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Evaluating Prenatal Exome Sequencing Study — EPES  

Genetic Diseases, Inborn Clinical Trial

Official title:
Evaluating Prenatal Exome Sequencing Study

Clinical Trial Summary

This study evaluates the impact of the various outcomes of pES (definitive diagnosis, probable diagnosis and IF) on clinical decision making and on parental psychological wellbeing, compared between different analysis strategies to investigate the clinical utility, defined as the balance between potential harms and benefits.

Clinical Trial Description

Foetal anomalies as detected on prenatal ultrasound are present in 2-3% of pregnancies. The diagnosis of a genetic syndrome as the underlying cause often has significant consequences for the prognosis and therefore also a significant impact on parental reproductive decision making. In addition to chromosomal testing, prenatal exome sequencing (pES) is increasingly being offered. Although prenatal diagnostic rates are promising, no studies report on the actual implementation of pES in routine care and thus several important knowledge gaps remain regarding clinical utility (the balance between potential harms and benefits) and the preferred analysis strategy (broad versus targeted analysis). A broad analysis has a possible higher diagnostic yield, but it is unknown whether the increased chance of finding an uncertain diagnosis and Incidental Findings outweighs this benefit when it comes to clinical decision making and parental psychological wellbeing. The central aim of this study is to address the knowledge gaps raised above, and increase clinical utility by using the obtained data to improve analysis strategies and to potentially identify new genes. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT05290701
Study type Observational
Source Leiden University Medical Center
Contact
Status Enrolling by invitation
Phase
Start date February 21, 2022
Completion date April 1, 2025
View Details
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