Publications by authors named "Faizan Hakamali"
Article Synopsis
- The study aimed to assess a new automated cell-free DNA assay for screening maternal plasma to detect trisomies 21, 18, and 13 and determine fetal sex.
- Involving 1,200 singleton pregnancies, the method analyzed maternal plasma with a non-sequencing approach based on imaging and counting chromosome targets, validated by cytogenetic testing and clinical examination.
- Results showed the assay's excellent sensitivity and specificity for detecting the mentioned trisomies and accurate fetal sex classification, suggesting it could be simplified for broader use and reduced costs in population screening.
Cell-free DNA analysis is becoming adopted for first line aneuploidy screening, however for most healthcare programs, cost and workflow complexity is limiting adoption of the test. We report a novel cost effective method, the Vanadis NIPT assay, designed for high precision digitally-enabled measurement of chromosomal aneuploidies in maternal plasma. Reducing NIPT assay complexity is achieved by using novel molecular probe technology that specifically label target chromosomes combined with a new readout format using a nanofilter to enrich single molecules for imaging and counting without DNA amplification, microarrays or sequencing.
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