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.
Provenzano A., Palazzo V., Reho P., Pagliazzi A., Marozza A., Farina A., et al. (2020). Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome. PRENATAL DIAGNOSIS, 40(7), 905-908 [10.1002/pd.5700].
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
