相关实验视频
Updated: Aug 2, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
36.7K
从产前无细胞DNA查预测孕前症风险预测
Mohamed Adil1,2,3, Teodora R Kolarova4, Anna-Lisa Doebley1,5
1Divisions of Public Health Sciences and Human Biology, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Nature medicine
|February 12, 2025
概括
现在可以使用产前无细胞DNA (cfDNA) 查来预测早产子. 从全基因组测序数据中对cfDNA核的可访问性进行分析,可以在发病数月前确定胎盘功能障碍.
科学领域:
- 基因组学就是基因组学.
- 产科 产科 产科 产科 产科
- 生物化学 生化学
背景情况:
- 孕前症由于胎盘功能障碍,对母亲和胎儿构成重大风险.
- 预产前的早期预测仍然是一个临床挑战,阻碍了及时干预.
研究的目的:
- 调查使用全基因组测序 (WGS) 数据进行产前无细胞DNA (cfDNA) 查的实用性,以预测早期孕前风险.
- 开发一种基于cfDNA核细胞体可访问性签名的预测孕前风险模型.
主要方法:
- 利用了1854个临床产前DNA查 (PDNAS) 样本,其中WGS数据覆盖率低 (中位数为12.1周妊娠期).
- 开发了一个框架来量化来自cfDNA核细胞体可访问性的孕产妇和胎儿组织特征.
- 在独立队列 (831和141个样本) 中验证了孕前风险预测模型.
主要成果:
- 该cfDNA分析揭示了早期的胎盘和内皮功能障碍.
- 该预测模型在验证中获得了0.85的AUC (81%的灵敏度在80%的特异性) 对于早产前.
- 外部验证证实了强的性能 (AUC 0.84,79%的灵敏度).
结论:
- 从怀孕早期评估cfDNA核细胞可访问性的WGS数据可以检测出胎盘和内皮异常.
- 这种方法有望帮助早期确定子宫前风险,可能在临床表现前几个月.
更多相关视频
09:30Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
3.0K
05:31Author Spotlight: Modeling an Aspect of Preeclampsia in Female Mice Using Hypoxic Human Placenta-Derived Small Extracellular Vesicles
Published on: January 26, 2024
745
相关概念视频
02:57Meiosis vs. Mitosis
Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
01:28Development of the Oral Microbiota
The establishment of the oral microbiome begins before birth, challenging the long-held belief that the fetal oral cavity is sterile. The presence of oral microbes such as Streptococcus and Fusobacterium in amniotic fluid suggests that microbial exposure may occur in utero, potentially through translocation from the maternal oral or gastrointestinal tract. This early colonization primes the neonatal immune system and sets the stage for subsequent microbial succession. Maternal health,...