相关实验视频

Updated: Jul 11, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

一个新的随机查策略增加了三症21的检测率在怀孕的第一季度

Wei Luo^1,2,3, Bin He^1,2,3, Daiwen Han^1,2,3

¹Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, China.

BMC pregnancy and childbirth

|November 14, 2023

概括

这项研究通过调整低风险怀孕的血清标志物切断值来完善21型三症的产前查. 改进的随机查策略提高了唐氏综合征的检测率.

科学领域:

孕产妇和胎儿的医学
产前诊断在产前诊断
遗传学是一个遗传学.

背景情况:

对于21型三症的传统随机查有局限性,缺少一些低风险病例.
优化查协议对于提高唐氏综合征产前检测率至关重要.

研究的目的:

在低风险怀孕中确定血清生物化学标记物的新切断值.
开发一个增强的顺序性产前检测策略,以检测21型三症.

主要方法:

追溯分析9年的单胎怀孕数据,经过第一季度查.
调整中位数 (MoM) 的自由β-hCG和PAPP-A倍数的截止值.
实施非侵入性产前查 (NIPS) 针对特定的低风险病例,并调整标记值.

主要成果:

确定自由β-hCG (≥2.75 MoM) 和PAPP-A (≤0.5 MoM) 的特定切断值,分别在7.72%和12.36%的病例中发现异常结果.
这种策略检测到55.56%和85.71%的之前虚假阴性三发症21病例.
整体检测率的三形21是提高了10.64%和12.77%.

结论:

修订后的随机查策略显著增加了三发性病21的检测率.
这种方法为在怀孕早期识别唐氏综合征提供了更有效的方法.

关键词:

潜在的查策略潜在的查战略第一个三个月的查.非侵入性的产前查.产前诊断在产前诊断.血清生物化学查血清生物化学查三胞胎 21 的三胞胎 21 .

更多相关视频

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

相关概念视频

Karyotyping

Karyotyping

Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...

Meiosis I

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...