产前诊断胎儿的动脉肺的窗口和遗传异常
Chengmei He1, Jianchu Li1, Yulin Jiang2
1Department of Ultrasound, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
Journal of clinical ultrasound : JCU
|February 26, 2026
概括
这种罕见的胎儿病例突出显示了15q染色体异常与先天性心脏缺陷 - - 大动脉肺窗 (APW) 之间的联系. 结合心脏成像和基因组分析的综合产前评估对于诊断复杂疾病至关重要.
科学领域:
- 医学遗传学 医学遗传学
- 胎儿心脏病学 胎儿心脏病学
- 发展生物学 发展生物学
背景情况:
- 大动脉肺窗 (APW) 是一种罕见的先天性心脏缺陷.
- 严重的胎儿生长限制可能与染色体异常有关.
- 15q副本数变异越来越多地被认为有助于复杂的表型.
研究的目的:
- 报告一个罕见的胎儿APW病例,严重增长限制和复杂的15q染色体异常.
- 探索15q偏差和APW之间的潜在关系.
- 强调综合产前诊断的重要性.
主要方法:
- 妊娠28周的胎儿心声图. 妊娠28周的胎儿心声图.
- 基因组分析以确定副本数量的变异.
- 关于15q失衡和先天性心脏缺陷的现有文献的综述.
主要成果:
- 诊断APW和周膜室隔膜缺陷.
- 鉴定了两种病原性15q复制数变异,包括IGF1R基因.
- 这些发现与严重的胎儿生长限制有关.
结论:
- 15q异常和APW的同时出现表明了复杂的遗传心脏关系,需要进一步调查.
- 这种情况扩大了15q不平衡的已知表型谱.
- 综合产前评估,结合先进的心脏成像和基因组分析,对于复杂的先天性心脏病与生长障碍是必不可少的.
相关概念视频
Fetal Circulation
3.7K
Fetal circulation is a unique system that facilitates the exchange of gases, nutrients, and waste products between the developing fetus and the mother. This intricate process takes place through a special organ called the placenta.
Two umbilical arteries transport blood from the fetus to the placenta. At the placenta, the blood absorbs oxygen and nutrients while simultaneously eliminating waste products. This oxygen-enriched and nutrient-rich blood then returns to the fetus through one...
Two umbilical arteries transport blood from the fetus to the placenta. At the placenta, the blood absorbs oxygen and nutrients while simultaneously eliminating waste products. This oxygen-enriched and nutrient-rich blood then returns to the fetus through one...
3.7K
Teratogenicity
4.4K
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
4.4K
Aortic Regurgitation II: Clinical Features and Diagnostic Tests
680
Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...
680
Pulmonary Hypertension: Classification and Pathogenesis
721
Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
There are various classifications for PH, each relating to different underlying causes and also...
721


