Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome

Articolo

Data di Pubblicazione:

2020

Citazione:

Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome / Provenzano, A., Palazzo, V., Reho, P., Pagliazzi, A., Marozza, A., Farina, A., Zuffardi, O., Giglio, S.. - 40:7(2020), pp. 905-908. [10.1002/pd.5700]

Abstract:

NIPT is mainly limited to the screening of aneuploidies. The added value of WES, after an invasive procedure, in malformed fetuses that tested negative by chromosomal microarray, 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. Through a screening strategy, WES on cff-DNA can provide clinically relevant information in cases of fetal malformations characterized by high genetic heterogeneity.

Tipologia CRIS:

1.1 Articolo in rivista

Keywords:

Prenatal exome sequencing; Fetal cell free DNA; Non invasive prenatal diagnosis; Fetal anomalies; Aneuploidies; Gene sequence variants

Elenco autori:

Provenzano, Aldesia; Palazzo, Viviana; Reho, Paolo; Pagliazzi, Angelica; Marozza, Annabella; Farina, Antonio; Zuffardi, Orsetta; Giglio, Sabrina

Autori di Ateneo:

GIGLIO SABRINA RITA

Link alla scheda completa:

https://iris.unisr.it/handle/20.500.11768/196381