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Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13

6 Oct 2024

Abstract excerpt

OBJECTIVE: We report data of non-invasive prenatal testing (NIPT) at Uppsala University Hospital between 2017-2022. Furthermore, we illustrate the potential capacity of massive parallel sequencing-based NIPT beyond identification of common trisomies. METHODS: Maternal blood samples were analyzed using the Verifi NIPT or VeriSeq NIPT assays. Diagnostic testing, performed on amniotic fluid samples, included QF-PCR,...

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Share to Fetal and Pediatric Neurological Disorders
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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PMID: 39393256
DOI: 10.1016/j.ejogrb.2024.10.007

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