Trisomy 21 in FetusNCT04488393
Clinical Performance of NIPT in Multiple Gestation Pregnancies
An observational study of Trisomy 21 in Fetus, run by University of Pennsylvania at 1 site in United States.
Trial summary
This study plans to evaluate the clinical performance of the MaterniT21 PLUS and/or GENOME Laboratory Developed Test, in the detection of fetal trisomy 21 in circulating cell-free DNA extracted from maternal blood samples obtained from women pregnant with a twin gestation. Read more about this study
- Who is it for?
- Ages 18 years and older, women only
- Conditions the study is for
- Trisomy 21 in Fetus
- What is being tested?
- MaterniT21 PLUS and GENOME Laboratory-Developed Tests
- Type of treatment
- Medical device
- How many people
- 2,000 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Mar 2020to 19 Jun 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- Women only
- Adult, Older adult
Study population: The Study Population will consist of women 18 years of age and older who underwent testing with a Sequenom NIPT, were pregnant with a multiple gestation at the time of testing and whose pregnancies should have outcome based upon gestational age at the time of testing.
Who may be able to join
- subject pregnant with a multiple gestation and received NIPT from Sequenom Laboratories;
- subject was 18 or older at the time of NIPT
Who cannot join
- none
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Pennsylvania
Philadelphia, Pennsylvania, 19104
About this study
Official title: Clinical Performance of NIPT (Noninvasive Prenatal Testing) in Multiple Gestation Pregnancies (SCMM-T21-110)
This study plans to evaluate the clinical performance of the MaterniT21 PLUS and/or GENOME Laboratory Developed Test, in the detection of fetal trisomy 21 in circulating cell-free DNA extracted from maternal blood samples obtained from women pregnant with a twin gestation.
- Conditions
- Trisomy 21 in Fetus
- Being tested
- MaterniT21 PLUS and GENOME Laboratory-Developed Tests
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MaterniT21 PLUS and GENOME Laboratory-Developed TestsDevice
Both the MaterniT21 PLUS and GENOME are intended for use as laboratory developed test that analyze ccfDNA extracted from a maternal blood sample utilizing Massively Parallel Sequencing (MPS) technology.
| Study group | Role | What they receive |
|---|---|---|
| Pregnancies with multiple gestations | Not described Receives: Device: MaterniT21 PLUS and GENOME Laboratory-Developed Tests |
What is being measured
The primary outcome is the main question the study is designed to answer.
Determination of sensitivity of NIPT detection of trisomy 21 among a population of women with twin gestations.
Measured: time from maternal blood draw to delivery
Determination of specificity of NIPT detection of trisomy 21 among a population of women with twin gestations.
Measured: time from maternal blood draw to delivery
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jul 2020
- Study start1 Mar 2020
- Primary completion15 Nov 2021
- Study completion19 Jun 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Trisomy 21 in FetusStudies of the same condition, open and under way.
- More trials run by University of PennsylvaniaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 2,000 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Pennsylvania
- Sponsor type
- University, hospital or other
- Collaborators
- Sequenom, Inc/Laboratory Corporation of America Holdings
- Responsible party
- Principal investigator, Lorraine Dugoff, University of Pennsylvania
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04488393
- Sponsor's protocol ID
- SCMM-T21-110
- Status last verified
- Dec 2022
- First submitted
- 22 Jul 2020
- Last updated
- 7 Dec 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Siegel MR, James K, Bromley B, Koelper NC, Chasen ST, Griffin L, Roman AS, Limaye M, Ranzini A, Clifford C, Biggio JR, Subramaniam A, Seasely AR, Page JM, Nicholas SS, Idler J, Rao R, Shree R, McLennan G, Dugoff L; Twin cfDNA Study Consortium. First-Trimester Cell-Free DNA Fetal Fraction and Birth Weight in Twin Pregnancies. Am J Perinatol. 2025 Apr;42(5):605-611. doi: 10.1055/a-2413-2353. Epub 2024 Sep 11.
PubMed 39260415
Study at a glance
From the registry record, last updated by the sponsor on 7 Dec 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Performance of NIPT (Noninvasive Prenatal Testing) in Multiple Gestation Pregnancies (SCMM-T21-110)
- ClinicalTrials.gov ID
- NCT04488393
- Acronym / sponsor ID
- SCMM-T21-110
- Conditions
- Trisomy 21 in Fetus
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 2,000 participants (actual)
- Lead sponsor
- University of PennsylvaniaUniversity, hospital or other
- Collaborators
- Sequenom, Inc/Laboratory Corporation of America Holdings
- Study start
- 1 Mar 2020 (actual)
- Primary completion
- 15 Nov 2021 (actual)
- Study completion
- 19 Jun 2022 (actual)
- First posted
- 28 Jul 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study plans to evaluate the clinical performance of the MaterniT21 PLUS and/or GENOME Laboratory Developed Test, in the detection of fetal trisomy 21 in circulating cell-free DNA extracted from maternal blood samples obtained from women pregnant with a twin gestation.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Pregnancies with multiple gestations | – | Device: MaterniT21 PLUS and GENOME Laboratory-Developed Tests |
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Age groups
- Adult, Older adult
- Study population
- The Study Population will consist of women 18 years of age and older who underwent testing with a Sequenom NIPT, were pregnant with a multiple gestation at the time of testing and whose pregnancies should have outcome based upon gestational age at the time of testing.
Key inclusion criteria (2 listed)
- subject pregnant with a multiple gestation and received NIPT from Sequenom Laboratories;
- subject was 18 or older at the time of NIPT
Key exclusion criteria (1 listed)
- none
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| MaterniT21 PLUS and GENOME Laboratory-Developed TestsBoth the MaterniT21 PLUS and GENOME are intended for use as laboratory developed test that analyze ccfDNA extracted from a maternal blood sample utilizing Massively Parallel Sequencing (MPS) technology. | Device | Pregnancies with multiple gestations |
Primary outcome
Determination of sensitivity of NIPT detection of trisomy 21 among a population of women with twin gestations.
Time frame: time from maternal blood draw to delivery
Determination of specificity of NIPT detection of trisomy 21 among a population of women with twin gestations.
Time frame: time from maternal blood draw to delivery
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Dec 2022.
- Derived from this study: PubMed 39260415Siegel MR, James K, Bromley B, Koelper NC, Chasen ST, Griffin L, Roman AS, Limaye M, Ranzini A, Clifford C, Biggio JR, Subramaniam A, Seasely AR, Page JM, Nicholas SS, Idler J, Rao R, Shree R, McLennan G, Dugoff L; Twin cfDNA Study Consortium. First-Trimester Cell-Free DNA Fetal Fraction and Birth Weight in Twin Pregnancies. Am J Perinatol. 2025 Apr;42(5):605-611. doi: 10.1055/a-2413-2353. Epub 2024 Sep 11.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Trisomy 21 in Fetus, run by University of Pennsylvania at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 7 Dec 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Determination of sensitivity of NIPT detection of trisomy 21 among a population of women with twin gestations. (time frame: time from maternal blood draw to delivery). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04488393, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Dec 2022.