what extent they either contribute to or undermine the stated aim of providing meaningful options for reproductive choice. In the light of this criterion, this article discusses the introduction of the new non-invasive prenatal test (NIPT), the tendency to widen the scope of follow-up testing, as well as the possible future scenarios of genome-wide screening and 'prenatal personalised medicine'. The article ends with recommendations for further debate, research and analysis., (© 2014 John Wiley & Sons Ltd.)

Genomic microarray analysis is increasingly being applied as a prenatal diagnostic tool. Microarrays enable searching the genome at a higher resolution and with higher sensitivity than conventional karyotyping for identifying clinically significant chromosomal abnormalities. As yet, no clear guidelines exist on whether microarrays should be applied prenatally for all indications or only in selected cases such as ultrasound abnormalities, whether a targeted or genome-wide array should be used, and what these should include exactly. In this paper, we present some ethical considerations on the prenatal use of microarrays. There is a strong consensus, at least in Western countries, that the aim of prenatal screening for foetal abnormalities should be understood as facilitating autonomous reproductive choice for prospective parents. The tests offered should be valid and useful to reach that purpose. Against this background, we address several ethical issues raised by the prenatal application of microarrays. First, we argue that the general distinction between a targeted and a genome-wide microarray needs to be scrutinised. Then we examine whether microarrays are 'suitable tests' to serve either a screening or a diagnostic purpose. Given the wide range of findings possibly generated by microarrays, the question arises whether microarrays actually promote or interfere with autonomous reproductive decision-making. Moreover, if variants of unknown clinical significance are identified, this adds to the burden and complexity of reproductive decision-making. We suggest a qualified use of microarrays in the prenatal context.

The advent of new genetic and genomic technologies may cause friction with the principle of respect for autonomy and demands a rethinking of traditional interpretations of the concept of informed consent. Technologies such as whole-genome sequencing and micro-array based analysis enable genome-wide testing for many heterogeneous abnormalities and predispositions simultaneously. This may challenge the feasibility of providing adequate pre-test information and achieving autonomous decision-making. At a symposium held at the 11th World Congress of Bioethics in June 2012 (Rotterdam), organized by the International Association of Bioethics, these challenges were presented for three different areas in which these so-called 'new genetics' technologies are increasingly being applied: newborn screening, prenatal screening strategies and commercial personal genome testing. In this article, we build upon the existing ethical framework for a responsible set-up of testing and screening offers and reinterpret some of its criteria in the light of the new genetics. As we will argue, the scope of a responsible testing or screening offer should align with the purpose(s) of testing and with the principle of respect for autonomy for all stakeholders involved, including (future) children. Informed consent is a prerequisite but requires a new approach. We present preliminary and general directions for an individualized or differentiated set-up of the testing offer and for the informed consent process. With this article we wish to contribute to the formation of new ideas on how to tackle the issues of autonomy and informed consent for (public) healthcare and direct-to-consumer applications of the new genetics., (© 2013 John Wiley & Sons Ltd.)

In the Netherlands prenatal diagnosis after screening for chromosomal abnormalities is done by karyotyping and is restricted to pregnant women with an increased risk of a child with trisomy 21, 18 or 13. However, karyotyping will detect a wider range of chromosomal abnormalities. Replacing karyotyping by rapid aneuploidy diagnosis (RAD) - a test with a more narrow scope - is currently under discussion. A possible drawback of RAD is that some rare but clinically relevant abnormalities may be missed. A possible advantage is that pregnant women will not be confronted with outcomes that the screening was not initially directed at. Each delineation of the scope of prenatal testing implies a normative choice that requires justification. Moral principles can be invoked for both narrowing down and further broadening of the scope of testing.

We studied the experiences of children identified by family screening who were found to be a mutation carrier for a genetic cardiovascular disease (Long QT Syndrome (LQTS), Hypertrophic Cardiomyopathy (HCM), Familial Hypercholesterolemia (FH)). We addressed the (a) manner in which they perceive their carrier status, (b) impact on their daily lives, and (c) strategy used to cope with these consequences. Children (aged 8-18) who tested positive for LQTS (n=11), HCM (n=6) or FH (n=16), and their parents participated in semi-structured audiotaped interviews. Interview topics included illness perception, use of medication, lifestyle modifications, worries, and coping. Each interview was coded by two researchers. The qualitative analysis was guided by Leventhal's model of self-regulation. The children were overall quite articulate about the disease they were tested for, including its mode of inheritance. They expressed positive future health perceptions, but feelings of controllability varied. Adherence and side-effects were significant themes with regard to medication-use. Refraining from activities and maintaining a non-fat diet were themes concerning lifestyle modifications. Some children spontaneously reported worries about the possibility of dying and frustration about being different from peers. Children coped with these worries by expressing faith in the effectiveness of medication, trying to be similar to peers or, in contrast, emphasizing their "being different." Children generally appeared effective in the way they coped with their carrier status and its implications. Nevertheless, dealing with the daily implications of their condition remains difficult in some situations, warranting continued availability of psychosocial support., (Copyright (c) 2008 Wiley-Liss, Inc.)

The article discusses the guidelines by the Quality Committee of the European Society of Human Genetics (ESHG) on whole-genome sequencing (WGS) in health care. It states that WGS is used for diagnosing severely-ill infants who are in neonatal intensive care. It highlights the role of the Public and Professional Policy Committee (PPPC) and the recommendations by ESHG on minors' genetic testing.

Prenatal screening strategies are undergoing rapid changes owing to the introduction of new testing techniques. The overall tendency is towards broadening the scope of prenatal testing through increasingly sensitive ultrasound scans and genome-wide molecular tests. In addition, non-invasive prenatal diagnosis is likely to be introduced in the near future. These developments raise important ethical questions concerning meaningful reproductive choice, the autonomy rights of future children, equity of access and the proportionality of testing. [ABSTRACT FROM AUTHOR]