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
INTEGRA BIOSCIENCES AG

Download Mobile App




cfDNA Testing Accurately Detects Fetal Trisomies in Twin Pregnancies

By LabMedica International staff writers
Posted on 24 Jun 2019
Print article
Results presented in a recently published paper indicated that the performance of cfDNA (cell-free DNA) testing for trisomy 21 (Down syndrome) in twin pregnancy was similar to that reported in singleton pregnancy and was superior to that of the first‐trimester combined test or second‐trimester biochemical testing.

CfDNA testing, which involves analyzing fetal DNA in a maternal blood sample, is a non-invasiveness and highly accurate test for Down syndrome in singleton pregnancies, but its effectiveness in twin pregnancies has been unclear.

To clarify this situation, investigators at King's College Hospital (London, United Kingdom) determined a cfDNA result for 997 twin pregnancies with known birth outcome.

Targeted cfDNA testing for fetal trisomy was performed using the "Harmony" prenatal test. Harmony used Digital ANalysis of Selected Regions (DANSR) assays, which targeted sequences on chromosomes 13, 18 and 21 for chromosome quantitation and single‐nucleotide polymorphisms on chromosomes 1–12 for fetal‐fraction measurement. Products of the DANSR assays were quantified using either next‐generation sequencing or a custom microarray; both were used during the course of this study.

Results showed that the cfDNA test correctly classified 16 (94.1%) of the 17 cases of trisomy 21, nine (90.0%) of the 10 cases of trisomy 18, one (50.0%) of the two cases of trisomy 13 and 962 (99.4%) of the 968 cases without any of the three trisomies.

In addition to the fresh cfDNA test results, the investigators conducted a literature search that identified seven relevant studies, excluding their own previous papers because their data were included in the current study. Combining the populations of this study and the seven studies identified by the literature search, analysis revealed 56 trisomy‐21 and 3718 non‐trisomy‐21 twin pregnancies. The pooled weighted detection rate (DR) and false‐positive rate (FPR) were 98.2% and 0.05%, respectively.

The authors concluded that while cfDNA testing is not now recommended for use in twin pregnancies, these latest findings provide compelling evidence that mothers carrying twins should not be denied this safe and effective test.

The study was published in the June 4, 2019, online edition of the journal Ultrasound in Obstetrics & Gynecology.

Related Links:
King's College Hospital

New
Platinum Member
Flu SARS-CoV-2 Combo Test
OSOM® Flu SARS-CoV-2 Combo Test
Magnetic Bead Separation Modules
MAG and HEATMAG
Complement 3 (C3) Test
GPP-100 C3 Kit
Gold Member
TORCH Panel Rapid Test
Rapid TORCH Panel Test

Print article
77 ELEKTRONIKA

Channels

Clinical Chemistry

view channel
Image: PhD student and first author Tarek Eissa has analyzed thousands of molecular fingerprints (Photo courtesy of Thorsten Naeser / MPQ / Attoworld)

Screening Tool Detects Multiple Health Conditions from Single Blood Drop

Infrared spectroscopy, a method using infrared light to study the molecular composition of substances, has been a foundational tool in chemistry for decades, functioning similarly to a molecular fingerprinting... Read more

Molecular Diagnostics

view channel
Image: Protein ‘signatures’ obtained via a blood sample can be used to predict the onset of 67 diseases (Photo courtesy of Queen Mary University of London)

Protein Signatures in Blood Can Predict Risk of Developing More Than 60 Diseases

Measuring specific proteins to diagnose conditions like heart attacks, where troponin is tested, is a well-established clinical practice. Now, new research highlights the broader potential of protein measurements... Read more

Hematology

view channel
Image: The Truvian diagnostic platform combines clinical chemistry, immunoassay and hematology testing in a single run (Photo courtesy of Truvian Health)

Automated Benchtop System to Bring Blood Testing To Anyone, Anywhere

Almost all medical decisions are dependent upon laboratory test results, which are essential for disease prevention and the management of chronic illnesses. However, routine blood testing remains limited worldwide.... Read more

Microbiology

view channel
Image: The Simplexa C. auris direct kit is a real-time polymerase chain reaction assay run on the LIAISON MDX instrument (Photo courtesy of Diasorin)

Novel Molecular Test to Help Prevent and Control Multi Drug-Resistant Fungal Pathogen in Healthcare Settings

Candida auris (C. auris) is a rapidly emerging multi drug-resistant fungal pathogen that is commonly found in healthcare environments, where it presents a challenge due to its ability to asymptomatically... Read more

Pathology

view channel
Image: The tool can improve precision oncology by accurately predicting molecular subtypes and therapy responses (Photo courtesy of Shutterstock)

Computational Tool Integrates Transcriptomic Data for Improved Breast Cancer Diagnosis and Treatment

Breast cancer is the most commonly diagnosed cancer globally, presenting in various subtypes that require precise identification for effective, personalized treatment. Traditionally, cancer subtyping has... Read more

Industry

view channel
Image: Beckman Coulter will utilize the ALZpath pTau217 antibody to detect key biomarker for Alzheimer\'s disease on its DxI 9000 immunoassay analyzer (Photo courtesy of Beckman Coulter)

Beckman Coulter Licenses Alzpath's Proprietary P-tau 217 Antibody to Develop Alzheimer's Blood Test

Cognitive assessments have traditionally been the primary method for diagnosing Alzheimer’s disease, but this approach has its limitations as symptoms become apparent only after significant brain changes... Read more
Copyright © 2000-2024 Globetech Media. All rights reserved.