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J Assist Reprod Genet. 2022 Jun;39(6):1219-1224. doi: 10.1007/s10815-022-02489-x. Epub 2022 Jun 1.
2
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Cell-free DNA vs sequential screening for the detection of fetal chromosomal abnormalities.游离胎儿 DNA 检测与序贯筛查在胎儿染色体异常检测中的应用比较。
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Is cell-free fetal DNA testing a safe option for women in a high-risk population after combined first-trimester testing?在联合早孕期筛查后,对于高危人群的女性,游离胎儿 DNA 检测是否是一种安全的选择?
J Gynecol Obstet Hum Reprod. 2022 Apr;51(4):102329. doi: 10.1016/j.jogoh.2022.102329. Epub 2022 Jan 31.

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Cell-Free DNA Analysis of Fetal Aneuploidies in Early Pregnancy Loss.早期妊娠丢失中胎儿非整倍体的游离DNA分析
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What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?有反复流产史且父母一方存在平衡重排的夫妇中,有多大比例可以通过游离DNA基因分型来识别?
Mol Cytogenet. 2023 Sep 29;16(1):26. doi: 10.1186/s13039-023-00657-x.

本文引用的文献

1
Economic impact of using maternal plasma cell-free DNA testing to guide further workup in recurrent pregnancy loss.使用母体外周血游离细胞 DNA 检测指导复发性妊娠丢失进一步检查的经济影响。
Prenat Diagn. 2021 Sep;41(10):1215-1221. doi: 10.1002/pd.5972. Epub 2021 May 24.
2
Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort.前瞻性队列研究中产前外显子组测序对胎儿基因诊断的母体心理结局和决策冲突的影响。
Genet Med. 2021 Apr;23(4):713-719. doi: 10.1038/s41436-020-01025-5. Epub 2020 Nov 20.
3
Cell-Free DNA in the Investigation of Miscarriage.游离DNA在流产研究中的应用
J Clin Med. 2020 Oct 26;9(11):3428. doi: 10.3390/jcm9113428.
4
Differences in post-traumatic stress, anxiety and depression following miscarriage or ectopic pregnancy between women and their partners: multicenter prospective cohort study.流产或异位妊娠后女性及其伴侣的创伤后应激、焦虑和抑郁的差异:多中心前瞻性队列研究。
Ultrasound Obstet Gynecol. 2021 Jan;57(1):141-148. doi: 10.1002/uog.23147.
5
Maternal plasma genome-wide cell-free DNA can detect fetal aneuploidy in early and recurrent pregnancy loss and can be used to direct further workup.母体血浆游离基因组 DNA 可检测早发性和复发性妊娠丢失胎儿的非整倍体,并可用于指导进一步的检查。
Hum Reprod. 2020 May 1;35(5):1222-1229. doi: 10.1093/humrep/deaa073.
6
The psychological impact of early pregnancy loss.早期妊娠丢失的心理影响。
Hum Reprod Update. 2018 Nov 1;24(6):731-749. doi: 10.1093/humupd/dmy025.
7
Patient-centered early pregnancy care: a systematic review of quantitative and qualitative studies on the perspectives of women and their partners.以患者为中心的早孕保健:对女性及其伴侣观点的定量和定性研究的系统评价。
Hum Reprod Update. 2018 Jan 1;24(1):106-118. doi: 10.1093/humupd/dmx030.
8
Psychological and support interventions to reduce levels of stress, anxiety or depression on women's subsequent pregnancy with a history of miscarriage: an empty systematic review.针对有流产史女性后续妊娠时减轻压力、焦虑或抑郁水平的心理及支持性干预措施:一项无效的系统评价。
BMJ Open. 2017 Sep 7;7(9):e017802. doi: 10.1136/bmjopen-2017-017802.
9
Post-traumatic stress, anxiety and depression following miscarriage or ectopic pregnancy: a prospective cohort study.流产或宫外孕后的创伤后应激障碍、焦虑和抑郁:一项前瞻性队列研究。
BMJ Open. 2016 Nov 2;6(11):e011864. doi: 10.1136/bmjopen-2016-011864.
10
Depression and Anxiety Following Early Pregnancy Loss: Recommendations for Primary Care Providers.早期妊娠丢失后的抑郁与焦虑:对初级保健提供者的建议
Prim Care Companion CNS Disord. 2015 Jan 29;17(1). doi: 10.4088/PCC.14r01721. eCollection 2015.

