High Risk Multiple Gestation Study

Completed

• Conditions: Trisomy 21; Sex Chromosome Abnormalities; Trisomy 13; Trisomy 18

• Registration Number: NCT02278874
• Lead Sponsor: 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 Chorionic Villus Sample (CVS) procedures, which are associated with a risk of miscarriage.

Detailed Description

Not available

Study Timeline

• Study Start: 2014-08
• Study First Submitted: 2014-08-27
• Study First Submitted QC: 2014-10-28
• Study First Posted: 2014-10-30
• Primary Completion: 2018-12-01
• Study Completion: 2019-03
• Status Verified: 2019-06
• Last Update Submitted: 2019-06-11
• Last Update Posted: 2019-06-13

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 99

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
    • Holoprosencephaly
    • 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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Screening capability of proprietary algorithm in the form of a risk results classified as positive result for aneuploidy, negative result for aneuploidy or 'no call.'	4 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.

Trial Locations

Locations (4)

Long Island Jewish Medical Center; 🇺🇸 Glen Cove, New York, United States

Mt. Sinai Hospital; 🇺🇸 New York, New York, United States

Tufts Medical Center; 🇺🇸 Boston, Massachusetts, United States

Montefiore Medical Center; 🇺🇸 Bronx, New York, United States