Pregnant Individuals Requesting Standard Microarray
Conditions
Brief summary
This cohort study will examine the clinical utility of genomic sequencing (GS) in patients undergoing prenatal diagnostic procedures (chorionic villus sampling or amniocentesis) for routine indications other than a structural fetal anomaly.
Detailed description
Individuals who request prenatal diagnostic testing with standard chromosomal microarray will be offered GS as an option to assess for additional disease risk. The GS will be limited to evaluation of single gene disorders on a curated gene list developed by our multidisciplinary team of experts. This will include only pathogenic or likely pathogenic variants in genes associated with conditions with a well-defined phenotype that may include cognitive impairment or debilitating health conditions in childhood and/or conditions that will impact maternal, fetal, neonatal, or early childhood health management with significant perinatal or pediatric morbidity or mortality. GS test results will be reported to the research participant by a clinical geneticist or genetic counselor with expertise in exome sequencing. Participants may use this information for pregnancy management including termination of pregnancy. Participants will be offered analysis for secondary findings, as recommended by the American College of Medical Genetics and Genomics. Analysis and reporting of GS will be performed by the UCSF CLIA-certified Genomic Medicine Laboratory. Blood or saliva samples will be collected on both parents to allow trio GS to determine inheritance of any potentially significant fetal variants. The project is exploratory in nature, with a goal of contributing to a growing body of evidence regarding the clinical utility of GS in the prenatal population.
Interventions
DEVICEGenomic Sequencing
Individuals who request prenatal diagnostic testing with standard chromosomal microarray will be offered genomic sequencing (GS) as an option to assess for additional disease risk.
Sponsors
University of California, San Francisco
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 64 Years
Healthy volunteers
Yes
Inclusion criteria
Pregnant patients who are: * Pregnant with a structurally normal fetus (singleton or multiple gestation) * Planning to undergo prenatal diagnosis by either chorionic villus sampling or amniocentesis with chromosome microarray analysis for routine indications * Planning, or have already completed expanded carrier screening
Exclusion criteria
Pregnant patients who: * Decline prenatal diagnostic testing * Are pregnant and their fetus has a known anomaly * Declined chromosomal microarray analysis of expanded carrier screening
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Detection of pathogenic or likely pathogenic variants with genomic sequencing | Up to 2 months after enrollment | Proportion of positive genetic diagnosis among all pregnancies with anatomically normal fetuses |
Countries
United States
Contacts
CONTACTNuriye Sahin Hodoglugil, DrPH
PRINCIPAL_INVESTIGATORMary Norton, MD
University of California, San Francisco
Outcome results
None listed