Trial Outcomes & Findings for Clinical Utility of Prenatal Whole Exome Sequencing (NCT NCT03482141)

Last Updated: 2023-04-14

Results Overview

Number of prenatal patients (pregnancies with a structural anomaly) who got a positive exome result among those who had the exome test. Positive exome result is defined as identification of definitive or probable positive variants which explain prenatal phenotype.

Recruitment status

COMPLETED

Study phase

Target enrollment

316 participants

Primary outcome timeframe

Follow-up was done 6 months after return of exome results.

Results posted on

2023-04-14

Participant Flow

We recruited prenatal patients to this study and completed exome sequencing with 316 cases.

This is an exploratory study to define the diagnostic yield of exome sequencing in a prenatal population. All participants were offered the same test and received the same study procedures. There are no arms in this study.

Participant milestones

Participant milestones
Measure	Whole Exome Sequencing Whole exome sequencing (WES) will take place for all enrolled patients. The Investigators will enroll pregnant women with fetal anomalies detected by ultrasound. Patients will be approached by a maternal-fetal specialist, who has counseled the patient regarding the fetal anomaly that has been detected. Written informed consent will be obtained by the study prenatal genetic counselor. Many patients will have undergone prenatal diagnostic testing in an outside laboratory; in such cases, cells or extracted DNA from the original fetal sample will be used for the purpose of this study. The consent process for prenatal WES will include pre-test counseling and the option of choosing whether or not to receive uncertain results and secondary findings. After conducting whole exome sequencing, the findings will be shared with the parent(s). Routine medical care will be provided to patients. The research will study the diagnostic yield of exome sequencing in the prenatal setting for pregnancies with structural anomaly.
Overall Study STARTED	316
Overall Study COMPLETED	316
Overall Study NOT COMPLETED	0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

Clinical Utility of Prenatal Whole Exome Sequencing

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Pregnant Individuals With Fetal Structural Anomalies Were Enrolled, and Followed the Same Procedures n=316 Participants Please note that this is an exploratory study with the outcome of diagnostic yield of exome sequencing in prenatal population and there are no arms. All participants received the same test (exome), and followed the same procedures. Whole Exome Sequencing (WES): The Investigators will enroll pregnant women with fetal anomalies detected by ultrasound. Patients will be approached by a maternal-fetal specialist, who has counseled the patient regarding the fetal anomaly that has been detected. Written informed consent will be obtained by the study prenatal genetic counselor. Many patients will have undergone prenatal diagnostic testing in an outside laboratory; in such cases, cells or extracted DNA from the original fetal sample will be used for the purpose of this study. The consent process for prenatal WES will include pre-test counseling and the option of choosing whether or not to receive uncertain results and secondary findings. After conducting whole exome sequencing, the findings will be shared with the parent(s). Routine medical care will be provided to patients. The research will study the diagnostic yield of exome sequencing as a tool for providing genetic information to parents when a prenatal study reveals a fetus with a structural anomaly.
Age, Categorical <=18 years	0 Participants n=5 Participants
Age, Categorical Between 18 and 65 years	316 Participants n=5 Participants
Age, Categorical >=65 years	0 Participants n=5 Participants
Sex: Female, Male Female	316 Participants n=5 Participants
Sex: Female, Male Male	0 Participants n=5 Participants
Race/Ethnicity, Customized American Indian, Native American, Alaska Native	0 Participants n=5 Participants
Race/Ethnicity, Customized Asian	49 Participants n=5 Participants
Race/Ethnicity, Customized Black/African American	3 Participants n=5 Participants
Race/Ethnicity, Customized Native Hawaiian/Pacific Islander	0 Participants n=5 Participants
Race/Ethnicity, Customized White/European American	115 Participants n=5 Participants
Race/Ethnicity, Customized Middle Eastern or North African/Mediterranean	5 Participants n=5 Participants
Race/Ethnicity, Customized Hispanic/Latino(a)	49 Participants n=5 Participants
Race/Ethnicity, Customized More than one race/ethnicity	25 Participants n=5 Participants
Race/Ethnicity, Customized Unknown/none of the above	76 Participants n=5 Participants
Region of Enrollment United States	316 Participants n=5 Participants
Number of prenatal patients who consented for a diagnostic exome	316 Participants n=5 Participants

PRIMARY outcome

Timeframe: Follow-up was done 6 months after return of exome results.

Population: Pregnant individuals with fetal structural anomalies

Outcome measures

Outcome measures
Measure	Whole Exome Sequencing (WES) n=316 Participants Whole Exome Sequencing (WES): The Investigators will enroll pregnant women with fetal anomalies detected by ultrasound. Patients will be approached by a maternal-fetal specialist, who has counseled the patient regarding the fetal anomaly that has been detected. Written informed consent will be obtained by the study prenatal genetic counselor. Many patients will have undergone prenatal diagnostic testing in an outside laboratory; in such cases, cells or extracted DNA from the original fetal sample will be used for the purpose of this study. The consent process for prenatal WES will include pre-test counseling and the option of choosing whether or not to receive uncertain results and secondary findings. After conducting whole exome sequencing, the findings will be shared with the parent(s). Routine medical care will be provided to patients. The research will study diagnostic yield of exome sequencing in prenatal population as a tool for providing genetic information to parents when a prenatal study reveals a fetus with a structural anomaly.
Diagnostic Yield of Prenatal Exome in Patients With Fetal Structural Anomalies	60 Participants

Adverse Events

Pregnant Individuals With Fetal Structural Anomalies Were Enrolled, and Followed the Same Procedures

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Mary Norton

University of California, San Francisco

Phone: (415) 467 4080

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place