Objective To review clinical validation or implementation studies of maternal blood cell‐free
(cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 …

Objective To measure test accuracy of non-invasive prenatal testing (NIPT) for Down,
Edwards and Patau syndromes using cell-free fetal DNA and identify factors affecting …

Next-generation sequencing (NGS) methods for cancer testing have been rapidly adopted
by clinical laboratories. To establish analytical validation best practice guidelines for NGS …

Objectives: To evaluate the potential of metagenomic next-generation sequencing (mNGS),
compared with that of comprehensive conventional microbiological tests (CMTs), of …

Introduction This study aimed to evaluate the utility of metagenomic next-generation
sequencing (mNGS) for the diagnosis of Pneumocystis jirovecii pneumonia (PJP) in non …

Pulmonary infections are among the most common and important infectious diseases due to
their high morbidity and mortality, especially in older and immunocompromised individuals …

Purpose The application of metagenomic next-generation sequencing (mNGS) in the
diagnosis of tuberculous meningitis (TBM) remains poorly characterized. Here, we …

Background Common fetal aneuploidies include Down syndrome (trisomy 21 or T21),
Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner …

Background Co‐infections, secondary bacterial or fungal infections, are important risk
factors for poor outcomes in viral infections. The prevalence of co‐infection and secondary …

We screened for viral DNA in cerebrospinal fluid samples using next-generation sequencing
(NGS) technology to diagnose CNS viral infections. We collected CSF samples from four …