Table 1.
Topics, questions, and answer format of the measures as used in the questionnaires
| Topics | Questionnaire | Questions |
|---|---|---|
| Familiarity with disorders | ||
| Familiarity with the disorders | Q1, Q-retro, Q-non | Do you have a family member or know someone else with one of the four disorders? (No/Yes, which disorders, who?) |
| Familiarity with carrier status | Q1, Q-retro | Do you have a family member who is carrier of one of the four disorders? (No/Yes, which disorders, who?) |
| Reasons for attending/testing | ||
| Reason(s) for having the carrier test | Q2, Q-retro | What was the main reason for having the carrier test? (tick one box from a list of 11 reasons with the option to add other reason) |
| Familiarity with the carrier test/outpatient clinic | Q1, Q-retro, Q-non | (How) Did you hear about the carrier test/outpatient clinic? (Family members, friends/colleagues, GP, midwife, television/radio, newspapers, internet, I don’t remember, other) (multiple answers possible) |
| Knowledge | ||
| Knowledgea | Q1–Q3, Q-retro | Six questions (see Supplementary Table 3) |
| Psychological outcomes and impact | ||
| Anxiety (STAI)b | Q1–Q3 | Six items |
| Worryc | Q3, Q-retro | I was worried while waiting for my test results |
| Q3, Q-retro | I am worried now about my test results | |
| Health perceptionc | Q3, Q-retro | I feel less healthy after hearing the test results |
| Relationshipc | Q3, Q-retro | Did the results of the carrier test affect your relationship? (If yes, positive, negative, both positive and negative. Please explain). |
| Stigmatizationc | Q1 | I expect that other people would see me differently if I turn out to be a carrier |
| Q1, Q-retro | What do you think about the possibility of carrier testing for the four genetic disorders in your village? (5-point semantic scale: discriminatory [1]—a privilege [5]) | |
| Recall of test results | ||
| Recall of test results | Q3, Q-retro | Do you remember the results of the carrier test of you and your partner? (For each of the four disorders, each participant was asked to answer if they and/or their partner is a carrier; not a carrier; had not been tested) |
| Satisfaction | ||
| Satisfaction | Q3, Q-retro | If I had to decide again, I would participate again (If no, why not?) |
| Q3, Q-retro, Q-non | Would you recommend the screening to other people of your village? (Yes/No/I don’t know) | |
| Preferences regarding genetic counseling | ||
| Necessity pretest consultation | Q2, Q-retro | Do you find it necessary that couples, who want to have a carrier test, always have a consultation before the test? (If yes, why? If no, by leaflet and/or online?) |
| Genetic counselorc | Q1 | I would rather prefer to have the genetic consultation with my GP than the clinical geneticist |
| Preconception care consultation | Q1, Q-retro | Did you also visit the midwife for a general preconception care consultation? (Yes/No, why?) |
| Reproductive intentions and decisions | ||
| Pregnancy | Q-retro | Were you pregnant at the time of the carrier test? (If yes, what was the reason for testing during pregnancy (and not before pregnancy)?) |
| Reproductive intentionsc | Q1 | The results of the carrier test could help me in the future in making decisions about having children |
| Q2 | I would not have (anymore) children if my partner and I were both carriers of the same disorder | |
| Q2 | I would opt for prenatal diagnosis if my partner and I were both carriers of the same disorder | |
| Q2 | I would consider termination of pregnancy if the unborn child was affected with one of the four disorders | |
| Q2 | I would want to have more information about PGD if my partner and I were both carriers of the same disorder | |
| Reproductive decisions | Q3, Q-retro | Did the test results change your ideas about having children? (Yes/No/I don’t know. If yes, why?) |
| Q3, Q-retro | Did you have children after receiving the results of the carrier test or are you/ is your partner pregnant? | |
| Non-attendees | ||
| Non-attendees | Q-non | Are you eligible for an appointment at the outpatient clinic? (If no, why are you not eligible? If yes, are you planning to make an appointment? If no, why are you not planning to make an appointment)? |
| Q-non | Did you do the carrier test?/ Would you like to do the carrier test? | |
aThe number of correct answers was calculated as a sum-score, with a maximum of 6
bCronbach’s α for the STAI scale (Q1) was 0.85
cItems were measured on a 5-point Likert-scale ranging from fully disagree (1) to fully agree (5) and were recoded where necessary