Article

Development and Validation of a Non-invasive cfDNA Assay for Dominant Monogenic Disorders in Pregnancies Stratified by Ultrasound Risk

2025-11-24

Abstract excerpt

<h4>Background: </h4> Dominant monogenic disorders contribute substantially to neonatal morbidity, yet their detection remains challenging in routine prenatal screening. While non-invasive prenatal testing (NIPT) has proven effective for aneuploidy, its application to single-gene disorders (SGDs) is limited by technical sensitivity, particularly in pregnancies without known risk factors. <h4>Methods: </h4>: We de...

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Literature Corpus work: 69e361dc-a6bc-5d3d-b37e-4c3cc2316a0b
DOI: 10.22541/au.176400738.85364782/v1

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