Aneuploidy, Trisomy 13, Trisomy 18, Trisomy 21
Conditions
Keywords
Aneuploidy, Non-invasive Prenatal Diagnosis, Prenatal Blood Test, Prenatal Aneuploidy Screening, Trisomy 13, Trisomy 18, Trisomy 21, Trisomy, Down Syndrome, Turner Syndrome, Edwards Syndrome
Brief summary
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.
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.
Interventions
PROCEDUREBlood Draw
Blood will be drawn from the mother and father
Sponsors
Columbia University
George Washington University
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Natera, Inc.
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Sensitivity and Specificity of the test to diagnose aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y. | Between first trimester screening (10-14 weeks GA) and invasive testing (amniocentesis or CVS). | 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). |
Countries
Canada, Ireland, Italy, South Korea, Spain, United States
Outcome results
None listed