High Risk Multiple Gestation Study

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.

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Key information

Conditions

Trisomy 13 Abnormalities, Multiple Cardiovascular Abnormalities Cardiovascular Diseases Chromosome Aberrations Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disorders of Sex Development Down Syndrome Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Gonadal Disorders Gonadal Dysgenesis Heart Defects, Congenital Heart Diseases Intellectual Disability Male Urogenital Diseases Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Pathologic Processes Pathological Conditions, Signs and Symptoms Sex Chromosome Aberrations Sex Chromosome Abnormalities Sex Chromosome Disorders Sex Chromosome Disorders of Sex Development Trisomy 13 Syndrome Trisomy 18 Trisomy 18 Syndrome Trisomy 21 Turner Syndrome Urogenital Abnormalities Urogenital Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Tufts Medical Center, Boston, Massachusetts, United States

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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.'

Time frame: 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.

Sponsors and collaborators

Lead sponsor

Natera, Inc.

Industry

Collaborators

Long Island Jewish Medical Center
MOUNT SINAI HOSPITAL
Montefiore Medical Center
Tufts Medical Center

Registry information

Official study title

Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood

Important dates

Study start: 2014
Primary completion: 2018
Study completion: 2019
First posted: Oct 30, 2014
Registry last updated: Jun 13, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed