Aneuploidy, Pregnancy Complications
Conditions
Keywords
Decision aid
Brief summary
The investigators aim to assess whether use of a novel, tablet-based computerized decision aid for aneuploidy screening is similar to routine care with a brief genetic counseling visit in improving patient knowledge and decreasing decisional conflict.
Detailed description
184 women will be randomized in a 1:1 fashion to use of a novel computerized iPad-based decision aid in addition to routine counseling or routine counseling only during a single study visit. This decision aid was developed at a 10th grade literacy level using input from Maternal Fetal Medicine physicians and certified genetic counselors, and piloted by 20 English and Spanish speaking women of varying education levels. Following completion of genetic counseling, participants will complete several surveys assessing knowledge and decision conflict. Data will be abstracted regarding demographics, screening and diagnostic testing uptake, and testing results.
Interventions
OTHERiPad-based decision aid
This is a novel decision aid developed by genetic counselors and Maternal Fetal Medicine physicians. It is used via an iPad and is interactive. It is available in English and Spanish has been piloted by 20 English and Spanish speaking women. It takes approximately 15 minutes to complete.
OTHERGenetic counseling appointment
All participants will undergo an approximately 15 minute educational genetic counseling appointment regarding aneuploidy screening options. Should family history concerns be identified on intake, this visit may be extended to include a discussion of additional issues.
Sponsors
North Carolina Translational and Clinical Sciences Institute
University of North Carolina, Chapel Hill
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
SUPPORTIVE_CARE
Masking
NONE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to 50 Years
Healthy volunteers
Yes
Inclusion criteria
* Pregnancy at less than 22 weeks gestation * English or Spanish speaking * Undergoing genetic counseling at North Carolina Women's Hospital for aneuploidy screening
Exclusion criteria
* Known fetal anomalies * Known multiple gestations * Prior genetic counseling or aneuploidy screening in current pregnancy
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Knowledge Score | At completion of genetic counseling for the Routine Care Group and at completion of decision aid and genetic counseling for Experimental Group, approximately 10-60 minutes | All patients in the intervention arm will complete a knowledge questionnaire following completion of the decision and and again immediately following genetic counseling. The investigators will assess noninferiority of the decision aid on participant knowledge, with primary outcome comparing knowledge after completion of the decision aid in the intervention arm, to knowledge following genetic counseling only in the routine care arm. The questionnaire is a modification of the validated Maternal Serum Screening Knowledge Questionnaire. This is on a 12-point scale (values 0-12), with higher score indicating greater knowledge. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Decisional Conflict Score | At completion of decision aid (Experimental group) and completion of genetic counseling (all participants), approximately 10-60 minutes | A low-literacy decisional conflict questionnaire will be used. This will be completed by patients in the intervention arm following use of the decision and and again following genetic counseling. It will be completed by patients in the routine care arm following genetic counseling. Decisional conflict at all time points will be compared - specifically, decisional conflict following decision aid completion in the Experimental Group will be compared to decisional conflict following genetic counseling in the Routine Care Group, and decisional conflict following both decision aid completion and genetic counseling in the Experimental Group will be compared to decisional conflict following genetic counseling in the Routine Care Group. This questionnaire is on a 40 point scale (values 0-40), with higher score indicating higher level of decisional conflict. |
| Test Chosen | At completion of decision aid and at completion genetic counseling, approximately 10-60 minutes | For participants in the intervention arm, initial choice of aneuploidy screening following use of the decision aid will be compared to final test chosen following genetic counseling. |
| Supplementary Tests Performed | 22 weeks gestation | Use of additional aneuploidy screening or testing modalities (cell-free DNA, chorionic villus sampling, or amniocentesis in addition to initial screening test) in the current pregnancy will be assessed up to 22 weeks gestation. |
Countries
United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| Routine Care These patients will receive routine care at our institution for counseling on aneuploidy screening; they will be counseled by a genetic counselor on options, and following counseling, will select their test of choice. All patients will complete a knowledge and demographics questionnaire prior to genetic counseling. Patients in this arm will then complete a knowledge and decisional conflict survey immediately following genetic counseling.
