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Clinical Studies


  • Clinical Utility of the Addition of a SNP-based NIPT Zygosity Determination in TWIN Pregnancy Management (ZTWINS) (ZTWINS) Rochester, Minn.

    The primary objective of the study is to assess the clinical utility of combining noninvasive prenatal testing (NIPT)-based zygosity measurements with ultrasound chorionicity assessments for the management of twin pregnancies, as measured by the following endpoints:  the overall frequency of NIPT-determined zygosity and monozygosity among twin pregnancies, the frequency of NIPT-determined zygosity rate among monochorionic and dichorionic twin pregnancies, and the proportion of twin pregnancies with twin-twin transfusion syndrome (TTTS) that are diagnosed late as compared with historical rates.

  • Identifying Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway in Patients with Congenital Malformations Rochester, Minn.

    The purpose of this study is to use Whole Exome Sequencing (WES) to identify genetic variants in patients and families who have received care for VACTERL syndrome or congenital malformations at the Mayo Clinic. Additionally, to perform RNA Sequencing and targeted metabolomics analysis to identify alterations in gene expression and metabolites associated with the NAD pathway.

  • Mayo Clinic Umbilical and Placental Tissues Biobank Rochester, Minn.

    The purpose of this study is to collect paired maternal and umbilical cord blood samples that can be processed for various traits in the blood, including serum, DNA, RNA and cells. The long term goal of this project is to start an Umbilical and Placental Tissues Biobank, which will operate in parallel to the Mayo Clinic Biobank. In future studies, we may use the serum, DNA and RNA obtained from cord blood and your blood to understand health and disease.

  • Sequencing for Families with Hereditary Disorders; Diagnostic Odyssey in the Perinatal Setting Rochester, Minn.

    The purpose of this project will examine the feasibility of offering whole genome sequencing (WGS), and developing a Rapid WGS protocol, for a fetus or neonate with multiple anomalies.

  • Verification of Risk Assignment for Whole Chromosome Aneuploidy using SNP-based NIPT in VaniSHing Twin Pregnancies (VANISH) (VANISH) Rochester, Minn.

    Panorama® is a commercially available Laboratory Developed Test (LDT) certified under the Clinical Laboratory Improvement Amendments (CLIA). This test has not been cleared or approved by the U.S. Food and Drug Administration (FDA). Panorama analyzes SNPs to distinguish maternal from fetal (placental) DNA, targeting 13,932 SNPs covering chromosomes 21, 18, 13, X and Y, to determine chromosomal abnormalities and fetal sex. Panorama is used in twin pregnancies to screen for a variety of abnormalities, including trisomies 21, 18 and 13, monosomy X zygosity and fetal sex for each twin.

    The primary objectives of this study are to use the Panorama® testing to:
    1) Develop a new algorithm and methodology that will distinguish between the non-viable or demised twin and the living twin in dizygotic twins with a single living twin..
    2) Assess the accuracy of the new algorithm to determine which of the signals in the Panorama samples correspond to the living twin versus the non-viable or demised twin. .