High Risk Multiple Gestation Study

Sponsor

Natera, Inc. (Industry)

Overall Status

Completed

CT.gov ID

NCT02278874

Collaborator

MOUNT SINAI HOSPITAL (Other), Montefiore Medical Center (Other), Long Island Jewish Medical Center (Other), Tufts Medical Center (Other)

Enrollment

Locations

Duration (Months)

24.8

Patients Per Site

0.5

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Trisomy 13 Trisomy 18 Trisomy 21 Sex Chromosome Abnormalities

Study Design

Study Type:

Observational

Actual Enrollment :

99 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 :

Aug 1, 2014

Actual Primary Completion Date :

Dec 1, 2018

Actual Study Completion Date :

Mar 1, 2019

Arms and Interventions

Arm	Intervention/Treatment
Multiple gestation high risk pregnancies women pregnant with twins or triplets at high risk for aneuploidy

Outcome Measures

Primary Outcome Measures

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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Tufts Medical Center	Boston	Massachusetts	United States	02111
2	Montefiore Medical Center	Bronx	New York	United States	10461
3	Long Island Jewish Medical Center	Glen Cove	New York	United States	11542
4	Mt. Sinai Hospital	New York	New York	United States	10029

Sponsors and Collaborators

Natera, Inc.
MOUNT SINAI HOSPITAL
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