Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial (PreNATUS)

Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial (PreNATUS)

This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA in the maternal blood.

Study Overview

• Status: Terminated
• Conditions: Aneuploidy; Trisomy 21; Trisomy 18; Trisomy 13
• Intervention / Treatment: Procedure: Blood Draw

Detailed Description

First trimester screening is the current standard of care for pregnant women in the United States. Women with a high screening risk for trisomy then have invasive testing, which carries a risk of miscarriage, to definitively determine if the fetus has trisomy. Because of the high false negative rate of the first trimester screening, an unacceptable number of trisomic fetuses are not detected. Moreover, because of the high false positive rate, an unacceptable number of women undergo invasive follow up testing. Additional screening tests are needed that combine a high sensitivity, a low false positive rate, and minimal or no risk to the fetus.

• Study Type: Observational
• Enrollment (Actual): 937

Contacts and Locations

Study Locations

• Canada
  • Toronto, Canada
    • Mt Sinai Hospital
• Ireland
  • Dublin, Ireland
    • Royal College of Surgeons in Ireland
• Italy
  • Perugia, Italy
    • University Of Perugia
• Korea, Republic of
  • Seoul, Korea, Republic of
    • Hamchoon Women's Clinic
• Spain
  • Barcelona, Spain
    • Institut Universitari Dexeus
• United States
  • Alabama
    • Birmingham, Alabama, United States, 35233
      • University of Alabama
  • California
    • Los Angeles, California, United States, 90048
      • Cedars-Sinai Medical Center
    • San Francisco, California, United States, 94110
      • California Pacific Medical Center
    • Stanford, California, United States, 94305
      • Stanford University
  • Connecticut
    • New Haven, Connecticut, United States, 06510
      • Yale University
  • Florida
    • Miami, Florida, United States, 33136
      • University of Miami
  • Illinois
    • Hinsdale, Illinois, United States, 60521
      • Adventist Hinsdale Hospital
  • Indiana
    • Indianapolis, Indiana, United States, 46207
      • Indiana University
  • Massachusetts
    • Boston, Massachusetts, United States, 02111
      • Tufts Medical Center
    • Boston, Massachusetts, United States, 02111
      • Massachusetts General Hospital
  • New York
    • Brooklyn, New York, United States, 11215
      • NY Methodist Hospital
    • Mineola, New York, United States, 11501
      • Madonna Perinatal
    • New York, New York, United States, 10032
      • Columbia University
    • New York, New York, United States, 10016
      • New York University
    • New York, New York, United States, 10467
      • Montefiore Medical Center
    • New York, New York, United States, 10029
      • The Mount Sinai Hospital
    • New York, New York, United States, 10128
      • Carnegie Imaging for Women
  • North Carolina
    • Chapel Hill, North Carolina, United States, 27599
      • University of North Carolina
    • Charlotte, North Carolina, United States, 28232
      • Carolinas Medical Center
  • Oregon
    • Portland, Oregon, United States, 97239
      • Oregon Health and Science University
  • Pennsylvania
    • Allentown, Pennsylvania, United States, 18103
      • Lehigh Valley Hospital
  • South Carolina
    • Columbia, South Carolina, United States, 29203
      • University of South Carolina
  • Texas
    • Galveston, Texas, United States, 77555
      • University of Texas Medical Branch
  • Wisconsin
    • Madison, Wisconsin, United States, 53715
      • University of Wisconsin

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: Female

• Sampling Method: Non-Probability Sample

Study Population

Pregnant Women

Description

Inclusion Criteria:

1. Singleton pregnancy
2. Gestational age between 8 weeks 0 days and 23 weeks, 6 days by best obstetrical estimate
3. Mother has a high or moderate risk for trisomy
4. Mother is planning to have or has had an amniocentesis or chorionic villus sampling (CVS) procedure

Exclusion Criteria:

1. Unavailability of the father to provide a genetic sample (e.g. sperm donor, non-paternity)
2. Egg donor used
3. Mother or father have known chromosomal abnormalities (including known balanced translocations)
4. Participation in the study in a previous pregnancy
5. Pregnancy is a result of IVF with pre-implantation genetic diagnosis

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Pregnant Women Blood Draw; Pregnant Women with elevated risk of trisomic pregnancy to donate a blood sample through one time blood draw	Procedure: Blood Draw; Blood will be drawn from the mother and father

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Sensitivity and Specificity of the test to diagnose aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y.	The primary objective is to determine the diagnostic capability of the test to detect autosomal aneuploidy (chromosomes 13, 18, 21) and sex aneuploidy (X and Y).	Between first trimester screening (10-14 weeks GA) and invasive testing (amniocentesis or CVS).

Collaborators and Investigators

• Sponsor: Natera, Inc.
• Collaborators: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); Columbia University; George Washington University

Study record dates

Study Major Dates

• Study Start: January 1, 2012
• Primary Completion (Actual): April 1, 2014
• Study Completion (Actual): March 1, 2023

Study Registration Dates

• First Submitted: March 1, 2012
• First Submitted That Met QC Criteria: March 6, 2012
• First Posted (Estimate): March 7, 2012

Study Record Updates

• Last Update Posted (Actual): March 23, 2023
• Last Update Submitted That Met QC Criteria: March 21, 2023
• Last Verified: March 1, 2023

More Information

Terms related to this study

• Keywords: Down Syndrome; Turner Syndrome; Aneuploidy; Trisomy 21; Trisomy 13; Trisomy 18; Trisomy; Non-invasive Prenatal Diagnosis; Prenatal Blood Test; Prenatal Aneuploidy Screening; Edwards Syndrome
• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Heart Defects, Congenital; Cardiovascular Abnormalities; Abnormalities, Multiple; Chromosome Disorders; Chromosome Aberrations; Chromosome Duplication; Down Syndrome; Aneuploidy; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome
• Other Study ID Numbers: GSN012B; 1R44HD062114 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: A peer reviewed publication is planned from this study.