Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial (PreNATUS)

Natera

Status: Terminated

Conditions: Trisomy 18; Trisomy 13; Aneuploidy; Trisomy 21

Treatments: Procedure: Blood Draw

Study type: Observational

Funder types: Other; Industry; NIH

Identifiers

NCT01545674

GSN012B

1R44HD062114 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

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.

Full 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.

Enrollment: 937 patients

Sex: Female

Volunteers: Accepts Healthy Volunteers

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

Trial design

937 participants in 1 patient group

Pregnant Women Blood Draw

Description:

Pregnant Women with elevated risk of trisomic pregnancy to donate a blood sample through one time blood draw

Treatment:

Procedure: Blood Draw