增加后半透明度厚度和正常的染色体微阵列:丹麦全国性队列研究
K Gadsbøll1, N Brix2,3, P Sandager4,5,6
1Center for Fetal Medicine, Pregnancy and Ultrasound, Department of Gynecology, Fertility and Obstetrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
概括
增加胎儿部透光度 (NT) 厚度与染色体异常有关. 虽然染色体微阵列 (CMA) 改善了检测,但正常的CMA结果不会显著改变NT增加的怀孕中未受影响的活产率.
科学领域:
- 产前诊断 在产前诊断
- 遗传学 遗传学 是一个
- 产科 产科 产科 产科 产科
背景情况:
- 增加胎儿部透光度 (NT) 厚度是染色体异常的标志物.
- 染色体微阵列 (CMA) 为检测遗传异常提供了比传统的型定型更高的分辨率.
研究的目的:
- 为了比较正常染色体微阵列 (CMA) 增加NT的妊娠结果与常规胆型定型.
- 评估CMA在增加NT的怀孕中的诊断产量和预后价值.
主要方法:
- 全国丹麦基于登记册的单独怀孕队列研究 (2008-2018).
- 根据NT厚度进行分层,并比较CMA和传统型化之间的结果.
- 分析包括染色体异常,终止,妊娠损失,发育不良和未受影响的活产.
主要成果:
- 染色体异常的患病率随着NT厚度的增加而增加 (从3.5-4.4mm的21%到≥6.5mm的69%).
- 在增加NT和正常CMA的怀孕中,不受影响的活产率随着增加NT显著下降 (87%至29%).
- 通常的CMA结果并没有显著改善预后,与增加NT的正常常规胆型定型相比.
结论:
- 证实了增加NT和染色体异常之间的关联.
- 尽管CMA改善了诊断分辨率,但正常结果并没有显著改变未受影响的活产儿的患病率.
- 强调需要在产前护理方面进行持续的研究和准确的临床指导.
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