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RecruitingNCT01429389Updated Sep 9, 2026

Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy

An observational study in Down Syndrome and Fetal Aneuploidy, sponsored by Sequenom, Inc.. Recruiting at 14 sites in 2 countries. Open to female participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-09-09.

Sponsored by Sequenom, Inc. (part of Labcorp) · Observational

From the registry’s dates

  • Started May 2011; still recruiting 15 years 6 months later.
Study type
Observational
Model
Case-only
Time perspective
Prospective
Enrollment
2,000
Ages
18 Years and older
Sex
Female
01

Study summary

The specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21.

Read the detailed description

To collect specimens for the purpose of developing a prenatal aneuploidy test. The test will analyze circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have an increased risk indicator/s for fetal chromosomal aneuploidy and are undergoing invasive prenatal diagnosis by chorionic villus sampling (CVS) and/or genetic amniocentesis. The results of the ccff aneuploidy test will be compared to the chromosomal analysis obtained via CVS or genetic amniocentesis.

02

Conditions studied

  • Down Syndrome
  • Fetal Aneuploidy

Keywords

  • Down syndrome
  • fetal aneuploidy
  • trisomy
  • noninvasive screening test
03

In context

Down Syndrome

438 studies on the registry are indexed under Down Syndrome; 99 are open to participants now.

This study's planned enrollment of 2,000 is above the median of 158 across 145 observational studies indexed under Down Syndrome.

Browse Down Syndrome studies →

Lead sponsor

Sequenom, Inc. is the lead sponsor of 26 studies on the registry; 5 are open to participants now.

First submitted before Sequenom, Inc. became part of Labcorp.

Browse Sequenom, Inc. studies →All Labcorp studies →

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
18 Years and older
Sexes eligible
Female
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Pregnant women between 10 and 22 weeks of gestation who are scheduled to undergo a CVS or amniocentesis procedure and will receive the fetal FISH, karyotype and/or QF-PCR results from the procedure.

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

  • pregnant between 10 and 22 weeks gestation
  • 18 years of age or older
  • provides signed and dated
  • subject is at increased risk for fetal aneuploidy
  • subject is willing to undergo a CVS and/or amniocentesis procedure for the purpose of genetic analysis
  • subject agrees to provide the genetic results of the invasive procedure

Exclusion criteria

Exclusion Criteria:

  • Fetal demise at time of specimen sampling
  • Previous sample donation under this protocol
Terms in these criteria, in plain language(1)

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.

05

Study design

Observational model
Case-only
Time perspective
Prospective
Enrollment
2,000 participants (estimated)
Biospecimen retention
Samples with dna
06

What researchers measure

Primary outcomes

  1. Collect samples and data for assay validation.

    Sensitivity and Specificity

    Time frame: 9-24 weeks of gestatational age

07

Study locations

14 of 14 sites recruiting
08

References and documents

Individual participant data

Plan to share: No — Samples are used for research and development of a noninvasive prenatal test. However, samples used for publications will have data shared as defined by journal.

No publications or documents are linked to this record.

09

Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reachedSimilar studies: half by the dot; the band is the middle halfHalf of similar studies reached it by the dot; the band is the middle half, from a quarter to three quarters

Started May 2011 (actual). Primary completion is estimated for Dec 2027, 199 months after the start.

Of 55 observational studies under Down Syndrome, half reached primary completion within 34 months of starting (the median), counting those still running; a quarter within 19 and three quarters within 80. This study's planned 199 months is above that.

How these figures are worked out, and which studies are left out of them.

Registered
Sep 2, 2011
First posted
Sep 7, 2011
StartActual
May 2011
Primary completionEst.
Dec 2027
CompletionEst.
Mar 2028
Last update
Sep 9, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Sep 9, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT01429389
Lead sponsor
Sequenom, Inc.
Responsible party
Sponsor
First posted
Sep 7, 2011
Start date
May 2011
Primary completion
Dec 2027 (estimated)
Completion
Mar 2028 (estimated)
Last update
Sep 9, 2026

Study contacts

Daniel Grosu, MD
study director · Sequenom, Inc.

Oversight

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

Interested in this study?

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No contact was published for this record. The registry link below has the sponsor’s details.

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Discussion

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