Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Objective: This study evaluates the impact of offering cell-free DNA (cfDNA) screening as a first-tier test for trisomies 21 and 18.
Methods: This is a prospective study of pregnant women undergoing conventional prenatal screening who were offered cfDNA screening in the first trimester with clinical outcomes obtained on all pregnancies.
Results: A total of 1198 pregnant women were recruited. The detection rate of trisomy 21 with standard screening was 83% with a false positive rate (FPR) of 5.5% compared with 100% detection and 0% FPR for cfDNA screening. The FPR of cfDNA screening for trisomies 18 and 13 was 0.09% for each. Two percent of women underwent an invasive diagnostic procedure based on screening or ultrasound findings; without the cfDNA screening, it could have been as high as 6.8%. Amongst the 640 women with negative cfDNA results and a nuchal translucency (NT) ultrasound, only 3 had an NT greater or equal to 3.5 mm: one had a normal outcome and two lost their pregnancy before 20 weeks.
Conclusions: cfDNA screening has the potential to be a highly effective first-tier screening approach leading to a significant reduction of invasive diagnostic procedures. For women with a negative cfDNA screening result, NT measurement has limited clinical utility.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/pd.5174 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Plasma cfDNA analysis of alectinib resistance-related gene alterations in the J-ALEX study.
ESMO Open
September 2025
Department of Medical Oncology, Kanazawa University Hospital, Kanazawa, Japan. Electronic address:
Background: Resistance to alectinib, the standard first-line therapy for anaplastic lymphoma kinase (ALK)-rearranged non-small-cell lung cancer (NSCLC), remains a major clinical challenge. This study aimed to investigate resistance mechanisms using next-generation sequencing (NGS) of plasma cell-free DNA (cfDNA).
Materials And Methods: Plasma samples from 67 patients in the alectinib group of the J-ALEX study were collected at baseline, on day 57, and at treatment discontinuation.
Expression patterns of plasma microRNAs in patients with cervical cancer from two teaching hospitals in Ghana.
J Cancer Res Clin Oncol
September 2025
Department of Forensic Sciences, School of Biological Sciences, University of Cape Coast, Cape Coast, Ghana.
Aim: Early cervical cancer diagnosis is a global challenge that needs to be addressed by the discovery of less invasive diagnostic and prognostic approaches. Circulating miRNAs are stable in plasma and their diagnostic potentials have been elucidated in some cancers. Therefore, in this cross-sectional study, we determined the patterns of expression of 7 selected circulating microRNAs that differ between patients with cervical cancer receiving therapy, patients with cervical not on therapy and healthy females.
View Article and Find Full Text PDFClinical validation of liquid biopsy-RECIST (LB-RECIST) in metastatic colorectal cancer (mCRC) patients: findings from the PLATFORM-B study.
ESMO Open
September 2025
Hospital del Mar Research Institute Barcelona, Medical Oncology Department, Hospital del Mar, Barcelona, Spain; Universitat Pompeu Fabra, Barcelona, Spain; Centro de Investigación Biomédica en Red de Oncología (CIBERONC-ISCIII), Madrid, Spain. Electronic address:
Background: Circulating tumor DNA (ctDNA) variations predict tumor response to systemic treatment (so-called molecular response) earlier than radiological assessment. However, a standardized categorization of molecular response is an unmet clinical need. Liquid biopsy-RECIST (LB-RECIST), based on aggregate variant allele frequency (aggVAF; sum of all detected variant allele frequencies in a sample) variations, has been proposed to stratify molecular response.
View Article and Find Full Text PDFDetecting Cancer Early with Ultrasensitive Multimodal Liquid Biopsy.
Cancer Discov
September 2025
IFOM-ETS The AIRC Institute of Molecular Oncology, Milan, Italy.
Wang and colleagues showed that ctDNA can be detected in plasma up to 3 years prior to clinical diagnosis. The study highlights the need for ultrasensitive and multimodal approaches that integrate the detection of mutations and copy-number changes with advanced computational platforms to deliver effective early-detection strategies. See related article by Wang et al.
View Article and Find Full Text PDFExploring the role of circulating microRNAs as potential diagnostic markers in Mycobacterium paratuberculosis.
Vet Ital
September 2025
Department of Biotechnology, Institute of Applied Sciences and Humanities, GLA University, Mathura, India.
Extracellular vesicles (EVs) are cell-derived and play a notable role in the development of chronic diseases and can be used as biomarkers as they transport microRNAs (miRNA). Existing research has found that most miRNA functions are carried out via intercellular transmission of EVs, which can protect and sort miRNAs. Early detection of disease is crucial for controlling the spread of the disease and improving livestock prognosis.
View Article and Find Full Text PDF