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
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome / Aldesia Provenzano, Viviana Palazzo, Paolo Reho, Angelica Pagliazzi, Annabella Marozza, Antonio Farina, Orsetta Zuffardi, Sabrina Giglio. - In: PRENATAL DIAGNOSIS. - ISSN 1097-0223. - ELETTRONICO. - (2020), pp. 0-0. [10.1002/pd.5700]
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome
Aldesia Provenzano;Viviana Palazzo;Paolo Reho;Angelica Pagliazzi;Annabella Marozza;Orsetta Zuffardi;Sabrina Giglio
2020
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
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