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Genomic technologies
Published in Wendy A. Rogers, Jackie Leach Scully, Stacy M. Carter, Vikki A. Entwistle, Catherine Mills, The Routledge Handbook of Feminist Bioethics, 2022
Once pregnancy is established, these technologies can be used for prenatal testing and screening in order to detect fetuses at risk for certain diseases or disabilities (Wojcik et al. 2020). Such identification allows women to make decisions about continuing with a pregnancy and, in some cases, can help with early treatment. Prenatal genomic testing and screening techniques can be employed for a variety of reasons, including a family history of genetic disease, cases of advanced maternal or paternal age, or follow-up for an anomaly found by other screening tests such as obstetric ultrasound. For example, noninvasive prenatal testing (NIPT) for fetal chromosomal abnormalities is already widely used in the clinical setting (Breveglieri et al. 2019), and is rapidly expanding to include genome-wide analysis.
Non-Invasive Prenatal Testing (NIPT)
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Nuria Balaguer, Emilia Mateu-Brull, Miguel Milán
Non-invasive prenatal testing (NIPT) is a class of screening for fetal chromosomal or genetic conditions utilizing cell-free fetal DNA (cffDNA) in maternal plasma or serum (1). Until the development of this tool, the diagnosis of fetal chromosomal or genetic disorders required invasive sampling of fetal or placental tissues by amniocentesis or chorionic villus sampling (CVS). Although accurate, invasive sampling procedures involve a small but definite risk of fetal loss and maternal morbidity (2). Therefore, non-invasive methods of prenatal testing, like NIPT, are highly favored.
Preimplantation Genetic Testing and Reproductive Genetics from a Physician's Perspective
Published in Darren K. Griffin, Gary L. Harton, Preimplantation Genetic Testing, 2020
If needed, feedback on therapeutic results can be provided by prenatal follow-up assessments using invasive or noninvasive methods. Such tests should be used where there are factors with an impact on test sensitivity or specificity, including, e.g., the transfer of mosaic embryos. Noninvasive prenatal testing (NIPT) is based on the presence of free fetal DNA released from apoptotic placental cells in the mother's blood [47]. Currently, in cases of mosaic embryo transfers, it is universally recommended to use invasive methods; however, future use of noninvasive tests is not unthinkable with the increasing robustness and accuracy of NIPT methods.
Focus on the frontier issue: progress in noninvasive prenatal screening for fetal trisomy from clinical perspectives
Published in Critical Reviews in Clinical Laboratory Sciences, 2023
Meng Tian, Lei Feng, Jinming Li, Rui Zhang
The discovery of cell-free fetal DNA (cffDNA) in maternal blood and the rapid development of massively parallel sequencing (MPS) have provided unprecedented opportunities for noninvasive prenatal genetic testing of common fetal trisomy disorders (Figure 1(A)) [7]. Noninvasive prenatal screening (NIPS), also called noninvasive prenatal testing (NIPT), is a risk-free method based on the presence of cell-free DNA (cfDNA) in the plasma of pregnant women. This method aims to detect any functional or structural abnormalities in the developing fetus as early as possible to guide clinical decision-making [8,9]. The risk of fetal chromosomal aneuploidy can be calculated by collecting maternal peripheral blood, extracting cfDNA, and performing next-generation sequencing (NGS) technology supplemented by bioinformatics analysis [9]. The diagnostic procedure is illustrated in Figure 1(B).
Consistency of What? Appropriately Contextualizing Ethical Analysis of Non-Invasive Prenatal Testing
Published in The American Journal of Bioethics, 2023
Ainsley J. Newson, Zuzana Deans, Lisa Dive, Isabella Catherine Holmes
It is unarguable that the implementation and use of noninvasive prenatal testing (NIPT) should be critical and appropriate. After all, decisions that influence when and how to have children have utmost ethical significance. Bowman-Smart et al. (2023) argue that the implementation of NIPT should be consistent. They also suggest that, at present, consistency is not being achieved when it comes to decisions about seeking information via NIPT. Their position seems to be that the distinction between medical and non-medical traits is less relevant than the importance of the phenotype itself. The right approach, on their view, is one in which information provision “focuses on the morally relevant features of a trait.” They also imply that, because a wide range of information may inform “what lives [prospective parents] want their children to have,” NIPT should not be confined to reporting information about “medical” considerations.
Prenatal chromosomal microarray analysis in foetuses with isolated absent or hypoplastic nasal bone
Published in Annals of Medicine, 2022
Xiaomei Shi, Jian Lu, Ling Li, Ran Wei, Jing Wu
Cell-free DNA or so-called non-invasive prenatal testing (NIPT) is now widely used in clinical practice as a prenatal screening method for common aneuploidies. It also has the potential to detect foetal CNVs, but with false-positive and false-negative results. Recent studies have showed that the accuracy of NIPT for CNVs is still unsatisfactory and needs to be improved [20,21]. CMA is still the most effective method for CNVs detection. On the other hand, conventional karyotyping can identify the majority of foetal chromosomal abnormalities, at a resolution of greater than 10 Mb. In this study, the deletion or duplication sizes of the seven cases were ranged from 713 kb to 4.9 Mb, and all of them may not be diagnosed by the G-banding karyotyping. Finally, from a patient's point of view, they want to exclude as many abnormalities as possible to ensure that the foetus is healthy. Therefore, for prenatal genetic counselling, counsellors should discuss the possibility of pathogenic CNVs to parents when foetuses with isolated absent or hypoplastic NB. CMA should be recommended when isolated absent or hypoplastic NB is suspected antenatally.