非报告的无细胞DNA产前查测试导致母体结肠直肠癌诊断
Maria Paula Diaz Soto1, Aaron Hakim1, Jessica A Zerillo1
1Department of Medicine, Division of Gastroenterology, Beth Israel Deaconess Medical Center, Boston, MA.
ACG case reports journal
|November 20, 2025
概括
用于产前查的非报告的无细胞DNA (cfDNA) 测试可以表明潜在的孕产妇恶性瘤. 在这种情况下,它导致怀孕患者的转移性结肠癌的诊断.
科学领域:
- 产科和妇科 产科和妇科
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 无细胞DNA (cfDNA) 测试是一种非侵入性的产前查方法,用于检测胎儿染色体异常.
- 很少情况下,cfDNA测试会产生不可报告的结果,原因是胎儿分数低或多重动脉,这可能表明母亲患有恶性瘤.
- 在怀孕期间诊断隐性恶性瘤存在重大挑战,淋巴瘤是最常见的恶性瘤.
研究的目的:
- 报告在怀孕患者的非报告cfDNA测试后发现的转移性结肠癌病例.
- 为了突出怀孕期间隐性恶性瘤的诊断挑战.
- 为了强调cfDNA测试的潜力,偶然检测出孕产妇癌症.
主要方法:
- 一名怀孕的患者呈现了不可报告的cfDNA测试结果.
- 患者随后出现症状,包括腹痛和直肠流血.
- 进行了包括成像和活检在内的诊断工作,以调查症状和cfDNA结果的影响.
主要成果:
- 病人被诊断出患有转移性结肠癌.
- 非报告的cfDNA结果作为进一步调查潜在的母亲恶性瘤的早期指标.
- 这个案例扩大了恶性瘤的范围,可以通过非报告的cfDNA结果超越淋巴瘤.
结论:
- 在产前查中非报告的cfDNA结果可以成为诊断出意想不到的母亲恶性瘤的关键线索.
- 转移性结肠癌虽然很少见,但在怀孕患者的差异诊断中应考虑非报告的cfDNA结果和有关症状.
- 跨学科的合作对于管理新确诊癌症的孕妇患者至关重要.
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