Preconception Carrier Screening at the Erasmus MC

Inherited Genetic Conditions

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 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.

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