在产前非侵入性无细胞DNA查后,性别预测和胎儿性别之间的差异
Selma F Witchel1, Aleksandar Rajkovic2,3,4, Svetlana A Yatsenko5
1Division of Pediatric Endocrinology, Department of Pediatrics, UPMC Children's Hospital, University of Pittsburgh, Pittsburgh, PA 15224, USA.
Journal of the Endocrine Society
|January 30, 2025
概括
非侵入性产前无细胞DNA (cfDNA) 查准确预测胎儿的性别,但可能产生不一致的结果,促使评估性别发育 (DSD) 的差异. 本综述涉及cfDNA的局限性和DSD诊断的挑战.
科学领域:
- 遗传学 遗传学 是一个
- 产前诊断 在产前诊断
- 分子生物学分子生物学
背景情况:
- 非侵入性产前无细胞DNA (cfDNA) 测试已经彻底改变了产前诊断,比生物化学查提供了更高的性能.
- 目前的指导方针建议对常见的三症和性染色体形状症进行cfDNA查.
研究的目的:
- 审查cfDNA技术用于胎儿性别预测的原则和局限性.
- 总结关于性染色体异常和性别发育差异 (DSD) 的cfDNA测试性能的发现.
- 确定结果不一致的原因,并为临床管理和伦理考虑提供建议.
主要方法:
- 关于cfDNA测试,性别染色体异常和DSD的现有文献的小审查.
- 分析导致cfDNA结果不一致的技术和生物因素.
- 对多学科管理和道德讨论的综合建议.
主要成果:
- cfDNA查准确地预测胎儿的性别,但与超声波或出生结果相比,可能导致结果不一致.
- 不一致的结果引发了对异性发育的担忧,需要对DSD进行进一步评估.
- 了解差异的原因对于准确的诊断和管理至关重要.
结论:
- cfDNA查提供了宝贵的胎儿性别信息,但有局限性,特别是在DSD的情况下.
- 产前和临床团队之间的多学科合作对于管理复杂病例至关重要.
- 围绕胎儿性别预测和产前DSD诊断的伦理考虑需要仔细关注.
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