常规的无细胞DNA产前查可以识别患有囊性纤维化高风险的怀孕,这些怀孕可能受益于胎儿治疗
J Wynn1, S Rego1, D Chandler-Brown1
1BillionToOne Inc., Menlo Park, CA, USA.
概括
使用无细胞DNA准确查胎儿囊性纤维化 (CF) 的非侵入性产前检测在头三个月. 这种方法提供了早期的,个性化的风险评估,不需要合作伙伴样本,指导及时干预.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 产前诊断 在产前诊断
背景情况:
- 无细胞DNA (cfDNA) 技术的进步使得胎儿单基因自体衰退条件的非侵入性产前检测 (NIPT) 成为可能.
- 现在,NIPT可以在怀孕第一季度从母亲的血液中查胎儿囊性纤维化 (CF) 风险.
- 这种方法消除了对伴侣样本的需求,与传统的载体查不同.
研究的目的:
- 评估基于cfDNA的NIPT在一般风险孕妇群体中用于胎儿CF查的性能.
- 评估cfDNA测试的准确性和效率,以识别患CF高风险的胎儿.
- 确定cfDNA测试的周转时间及其对早期干预的影响.
主要方法:
- 100,106名一般风险孕妇接受CF携带者查的回顾性审查.
- 在阳性CF载体上进行的无细胞DNA测试,将≥1/4风险的怀孕归类为高风险.
- 从高风险病例中征集确认性测试结果;从低风险病例的随机样本中计算的绩效分析.
主要成果:
- 该研究包括2587名CF携带者和20例具有高风险cfDNA结果的病例;13名胎儿被证实受到影响.
- 该cfDNA测定显示了100%的灵敏度,正确地确定所有已知的受影响胎儿都是高风险的.
- 75%的cfDNA胎儿风险结果可在妊娠18.5周之前获得,允许及时进行诊断测试和潜在的子宫内治疗.
结论:
- 使用反射cfDNA分析进行载体查,可提供个性化的胎儿CF风险评估,并提供高效的周转时间.
- 这种方法可以进行早期妊娠年龄查,而不需要对一般风险人群进行伴侣样本.
- 查方法精确指导CF受影响胎儿的产前诊断测试,可能从子宫内治疗中受益.
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