在产前染色体微阵列分析中未知意义的胎儿变异的产后结果:单中心研究
Lizhong Yin1, Jing Wang1, Bin Zhang1
1Department of Medical Genetics, Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center of Nanjing Medical University, Changzhou, China.
Fetal diagnosis and therapy
|October 20, 2024
概括
通过染色体微阵列分析 (CMA) 识别的未知意义的胎儿变异 (VOUS) 的产前遗传咨询显示了有利的结果. 在这些情况下,产后随访对于检测潜在的临床关联至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 产前诊断 在产前诊断
- 生殖医学 生殖医学
背景情况:
- 染色体微阵列分析 (CMA) 检测到微切除和微重复,有助于诊断遗传疾病.
- 未知意义的变异 (VOUS) 在产前环境中存在诊断挑战.
研究的目的:
- 评估胎儿与产前VOUS的临床管理和预后.
- 为了确定后续怀孕的最佳诊断方法,在VOUS识别后.
主要方法:
- 对2953名接受CMA的胎儿进行了回顾性研究,确定了162例VOUS病例.
- 进行了原始父母测试,产前遗传咨询和出生后3-36个月的随访.
主要成果:
- 在162例VOUS病例中,123例持续怀孕,5/123例活产婴儿发展出临床表型.
- 父母起源测试发现了18种遗传型和3种新型变异.
- 随后的怀孕经过遗传咨询和检测,显示出积极的结果.
结论:
- 在~5%的CMA病例中发现的VOUS,需要全面的遗传咨询.
- 虽然VOUS通常具有有利的结果,但产后随访对于早期检测临床表型至关重要.
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