Sex Chromosome Abnormalities, Trisomy 13, Trisomy 18, Trisomy 21
Conditions
Keywords
Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities, Monosomy X, XXX, XXY, XYY
Brief summary
The objectives of the clinical study are to demonstrate the accuracy of our new NATUS diagnostic 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 any currently available screening tests. This will result in fewer unnecessary amniocenteses and CVS procedures, which are associated with a risk of miscarriage.
Interventions
None listed
Sponsors
Houston Perinatal Associates
Lyndhurst Clinical Research
Dr. Carpenter Maternal Fetal Medicine Clinic
San Diego Perinatal Center
Natera, Inc.
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Age 18 or older at enrollment * Clinically confirmed multiple gestation pregnancy * 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| The primary outcome will be to confirm the diagnostic capability of NATUS risk results classified as positive result for aneuploidy, negative result for aneuploidy or 'no call.' | 2 years | 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. |
Countries
India, Malaysia, United States
Outcome results
None listed