Trial Outcomes & Findings for Prenatal Genetic Diagnosis by Genomic Sequencing (NCT NCT03936101)
NCT ID: NCT03936101
Last Updated: 2025-10-27
Results Overview
Reportable variants: defined as either Pathogenic / Likely pathogenic (P/LP) or variant of uncertain significance (VUS) identified by sequencing and deemed reportable by the Variant Adjudication Committee.
COMPLETED
1097 participants
At end of study, approx 4 years
2025-10-27
Participant Flow
Signed informed consent was obtained from the mother and the genetic father of the fetus prior to any study procedures for prospective enrollment. Enrollment of participants in the retrospective unsequenced prenatal group occurred under a waiver of consent. The "participants" in this record refer to the fetuses from which all study data was collected.
Participant milestones
| Measure |
Prenatally Sequenced Group
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Overall Study
STARTED
|
751
|
346
|
|
Overall Study
COMPLETED
|
751
|
346
|
|
Overall Study
NOT COMPLETED
|
0
|
0
|
Reasons for withdrawal
Withdrawal data not reported
Baseline Characteristics
Sex/gender was not collected from any fetus
Baseline characteristics by cohort
| Measure |
Prenatally Sequenced Group
n=751 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
n=346 Participants
Pregnancies will not have any prenatal genomic sequencing.
|
Total
n=1097 Participants
Total of all reporting groups
|
|---|---|---|---|
|
Age, Continuous
|
20.4 weeks
n=751 Participants
|
22.1 weeks
n=346 Participants
|
21.0 weeks
n=1097 Participants
|
|
Sex: Female, Male
Female
|
—
|
—
|
0 Participants
Sex/gender was not collected from any fetus
|
|
Sex: Female, Male
Male
|
—
|
—
|
0 Participants
Sex/gender was not collected from any fetus
|
|
Race/Ethnicity, Customized
Maternal race/ethnicity · Black
|
66 Participants
n=751 Participants
|
55 Participants
n=346 Participants
|
121 Participants
n=1097 Participants
|
|
Race/Ethnicity, Customized
Maternal race/ethnicity · White
|
448 Participants
n=751 Participants
|
173 Participants
n=346 Participants
|
621 Participants
n=1097 Participants
|
|
Race/Ethnicity, Customized
Maternal race/ethnicity · Hispanic
|
156 Participants
n=751 Participants
|
96 Participants
n=346 Participants
|
252 Participants
n=1097 Participants
|
|
Race/Ethnicity, Customized
Maternal race/ethnicity · Other
|
81 Participants
n=751 Participants
|
22 Participants
n=346 Participants
|
103 Participants
n=1097 Participants
|
|
Race/Ethnicity, Customized
Paternal race/ethnicity · Black
|
68 Participants
n=750 Participants • Of the 346 enrolled in the unsequenced comparison cohort, 150 were enrolled prospectively and 196 were retrospectively enrolled. Paternal race/ethnicity was not collected from the retrospective cohort. Paternal race/ethnicity was not collected from one participant in the sequenced arm.
|
20 Participants
n=150 Participants • Of the 346 enrolled in the unsequenced comparison cohort, 150 were enrolled prospectively and 196 were retrospectively enrolled. Paternal race/ethnicity was not collected from the retrospective cohort. Paternal race/ethnicity was not collected from one participant in the sequenced arm.
|
88 Participants
n=900 Participants • Of the 346 enrolled in the unsequenced comparison cohort, 150 were enrolled prospectively and 196 were retrospectively enrolled. Paternal race/ethnicity was not collected from the retrospective cohort. Paternal race/ethnicity was not collected from one participant in the sequenced arm.
|
|
Race/Ethnicity, Customized
Paternal race/ethnicity · White
|
456 Participants
n=750 Participants • Of the 346 enrolled in the unsequenced comparison cohort, 150 were enrolled prospectively and 196 were retrospectively enrolled. Paternal race/ethnicity was not collected from the retrospective cohort. Paternal race/ethnicity was not collected from one participant in the sequenced arm.
|
91 Participants
n=150 Participants • Of the 346 enrolled in the unsequenced comparison cohort, 150 were enrolled prospectively and 196 were retrospectively enrolled. Paternal race/ethnicity was not collected from the retrospective cohort. Paternal race/ethnicity was not collected from one participant in the sequenced arm.
|
547 Participants
n=900 Participants • Of the 346 enrolled in the unsequenced comparison cohort, 150 were enrolled prospectively and 196 were retrospectively enrolled. Paternal race/ethnicity was not collected from the retrospective cohort. Paternal race/ethnicity was not collected from one participant in the sequenced arm.
|
|
Race/Ethnicity, Customized
Paternal race/ethnicity · Hispanic
|
151 Participants
n=750 Participants • Of the 346 enrolled in the unsequenced comparison cohort, 150 were enrolled prospectively and 196 were retrospectively enrolled. Paternal race/ethnicity was not collected from the retrospective cohort. Paternal race/ethnicity was not collected from one participant in the sequenced arm.
|
32 Participants
n=150 Participants • Of the 346 enrolled in the unsequenced comparison cohort, 150 were enrolled prospectively and 196 were retrospectively enrolled. Paternal race/ethnicity was not collected from the retrospective cohort. Paternal race/ethnicity was not collected from one participant in the sequenced arm.
|
183 Participants
n=900 Participants • Of the 346 enrolled in the unsequenced comparison cohort, 150 were enrolled prospectively and 196 were retrospectively enrolled. Paternal race/ethnicity was not collected from the retrospective cohort. Paternal race/ethnicity was not collected from one participant in the sequenced arm.
|
|
Race/Ethnicity, Customized
Paternal race/ethnicity · Other
|
75 Participants
n=750 Participants • Of the 346 enrolled in the unsequenced comparison cohort, 150 were enrolled prospectively and 196 were retrospectively enrolled. Paternal race/ethnicity was not collected from the retrospective cohort. Paternal race/ethnicity was not collected from one participant in the sequenced arm.
|
7 Participants
n=150 Participants • Of the 346 enrolled in the unsequenced comparison cohort, 150 were enrolled prospectively and 196 were retrospectively enrolled. Paternal race/ethnicity was not collected from the retrospective cohort. Paternal race/ethnicity was not collected from one participant in the sequenced arm.
|
82 Participants
n=900 Participants • Of the 346 enrolled in the unsequenced comparison cohort, 150 were enrolled prospectively and 196 were retrospectively enrolled. Paternal race/ethnicity was not collected from the retrospective cohort. Paternal race/ethnicity was not collected from one participant in the sequenced arm.
|
|
Region of Enrollment
United States
|
751 participants
n=751 Participants
|
346 participants
n=346 Participants
|
1097 participants
n=1097 Participants
|
|
Anomaly systems involved
Single anomaly system
|
474 Participants
n=751 Participants
|
234 Participants
n=346 Participants
|
708 Participants
n=1097 Participants
|
|
Anomaly systems involved
Multiple anomaly systems
|
277 Participants
n=751 Participants
|
112 Participants
n=346 Participants
|
389 Participants
n=1097 Participants
|
|
Type of anomaly
Cardiovascular
|
193 Participants
n=751 Participants
|
150 Participants
n=346 Participants
|
343 Participants
n=1097 Participants
|
|
Type of anomaly
central nervous system
|
203 Participants
n=751 Participants
|
79 Participants
n=346 Participants
|
282 Participants
n=1097 Participants
|
|
Type of anomaly
Craniofacial
|
96 Participants
n=751 Participants
|
34 Participants
n=346 Participants
|
130 Participants
n=1097 Participants
|
|
Type of anomaly
Cystic hygroma (nuchal translucency (NT) ≥ 4.5 mm)
|
74 Participants
n=751 Participants
|
4 Participants
n=346 Participants
|
78 Participants
n=1097 Participants
|
|
Type of anomaly
Effusion
|
88 Participants
n=751 Participants
|
30 Participants
n=346 Participants
|
118 Participants
n=1097 Participants
|
|
Type of anomaly
Fetal growth restriction < 5th percentile
|
65 Participants
n=751 Participants
|
26 Participants
n=346 Participants
|
91 Participants
n=1097 Participants
|
|
Type of anomaly
Gastro-intestinal tract
|
90 Participants
n=751 Participants
|
46 Participants
n=346 Participants
|
136 Participants
n=1097 Participants
|
|
Type of anomaly
Genitourinary
|
152 Participants
n=751 Participants
|
65 Participants
n=346 Participants
|
217 Participants
n=1097 Participants
|
|
Type of anomaly
NT ≥ 3.5 mm to < 4.5 mm without evidence of cystic hygroma
|
31 Participants
n=751 Participants
|
3 Participants
n=346 Participants
|
34 Participants
n=1097 Participants
|
|
Type of anomaly
Osteoarticular
|
164 Participants
n=751 Participants
|
69 Participants
n=346 Participants
|
233 Participants
n=1097 Participants
|
|
Type of anomaly
Intrathoracic
|
66 Participants
n=751 Participants
|
44 Participants
n=346 Participants
|
110 Participants
n=1097 Participants
|
PRIMARY outcome
Timeframe: At end of study, approx 4 yearsPopulation: Only participants in the sequenced group were analyzed for this outcome.
Reportable variants: defined as either Pathogenic / Likely pathogenic (P/LP) or variant of uncertain significance (VUS) identified by sequencing and deemed reportable by the Variant Adjudication Committee.
Outcome measures
| Measure |
Prenatally Sequenced Group
n=751 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Number of Participants Who Had Reportable Variants
P/LP
|
114 Participants
|
—
|
|
Number of Participants Who Had Reportable Variants
VUS
|
22 Participants
|
—
|
PRIMARY outcome
Timeframe: From time of diagnosis of anomaly to infant dischargeHealthcare costs from time of diagnosis of anomaly to infant discharge between sequenced and unsequenced groups.
Outcome measures
| Measure |
Prenatally Sequenced Group
n=444 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
n=312 Participants
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Healthcare Costs
|
149985 US dollars
Standard Deviation 375687
|
165192 US dollars
Standard Deviation 350000
|
SECONDARY outcome
Timeframe: At time of deliveryGestational age of newborn at delivery (in weeks)
Outcome measures
| Measure |
Prenatally Sequenced Group
n=751 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
n=346 Participants
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Gestational Age at Delivery
|
37.4 weeks
Interval 35.0 to 39.0
|
38.0 weeks
Interval 36.9 to 39.0
|
SECONDARY outcome
Timeframe: Up to 28 days after birthNeonatal outcomes will be compared and outcomes will be measured by the number of newborns who experience: need for ventilator support, sepsis, need for pressor support, need for extracorporeal membrane oxygenation (ECMO), metabolic abnormalities (e.g., acidosis, elevated uric acid, hypo-/hyperglycemia), intraventricular hemorrhage, periventricular leukomalacia, encephalopathy, and seizure.
Outcome measures
| Measure |
Prenatally Sequenced Group
n=751 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
n=346 Participants
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Neonatal Outcomes
Mechanical ventilation
|
222 Participants
|
151 Participants
|
|
Neonatal Outcomes
ECMO
|
24 Participants
|
19 Participants
|
|
Neonatal Outcomes
Pressor support
|
89 Participants
|
69 Participants
|
|
Neonatal Outcomes
Sepsis
|
92 Participants
|
66 Participants
|
|
Neonatal Outcomes
Metabolic abnormalities
|
192 Participants
|
91 Participants
|
|
Neonatal Outcomes
Intraventricular hemorrhage
|
42 Participants
|
33 Participants
|
|
Neonatal Outcomes
Periventricular leukomalacia
|
5 Participants
|
4 Participants
|
|
Neonatal Outcomes
Encephalopathy
|
24 Participants
|
8 Participants
|
|
Neonatal Outcomes
Seizure
|
20 Participants
|
16 Participants
|
SECONDARY outcome
Timeframe: From discharge to 12 months postpartumNeonatal/infant death at time of discharge and at 12 months of age.
Outcome measures
| Measure |
Prenatally Sequenced Group
n=751 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
n=346 Participants
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Number of Deaths
|
75 deaths
|
37 deaths
|
SECONDARY outcome
Timeframe: From discharge to 12 months postpartumLength of initial NICU stay and number of days spent in the hospital between initial discharge and 12 months of age.
Outcome measures
| Measure |
Prenatally Sequenced Group
n=751 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
n=346 Participants
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
NICU Stay Duration
|
6.0 days
Interval 0.0 to 29.0
|
11.0 days
Interval 1.0 to 35.0
|
SECONDARY outcome
Timeframe: 12 months postpartumPopulation: Data was collected from participants who had a follow-up visit at 12 months postpartum.
Infant length at 12 months of age.
Outcome measures
| Measure |
Prenatally Sequenced Group
n=202 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
n=50 Participants
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Length in Centimeters
|
73.7 cm
Standard Deviation 6.3
|
73.6 cm
Standard Deviation 6.1
|
SECONDARY outcome
Timeframe: 12 months postpartumPopulation: Data was collected from participants who had a follow-up visit at 12 months postpartum.
Infant weight at 12 months of age.
Outcome measures
| Measure |
Prenatally Sequenced Group
n=230 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
n=57 Participants
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Weight in Kilograms
|
9.3 kg
Standard Deviation 1.5
|
9.6 kg
Standard Deviation 1.3
|
SECONDARY outcome
Timeframe: 12 months postpartumPopulation: Only includes participants who completed the follow-up questionnaire
Developmental outcomes defined by the following parameters: communication, gross motor, fine motor, problem solving and personal-social, at 12 months of age using ASQ-3. Lower scores are associated with developmental delay. For each developmental area, parents may answer YES=10, SOMETIMES=5, or NOT YET=0 by filling in a bubble for each item response. The full score range for each domain is 0 to 60. Cutoffs for each domain are: Communication 15.64, Gross Motor 21.49, Fine Motor 34.5, Problem Solving 27.32, Personal-Social 21.73
Outcome measures
| Measure |
Prenatally Sequenced Group
n=152 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
n=38 Participants
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Score on Development by Ages and Stages Questionnaire (ASQ-3)
Communication
|
45 score on a scale
Interval 30.0 to 55.0
|
45 score on a scale
Interval 30.0 to 55.0
|
|
Score on Development by Ages and Stages Questionnaire (ASQ-3)
Gross motor
|
40 score on a scale
Interval 15.0 to 60.0
|
43 score on a scale
Interval 10.0 to 60.0
|
|
Score on Development by Ages and Stages Questionnaire (ASQ-3)
Fine motor
|
50 score on a scale
Interval 40.0 to 55.0
|
48 score on a scale
Interval 35.0 to 55.0
|
|
Score on Development by Ages and Stages Questionnaire (ASQ-3)
Problem solving
|
50 score on a scale
Interval 35.0 to 55.0
|
45 score on a scale
Interval 35.0 to 55.0
|
|
Score on Development by Ages and Stages Questionnaire (ASQ-3)
Personal-social
|
45 score on a scale
Interval 35.0 to 55.0
|
50 score on a scale
Interval 35.0 to 55.0
|
SECONDARY outcome
Timeframe: 2 weeks after disclosure of study sequencing results or 4 weeks after enrollment for the unsequenced group; 1 month after discharge from the hospital or end of the pregnancy if there was a fetal demise or pregnancy termination; 12-15 months postpartumPopulation: Only includes participants who completed the questionnaire
Anxiety following result disclosure (or 8 weeks post enrollment for the unsequenced group), neonatal discharge and 12 months postpartum. The full score range is 0 to 21, where lower numbers represent lower anxiety (better outcome).
