NCT05290701

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 different analysis strategies to investigate the clinical utility, defined as the balance between potential harms and benefits.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
235

participants targeted

Target at P75+ for all trials

Timeline
5mo left

Started Feb 2022

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
active not recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Progress91%
Feb 2022Oct 2026

Study Start

First participant enrolled

February 21, 2022

Completed
18 days until next milestone

First Submitted

Initial submission to the registry

March 11, 2022

Completed
11 days until next milestone

First Posted

Study publicly available on registry

March 22, 2022

Completed
3.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 1, 2025

Completed
1 year until next milestone

Study Completion

Last participant's last visit for all outcomes

October 1, 2026

Expected
Last Updated

March 6, 2025

Status Verified

March 1, 2025

Enrollment Period

3.6 years

First QC Date

March 11, 2022

Last Update Submit

March 4, 2025

Conditions

Congenital AnomaliesMendelian DisordersGenetic Diseases, Inborn

Keywords

Prenatal diagnosisNext Generation SequencingWhole Exome SequencingPatient perspectivesClinical Utility

Outcome Measures

Primary Outcomes (1)

  • Percentage of definitive diagnoses, probable diagnoses and incidental findings (IF)

    2 years

Secondary Outcomes (3)

  • Patients perspectives on probable diagnoses and incidental findings including psychological wellbeing as measured by questionnaires.

    2 years

  • Clinical impact of prenatal exome sequencing (pES)

    2 years

  • Impact of different analysis strategies on the distribution of the various outcomes of pES (definitive diagnosis, probable diagnosis and incidental findings)

    2 years

Other Outcomes (1)

  • Number of identified new disease genes

    2 years

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Pregnant women with one or more ultrasound findings during the current pregnancy who consent to pES, and their partner.

You may qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Leiden University Medical Centre

Leiden, South Holland, 2333ZA, Netherlands

Location

MeSH Terms

Conditions

Congenital AbnormalitiesGenetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Clinical Geneticist

Study Record Dates

First Submitted

March 11, 2022

First Posted

March 22, 2022

Study Start

February 21, 2022

Primary Completion

October 1, 2025

Study Completion (Estimated)

October 1, 2026

Last Updated

March 6, 2025

Record last verified: 2025-03

Locations

NL(1)