Preconception Carrier Screening at the Erasmus MC

August 7, 2024 updated by: Judith P.H. Robbemont, Erasmus Medical Center

The New Wave of Preconception Carrier Screening: the Nurse Practitioner in the Lead?

Rationale A recent advisory report by the 'Health Council' has recommended that all prospective parents should have the opportunity to undergo preconception carrier screening. Consequently,there will no longer be any prerequisites for referring a couple. It is expected that there will be an increase in the number of prospective parents seeking counseling for preconception carrier screening. This is anticipated to result in an increase in the number of referrals, leading to several points of attention.

Objective(s) The aim of the research is to gather insights, perspectives, and experiences from healthcare professionals and prospective parents in order to design a care pathway for offering preconception carrier screening at Erasmus MC and the Rotterdam region. This will also include examining the role that nurse practitioners can play in this offering.

Study Overview

Status

Recruiting

Detailed Description

Study type Exploratory research. Study population Healthcare professionals involved in preconception carrier screening and potential prospective parents who might want to undergo preconception carrier screening in the future. Methods Semi-structured interviews and focus groups will be used to explore topics which will be audio recorded and transcribed verbatim. The results will be analyzed by two to three researchers independently following the principles of grounded theory.

Burden and risks There are no risks associated with this research. For the interviewees and participants of the focus groups there is the burden of time investment. Recruitment and consent Health care professionals and potential prospective parents will be asked for participation in the study by the treating physician. If they consent to be approached, they will be informed about the study and contacted by the researcher. If willing to participate, an appointment for the interview/focus group is scheduled. Before the start of the interview/focus group, signed informed consent will be obtained.

Study Type

Observational

Enrollment (Estimated)

35

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Health care professionals involved in preconception carrier screening at Amsterdam UMC and UMC Groningen. Gynaecologists (in training), midwives, general practitioners, nurse practitioners and clinical geneticists from the clinical genetics department Erasmus MC and potential prospective parents who might want to undergo preconception carrier screening in the future.

Description

Inclusion Criteria:

  • Health care professionals working with potential prospective parents.
  • Potential prospective parents who might want to undergo preconception carrier screening in the future.

Exclusion Criteria:

  • (Dutch) language proficiency not sufficient.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
General practitioners
Experts of experience
Health care professionals involved in preconception carrier screening at Amsterdam UMC, UMC Groningen and Australia
Gynaecologists (in training)
Midwives
Nurse practitioners and/or clinical geneticists
Potential prospective patients who might want to undergo preconception carrier screening

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Creating a pathway for preconception carrier screening using focus groups and interviews.
Time Frame: 1 year
Using focus groups and interviews to gather insights, perspectives, and experiences from healthcare professionals and prospective parents in order to design a care pathway for offering preconception carrier screening at Erasmus MC and the Rotterdam region.
1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

July 30, 2024

Primary Completion (Estimated)

April 30, 2025

Study Completion (Estimated)

June 30, 2025

Study Registration Dates

First Submitted

July 30, 2024

First Submitted That Met QC Criteria

August 7, 2024

First Posted (Actual)

August 9, 2024

Study Record Updates

Last Update Posted (Actual)

August 9, 2024

Last Update Submitted That Met QC Criteria

August 7, 2024

Last Verified

August 1, 2024

More Information

Terms related to this study

Other Study ID Numbers

  • 12716

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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