We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us
PURITAN MEDICAL

Download Mobile App




Amniotic Fluid Cells RNA-Sequencing Demonstrates Diagnostic Potential in Deciphering Rare Diseases

By LabMedica International staff writers
Posted on 05 Jan 2023

Rare diseases are usually genetic in origin. More...

The identification of genetic cause 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, leading to clinical uncertainty and parental anxiety. Recently, RNA-sequencing has been found to increase diagnostic yield by 10% to 36%, however, none of these studies focused on prenatal diagnosis. Now, researchers have discovered that applying amniotic fluid cells obtained during 16-24 weeks of pregnancy as a novel sample type for RNA-sequencing in prenatal diagnosis could help more families with tailored clinical management. It is the first proof-of-concept study to demonstrate the potential clinical utility of amniotic fluid cells RNA-sequencing.

A research team at The University of Hong Kong (Pokfulam, Hong Kong) has demonstrated the potential clinical utility of amniotic fluid cells RNA-sequencing. A baseline for gene expression profile of amniotic fluid cells is established by performing RNA-sequencing on over 50 amniotic fluid samples. Establishment of gene expression profile is an essential step in applying RNA-sequencing to the current selected clinical diagnosis workflow. The researchers 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. The research team also compared RNA-sequencing data of four affected fetuses with structural congenital anomalies with the established baseline to detect potential outliers.

A bioinformatics pipeline was adapted to enhance the detection of outliers for subsequent analysis. 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 diagnosis. The findings of this study have significant implications in solving undiagnosed rare diseases. It is the first time that amniotic fluid cells 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.

Related Links:
The University of Hong Kong


Gold Member
Quantitative POC Immunoassay Analyzer
EASY READER+
3-Part Differential Hematology Analyzer
Swelab Alfa Plus Sampler
New
Hand-Held Immunofluorescence Analyzer
WS-Si1500
New
Autoimmune Disease Diagnostic
Chorus ds-DNA-G
Read the full article by registering today, it's FREE! It's Free!
Register now for FREE to LabMedica.com and get access to news and events that shape the world of Clinical Laboratory Medicine.
  • Free digital version edition of LabMedica International sent by email on regular basis
  • Free print version of LabMedica International magazine (available only outside USA and Canada).
  • Free and unlimited access to back issues of LabMedica International in digital format
  • Free LabMedica International Newsletter sent every week containing the latest news
  • Free breaking news sent via email
  • Free access to Events Calendar
  • Free access to LinkXpress new product services
  • REGISTRATION IS FREE AND EASY!
Click here to Register








DIASOURCE (A Biovendor Company)

Channels

Hematology

view channel
Image: CitoCBC is the world first cartridge-based CBC to be granted CLIA Waived status by FDA (Photo courtesy of CytoChip)

Disposable Cartridge-Based Test Delivers Rapid and Accurate CBC Results

Complete Blood Count (CBC) is one of the most commonly ordered lab tests, crucial for diagnosing diseases, monitoring therapies, and conducting routine health screenings. However, more than 90% of physician... Read more

Immunology

view channel
Image: A simple blood test could replace surgical biopsies for early detecion of heart transplant rejection (Photo courtesy of Shutterstock)

Blood Test Detects Organ Rejection in Heart Transplant Patients

Following a heart transplant, patients are required to undergo surgical biopsies so that physicians can assess the possibility of organ rejection. Rejection happens when the recipient’s immune system identifies... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.