Genetic counseling appointment: All participants will undergo an approximately 15 minute educational genetic counseling appointment regarding aneuploidy screening options. Should family history concerns be identified on intake, this visit may be extended to include a discussion of additional issues. | 105 |
| Experimental These patients will use an iPad-based decision aid explaining options for aneuploidy screening and testing. They will then immediately be counseled by a genetic counselor on their options as is routine at our institution, and following counseling, will select their test of choice. All patients will complete a knowledge and demographics questionnaire prior to genetic counseling. Patients in this arm will then complete a knowledge and decisional conflict survey following use of the decision aid, and again immediately following genetic counseling.
iPad-based decision aid: This novel decision aid was developed by genetic counselors and Maternal Fetal Medicine physicians. It is used via an iPad and is interactive. It is available in English and Spanish has been piloted by 20 English and Spanish speaking women. It takes approximately 15 minutes to complete.
Genetic counseling appointment: All participants will undergo an approximately 15-min educational genetic counseling appointment | 92 |
| Total | 197 |
Baseline characteristics
| Characteristic | Routine Care | Experimental | Total |
|---|---|---|---|
| Age, Continuous | 32.4 years STANDARD_DEVIATION 5.7 | 32.7 years STANDARD_DEVIATION 5.6 | 32.6 years STANDARD_DEVIATION 5.6 |
| Race/Ethnicity, Customized Asian | 5 Participants | 9 Participants | 14 Participants |
| Race/Ethnicity, Customized Black | 19 Participants | 10 Participants | 29 Participants |
| Race/Ethnicity, Customized Hispanic/Latino | 15 Participants | 24 Participants | 39 Participants |
| Race/Ethnicity, Customized Unspecified/other | 3 Participants | 2 Participants | 5 Participants |
| Race/Ethnicity, Customized White | 63 Participants | 47 Participants | 110 Participants |
| Sex: Female, Male Female | 105 Participants | 92 Participants | 197 Participants |
| Sex: Female, Male Male | 0 Participants | 0 Participants | 0 Participants |
Adverse events
| Event type | EG000 affected / at risk | EG001 affected / at risk |
|---|---|---|
| deaths Total, all-cause mortality | 0 / 105 | 0 / 92 |
| other Total, other adverse events | 0 / 105 | 0 / 92 |
| serious Total, serious adverse events | 0 / 105 | 0 / 92 |
Outcome results
Primary
Knowledge Score
All patients in the intervention arm will complete a knowledge questionnaire following completion of the decision and and again immediately following genetic counseling. The investigators will assess noninferiority of the decision aid on participant knowledge, with primary outcome comparing knowledge after completion of the decision aid in the intervention arm, to knowledge following genetic counseling only in the routine care arm. The questionnaire is a modification of the validated Maternal Serum Screening Knowledge Questionnaire. This is on a 12-point scale (values 0-12), with higher score indicating greater knowledge.
Time frame: At completion of genetic counseling for the Routine Care Group and at completion of decision aid and genetic counseling for Experimental Group, approximately 10-60 minutes
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Routine Care | Knowledge Score | 10.6 score on a scale | Standard Deviation 1.9 |
| Experimental | Knowledge Score | 10.2 score on a scale | Standard Deviation 2.4 |
p-value: 0.929Wilcoxon rank-sum
Secondary
Decisional Conflict Score
A low-literacy decisional conflict questionnaire will be used. This will be completed by patients in the intervention arm following use of the decision and and again following genetic counseling. It will be completed by patients in the routine care arm following genetic counseling. Decisional conflict at all time points will be compared - specifically, decisional conflict following decision aid completion in the Experimental Group will be compared to decisional conflict following genetic counseling in the Routine Care Group, and decisional conflict following both decision aid completion and genetic counseling in the Experimental Group will be compared to decisional conflict following genetic counseling in the Routine Care Group. This questionnaire is on a 40 point scale (values 0-40), with higher score indicating higher level of decisional conflict.
