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光在现场杂交的实用性作为胎儿手术适用性标准,用于孤立的先天性异常,当进行非侵入性查时

Ethan Lorence^1,2,3, Katelyn Seither^4,5,6, Hua He¹

¹Department of Pediatrics, Division of Human Genetics of the College of Medicine at the University of Cincinnati, Cincinnati, Ohio, USA.

Prenatal diagnosis

|January 14, 2026

概括

当非侵入性查呈阴性结果时,光在位杂交 (FISH) 基因测试并没有为胎儿手术候选人提供额外的见解. 侵入性测试带来了风险,但没有改善潜在的胎儿手术候选人的风险效益分析.

科学领域:

孕产妇和胎儿医学孕产妇和胎儿医学
产前遗传学产前遗传学
手术创新在外科创新.

背景情况:

胎儿手术需要严格的患者选择.
目前的标准往往要求进行正常染色体分析或FISH用于形积分症.
越来越多地使用非侵入性查方法.

研究的目的:

评估FISH和非侵入性查之间的一致性.
为了确定侵入性基因测试是否为胎儿手术候选人增加了价值.
评估基因测试对风险效益分析的影响.

主要方法:

对963个怀孕的回顾性图表审查.
对遗传检测结果,胎儿成像和手术候选人的分析.
评估期:2018年7月至2023年7月.

主要成果:

在低风险怀孕中,FISH与查100%一致.
多重先天性异常与更高的异常遗传检测率相关 (52%对17%).
侵入性检测没有为手术候选提供额外的信息.

结论:

鱼类测试没有提高胎儿手术的风险效益分析.
在这种情况下,侵入性基因测试带来风险,但没有明显的好处.
在某些特定情况下,非侵入性方法可能足以评估胎儿手术候选人.

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相关概念视频

FISH - Fluorescent In-situ Hybridization

FISH - Fluorescent In-situ Hybridization

Fluorescence in situ hybridization, or FISH, was developed in the early 1980s and has quickly become one of the most widely used techniques in cytogenetics. Labeled probes are used to bind complementary DNA or RNA sequences on a chromosome or in a region within a cell. Earlier, the probes could only be obtained by cloning or reverse transcription of a DNA template. Currently, the probe oligonucleotides can be synthesized synthetically. Additionally, with the advancement of optical techniques,...