What's already known about this topic? NIPT is mainly limited to the screening of aneuploidies. The added value of WES, after an invasive procedure, in mal- formed fetuses that tested negative by chromosomal micro- array, claims for the application of NIPT to the screening of gene sequence variants, which are unpredictable with respect to family history and the type of fetal anomalies. What does this study add? Through a screening strategy, WES on cff-DNA can provide clinically relevant information in cases of fetal mal- formations characterized by high genetic heterogeneity.

Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome

Farina A.
Penultimo
;
2020

Abstract

What's already known about this topic? NIPT is mainly limited to the screening of aneuploidies. The added value of WES, after an invasive procedure, in mal- formed fetuses that tested negative by chromosomal micro- array, claims for the application of NIPT to the screening of gene sequence variants, which are unpredictable with respect to family history and the type of fetal anomalies. What does this study add? Through a screening strategy, WES on cff-DNA can provide clinically relevant information in cases of fetal mal- formations characterized by high genetic heterogeneity.
2020
Provenzano A.; Palazzo V.; Reho P.; Pagliazzi A.; Marozza A.; Farina A.; Zuffardi O.; Giglio S.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/806051
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