缺失或低可塑性鼻骨:应该告诉未来的父母什么?
Shreya Das1, Charu Sharma1, Taruna Yadav2
1Department of Obstetrics & Gynecology, All India Institute of Medical Sciences, Jodhpur, India.
Birth defects research
|May 27, 2024
概括
在胎儿中缺席或低可塑性鼻骨 (AHNB) 可能并不总是表明唐氏综合征. 在印度妇女中隔离的AHNB需要进行详细的异常扫描,而不是立即进行侵入性测试,但如果存在其他异常,则需要进一步测试.
科学领域:
- 产前诊断 在产前诊断.
- 胎儿医学 胎儿医学
- 遗传学 是一个遗传学.
背景情况:
- 缺席或低可塑性鼻骨 (AHNB) 是唐氏综合征的关键超声波标志物.
- 关于对孤立的AHNB进行侵入性检测存在困境,因为欧体和无体胎儿的发病率各不相同.
- 这项研究重点关注印度族裔女性的AHNB结果.
研究的目的:
- 评估印度妇女胎儿缺席或低可塑性鼻骨 (AHNB) 的结果.
- 评估对孤立的AHNB进行侵入性胎儿检测的必要性.
- 为在怀孕期间检测到的AHNB管理提供基于证据的建议.
主要方法:
- 预期的观察性研究包括4051第一次或第二个三个月的超声波扫描.
- 患有AHNB的患者接受了遗传咨询,并提供了非侵入性和侵入性测试.
- 记录了染色体异常,并对怀孕进行了监测.
主要成果:
- AHNB发生率为1.16% (47/4051);孤立的AHNB发生在32例 (0.78%).
- 在12.7% (6/47) 的AHNB胎儿中发现了无质性;唐氏综合征的患病率为8.5% (4/47).
- 在有和没有AHNB的胎儿之间观察到唐氏综合征患病率的统计学上显著差异 (p=0.001).
结论:
- 印度妇女中孤立的AHNB病例应通过全面的异常扫描来管理,而不是立即进行侵入性测试.
- 当AHNB伴随着其他软标记或结构异常时,建议进行侵入性测试.
- 染色体微阵列优先于标准型,用于检测染色体异常,因为其灵敏度更高.
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