Trials Sponsors Conditions Drugs Pricing

Conditions

Cardiac Anomalies Central Nervous System Anomalies Gastrointestinal Anomalies Genito-urinary Anomalies Multiple Anomalies Skeletal Anomalies Structural Anomalies Thorax Anomalies

Outcome Measures

Primary Outcomes (1)

Diagnostic Yield of Prenatal Exome in Patients With Fetal Structural Anomalies
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.
Follow-up was done 6 months after return of exome results.

Study Arms (1)

Whole Exome Sequencing

OTHER

Whole exome sequencing (WES) will take place for prenatal patients (pregnancies with fetal structural defects). All patients will get exome sequencing and will follow the same procedures.

Device: Whole Exome Sequencing (WES)

Interventions

Whole Exome Sequencing (WES)Device

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 effectiveness of sequencing as a tool for providing genetic information to parents when a prenatal study reveals a fetus with a structural anomaly.

Whole Exome Sequencing

Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.

Eligibility Criteria

Age18 Years - 64 Years

Sexfemale

Healthy VolunteersNo

Age GroupsAdult (18-64)

You may qualify if:

Women carrying a pregnancy with an ultrasound diagnosis of a major structural anomaly (or multiple anomalies) in a major organ system (cardiac, central nervous system, thorax, genito-urinary, gastrointestinal/ventral wall, skeletal and or multiple anomalies )
Clinical concern for a potential underlying genetic condition

Sponsors & Collaborators

University of California, San Francisco
Otherlead

Study Sites (1)

University of California San Francisco

San Francisco, California, 94143, United States

Related Publications (6)

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.
PMID: 24088041BACKGROUND
Norton ME, Rink BD. Changing indications for invasive testing in an era of improved screening. Semin Perinatol. 2016 Feb;40(1):56-66. doi: 10.1053/j.semperi.2015.11.008. Epub 2015 Dec 24.
PMID: 26725145BACKGROUND

MeSH Terms

Conditions

Heart Defects, CongenitalAbnormalities, Multiple

Interventions

Exome Sequencing

Condition Hierarchy (Ancestors)

Cardiovascular AbnormalitiesCardiovascular DiseasesHeart DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Whole Genome SequencingSequence Analysis, DNASequence AnalysisGenetic Techniques

Results Point of Contact

Title: Mary Norton
Organization: University of California, San Francisco

Study Officials

Mary Norton, MD
University of California, San Francisco
PRINCIPAL INVESTIGATOR

Publication Agreements

PI is Sponsor Employee: Yes

Enrollment

316 participants (actual enrollment reported by the registry).

Study Design

Study Type: interventional
Phase: not applicable
Allocation: NA
Masking: NONE
Purpose: DIAGNOSTIC
Intervention Model: SINGLE GROUP
Sponsor Type: OTHER
Responsible Party: SPONSOR

Study Record Dates

First Submitted

March 16, 2018

First Posted

March 29, 2018

Study Start

August 1, 2017

Actual (reported)

Clinical Utility of Prenatal Whole Exome Sequencing

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Results Posted

Conditions

Outcome Measures

Primary Outcomes (1)

Study Arms (1)

Whole Exome Sequencing

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Related Publications (6)

MeSH Terms

Conditions

Interventions

Condition Hierarchy (Ancestors)

Intervention Hierarchy (Ancestors)

Results Point of Contact

Study Officials

Publication Agreements

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Documents

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Results Posted

Conditions

Outcome Measures

Primary Outcomes (1)

Study Arms (1)

Whole Exome Sequencing

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Related Publications (6)

MeSH Terms

Conditions

Interventions

Condition Hierarchy (Ancestors)

Intervention Hierarchy (Ancestors)

Results Point of Contact

Study Officials

Publication Agreements

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Documents

Locations