Outcome measures
| Measure |
Prenatally Sequenced Group
n=672 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
n=143 Participants
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Anxiety by Self-report Questionnaire
2 weeks after disclosure of sequencing results or 4 weeks after enrollment for the unsequenced group
|
2.0 score on a scale
Interval 1.0 to 5.5
|
3.0 score on a scale
Interval 1.0 to 6.5
|
|
Anxiety by Self-report Questionnaire
1 month after discharge from the hospital or end of the pregnancy
|
2.0 score on a scale
Interval 1.0 to 6.0
|
3.0 score on a scale
Interval 1.0 to 5.0
|
|
Anxiety by Self-report Questionnaire
12-15 months postpartum
|
2.0 score on a scale
Interval 0.0 to 5.0
|
2.0 score on a scale
Interval 0.0 to 5.0
|
SECONDARY outcome
Timeframe: 2 weeks after disclosure of study sequencing results or 4 weeks after enrollment for the unsequenced group; 1 month after discharge from the hospital or end of the pregnancy if there was a fetal demise or pregnancy termination; 12-15 months postpartumPopulation: Only includes participants who completed the questionnaire
Depression following result disclosure (or 8 weeks post enrollment for the unsequenced group), neonatal discharge and 12 months postpartum. The full score range is 0 to 24, where a lower score represents lower depression (better outcome).
Outcome measures
| Measure |
Prenatally Sequenced Group
n=674 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
n=142 Participants
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Depression by Self-report Questionnaire
2 weeks after disclosure of sequencing results or 4 weeks after enrollment for the unsequenced group
|
4.0 score on a scale
Interval 1.0 to 8.0
|
5.0 score on a scale
Interval 2.0 to 9.0
|
|
Depression by Self-report Questionnaire
1 month after discharge from the hospital or end of the pregnancy
|
4.0 score on a scale
Interval 1.0 to 7.0
|
4.0 score on a scale
Interval 1.0 to 8.0
|
|
Depression by Self-report Questionnaire
12-15 months postpartum
|
3.0 score on a scale
Interval 1.0 to 7.0
|
3.5 score on a scale
Interval 1.0 to 7.0
|
SECONDARY outcome
Timeframe: Approximately 4.5 yearsQuality of life for the patient and family at 12 months postpartum.
Outcome measures
Outcome data not reported
SECONDARY outcome
Timeframe: Approximately 4.5 yearsIncremental cost per Quality Adjusted Life Year (QALY).
Outcome measures
Outcome data not reported
SECONDARY outcome
Timeframe: 12 months postpartumPopulation: This outcome was only intended to be measured in participants in the Sequenced arm, as outlined in the study protocol. Data for this outcome was not collected from any participant in the Unsequenced arm.
Phenotypic Expansion: Apparent prenatal phenotypic expansion from currently defined pediatric phenotypes.
Outcome measures
| Measure |
Prenatally Sequenced Group
n=751 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Total Number of Identified Phenotypes Associated With Disease- Sequenced Group ONLY
|
22 phenotypes
|
—
|
SECONDARY outcome
Timeframe: 12 months postpartumVariants of uncertain significance (VUS) that have not yet been associated with this disease phenotype. This outcome was only intended to be measured in participants in the Sequenced arm, as outlined in the study protocol. Data for this outcome was not collected from any participant in the Unsequenced arm.
Outcome measures
| Measure |
Prenatally Sequenced Group
n=751 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Number of Participants With VUS - Sequenced Group ONLY
|
7 Participants
|
—
|
SECONDARY outcome
Timeframe: 12 months postpartumVUS subclassified as compelling variants in novel genes that are not yet disease associated (genes of uncertain clinical significance; GUS). This outcome was only intended to be measured in participants in the Sequenced arm, as outlined in the study protocol. Data for this outcome was not collected from any participant in the Unsequenced arm.
Outcome measures
| Measure |
Prenatally Sequenced Group
n=751 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Number of Participants With Variants Classified as GUS - Sequenced Group ONLY
|
0 Participants
|
—
|
SECONDARY outcome
Timeframe: Approximately 4.5 yearsPathogenic, likely pathogenic and VUS variants identified by sequencing (coding and non-coding regions) compared with coding regions only (digital WES).
Outcome measures
Outcome data not reported
SECONDARY outcome
Timeframe: Approximately 4.5 yearsPathogenic, likely pathogenic and VUS variants identified by analysis of a proband alone compared to a proband-parent trio.
