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Fetal Congenital Heart Disease Caused by Compound Heterozygous Mutations in the DNAH9 Gene: A Case Report - PubMed
Source: pubmed.ncbi.nlm.nih.gov
Article summary:
1. This case report describes a Chinese CHD patient with rare compound heterozygous mutations in the DNAH9 gene.
2. Ultrasound scans of the fetus showed abnormal heart development, a single ventricle, pulmonary artery stenosis and situs inversus.
3. Copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) were used to identify an 81 kb deletion at chr17p12 (11,486,795-11,568,385), including exons 1-15 of DNAH9 gene, and a nonsense mutation (c.10975C>T) in DNAH9 respectively.
Article analysis:
This article is generally reliable and trustworthy as it provides detailed information about the case study of a Chinese CHD patient with rare compound heterozygous mutations in the DNAH9 gene. The authors provide evidence for their claims by using copy number variation sequencing (CNV-seq) and whole exome sequencing (WES). Furthermore, they also provide 3D mutant protein structures which show structural changes from functional β-sheet and α-helix to termination due to the mutations.
However, there are some potential biases that should be noted. Firstly, the article does not explore any counterarguments or present both sides equally when discussing the pathogenesis of CHD. Secondly, there is no mention of possible risks associated with prenatal diagnosis of CHD or any other potential treatments for this condition. Lastly, there is no discussion on how this diagnostic process can be applied more broadly to other cases of fetal CHD or how it could be improved upon in future studies.