Cell-Free DNA Screening for Sex Chromosome Abnormalities and Pregnancy Outcomes, 2018–2020: A Retrospective Analysis

Lu, Yanmei; Zhou, Shihao; Linpeng, Siyuan; Ding, Siyi; Li, Shihong; Li, Yujiao; Shi, Liangcheng; He, Jun

doi:10.3390/jpm12010048

Cited by 8 publications

(1 citation statement)

References 25 publications

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“…The reported PPV for 45,X, which is particularly susceptible to the influence of placental and maternal mosaicism, is considerably lower than for the autosomal trisomies and other SCAs. A large retrospective analysis of SCAs reported PPVs for 45,X; 47,XXY; 47,XXX and 47,XYY as 18.14%, 58.73%, 80.29% and 71.19%, respectively 34 . In contrast, another study using a paired‐end sequencing method, which can help minimise the impact of maternal SCA mosaicism on false positive results, reported higher PPVs of 85.2%, 87.5%, 83.3% and 100% for 45,X; 47,XXY; 47,XXX and 47,XYY, respectively 35 …”

Section: Current Practicementioning

confidence: 99%

Ethical issues associated with prenatal screening using non‐invasive prenatal testing for sex chromosome aneuploidy

et al. 2022

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Prenatal screening for sex chromosome aneuploidies (SCAs) is increasingly available through expanded non-invasive prenatal testing (NIPT). NIPT for SCAs raises complex ethical issues for clinical providers, prospective parents and future children. This paper discusses the ethical issues that arise around NIPT for SCAs and current guidelines and protocols for management. The first section outlines current practice and the limitations of NIPT for SCAs. It then outlines key guidelines before discussing the ethical issues raised by this use of NIPT. We conclude that while screening for SCAs should be made available for people seeking to use NIPT, its implementation requires careful consideration of what, when and how information is provided to users. Key points What's already known about this area?� It is known that expanded non-invasive prenatal testing raises significant ethical issues, especially in relation to reproductive autonomy. What does this study add?� This study discusses ethical issues raised specifically by screening for sex chromosome aneuploidies (SCAs), in the context of current practice and existing guidelines. It shows that providing screening for SCAs is consistent with the principle of reproductive autonomy.This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

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Section: Current Practicementioning

confidence: 99%