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本文引用的文献

1
Clinical Application of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies in Central China.无创产前检测在中国中部地区性染色体非整倍体中的临床应用
Front Med (Lausanne). 2022 Jan 26;8:672211. doi: 10.3389/fmed.2021.672211. eCollection 2021.
2
Breast Cancer Risk and Screening in Transgender Persons: A Call for Inclusive Care.跨性别者的乳腺癌风险与筛查:呼吁提供包容的护理。
Ann Surg Oncol. 2022 Apr;29(4):2176-2180. doi: 10.1245/s10434-021-10217-5. Epub 2021 Jun 7.
3
Cell-free DNA Testing in Routine Practice: Characterisation of a Cohort with Positive Results for Trisomies, Sex Chromosome Anomalies and Microdeletions.常规实践中的游离DNA检测:三体、性染色体异常和微缺失检测结果呈阳性队列的特征分析
Geburtshilfe Frauenheilkd. 2021 Jan;81(1):81-89. doi: 10.1055/a-1226-6538. Epub 2020 Nov 24.
4
Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226.筛查胎儿染色体异常:ACOG 实践公告,第 226 号。
Obstet Gynecol. 2020 Oct;136(4):e48-e69. doi: 10.1097/AOG.0000000000004084.
5
Impact of cell-free DNA screening on parental knowledge of fetal sex and disorders of sex development.游离DNA筛查对父母关于胎儿性别及性发育异常知识的影响。
Prenat Diagn. 2020 Oct;40(11):1489-1496. doi: 10.1002/pd.5801. Epub 2020 Aug 17.
6
Discordant fetal sex on NIPT and ultrasound.无创产前检测(NIPT)与超声结果胎儿性别不一致。
Prenat Diagn. 2020 Oct;40(11):1353-1365. doi: 10.1002/pd.5676. Epub 2020 Aug 17.
7
Prenatal detection and evaluation of differences of sex development.性发育差异的产前检测和评估。
J Pediatr Urol. 2020 Feb;16(1):89-96. doi: 10.1016/j.jpurol.2019.11.005. Epub 2019 Nov 20.
8
Sex selection and non-invasive prenatal testing: A review of current practices, evidence, and ethical issues.性别选择与非侵入性产前检测:当前实践、证据与伦理问题综述。
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9
Size and Distribution of Transgender and Gender Nonconforming Populations: A Narrative Review.跨性别者和性别不一致人群的规模和分布:叙事性综述。
Endocrinol Metab Clin North Am. 2019 Jun;48(2):303-321. doi: 10.1016/j.ecl.2019.01.001.
10
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从儿科内分泌学家的角度来看,使用非侵入性产前筛查进行性别预测的伦理问题。

Ethical concerns surrounding sex prediction using noninvasive prenatal screening from pediatric endocrinologists' perspective.

机构信息

Division of Pediatric Endocrinology, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina, USA.

Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

出版信息

J Genet Couns. 2023 Oct;32(5):937-941. doi: 10.1002/jgc4.1649. Epub 2023 Jul 4.

DOI:10.1002/jgc4.1649
PMID:37401532
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10581910/
Abstract

Noninvasive prenatal screening (NIPS) with predicted fetal sex chromosomes included in the results has become increasingly available for pregnant individuals. Predicted fetal sex chromosome results from NIPS are interpreted so as to equate sex chromosomes with sex and gender. As pediatric endocrinologists, we worry about how this use of NIPS harmfully reinforces sex and gender binaries and sets potentially inaccurate assumptions about what the identified chromosomes mean. We use a hypothetical case based on our clinical experience in which the NIPS report of fetal sex does not conform to expectations at birth to highlight ethical concerns surrounding this practice. The use of NIPS for fetal sex chromosome prediction has the potential to perpetuate stigma and bring psychological harm to parents and their future children, particularly those who are intersex, transgender, and gender diverse. The medical community should adopt an approach to the use of NIPS for fetal sex chromosome prediction that recognizes the spectrums of sex and gender to avoid reproducing stigma towards sex- and gender-diverse individuals and associated harms.

摘要

包含预测胎儿性染色体结果的无创产前筛查 (NIPS) 越来越多地应用于孕妇。NIPS 预测胎儿性染色体的结果被解释为将性染色体等同于性别和性别认同。作为儿科内分泌学家,我们担心这种使用 NIPS 如何有害地强化性别二元论,并对所识别的染色体意味着什么做出潜在不准确的假设。我们使用基于我们临床经验的假设案例,其中 NIPS 报告的胎儿性别与出生时的预期不符,以突出围绕这种做法的伦理问题。使用 NIPS 预测胎儿性染色体可能会使父母及其未来的孩子(尤其是那些具有间性、跨性别和性别多样化的孩子)受到污名化和心理伤害。医学界应该采取一种使用 NIPS 预测胎儿性染色体的方法,该方法认识到性和性别认同的多样性,以避免对性别和性别多样化的个体及其相关伤害产生污名化。