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
Sign In
Advertise with Us
LGC Clinical Diagnostics

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

Platinum Member
COVID-19 Rapid Test
OSOM COVID-19 Antigen Rapid Test
One Step HbA1c Measuring System
GREENCARE A1c
Complement 3 (C3) Test
GPP-100 C3 Kit
New
Gold Member
Fully Automated Cell Density/Viability Analyzer
BioProfile FAST CDV

Print article

Channels

Clinical Chemistry

view channel
Image: Reaching speeds up to 6,000 RPM, this centrifuge forms the basis for a new type of inexpensive, POC biomedical test (Photo courtesy of Duke University)

POC Biomedical Test Spins Water Droplet Using Sound Waves for Cancer Detection

Exosomes, tiny cellular bioparticles carrying a specific set of proteins, lipids, and genetic materials, play a crucial role in cell communication and hold promise for non-invasive diagnostics.... Read more

Molecular Diagnostics

view channel
Image: MOF materials efficiently enrich cfDNA and cfRNA in blood through simple operational process (Photo courtesy of Science China Press)

Blood Circulating Nucleic Acid Enrichment Technique Enables Non-Invasive Liver Cancer Diagnosis

The ability to diagnose diseases early can significantly enhance the effectiveness of clinical treatments and improve survival rates. One promising approach for non-invasive early diagnosis is the use... Read more

Hematology

view channel
Image: The low-cost portable device rapidly identifies chemotherapy patients at risk of sepsis (Photo courtesy of 52North Health)

POC Finger-Prick Blood Test Determines Risk of Neutropenic Sepsis in Patients Undergoing Chemotherapy

Neutropenia, a decrease in neutrophils (a type of white blood cell crucial for fighting infections), is a frequent side effect of certain cancer treatments. This condition elevates the risk of infections,... Read more

Pathology

view channel
Image: The OvaCis Rapid Test discriminates benign from malignant epithelial ovarian cysts (Photo courtesy of INEX)

Intra-Operative POC Device Distinguishes Between Benign and Malignant Ovarian Cysts within 15 Minutes

Ovarian cysts represent a significant health issue for women globally, with up to 10% experiencing this condition at some point in their lives. These cysts form when fluid collects within a thin membrane... Read more
Copyright © 2000-2024 Globetech Media. All rights reserved.