游离细胞 DNA(cfDNA)检测能否减轻早期流产的心理困扰?评论。

Can cell-free DNA (cfDNA) testing alleviate psychological distress in early miscarriage? A commentary.

机构信息

Department of Biomolecular Science, New York University Tandon School of Engineering, New York, NY, USA.

Department of Biology and School of Global Public Health, New York University School of Arts and Sciences, New York, NY, USA.

出版信息

J Assist Reprod Genet. 2022 Jun;39(6):1219-1224. doi: 10.1007/s10815-022-02489-x. Epub 2022 Jun 1.

DOI:10.1007/s10815-022-02489-x
PMID:35648322
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9174404/
Abstract

BACKGROUND

Psychological, emotional, and mental distress affects many patients who experience early pregnancy loss (EPL). A common concern is that the patient's actions or choices caused the loss. Understanding the cause of EPL may improve the distress of EPL patients and their partners. Chromosomal abnormalities leading to a significant portion of EPL. Cell-free DNA (cfDNA) testing, a non-invasive test providing high quality information about the chromosomal makeup of a fetus, may offer assurance that a fetal abnormality caused the loss, and provide more certainty or closure in processing EPL. CfDNA may be a useful adjunct to patient-centered care in the setting of EPL. This commentary explores the possibility of cfDNA testing in lessening the emotional distress that often accompanies EPL.

METHODS

The peer reviewed literature was explored for manuscripts addressing (1) the potential for cfDNA serum testing for patients experiencing EPL and screening products of conception to determine the cause of EPL; and/or (2) the impact that information might have on the psychological morbidity of EPL for patients and their partners. Themes generated from extracted data were used to generate key questions for future research.

RESULTS

Preliminary findings suggest fetal fraction values are instrumental in the success of cfDNA testing, and a successful cfDNA testing experience can have a positive impact on patients.

CONCLUSIONS

Ultimately, we conclude cfDNA testing could have a positive impact in patient care and improve the well-being of patients undergoing the emotional toll of EPL by reducing feelings of guilt and providing closure to those who learn the loss was associated with chromosomal abnormality. Further trials and studies that explore the intersection of mental health of EPL on patients should explore the efficacy of cfDNA testing as an adjunct to patient-centered care in these cases.

摘要

背景

心理、情绪和精神困扰影响着许多经历早期妊娠丢失(EPL)的患者。一个常见的担忧是患者的行为或选择导致了流产。了解 EPL 的原因可能会改善 EPL 患者及其伴侣的痛苦。导致 EPL 的染色体异常占很大比例。无细胞 DNA(cfDNA)检测是一种非侵入性测试,可提供有关胎儿染色体组成的高质量信息,它可以提供保证,即胎儿异常导致了流产,并在处理 EPL 时提供更多的确定性或结论。cfDNA 可能是 EPL 患者以患者为中心的护理的有用辅助手段。本评论探讨了 cfDNA 检测在减轻 EPL 常伴随的情绪困扰方面的可能性。

方法

探索了同行评审文献,以解决以下问题:(1)对经历 EPL 的患者进行 cfDNA 血清检测和检测妊娠产物以确定 EPL 原因的可能性;和/或(2)信息可能对 EPL 患者及其伴侣的心理发病率产生的影响。从提取的数据中生成的主题用于生成未来研究的关键问题。

结果

初步研究结果表明,胎儿分数值对 cfDNA 检测的成功至关重要,而成功的 cfDNA 检测体验对患者有积极影响。

结论

最终,我们得出结论,cfDNA 检测可以通过减少内疚感并为那些了解到损失与染色体异常相关的人提供结论,从而对患者护理产生积极影响,并改善经历 EPL 情绪困扰的患者的幸福感。进一步探索 EPL 患者心理健康的相互作用的试验和研究应该探索 cfDNA 检测作为这些情况下以患者为中心的护理的辅助手段的疗效。