The Emergence and Global Spread of Noninvasive Prenatal Testing.

Since its introduction in 2011, noninvasive prenatal testing (NIPT) has spread rapidly around the world. It carries numerous benefits but also raises challenges, often related to sociocultural, legal, and economic contexts. This article describes the implementation of NIPT in nine countries, each with its own unique characteristics: Australia, Canada, China and Hong Kong, India, Israel, Lebanon, the Netherlands, the United Kingdom, and the United States. Themes covered for each country include the structure of the healthcare system, how NIPT is offered, counseling needs and resources, and cultural and legal context regarding disability and pregnancytermination. Some common issues emerge, including cost as a barrier to equitable access, the complexity of decision-making about public funding, and a shortage of appropriate resources that promote informed choice. Conversely, sociocultural values that underlie the use of NIPT vary greatly among countries. The issues described will become even more challenging as NIPT evolves from a second-tier to a first-tier screening test with expanded use.

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

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.

Attitudes of Israeli parents of children with Down syndrome toward non-invasive prenatal screening and the scope of prenatal testing.

Due to its early utilization and increasing ability to provide genetic information, non-invasive prenatal screening (NIPS) has reinforced social and bioethical quandaries concerning prenatal genetics. This paper presents exploratory findings based on 20 semi-structured interviews conducted in 2017-2019 with Israeli parents of children with Down syndrome (DS), four of whom also serving as representatives of DS organizations. Their views are presented regarding the pros and cons of NIPS; the social context of decision-making about NIPS; and views on life with DS and termination of pregnancies on that ground. While illustrating the large heterogeneity of views concerning NIPS and prenatal diagnosis (PND) amongst parents of children with DS, our respondents commonly criticized the imbalanced information provided by professionals regarding DS, seen as sending a discriminating message in line with the public ignorance surrounding DS. These views are further discussed in the multi-cultural, ableist and pro-natal context of Israeli society. We conclude by offering practical implications concerning NIPS, parental autonomy, and informed choice.

Negotiating severity behind the scenes: prenatal testing in Germany.

Foetal-related severity is a key concept in policy and legislation relating to access to both reproductive technologies and selective abortions in many countries around the world, but not in Germany. This study sheds light on how 'severity' in the context of prenatal testing is understood and negotiated within the particular socio-cultural and legal context of Germany, where 'severity' relating to foetal clinical findings neither counts as a justification to implement population prenatal screening programs, nor as a legal ground to terminate pregnancy. This study explores the views of women who undergo prenatal testing, as well as of professionals who encounter them, through semi-structured interviews. It showcases how they frame severity and questions whether the existing legal and regulatory framework relating to prenatal testing and termination of pregnancy addresses their concerns and needs regarding reproductive decision-making. The interviews (n = 27) reveal that despite it being legally outside the explicit reasons for testing and termination of pregnancy, both women and professionals negotiate severity behind the scenes. Their interpretation of severity is highly context-dependent and relies on clinical, social and familial facets. Their perceptions of severity guide them in their handling of and decision-making around pregnancy management. Acknowledging the personal nature of severity assessment and providing professional or legal guidance which explicitly mentions foetal anomaly as a legitimate factor in pregnancy management could provide healthcare professionals and patients with the room needed to manage the pregnancy favourably.

Views on disability and prenatal testing among families with Down syndrome and disability activists: A comparative analysis of interviews from Germany and Israel.

The prenatal genetic testing arena has witnessed great changes over the past decades and has been the focus of extensive discussion of its ethical, legal, and social implications. Germany and Israel were previously known for strongly contrasting regulations and attitudes of both professionals and laypeople towards genetic testing. Based on qualitative analysis of 37 semi-structured interviews, this study compares German and Israeli family members of individuals with Down syndrome and disability activists, thereby examining the interplay between lived experience and cultural scripts and their impact on the formation of personal views toward disability and prenatal testing. We have found that the differences between Germany and Israel remain, despite the emergence of new technologies, and that family members and disability activists reflect the norms of their socio-cultural environments, thereby emphasising the role society plays in shaping the views of those with direct experience of disability.

Upstream curved sequences in E. coli are related to the regulation of transcription initiation.

The advancement in Escherichia coli genome research has made the information regarding transcription start sites of many genes available. A study relying on the availability of transcription start locations was performed. The first question addressed was what an average DNA curvature profile upstream of genes would look like when these genes are aligned by transcription start sites in comparison to alignment by translation start sites. Since it was hypothesized that curvature plays a role in transcription regulation, the expectation was that curvature measurements relative to transcription starts, rather than translation, should strengthen the signal. Our study justified this expectation. The second question aimed to clarify the relation between DNA curvature and promoter strength. Through clustering based on DNA curvature profiles along promoter regions, a strong positive correlation between the promoter strength and the curved DNA was found. The third question dealt with dinucleotide periodicity in E. coli to see whether a periodicity pattern specific to promoter regions exists. Such unknown pattern might shed new light on transcription regulation mechanisms in E. coli. A sequence periodicity of about 11 bp is characteristic to the whole E. coli genome, and is especially well-expressed in intergenic regions. Here it was shown that regions of the size of about 100-150 bp centered 70-100 bp upstream to transcription starts carry hidden periodicity with a period of about 10.3 bp.