Status:

ACTIVE_NOT_RECRUITING

Evaluating Prenatal Exome Sequencing Study

Lead Sponsor:

Leiden University Medical Center

Conditions:

Congenital Anomalies

Mendelian Disorders

Eligibility:

All Genders

18+ years

Brief 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 d...

Detailed 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...

Eligibility Criteria

Inclusion

  • At least one fetal anomaly detected in the current pregnancy, irrespective of gestational age;
  • Pregnancy ongoing;
  • Mother at least 18 years old and providing consent for pES;
  • If father is available: father at least 18 years old and providing consent for pES.

Exclusion

  • There are no exclusion criteria.

Key Trial Info

Start Date :

February 21 2022

Trial Type :

OBSERVATIONAL

Allocation :

ACTUAL

End Date :

October 1 2026

Estimated Enrollment :

235 Patients enrolled

Trial Details

Trial ID

NCT05290701

Start Date

February 21 2022

End Date

October 1 2026

Last Update

March 6 2025

Active Locations (1)

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Leiden University Medical Centre

Leiden, South Holland, Netherlands, 2333ZA