明亮和扩大的胎儿脏:一个表型不同基因型,以及咨询困境
Preeti Paliwal1, Seema Thakur2, Shreyasi Sharma3
1Oncquest laboratories Limited, Gurugram, India.
Journal of clinical ultrasound : JCU
|September 5, 2024
概括
超声波上的非典型胎儿脏表现与ACE,ETFA,PKD1和MKS1基因的遗传变异有关. 整体外基因组测序有助于诊断这些复杂的产前疾病.
科学领域:
- 医学遗传学 医学遗传学
- 产前诊断 在产前诊断
- 胎儿成像 - 胎儿成像
背景情况:
- 不典型的胎儿脏表现,以扩大和明亮的回声性为特征,带来了诊断挑战.
- 这些发现可以与各种遗传病因相关联,需要先进的诊断方法.
研究的目的:
- 通过产前超声波检查发现的非典型胎儿脏发现的遗传基础.
- 为了将外体序列测序结果与观察到的胎儿表型相关联.
主要方法:
- 通过超声波诊断出胎儿脏膨胀的四例病例被选择用于研究.
- 在基因咨询和初步诊断后进行了全外体序列 (WES) 测序.
主要成果:
- 在研究的病例中,在ACE,ETFA,PKD1和MKS1基因中发现了遗传变异.
- 非典型的胎儿脏表型被观察到作为更广泛的综合征的一部分或作为一个孤立的发现.
结论:
- 在产前诊断中,全外体序列测序越来越重要,经常取代向基因序列测序.
- 准确的变体解释需要多学科的合作和意识到多个基因导致类似的表型.
- 在产前情况下及时诊断对于适当的干预和管理至关重要.
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