Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood (MAPS)

Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood

The purpose of this study is to collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.

Study Overview

• Status: Completed
• Conditions: Trisomy 21; Trisomy 18; Trisomy 13; Sex Chromosome Abnormalities; Microdeletion Syndromes

Detailed Description

The goal of this study is to further develop a non-invasive prenatal blood test that can diagnose genetic disorders in the fetus by looking at fetal DNA (genetic material) found in the mother's bloodstream during pregnancy.

Women carrying a fetus diagnosed with microdeletions/microduplications (small missing or extra pieces of DNA that can cause problems), aneuploidy (trisomy 21, 18, or 13) or other genetic disorders will be asked to participate.

If this study is successful, it will reduce the need for invasive procedures during pregnancy such as amniocentesis and chorionic villus sampling (CVS) but still enable women to find out accurate information regarding their baby's health early in the pregnancy.

• Study Type: Observational
• Enrollment (Actual): 1059

Contacts and Locations

Study Locations

• Spain
  • Barcelona, Spain, 08035
    • Hospital Materno Infantil Vall d'Hebron
• Taiwan
  • Taipei, Taiwan, 10050
    • GenePhile Biosciences
• United States
  • California
    • San Carlos, California, United States, 94070
      • Natera, Inc.
    • San Gabriel, California, United States, 91776
      • MFM Group of Southern CA
  • District of Columbia
    • Washington, District of Columbia, United States, 20010
      • Washington Women's Wellness Center
  • New Jersey
    • New Brunswick, New Jersey, United States, 08901
      • Saint Peter's University Hospital
  • New York
    • New York, New York, United States, 10032
      • Columbia University
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • The Children's Hospital of Philadelphia
  • Texas
    • Houston, Texas, United States, 77054
      • Dr. Meltzer Clinic

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Pregnant women

Description

Inclusion Criteria:

• Age 18 or older at enrollment
• Gestation age of at least 9 weeks, 0 days by best obstetrical estimate
• One or more fetuses with a clinically confirmed diagnosis of a genetic variant of interest via karyotype, FISH, chromosomal microarray or other genetic assay AND/OR
• One or more fetuses with any variant of fetal structure that is expected to require medical or surgical intervention in the newborn period, shorten lifespan, affect intellectual development or otherwise indicate a genetic anomaly AND/OR
• Positive high risk noninvasive prenatal screening or serum screening result
• Able to provide informed consent

Exclusion Criteria:

•Maternal history of bone marrow or organ transplantation

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Pregnant Women; Women and their partners (presumed biological father of the fetus) who are currently pregnant and carrying a fetus that has been diagnosed with a microdeletion/duplication syndrome, aneuploidy or another genetic disorder (positive karyotype result or positive result on microarray test).

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Sensitivity and Specificity of testing	Sensitivity and Specificity of the test to diagnose microdeletions (eg. 22q and 5p-) and aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y.	1 year

Collaborators and Investigators

• Sponsor: Natera, Inc.
• Investigators: Principal Investigator: Zachary Demko, PhD, Natera, Inc.

Study record dates

Study Major Dates

• Study Start (Actual): November 1, 2012
• Primary Completion (Actual): October 1, 2020
• Study Completion (Actual): October 1, 2020

Study Registration Dates

• First Submitted: May 6, 2013
• First Submitted That Met QC Criteria: May 13, 2013
• First Posted (Estimate): May 14, 2013

Study Record Updates

• Last Update Posted (Actual): December 30, 2020
• Last Update Submitted That Met QC Criteria: December 28, 2020
• Last Verified: December 1, 2020

More Information

Terms related to this study

• Keywords: Down syndrome; 22q; 1p36; Angelman; Cri-du-chat; Prader-Willi; DiGeorge; Turner syndrome; Patau syndrome; Edwards syndrome
• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Heart Defects, Congenital; Cardiovascular Abnormalities; Abnormalities, Multiple; Aneuploidy; Chromosome Duplication; Syndrome; Down Syndrome; Chromosome Disorders; Chromosome Aberrations; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome; Sex Chromosome Aberrations
• Other Study ID Numbers: 12-014-NPT