Cell-free DNA Analysis of Chromosome Anomalies in Early Pregnancy Loss

NCT ID: NCT04935138

Last Updated: 2023-12-01

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

78 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-06-01

Study Completion Date

2022-12-31

Brief Summary

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The study assesses the accuracy of cell-free DNA (cfDNA) analysis in detecting whole chromosomal aneuploidies from maternal plasma of patients with early, missed miscarriage.

Detailed Description

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Conditions

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Early Pregnancy Loss

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Interventions

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cfDNA analysis

sequencing data from cfDNA analysis

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* 5-20 weeks of gestation by ultrasound
* Miscarriage diagnosed by ultrasound
* Pregnancy tissue still present in utero, including an empty sac, and not completely expelled

Exclusion Criteria

* Maternal age \< 18 years
* No visible pregnancy tissue on ultrasound
* Multiple fetal gestation (\> than singleton)
* Pregnancy was conceived using in vitro fertilization (IVF) with preimplantation genetic testing for aneuploidy (PGT-A) performed on the transferred embryo
* No microarray testing is planned on the product of conception
* Previous normal non-invasive prenatal testing (NIPT) or diagnostic testing (chorionic villous sampling or amniocentesis) in the current pregnancy
* Patient unable to provide consent
Minimum Eligible Age

18 Years

Maximum Eligible Age

50 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

No

Sponsors

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Illumina, Inc.

INDUSTRY

Sponsor Role collaborator

Quest Diagnostics-Nichols Insitute

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Pranoot X Tanpaiboon, MD

Role: PRINCIPAL_INVESTIGATOR

Quest Diagnostics-Nichols Insitute

Karen E Racicot, PhD

Role: PRINCIPAL_INVESTIGATOR

Quest Diagnostics-Nichols Insitute

Locations

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Quest Diagnostics

San Juan Capistrano, California, United States

Site Status

Countries

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United States

References

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Barisic I, Zergollern L, Muzinic D, Hitrec V. Risk estimates for balanced reciprocal translocation carriers--prenatal diagnosis experience. Clin Genet. 1996 Mar;49(3):145-51. doi: 10.1111/j.1399-0004.1996.tb03274.x.

Reference Type BACKGROUND
PMID: 8737980 (View on PubMed)

ESHRE. European Society of Human Reproduction and Embryology guideline: recurrent pregnancy loss. Human Reproduction Open 2018: 1-12.

Reference Type BACKGROUND

Kutteh WH, Miller CE, Park JK, Corey V, Chavez M, Racicot K, Alagia DP 3rd, Jinnett KN, Curnow K, Dalton K, Bhatt S, Keefe DL. Cell-Free DNA Analysis of Fetal Aneuploidies in Early Pregnancy Loss. J Clin Med. 2024 Jul 23;13(15):4283. doi: 10.3390/jcm13154283.

Reference Type DERIVED
PMID: 39124551 (View on PubMed)

Practice Committee of the American Society for Reproductive Medicine. Evaluation and treatment of recurrent pregnancy loss: a committee opinion. Fertil Steril. 2012 Nov;98(5):1103-11. doi: 10.1016/j.fertnstert.2012.06.048. Epub 2012 Jul 24.

Reference Type BACKGROUND
PMID: 22835448 (View on PubMed)

Other Identifiers

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CD20-011

Identifier Type: -

Identifier Source: org_study_id