Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?

ABSTRACT:

Background/objectives

Prenatal Exome Sequencing (pES) has revolutionized prenatal diagnosis in fetuses with congenital anomalies. Although its performance is very promising, previous pES studies have mainly focused on diagnostic yield, often without considering the actual impact on ongoing pregnancies. In this study, we aim to (1) assess whether a prenatal molecular diagnosis can reliably predict the clinical features of the unborn child and (2) determine the gestational age (gw) at which ultrasound (US) findings are sufficient to support the pathogenicity of genetic variants detected by pES.

Methods

We retrospectively selected 47 cases complicated by US anomalies that underwent Exome Sequencing (ES) and for which complete clinical assessment was available. A blinded reanaly

SUBMITTER: Carrer A 

PROVIDER: S-EPMC12841175 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature