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单核酸多态阵列 (SNP-阵列) 分析与异常的鼻骨胎儿

Xiaorui Xie¹, Linjuan Su¹, Ying Li¹

¹Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou, 350001, China.

Archives of gynecology and obstetrics

|July 10, 2023

概括

单核酸多态阵列 (SNP阵列) 测试揭示了缺席或低可塑性鼻骨的胎儿的显著染色体异常. SNP阵列增强了检测,特别是在具有额外标记或晚龄母亲的病例中.

科学领域:

产前诊断在产前诊断
遗传学遗传学是一个
医疗成像医学成像

背景情况:

鼻子骨评估是胎儿形瘤检查产前查的关键组成部分.
亚微观染色体异常可能无法通过常规型检测检测.

研究的目的:

为了确定亚微观染色体异常的患病率,使用单核酸多态阵列 (SNP阵列) 在怀孕中缺少或低可塑性鼻骨.
为了在这个群体中比较SNP阵列的诊断产量与传统的型.

主要方法:

通过产前超声波检查,对333名胎儿进行了回顾性分析,这些胎儿的鼻子骨缺失或低可塑性,并通过产前超声波检查确定.
在所有主题上,SNP阵列和常规型的性能.
将胎儿分为三组,基于单独的鼻骨发现,额外的软标记或结构缺陷.

主要成果:

总体而言,22.8%的胎儿患有染色体异常,包括三症21,三症18,性染色体形,以及副本数变异 (CNVs).
异常的患病率增加了更严重的鼻骨发现和其他超声波标记的存在 (8.5%的孤立病例,29.1%的软标记,43.3%的结构缺陷).
与 karyotyping 相比,SNP阵列检测到额外的致病性或可能致病性CNV,特别是在结构缺陷的病例和晚期孕产妇怀孕中.

结论:

胎儿鼻骨异常与除了唐氏综合征之外的广泛染色体异常有关.
通过SNP阵列测试,可以更好地检测带有鼻骨异常的胎儿的染色体异常,特别是在与其他超声检测结果相结合或在晚期孕妇怀孕时.

关键词:

副本数量的变化副本数量的变化型化 (Karyotyping) 是一种方法.鼻子骨缺失鼻子骨缺失鼻子骨缺失鼻骨的低成形鼻骨的低成形单核酸多态系数组是一个单核酸多态系数组.

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