Publications by authors named "Sanne van der Hout"
Article Synopsis
- A study in the Netherlands evaluated the effectiveness of first-trimester anomaly scans to detect fetal structural defects in pregnant women as part of a nationwide prenatal screening program from November 2021 to November 2022.
- The study found that 74.9% of eligible women opted for the scan, and among those, 1.0% were flagged for potential anomalies while 54.9% of those cases were confirmed with abnormal findings in follow-up scans.
- The results highlighted the types of anomalies identified, including 332 structural and 117 genetic anomalies, indicating the scan's usefulness for early decision-making regarding reproductive options.
Expanded carrier screening (ECS) entails a screening offer for multiple recessive disorders at the same time, and allows testing of individuals or couples regardless of ancestry or geographic origin. Children of consanguineous couples have a higher-than-average risk of manifesting autosomal recessive disorders. This study aims to contribute to the responsible implementation of ECS for consanguineous couples.
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- First-trimester ultrasound screening for fetal anomalies is increasingly common in developed countries, promoting reproductive autonomy for parents.
- A survey of 47 prenatal screening experts revealed that screening is available in 30 out of 33 countries, but there are significant disparities in protocols and quality assessments across regions.
- The study concludes that while screening is widely offered, variations in availability, anatomy assessment, and training lead to inconsistent experiences for parents, highlighting the need for standardization in screening practices.
Article Synopsis
- - The study explored the perspectives of primary care professionals in the Netherlands regarding population-based expanded carrier screening (ECS) for recessive diseases, which is offered to couples considering pregnancy.
- - Participants acknowledged the potential benefits of ECS for reproductive autonomy but expressed concerns about ethical implications, societal pressure for a "perfect" society, and access disparities.
- - Most general practitioners felt less equipped to provide ECS compared to midwives, yet there was a consensus that ECS should be offered in primary care settings to enhance accessibility, indicating a need for further studies on its desirability and implementation.
Expanded carrier screening (ECS) entails a screening offer for carrier status for multiple recessive disorders simultaneously and allows testing of couples or individuals regardless of ancestry or geographic origin. Although universal ECS-referring to a screening offer for the general population-has generated considerable ethical debate, little attention has been given to the ethics of preconception ECS for patients applying for assisted reproduction using their own gametes. There are several reasons why it is time for a systematic reflection on this practice.
View Article and Find Full Text PDFExpanded universal carrier screening (EUCS) entails a population-wide screening offer for multiple disease-causing mutations simultaneously. Although there is much debate about the conditions under which EUCS can responsibly be introduced, there seems to be little discussion about its aim: providing carrier couples with options for autonomous reproductive choice. While this links in with current accounts of the aim of foetal anomaly screening, it is different from how the aim of ancestry-based carrier screening has traditionally been understood: reducing the disease burden in the population.
View Article and Find Full Text PDFExpanded universal carrier screening (EUCS) entails a twofold expansion of long-standing (preconception) carrier screening programmes: it not only allows the simultaneous screening of a large list of diseases ('expanded'), but also refers to a pan-ethnic screening offer ('universal'). Advocates mention three main moral advantages of EUCS as compared with traditional (targeted and/or ancestry-based) forms of carrier screening: EUCS will (1) maximise opportunities for autonomous reproductive choice by informing prospective parents about a much wider array of reproductive risks; (2) provide equity of access to carrier testing services; (3) reduce the risk of stigmatisation. This empirical ethics study aims to widen this account and provide a balanced picture of the potential pros and cons of EUCS.
View Article and Find Full Text PDFNature is (a) mine: conceptions of nature in the Dutch ecogenomics community.
Life Sci Soc Policy
December 2014
Every field of science, but especially biology, contains particular conceptions of nature. These conceptions are not merely epistemological or ontological, but also have normative dimensions; they provide an ethos, a framework for moral orientation. These normative dimensions, whilst often remaining 'hidden' and inarticulate, influence the way in which biologists practice their profession.
View Article and Find Full Text PDFThe emerging field of ecological genomics promises to bring about a marriage between ecological and laboratory-based, genomic investigations. In this paper, I will reflect on this promise by exploring how ecology and genomics are integrated in the two approaches that currently dominate this field: the organism-centred approach, focusing on individual (model) organisms, and the metagenomic approach, concentrating on (the metagenome of) entire microbial communities composed of a variety of species. I will show that both approaches have already taken some important steps in bridging the gap between genomics and ecology.
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