Time frame: At completion of decision aid (Experimental group) and completion of genetic counseling (all participants), approximately 10-60 minutes
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| Routine Care | Decisional Conflict Score | Pre-genetic counseling/post-decision aid | NA score on a scale | — |
| Routine Care | Decisional Conflict Score | Post-Genetic Counseling | 1.7 score on a scale | Standard Deviation 4.8 |
| Experimental | Decisional Conflict Score | Pre-genetic counseling/post-decision aid | 1.6 score on a scale | Standard Deviation 3.5 |
| Experimental | Decisional Conflict Score | Post-Genetic Counseling | 0.2 score on a scale | Standard Deviation 3.5 |
Comparison: Decisional conflict was measured in 2 separate time points in the experimental group - both prior to and following genetic counseling. This analysis compares decisional conflict in the routine care group (after counseling only) to the experimental group following decision aid completion but prior to genetic counseling (first row, second column in above table).p-value: 0.369Wilcoxon rank-sum
Comparison: Decisional conflict was measured in 2 separate time points in the experimental group - both prior to and following genetic counseling. This analysis compares decisional conflict in the routine care group (after counseling only) to the experimental group following decision aid completion and genetic counseling (second row, second column in above table).p-value: 0.003Wilcoxon rank-sum
Comparison: Decisional conflict was measured in 2 separate time points in the experimental group - both prior to and following genetic counseling. This analysis compares decisional conflict pre-genetic counseling/post-decision aid to post-genetic counseling.p-value: 0.003Wilcoxon signed-rank
Secondary
Supplementary Tests Performed
Use of additional aneuploidy screening or testing modalities (cell-free DNA, chorionic villus sampling, or amniocentesis in addition to initial screening test) in the current pregnancy will be assessed up to 22 weeks gestation.
Time frame: 22 weeks gestation
Population: This analysis was updated to include only invasive testing - these numbers represent those women undergoing chorionic villus sampling or amniocentesis for high risk screening results.
| Arm | Measure | Category | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|---|
| Routine Care | Supplementary Tests Performed | Invasive testing for high-risk results | 2 Participants |
| Routine Care | Supplementary Tests Performed | No invasive testing for high-risk results | 2 Participants |
| Experimental | Supplementary Tests Performed | Invasive testing for high-risk results | 1 Participants |
| Experimental | Supplementary Tests Performed | No invasive testing for high-risk results | 1 Participants |
Secondary
Test Chosen
For participants in the intervention arm, initial choice of aneuploidy screening following use of the decision aid will be compared to final test chosen following genetic counseling.
Time frame: At completion of decision aid and at completion genetic counseling, approximately 10-60 minutes
Population: Some participants chose not to answer this question and so the numbers above reflect the number of participants for whom we have data.
| Arm | Measure | Category | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|---|
| Routine Care | Test Chosen | Cell free DNA | 27 Participants |
| Routine Care | Test Chosen | Chorionic villus sampling | 0 Participants |
| Routine Care | Test Chosen | First trimester screen | 35 Participants |
| Routine Care | Test Chosen | Amniocentesis | 1 Participants |
| Routine Care | Test Chosen | Quadruple analyte screen | 3 Participants |
| Routine Care | Test Chosen | Don't know | 2 Participants |
| Routine Care | Test Chosen | None/US only | 17 Participants |
| Experimental | Test Chosen | Don't know | 0 Participants |
| Experimental | Test Chosen | None/US only | 11 Participants |
| Experimental | Test Chosen | First trimester screen | 28 Participants |
| Experimental | Test Chosen | Cell free DNA | 25 Participants |
| Experimental | Test Chosen | Quadruple analyte screen | 2 Participants |
| Experimental | Test Chosen | Chorionic villus sampling | 1 Participants |
| Experimental | Test Chosen | Amniocentesis | 0 Participants |