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通过染色体微阵列分析进行远端18p删除的产前检测:三个病例报告和文献综述

Tangfei Xu^1,2, Fagui Yue^1,2, Jing He^1,2

¹Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, China.

|July 26, 2024

概括

染色体18p缺失综合征的产前诊断存在各种症状的挑战. 染色体微阵列分析 (CMA) 有助于检测这些删除,指导遗传咨询和怀孕决策.

科学领域:

遗传学遗传学是一个
产前诊断在产前诊断
染色体异常染色体异常

背景情况:

染色体18p删除综合征,以认知障碍和生长问题为特征,通常在产后被诊断出来.
有限的研究重点是基因型-表型相关性和18p删除的产前表现.

研究的目的:

研究18p染色体缺失综合征的产前表型和诊断挑战.
评估染色体微阵列分析 (CMA) 在18p缺失的产前诊断中的有用性.

主要方法:

三个高风险怀孕病例接受了侵入性产前检测,包括心类型和CMA.
与18p删除相关的产前表型的文献审查同时进行.

主要成果:

在这三个案例中,CMA确定了18p删除的范围从4.37 Mb到14.97 Mb.
两个病例表现出异常的型,而一个病例的型尽管通过CMA检测到删除,但仍正常.
这三个怀孕都是在基于CMA发现的基因咨询后终止的.

结论:

产前诊断18p删除综合征是复杂的,因为不同的表型和不完整的透.
增加的鼻透光和全脑透光是距离18p缺失的潜在产前指标.
非侵袭性产前检测对胎儿具有非典型的超声波发现,暗示18p删除的宝宝有价值.

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