Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome

Sabrina Giglio
2020-01-01

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.
2020
Inglese
PRENATAL DIAGNOSIS
40
7
905
908
4
WOS:000527080300001
2-s2.0-85083668001
32277492
Esperti anonimi
internazionale
scientifica
Prenatal exome sequencing; Fetal cell free DNA; Non invasive prenatal diagnosis; Fetal anomalies; Aneuploidies; Gene sequence variants
no
Provenzano, Aldesia; Palazzo, Viviana; Reho, Paolo; Pagliazzi, Angelica; Marozza, Annabella; Farina, Antonio; Zuffardi, Orsetta; Giglio, SABRINA RITA
1.1 Articolo in rivista
info:eu-repo/semantics/article
1 Contributo su Rivista::1.1 Articolo in rivista
262
8
reserved
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