在首次出现的典型口腔口腔裂中,使用型和染色体微阵列分析进行产前遗传发现
Xiaoqing Wu1,2,3,4, Xiaorui Xie1,2, Jinzhou Lu3
1Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China.
Molecular biology reports
|August 5, 2025
概括
大多数首次出现的口腔口腔裂 (OFCs) 是孤立的,染色体异常风险较低. 基因检测,特别是SNP阵列,对于综合征性OFCs至关重要,有助于妊娠管理和改善诊断.
科学领域:
- 医学遗传学 医学遗传学
- 产前诊断 在产前诊断
- 遗传异常是一种先天性异常.
背景情况:
- 耳面裂 (OFC) 是一种常见的先天性异常,会影响嘴唇和天.
- 产前遗传评估对于管理OFC怀孕至关重要.
研究的目的:
- 评估第一次发生的胎儿OFCs的遗传发现.
- 评估与OFCs相关的怀孕结果.
- 为了比较传统的型和SNP阵列分析用于OFC诊断.
主要方法:
- 对205个第一次出现OFC的怀孕的回顾性审查.
- 将OFC分类为综合征或非综合征.
- 应用传统的型和SNP阵列分析.
- 对怀孕结果和随访数据的分析.
主要成果:
- 在所有OFC的11.7%中发现了染色体异常,仅在综合征病例中 (46.2%).
- SNP阵列确定了额外的临床意义上的CNV,提高了诊断产量.
- 综合征性OFC的终止率 (90.2%) 比非综合征性病例 (25.5%) 高得多.
- 在随后的怀孕中没有观察到复发的OFC.
结论:
- 首次出现的OFC主要是与低染色体风险隔离的.
- 遗传评估,特别是在综合征性OFC中,是非常有价值的.
- 结合型和SNP阵列可以提高OFC的诊断准确性和指导管理.
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