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Updated: Jan 10, 2026

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Published on: August 17, 2022

通过产前单核酸多态基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因

P Benn¹, K Hashimoto², V Souter²

¹University of Connecticut Health Center, Farmington, CT, USA.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

|November 27, 2025

概括

基于单核酸多态性 (SNP) 的无细胞DNA (cfDNA) 查有效地识别了与共存胎儿 (CHMCF) 共同存在的完整的水性形分子. 这种方法有助于区分CHMCF和triploidy,这对于管理不良妊娠结果至关重要.

科学领域:

遗传学是一个遗传学.
孕产妇和胎儿医学孕产妇和胎儿医学
分子诊断学分子诊断

背景情况:

使用基于单核酸多态 (SNP) 的无细胞DNA (cfDNA) 分析进行产前查,可以在全基因组范围内检测出父单亲异构 (GW-UPDpat).
这种查方法有潜力识别复杂的疾病,如与共存胎儿 (CHMCF) 存在的完全水性形,胎盘介质细胞失生症 (PMD) 和马赛克/化学GW-UPDpat综合征.
准确识别和区分这些情况对于适当的怀孕管理和风险评估至关重要.

研究的目的:

以SNP为基础的cfDNA查测试后期审查实验室数据和怀孕结果.
评估基于SNP的cfDNA查在识别GW-UPDpat方面的实用性,特别关注与CHMCF和正常细胞系相容的病例.
评估基于SNP的cfDNA查能够区分CHMCF与三倍性病的能力.

主要方法:

从2014年6月到2023年11月,对89个cfDNA查结果的回顾性分析,最初报告为双胞胎或三重症与明显的GW-UPDpat.
利用二维SNP图表量化和胎儿cfDNA部分,帮助识别和描述GW-UPDpat.
审查了77个病例的转诊,超声波,实验室检测和怀孕结果数据,排除了12个被重新归类为三重症的病例.

主要成果:

在77例明显GW-UPDpat病例中,有24例有可用的随访数据,其中21例 (87.5%) 的发现与CHMCF一致.
胎儿cfDNA分数经常很低 (28例≤2%),而摩拉cfDNA分数在10-58%之间.
所有确定的病例都表现出异构体,没有明确的异构体或Y染色体在GW-UPDpat系中存在的证据.

结论:

基于SNP的cfDNA查证明了在识别CHMCF和区分它与三倍性病的有用性.
早期检测CHMCF对于评估不良后果和妊娠 trofhoblastic瘤的风险至关重要.
这项研究表明,一些积极的cfDNA查结果可能代表未被识别的PMD或马赛克/化学GW-UPDpat综合征,尽管灵敏度和预测值需要进一步评估.

关键词:

这是一个SNP图表.在cfDNA查中完整的水性形与同时存在的胎儿.基因组印记障碍基因组印记障碍非侵入性的产前检测.产前检测产前检测只有一个父母的异构.

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