Outcome measures
Outcome data not reported
SECONDARY outcome
Timeframe: From delivery until discharge or death (neonatal)Number of participants who had a change in management decisions attributable to genomic results, defined as changes to the patient's treatment plan or changes to the counseling of the patient/family regarding the immediate or long-term medical management. This outcome was only intended to be measured in participants in the Sequenced arm, as outlined in the study protocol. Data for this outcome was not collected from any participant in the Unsequenced arm.
Outcome measures
| Measure |
Prenatally Sequenced Group
n=751 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Change in Management (Healthcare) as Determined by NICU Physician and Record Review - Sequenced Group ONLY
|
72 Participants
|
—
|
SECONDARY outcome
Timeframe: At sequencing completion, approximately 4.5 yearsPopulation: Only includes participants in the sequenced group who completed the questionnaire
Assessment of educational/counseling and social support needs of the mother and father. The full score range is 12 to 60, where a higher score represents a higher satisfaction with the experience (better outcome).
Outcome measures
| Measure |
Prenatally Sequenced Group
n=63 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
n=428 Participants
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Parental Support Needs by Self-report Questionnaire - Sequenced Group ONLY
|
56 score on a scale
Interval 52.0 to 58.0
|
56 score on a scale
Interval 51.0 to 60.0
|
SECONDARY outcome
Timeframe: At sequencing completion, approximately 4.5 yearsPopulation: Only includes participants in the sequenced group who completed the questionnaire
Accuracy of parental understanding of genetic test results. The parental responses to the question "How well do you understand your prenatal genetic test results?" will be collected. All possible responses are: "Not at all", "A little bit", "Moderately", "Quite a bit", and "Extremely"
Outcome measures
| Measure |
Prenatally Sequenced Group
n=67 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
n=458 Participants
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Parental Understanding by Self-report Questionnaire - Sequenced Group ONLY
Not at all
|
0 parental responses
|
3 parental responses
|
|
Parental Understanding by Self-report Questionnaire - Sequenced Group ONLY
A little bit
|
1 parental responses
|
22 parental responses
|
|
Parental Understanding by Self-report Questionnaire - Sequenced Group ONLY
Moderately
|
5 parental responses
|
83 parental responses
|
|
Parental Understanding by Self-report Questionnaire - Sequenced Group ONLY
Quite a bit
|
43 parental responses
|
205 parental responses
|
|
Parental Understanding by Self-report Questionnaire - Sequenced Group ONLY
Extremely
|
18 parental responses
|
145 parental responses
|
SECONDARY outcome
Timeframe: From sequencing completion to data analysis period, up to 4.5 yearsReinterpretations of sequencing results that lead to a change in classification of sequencing variants. This outcome was only intended to be measured in participants in the Sequenced arm, as outlined in the study protocol. Data for this outcome was not collected from any participant in the Unsequenced arm.
Outcome measures
| Measure |
Prenatally Sequenced Group
n=751 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Number of Participants Who Had a Change in the Sequencing Result - Sequenced Group ONLY
|
7 Participants
|
—
|
SECONDARY outcome
Timeframe: Time from sequencing initiation until study site result, up to 38 daysTurnaround time of sequencing components and how it changes over time. This outcome was only intended to be measured in participants in the Sequenced arm, as outlined in the study protocol. Data for this outcome was not collected from any participant in the Unsequenced arm.
Outcome measures
| Measure |
Prenatally Sequenced Group
n=751 Participants
Pregnancies with fetal structural anomalies will undergo prenatal genomic sequencing.
|
No Prenatal Sequencing (Unsequenced) Group
Pregnancies will not have any prenatal genomic sequencing.
|
|---|---|---|
|
Turnaround Time - Sequenced Group ONLY
|
11.5 days
Standard Deviation 5.4
|
—
|
Adverse Events
Prenatally Sequenced Group
No Prenatal Sequencing (Unsequenced) Group
Serious adverse events
Adverse event data not reported
Other adverse events
Adverse event data not reported
Additional Information
Results disclosure agreements
- Principal investigator is a sponsor employee
- Publication restrictions are in place