Non-invasive Chromosomal Examination of Trisomy Study

Non-invasive Chromosomal Examination of Trisomy

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01511458

Acronym

Enrollment

18955

Registered

2012-01-18

Start date

2012-03-31

Completion date

2014-05-31

Last updated

2014-07-14

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Trisomy 21

Keywords

Pregnancy, Fetal aneuploidy, Trisomy 21, Down Syndrome, Prenatal screening, Non-invasive prenatal testing, First trimester, Combined screening, Nuchal translucency, PAPP-A, hCG, cell free DNA, cf DNA, DNA, Performance characteristics of non-invasive first trimester screening, Harmony Prenatal Test

Brief summary

The purpose of this blinded, multi-center, prospective, case-controlled study is to compare the Ariosa Harmony™ Prenatal Test for trisomy 21 detection with a standard first-trimester prenatal screening test consisting of serum screening (PAPP-A,free beta-hCG \[β-hCG\] or total hCG) and a nuchal translucency (NT) measurement (i.e. combined first trimester screening) in a general screened population. The performance characteristics of these two test modalities will be assessed relative to the clinical reference standard of genetic analysis of the fetus or phenotypic characterization and genetic analysis of the newborn.

Interventions

None listed

Study design

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

FEMALE

Age

18 Years to 60 Years

Healthy volunteers

Inclusion criteria

1. Subject is at least 18 years old and can provide informed consent. 2. Subject is planning a hospital delivery. 3. Subject has a singleton pregnancy with a documented gestational age between 10 weeks, 0 days, and 14 weeks, 2 days, inclusive, at the time of the study blood sample collection. 4. Subject is planning to undergo combined first trimester prenatal screening that includes NT measurement, and when indicated, serum screening with total or free β-hCG and PAPP-A.

Exclusion criteria

1. Subject has known aneuploidy. 2. Subject has active or history of malignancy requiring major surgery and/or systemic chemotherapy. 3. Subject has a twin demise at any gestational age. Twin demise includes any reductions, spontaneous or elective, after sonographic identification of a second (or more) gestational sac. Any clinical, sonographic, or other testing that suggests twin demise would serve as an exclusion criterion.

Design outcomes

Primary

Measure	Time frame
Difference in sensitivity and specificity of Ariosa Harmony™ Prenatal Test (AUCt) and combined first-trimester screening for detection of T21.	Enrollment to delivery

Countries

Belgium, Canada, Italy, Netherlands, Sweden, United States

Outcome results