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Abortion, Disability Rights, and Reproductive Justice
Published in Joel Michael Reynolds, Christine Wieseler, The Disability Bioethics Reader, 2022
Prenatal testing entails complex harms, in tension with one another. But a robust account of harm ought not engage in thinking it an individual thing; rather, it needs to see “harm” as something that is brought forth systemically, and does not buy into the individuation that our system of rights and redress attempts to instantiate. A strong commitment to autonomy, to reproductive rights, to the value of notions of interdependence may orient a person faced with the need to make decisions about prenatal testing toward particular outcomes. But even such commitments do not make the question of what to do (skip prenatal testing? Refuse termination? Make choices while stipulating the need for ignorance about sex, disabling traits?) obvious. This chapter, accordingly, has not pretended to offer easy answers as to what to do. Instead, it offered an account of one reason why reckoning with those harms is so complicated: because the translation of things that are complicated and collective into the assertion that they are concrete and individual doesn’t actually make them so.
Genetic Counseling
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Zoltán Papp, Valéria Váradi, Júlia Hajdú
The couples decide whether or not to undertake pregnancy and they decide whether or not to accept an offer of prenatal diagnosis. However, prenatal testing is time-consuming, laborious, and expensive; it uses human resources and materials that are, as a result, not available to others; it involves certain risks for the mother and fetus. If a couple are convinced that they would not terminate pregnancy in any event (an “affected” fetus), they will probably also be convinced that the risks, to mother and pregnancy, are not worth taking.
Rubinstein−Taybi Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
RTS typically results from a de novo pathogenic variant, and most affected individuals represent simplex cases or the only affected member in their family. Therefore, if their parents are clinically unaffected and/or harbor no CREBBP or EP300 pathogenic variants, their siblings have <1% chance of acquiring RTS. Inherited through an autosomal dominant pattern, RTS patients have a 50% risk of passing the disorder to their offspring. Prenatal testing is possible for pregnancies at increased risk if the pathogenic variant or deletion is known in the family.
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
In the past decade, the development of sequencing techniques for NIPS has been described in numerous studies. However, the overall progress of the NIPS approach has not been adequately reviewed. In this review, we initially describe the detection principles for sequencing-based NIPS. Here, we summarize the rapidly evolving amplification technologies with a focus on cost reduction and simplicity of the processes. In addition to cffDNA, extracellular vesicle DNA (evDNA), RNA, protein/peptide, and fetal cells can also be utilized as biomarkers of NIPS (Table 2). The sources of these biomarkers and their detection methods are shown in Figure 2. Considering that the ultimate aim of a test is its clinical application, we evaluated the clinical validity of each potential biomarker (Table 3), followed by their quality assurance. This comprehensive review provides a new perspective for the future development of prenatal testing.
Prenatal Testing for Non-Medical Traits
Published in The American Journal of Bioethics, 2023
So, at some level there is a crucial question of whether some potential parents would terminate a pregnancy based on non-medical traits. Unfortunately, the answer to that question is known and it is “yes.” It has been well documented that in many countries where there is a cultural preference for sons over daughters, the ratio of boys to girls is skewed and not biologically plausible. This is particularly relevant to the discussion here because starting in the 1980s these questions became linked to the development of a prenatal testing technology: namely, ultrasound. Coincident with the widespread introduction of this technology, South Korea, India and China all began reporting very high sex ratios at birth, and under China’s “One Child” policy up to one million excess male births were reported every year. Over time, this has resulted in estimates of 80 million missing females in China and India alone (Therese Hesketh and Zhu Wei Xing 2006). It is thus apparent that when the cultural and legal stakes are high enough, parents will use technology to make decisions to terminate pregnancies based on non-medical traits.
Prenatal sonographic findings in a cohort of foetuses with a confirmed 22q11.2 microdeletion at a single Chinese Tertiary Centre
Published in Journal of Obstetrics and Gynaecology, 2022
Xiang-Yi Jing, Yong-Ling Zhang, Li Zhen, Yan-Lin Li, Dong-Zhi Li
This was a retrospective study approved by the medical ethical committee of the Guangzhou Women and Children’s Medical Centre (NO. 2021063800). The informed consent was obtained for the prenatal testing from all patients of this study with pre-test and posttest counselling. During the study period, our centre served as one of the tertiary referral prenatal diagnostic centres across southern China for pregnancies at risk for genetic conditions. Approximately 4000 prenatal cytogenetic tests, and 1000 prenatal molecular tests were performed each year at our centre for patients from our own hospital and for those referred from local and neighbouring hospitals, which guaranteed a sufficient number of patients with del22q11.2 being recruited. The consecutive cases of the del22q11.2 diagnosed prenatally from January 2013 to December 2020 were reviewed. All cases were diagnosed by using the chromosomal microarray analysis (CMA). Only cases with pure del22q11.2 were included, and those simultaneously involving other chromosomal abnormalities were excluded. The clinical data were collected for review from recruited cases, including the maternal demographics, indications for invasive testing, foetal sonographic findings, CMA results and pregnancy outcomes.