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在低风险的非侵入性产前检测中,心室隔膜缺陷类型和染色体异常之间的相关性

Xiaomin Zhao¹, Yongmei Shen², Dexuan Kong³

¹Prenatal Diagnosis Center, Tianjin Central Hospital of Obstetrics and Gynecology, Tianjin, 300100, China.

Archives of gynecology and obstetrics

|June 26, 2024

概括

在低风险的非侵入性产前检测 (NIPT) 中,孤立的腹腔隔膜缺陷 (VSD) 不会增加染色体异常的风险. 然而,具有额外结构异常的VSD需要进一步进行基因测试,因为其具有更高的致病性拷贝数变异率.

科学领域:

产前诊断在产前诊断
胎儿心脏病学胎儿心脏病学
遗传学遗传学是一种遗传学.

背景情况:

心室隔膜缺陷 (VSD) 是一个常见的胎儿心脏异常.
非侵入性产前检测 (NIPT) 广泛用于查染色体异常.
在低风险的NIPT环境中,VSD类型与染色体异常之间的关联需要澄清.

研究的目的:

调查不同类型的VSD和胎儿染色体异常之间的相关性,具有低风险的NIPT结果.
评估被诊断患有各种VSD类型的胎儿的预后.
确定NIPT在识别与VSD相关的遗传风险方面的临床实用性.

主要方法:

追溯收集从接受胎儿VSD. amniocentesis的孕妇的数据.
排除标准包括高风险的NIPT,已知的遗传疾病,以及对随访的损失.
数据分析包括VSD分类,NIPT结果,副本数变异 (CNV) 分析和新生儿结局.

主要成果:

在74例VSD病例中发现了致病性CNV,与非孤立的VSD (29例) 相比,孤立的VSD (45例) 的发病率较低 (P=0.002).
在心内和心外异常的VSD之间没有观察到致病性CNV患病率的显著差异 (P=0.541).
与心内结构异常相关的VSD显示了最高的手术干预率.

结论:

在低风险NIPT怀孕中,孤立的VSD与胎儿染色体缺陷的可能性增加无关.
与VSD一起存在心内或心外结构异常,增加了致病性CNVs的风险,需要侵入性产前诊断.
孤立的肌肉VSD通常有良好的预后,可能不需要手术,有助于产前咨询.

关键词:

副本数量变化的变化侵袭性产前诊断侵袭性产前诊断非侵入性的产前检测.室腔隔膜缺陷室腔隔膜缺陷

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