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继续发展为先天性心脏病的植入前人类体外受精胚胎早期发育的差异。

Differences in the Early Development of Preimplantation Human IVF Embryos Which Go on to Develop Congenital Heart Disease.

作者信息

Markham Sophie, Campbell Alison, Montgomery Sue, Dykes Iain M

机构信息

Department of Pharmacy and Biomolecular Sciences, Liverpool John Moores University, Byrom St., Liverpool L3 3AF, UK.

Care Fertility Manchester, 108-112 Daisy Bank Road, Victoria Park, Manchester M14 5QH, UK.

出版信息

J Cardiovasc Dev Dis. 2025 Sep 19;12(9):370. doi: 10.3390/jcdd12090370.

DOI:10.3390/jcdd12090370
PMID:41002649
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12471073/
Abstract

There is a clinical need for improved antenatal diagnosis of congenital heart disease (CHD). Increasing numbers of children are born to parents undergoing fertility treatment. We asked whether time-lapse imaging of preimplantation development provides diagnostic information. We performed a retrospective multicentre analysis of morphokinetic data from patients undergoing fertility treatment. A total of 96/18,799 CHD cases were identified (rate: 0.51%). Thirty-two were included in the analysis and stratified into three cohorts: complex CHD (n = 7), mild CHD (n = 11) and murmur only (n = 14). Comparison to a large unmatched control group (n = 352) revealed no differences in time of preimplantation developmental events but suggested an increase in cleavage synchronicity during the third cell cycle of mild CHD embryos. Pairwise comparison to matched controls revealed a delay in mild CHD embryos relative to controls in reaching the morphokinetic timepoints fading of pronuclei, 2-cell stage and 4-cell stage together with a possible increase in duration of blastulation in complex CHD. Our data raises the possibility that screening of preimplantation embryos at fertility clinics could reduce the rate of CHD. However, these results are preliminary, and further work is required to confirm the findings in a larger study.

摘要

临床上对改善先天性心脏病(CHD)的产前诊断有需求。接受生育治疗的父母所生育的儿童数量在增加。我们询问植入前发育的延时成像是否能提供诊断信息。我们对接受生育治疗患者的形态动力学数据进行了回顾性多中心分析。共识别出96/18799例CHD病例(发生率:0.51%)。32例被纳入分析并分为三个队列:复杂CHD(n = 7)、轻度CHD(n = 11)和仅伴有杂音(n = 14)。与一个未匹配的大对照组(n = 352)比较发现,植入前发育事件的时间没有差异,但提示轻度CHD胚胎在第三个细胞周期期间卵裂同步性增加。与匹配对照组进行两两比较发现,轻度CHD胚胎相对于对照组在达到原核消失、2细胞期和4细胞期等形态动力学时间点存在延迟,复杂CHD中囊胚形成期的持续时间可能增加。我们的数据提出了在生育诊所对植入前胚胎进行筛查可能降低CHD发生率的可能性。然而,这些结果是初步的,需要进一步开展工作以在更大规模研究中证实这些发现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/194b/12471073/298a1dcb57d7/jcdd-12-00370-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/194b/12471073/ada078ea9d4e/jcdd-12-00370-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/194b/12471073/9aaacfb4ed53/jcdd-12-00370-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/194b/12471073/bc084ba14e5a/jcdd-12-00370-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/194b/12471073/298a1dcb57d7/jcdd-12-00370-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/194b/12471073/ada078ea9d4e/jcdd-12-00370-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/194b/12471073/9aaacfb4ed53/jcdd-12-00370-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/194b/12471073/bc084ba14e5a/jcdd-12-00370-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/194b/12471073/298a1dcb57d7/jcdd-12-00370-g004.jpg

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本文引用的文献

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Haplotyping-based preimplantation genetic testing for inherited cardiovascular disease: a multidisciplinary approach.基于单倍型分析的遗传性心血管疾病植入前基因检测:一种多学科方法。
Mol Genet Genomics. 2024 Dec 30;300(1):11. doi: 10.1007/s00438-024-02208-4.
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The first two blastomeres contribute unequally to the human embryo.
最初的两个卵裂球对人类胚胎的贡献是不均等的。
Cell. 2024 May 23;187(11):2838-2854.e17. doi: 10.1016/j.cell.2024.04.029. Epub 2024 May 13.
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Front Cell Dev Biol. 2024 Mar 15;12:1358971. doi: 10.3389/fcell.2024.1358971. eCollection 2024.
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Assisted Reproductive Techniques and Risk of Congenital Heart Diseases in Children: a Systematic Review and Meta-analysis.辅助生殖技术与儿童先天性心脏病风险:系统评价和荟萃分析。
Reprod Sci. 2023 Oct;30(10):2896-2906. doi: 10.1007/s43032-023-01252-6. Epub 2023 May 5.
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Preimplantation genetic testing for aneuploidy: challenges in clinical practice.胚胎植入前遗传学检测非整倍体:临床实践中的挑战。
Hum Genomics. 2022 Dec 20;16(1):69. doi: 10.1186/s40246-022-00442-8.
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Morphological and morphokinetic associations with aneuploidy: a systematic review and meta-analysis.与非整倍体相关的形态学和形态动力学关联:一项系统综述和荟萃分析。
Hum Reprod Update. 2022 Aug 25;28(5):656-686. doi: 10.1093/humupd/dmac022.
8
The Impact of Culture Medium on Morphokinetics of Cleavage Stage Embryos: An Observational Study.培养液对卵裂期胚胎形态动力学的影响:一项观察性研究。
Reprod Sci. 2022 Aug;29(8):2179-2189. doi: 10.1007/s43032-022-00962-7. Epub 2022 May 9.
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Dissecting the Complexity of Early Heart Progenitor Cells.剖析早期心脏祖细胞的复杂性。
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