胎儿骨发育不良的顺序产前诊断:一个队列研究
Mengting Jiang1,2, Bin Zhang1, Jing Wang1
1Department of Medical Genetics, Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center of Nanjing Medical University, Changzhou, Jiangsu, China.
Acta obstetricia et gynecologica Scandinavica
|March 4, 2025
概括
使用染色体微阵列分析 (CMA),然后进行全外体序列测序 (WES),对骨发育不良 (SD) 的产前诊断显著提高了检测率. 这种顺序方法对于识别胎儿SD的遗传原因至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 产前诊断 在产前诊断
- 骨发育不良症 骨发育不良症
背景情况:
- 遗传因素是胎儿骨发育不良症 (SD) 的主要原因.
- 染色体微阵列分析 (CMA) 用于SD检测,但整个外基因组测序 (WES) 数据有限.
- 超声波指示的SD需要先进的分子遗传测试来准确诊断.
研究的目的:
- 在超声波指示SD的胎儿进行顺序产前诊断.
- 探索顺序CMA,其次是WES方法的临床实用性.
- 为了提高胎儿骨发育不良的诊断产量.
主要方法:
- 包括147名由产前超声波检测到的SD胎儿 (2019年1月至2024年5月).
- 序列测试:CMA首先进行,然后为负CMA结果的病例进行WES.
- 样本包括羊水或堕胎组织.
主要成果:
- 在15.6% (23/147) 的病例中,CMA检测到染色体异常.
- 在CMA阴性病例的WES中,在36.2%的病原/可能病原变体中确定了病原/可能病原变体 (21/58).
- 对于其他系统异常和特定SD表型的SD,检测率更高.
结论:
- 单基异常是骨发育不良的主要原因.
- 产前WES显著增加了SD胎儿的检测率.
- 序列CMA和WES是一种有价值的分子遗传测试策略,用于产前SD诊断.
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