Role of Amniotic Fluid in Understanding Rare Diseases

How is the amniotic fluid used to determine genetic disorders? RNA-sequencing of amniotic fluid cells helps in prenatal diagnosis and tailored management.

The discovery of applying amniotic fluid cells obtained during 16-24 weeks of pregnancy as a novel sample type for RNA-sequencing in prenatal diagnosis to help more families with tailored clinical management.

It is the first proof-of-concept study to demonstrate the potential clinical utility of amniotic fluid cell RNA-sequencing in the literature. The ground-breaking findings have been published in the journal Genomic Medicine.

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‘The genes present in amniotic fluid cells were comparable to other clinically accessible tissues commonly used for genetic diagnosis.’

Rare diseases are usually genetic in origin. Although individually rare, collectively rare diseases were found to be 1 in 67 in the Hong Kong population.

The identification of genetic causes in rare diseases can provide accurate counseling for better clinical management and future pregnancy planning, which is essential to support the patients.

Current technologies for prenatal diagnosis are largely DNA-based, with a large proportion (60-70%) remaining undiagnosed can lead to clinical uncertainty and parental anxiety.

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Recently, RNA sequencing has been found to increase diagnostic yield by 10% to 36%, however, none of these studies focused on prenatal diagnosis.

Despite the availability of a well-established large database cataloging the gene expression profile of different tissues for adults, a similar publicly-available dataset for amniotic fluid cells reflecting the embryological and fetal stage is lacking.

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Hence, further study and research on RNA sequencing in the prenatal setting are necessary. Keeping that fact in mind, researchers demonstrated the potential clinical utility of amniotic fluid cells RNA-sequencing.

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A baseline for the gene expression profile of amniotic fluid cells is established by performing RNA sequencing on over 50 amniotic fluid samples. The establishment of a gene expression profile is an essential step in applying RNA-sequencing to the current selected clinical diagnosis workflow.

They found that the number of well-expressed genes in amniotic fluid cells was comparable to other clinically accessible tissues commonly used for genetic diagnosis across different disease categories.

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Further in-depth curation showed that outliers can be identified in genes associated with the corresponding structural congenital anomalies in all four affected fetuses. Identifying the outliers provide more evidence at the RNA level to help with diagnosis.

The findings of this study have significant implications for solving undiagnosed rare diseases in Hong Kong. It is the first time that amniotic fluid cell RNA-sequencing is reported to provide potential clinical utility in prenatal diagnosis in literature.

With the identification of the genetic cause, precision medicine such as tailored clinical management and pre-implantation genetic diagnosis for families with family history is possible.

Source-Eurekalert