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High Risk Multiple Gestation Study

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ClinicalTrials.gov Identifier: NCT02278874
Recruitment Status : Recruiting
First Posted : October 30, 2014
Last Update Posted : April 14, 2017
Sponsor:
Collaborators:
Mount Sinai Hospital, New York
Montefiore Medical Center
Long Island Jewish Medical Center
Tufts Medical Center
Information provided by (Responsible Party):
Natera, Inc.

Brief Summary:

The objectives of the clinical study are to demonstrate the accuracy of our proprietary algorithm method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample. The long term goal of this study will be the development of a method of minimally invasive prenatal diagnosis that has a higher sensitivity and lower false positive rate in the intended population (e.g. multiple gestation pregnancies) than other currently available screening tests.

This will result in fewer unnecessary amniocenteses and CVS procedures, which are associated with a risk of miscarriage.


Condition or disease
Trisomy 13 Trisomy 18 Trisomy 21 Sex Chromosome Abnormalities

Study Type : Observational
Estimated Enrollment : 400 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood
Study Start Date : August 2014
Estimated Primary Completion Date : December 2018


Group/Cohort
Multiple gestation high risk pregnancies
women pregnant with twins or triplets at high risk for aneuploidy



Primary Outcome Measures :
  1. Screening capability of NATUS algorithm in the form of a risk results classified as positive result for aneuploidy, negative result for aneuploidy or 'no call.' [ Time Frame: 2 years ]

    The primary outcome will be to confirm the diagnostic capability of NATUS risk results (a risk score eg 1:100) classified as positive result for aneuploidy, negative result for aneuploidy or 'no call.' The outcome will be determined as a risk score given for samples collected. This outcome will be compared to the diagnostic testing results of ploidy status.

    The chromosomal status will be determined from the CVS or amniocentesis results, if available. A cheek swab or saliva sample will be collected from live-born children if there are no CVS or amniocentesis results. This will be used to determine the true ploidy status of the fetuses.



Biospecimen Retention:   Samples With DNA

Maternal and Paternal blood samples

CVS or Amniocentesis sample (optional)

Child saliva sample (optional)

*Biospecimen retention is optional portion of consent form



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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Pregnant Women
Criteria

Inclusion Criteria:

  • Age 18 or older at enrollment
  • Clinically confirmed multiple gestation pregnancy
  • Pregnancy at high risk for genetic aneuploidy as defined below:

    • Confirmed positive aneuploidy by invasive testing
    • Non invasive prenatal testing "high risk" result
    • Serum screening risk of greater than 1:100
    • Ultrasound abnormalities indicative of aneuploidy

      • Structural abnormality of the posterior fossa
      • Holoprosenencephaly
      • Structural cardiac anomaly
      • Omphalocele
      • Nuchal translucency greater than or equal to 3.5 mm or a nuchal fold greater Hydrops of unknown etiology
    • Age ≥ 38 years at delivery (if serum screening risk is not less than 1:100)
  • Gestational age between ≥ 9 weeks, 0 days and ≤26 weeks 0 days by best obstetrical estimate
  • Able to provide informed consent

Exclusion Criteria:

  • Women carrying singleton pregnancy
  • Surrogate or egg donor used

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02278874


Contacts
Contact: Melissa Schirmer 650-249-9090 ext 696 research@natera.com

Locations
United States, Massachusetts
Tufts Medical Center Recruiting
Boston, Massachusetts, United States, 02111
Contact: Vidya Iyer, MBBS    617-636-0186      
United States, New York
Montefiore Medical Center Recruiting
Bronx, New York, United States, 10461
Contact: Melissa Hudson    718-405-8214      
Principal Investigator: Peer Dar, MD         
Long Island Jewish Medical Center Recruiting
Glen Cove, New York, United States, 11542
Contact: Bernadette Smith    718-470-5563      
Principal Investigator: Rajeevi Madankumar, MD         
Mt. Sinai Hospital Recruiting
New York, New York, United States, 10029
Contact: Meredith Miller    212-241-3888      
Principal Investigator: Joanne Stone, MD         
Sponsors and Collaborators
Natera, Inc.
Mount Sinai Hospital, New York
Montefiore Medical Center
Long Island Jewish Medical Center
Tufts Medical Center
Investigators
Principal Investigator: Joanne Stone, MD Mt. Sinai Hospital, New York
Principal Investigator: Peer Dar, MD Montefiore Medical Center
Principal Investigator: Rajeevi Madankumar, MD Long Island Jewish Medical Center
Principal Investigator: Errol Norwitz, MD, PhD Tufts Medical Center

Additional Information:
Publications:

Responsible Party: Natera, Inc.
ClinicalTrials.gov Identifier: NCT02278874     History of Changes
Other Study ID Numbers: 13-016B-NPT
First Posted: October 30, 2014    Key Record Dates
Last Update Posted: April 14, 2017
Last Verified: April 2017

Keywords provided by Natera, Inc.:
Trisomy 13
Trisomy 18
Trisomy 21
Sex Chromosome Abnormalities
Monosomy X
XXX
XXY
XYY

Additional relevant MeSH terms:
Congenital Abnormalities
Trisomy
Down Syndrome
Chromosome Aberrations
Chromosome Disorders
Sex Chromosome Aberrations
Aneuploidy
Pathologic Processes
Chromosome Duplication
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Genetic Diseases, Inborn