ClinicalTrials.gg
CompletedNCT02201862NICHEUpdated Apr 30, 2020

Non-Invasive Chromosomal Evaluation of Trisomy Study

An observational study in Aneuploidy, Trisomy 21 and Trisomy 18, sponsored by Cindy Cisneros. Completed at 3 sites in United States. Open to female participants aged 18 Years to 60 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2020-04-30.

Primary conditionTrisomyRegistry: AneuploidyReclassifiedWhy we changed it
Registry
Aneuploidy — the first condition term the registry derived for this study.
ClinicalTrials.gg
Trisomy
Why
  1. The study's listed conditions name Trisomy, a narrower term within Aneuploidy.
Confidence
High: the new condition is named in the study's own listed conditions. Of 351 hand-checked studies reclassified this way, 68% were exactly right and 84% in the right disease family; the registry's first term was right for 5% (measured 2026-10-21). How we classify →
Wrong?
Tell us the study's main condition →

Sponsored by Cindy Cisneros · Observational

Study type
Observational
Model
Case-control
Time perspective
Prospective
Enrollment
2,000
Ages
18 Years to 60 Years
Sex
Female
01

Study summary

This study is being conducted to provide clinically annotated samples to support continued improvements in the Ariosa Test content, methodology, specimen processing and quality control.

02

Conditions studied

  • Aneuploidy
  • Trisomy 21
  • Trisomy 18
  • Trisomy 13
  • Down Syndrome

Keywords

  • Aneuploidy
  • Down Syndrome
  • amniocentesis
  • chronic villus sampling
  • Trisomy
  • non-invasive prenatal testing
  • Chromosome disorders
03

In context

Trisomy Reclassified

9 studies on the registry are indexed under Trisomy; 2 are open to participants now.

Browse Trisomy studies →

Lead sponsor

Cindy Cisneros is the lead sponsor of 4 studies on the registry; none are open to participants now.

Compared within Trisomy, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Aneuploidy. The counts are of registry records indexed under each term, refreshed daily. How we classify →

04

Who can participate

Ages eligible
18 Years to 60 Years
Sexes eligible
Female
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

Study population

Pregnant women planning to undergo chorionic villus sampling (CVS) and/or amniocentesis for the purpose of genetic evaluation of the fetus.

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

    1. Subject is at least 18 years old and can provide ;
    1. Subject has a viable singleton or twin pregnancy;
    1. Subject is confirmed to be at least 10 weeks, 0 days gestation at the time of the study blood draw;
    1. Subject is planning to undergo CVS and/or amniocentesis for the purpose of genetic analysis of the fetus OR the subject has already undergone CVS and/or amniocentesis and is known to have a fetus with a chromosomal abnormality confirmed by genetic analysis.

Exclusion criteria

Exclusion Criteria:

    1. Subject has known aneuploidy;
    1. Subject is pregnant with more than two fetuses or has had sonographic evidence of three or more gestational sacs at any time during pregnancy;
    1. Subject has a fetal demise (including natural or elective reduction) identified prior to consent;
    1. Subject has history of treated with chemotherapy and/or major surgery, or bone marrow transplant;
Terms in these criteria, in plain language(2)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

Cancer (malignancy)

Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.

Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.

05

Study design

Observational model
Case-control
Time perspective
Prospective
Enrollment
2,000 participants (actual)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • Euploid Subjects

    Subject's with fetal euploidy confirmed by chromosome analysis

  • Aneuploid Subjects

    Subject's with fetal aneuploidy confirmed by chromosome analysis

06

What researchers measure

Primary outcomes

  1. Detection of aneuploidy

    Time frame: 24 months

07

Study locations

3 sites
  • University California San Diego
    San Diego, California, United States
  • Women's Healthcare Group of PA
    Oaks, Pennsylvania 19456, United States
  • Regional Obestrical Consultants
    Chattanooga, Tennessee 37403, United States
08

References and documents

Publications

  • Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, Rodriguez MH, Williams J 3rd, Mitchell ME, Adair CD, Lee H, Jacobsson B, Tomlinson MW, Oepkes D, Hollemon D, Sparks AB, Oliphant A, Song K. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8. doi: 10.1016/j.ajog.2012.05.021. Epub 2012 Jun 1. PubMed 22742782 ↗
09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Apr 30, 2020, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT02201862
Lead sponsor
Cindy Cisneros
Responsible party
Cindy Cisneros (CRA, Roche Sequencing Solutions) — Sponsor-investigator
First posted
Jul 28, 2014
Start date
Apr 2014
Primary completion
Aug 1, 2019
Completion
Aug 1, 2019
Last update
Apr 30, 2020

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Apr 2020. You cannot join it, but the record below documents what was studied.

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Discussion

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