Congenital AnomaliesEPESNCT05290701
Evaluating Prenatal Exome Sequencing Study
An observational study of Congenital Anomalies and Mendelian Disorders, run by Leiden University Medical Center at 1 site in Netherlands.
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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Congenital Anomalies, Mendelian Disorders, Genetic Diseases, Inborn
- How many people
- 235 participants
- Where
- 1 siteNetherlands
- Study dates
- 21 Feb 2022to 23 Jan 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Pregnant women with one or more ultrasound findings during the current pregnancy who consent to pES, and their partner.
Who may be able to join
- 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.
Who cannot join
- There are no exclusion criteria.
Trial locations and contacts
1 site in 1 country.
Netherlands1 site
Leiden University Medical Centre
Leiden, South Holland, 2333ZA
About this study
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.
Read the 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 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.
- Keywords
- Prenatal diagnosis, Next Generation Sequencing, Whole Exome Sequencing, Patient perspectives, Clinical Utility
- Medical subject headings
- Congenital Abnormalities, Genetic Diseases, Inborn
What is being measured
The primary outcome is the main question the study is designed to answer.
Percentage of definitive diagnoses, probable diagnoses and incidental findings (IF)
Measured: 2 years
Secondary outcomes (3)
Patients perspectives on probable diagnoses and incidental findings including psychological wellbeing as measured by questionnaires.
We will use validated scales such as the State Trait Anxiety Inventory-6, the Decisional Conflict Scale, the Decisional Regret Scale, the Intolerance of Uncertainty Scale, the Impact of Event Scale and the Pre- and Postnatal Bonding Scale.
Measured: 2 years
Clinical impact of prenatal exome sequencing (pES)
Clinical impact will be defined as medical or surgical in utero intervention, pregnancy termination, location and mode of delivery, decisions on comfort care and neonatal policy influenced by the results of pES.
Measured: 2 years
Impact of different analysis strategies on the distribution of the various outcomes of pES (definitive diagnosis, probable diagnosis and incidental findings)
pES data of all included pregnancies will be retrieved and re-analyzed to minimize differences in variant interpretation and to determine the impact of different analysis strategies on the percentages of various outcomes of pES (definitive diagnoses, probable diagnoses and incidental findings). Different analysis strategies will be employed: analysis of an HPO-based gene panel, analysis of an established gene panel of genes causing multiple congenital anomalies and/or intellectual disability, and analysis of all genes.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Mar 2022
- Study start21 Feb 2022
- Primary completion12 Dec 2025
- Study completion23 Jan 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital AnomaliesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 235 participants (actual)
Sponsor and investigators
- Lead sponsor
- Leiden University Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, gwesanten, Leiden University Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05290701
- Sponsor's protocol ID
- NL77927.058.21
- Acronym
- EPES
- Status last verified
- Aug 2026
- First submitted
- 11 Mar 2022
- Last updated
- 31 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 31 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluating Prenatal Exome Sequencing Study
- ClinicalTrials.gov ID
- NCT05290701
- Acronym / sponsor ID
- EPES / NL77927.058.21
- Keywords
- Prenatal diagnosis, Next Generation Sequencing, Whole Exome Sequencing, Patient perspectives, Clinical Utility
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 235 participants (actual)
- Lead sponsor
- Leiden University Medical CenterUniversity, hospital or other
- Study start
- 21 Feb 2022 (actual)
- Primary completion
- 12 Dec 2025 (actual)
- Study completion
- 23 Jan 2026 (actual)
- First posted
- 22 Mar 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 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
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Pregnant women with one or more ultrasound findings during the current pregnancy who consent to pES, and their partner.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (1 listed)
- There are no exclusion criteria.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Percentage of definitive diagnoses, probable diagnoses and incidental findings (IF)
Time frame: 2 years
3 secondary outcomes
Patients perspectives on probable diagnoses and incidental findings including psychological wellbeing as measured by questionnaires.
Time frame: 2 years
Clinical impact of prenatal exome sequencing (pES)
Time frame: 2 years
Impact of different analysis strategies on the distribution of the various outcomes of pES (definitive diagnosis, probable diagnosis and incidental findings)
Time frame: 2 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Aug 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Anomalies and Mendelian Disorders, run by Leiden University Medical Center at 1 site in Netherlands.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 31 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Percentage of definitive diagnoses, probable diagnoses and incidental findings (IF) (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 31 Aug 2026.