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

Download Mobile App




Noninvasive Prenatal Test Developed for Sickle Cell Disease Risk

By LabMedica International staff writers
Posted on 01 Aug 2019
Sickle cell disease (SCD) is an autosomal recessive disease, meaning that a child has to inherit two mutated copies of the hemoglobin gene to develop it, one from each parent. More...
If both parents have sickle cell trait, there is a 25% chance the child will have SCD.

Without early diagnosis and treatment, the life expectancy of children with SCD is only a few years. Currently, sickle cell can only be diagnosed during pregnancy using an invasive test like amniocentesis that carries a risk, although small, of miscarriage, leading some parents to decline it. An earlier survey showed that if patients had the option of a non-invasive test, more would choose screening for the possibility of SCD.

A team of scientists working with the Guy's and St. Thomas' NHS Foundation Trust (London, UK) analyzed blood samples from 24 pregnant carrying a mutated copy of the hemoglobin gene, and as such were sickle cell carriers. The scientists optimized their method to enrich the samples for the fetal DNA, and used a molecular barcode to identify the mutant and normal gene. They use targeted next-generation sequencing of cell-free DNA from maternal plasma to diagnose fetal sickle cell disease based on a relative mutation dosage approach. No paternal or proband samples were required. Unique molecular identifiers (UMIs) were incorporated into library preparation to enable accurate quantification of mutant and wildtype allele reads.

When the 24 plasma samples from pregnant sickle cell disease carriers were analyzed, 20 were concordant with the established genotype; two with low fetal fraction were inconclusive and two were discordant. In silico size selection of cell free DNA (cfDNA) fragments was found to enhance the fetal fraction for all samples, and modifications to UMI capture improved diagnostic accuracy. Samples from as early as eight weeks gestation were successfully genotyped.

The authors concluded that they had demonstrated that non-invasive prenatal diagnosis for sickle cell disease is approaching clinical utility. Other autosomal recessive disorders may benefit from a similar approach. Julia van Campen, PhD, a geneticist and the first author of the study, said, “Although cell-free fetal DNA testing is already available for some disorders, technical difficulties have hampered the development of such a test for SCD, despite it being one of the most commonly requested prenatal tests in the UK.” The study was presented at the 2019 European Human Genetics Conference held June 15-18, 2019, in Stockholm, Sweden.

Related Links:
Guy's and St. Thomas' NHS Foundation Trust


New
Gold Member
Hematology Analyzer
Medonic M32B
POC Helicobacter Pylori Test Kit
Hepy Urease Test
New
Sample Transportation System
Tempus1800 Necto
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








Channels

Hematology

view channel
Image: Platelets sequester cfDNA during circulation (Murphy L. et al., Science, 2025; DOI: 10.1126/science.adp3971)

Platelets Could Improve Early and Minimally Invasive Detection of Cancer

Platelets are widely recognized for their role in blood clotting and scab formation, but they also play a crucial role in immune defense by detecting pathogens and recruiting immune cells.... Read more

Immunology

view channel
Image: The test could streamline clinical decision-making by identifying ideal candidates for immunotherapy upfront (Xiao, Y. et al. Cancer Biology & Medicine July 2025, 20250038)

Blood Test Predicts Immunotherapy Efficacy in Triple-Negative Breast Cancer

Triple-negative breast cancer (TNBC) is an aggressive subtype lacking targeted therapies, making immunotherapy a promising yet unpredictable option. Current biomarkers such as PD-L1 expression or tumor... Read more

Microbiology

view channel
Image: New diagnostics could predict a woman’s risk of a common sexually transmitted infection (Photo courtesy of 123RF)

New Markers Could Predict Risk of Severe Chlamydia Infection

Chlamydia trachomatis is a common sexually transmitted infection that can cause pelvic inflammatory disease, infertility, and other reproductive complications when it spreads to the upper genital tract.... Read more

Pathology

view channel
image: Researchers Marco Gustav (right) and MD Nic G. Reitsam (left) discuss the study data (Photo courtesy of Anja Stübner/EKFZ)

AI Model Simultaneously Detects Multiple Genetic Colorectal Cancer Markers in Tissue Samples

Colorectal cancer is a complex disease influenced by multiple genetic alterations. Traditionally, studies and diagnostic tools have focused on predicting only one mutation at a time, overlooking the interplay... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.