Publication Date:
2020
Short description:
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.
Iris type:
1.1 Articolo in rivista
Keywords:
Prenatal exome sequencing; Fetal cell free DNA; Non invasive prenatal diagnosis; Fetal anomalies; Aneuploidies; Gene sequence variants
List of contributors: