for people ages 18-64 (full criteria)
Healthy Volunteers
healthy people welcome
study started
completion around
Principal Investigator
by Mary Norton, MD (ucsf)
Headshot of Mary Norton
Mary Norton



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.


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.


Pregnant Individuals Requesting Standard Microarray, Genomic Sequencing


You can join if…

Open to people ages 18-64

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

You CAN'T join if...

Pregnant patients who:

  • Decline prenatal diagnostic testing
  • Are pregnant and their fetus has a known anomaly
  • Declined chromosomal microarray analysis of expanded carrier screening


  • University of California, San Francisco accepting new patients
    San Francisco California 94143 United States

Lead Scientist at University of California Health

  • Mary Norton, MD (ucsf)
    Mary E. Norton is a perinatologist and clinical geneticist at UCSF Medical Center's Prenatal Diagnostic Center. She primarily cares for pregnant women who have a fetus with a birth defect or genetic disorder or are at risk for such a condition.


accepting new patients
Start Date
Completion Date
University of California, San Francisco
Study Type
Expecting 1000 study participants
Last Updated