16p11.2微删除/微复制的胎儿的产前表型和妊娠结果
Fagui Yue1,2, Mengzhe Hao1,2, Dandan Jiang1,2
1Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, 130021, China.
BMC pregnancy and childbirth
|July 22, 2024
概括
16p11.2副本数变异 (CNVs) 的产前诊断显示出不同的胎儿表型. 虽然缺失显示出各种异常,但重复通常存在没有明确的超声波标记,需要长期的婴儿随访.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 产前诊断 在产前诊断
- 基因组疾病 基因组疾病
背景情况:
- 染色体16p11.2的删除和重复是与神经发育,肥胖和先天性问题相关的基因组疾病.
- 16p11.2副本数变异 (CNVs) 的产前表型仍然不够表征.
- 这项研究的重点是详细描述这些基因组疾病的子宫内表型特征.
研究的目的:
- 总结与16p11.2删除和重复相关的产前表型特征.
- 描述16p11.2 CNVs. 的子宫内表现.
- 为了提高对16p11.2相关条件的产前诊断的理解.
主要方法:
- 对20个产前羊水样本进行分析,其中16p11.2微切除/微复制.
- 并行型化和染色体微阵列分析 (CMA).
- 对怀孕结果,新生儿健康和公布病例的综合分析的跟踪.
主要成果:
- 20个胎儿 (0.10%) 发现了16p11.2 CNV: 5个BP2-BP3删除,10个BP4-BP5删除,5个BP4-BP5重复.
- 十个缺失的胎儿显示了异常的超声检测结果;在重复病例中没有观察到.
- 终止了11个删除怀孕;四个重复病例导致健康的新生儿.
结论:
- 16p11.2 存在各种产前表型的CNV,从正常到异常.
- 16p11.2 BP4-BP5删除通常显示脊椎/肋骨异常和部透光.
- 16p11.2 BP2-BP3删除可能与生长限制和单动脉有关;重复缺少特定标记.
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