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

• Sponsor: Quest Diagnostics-Nichols Insitute (Industry)
• Overall Status: Enrolling by invitation
• CT.gov ID: NCT04935138
• Collaborator: Illumina, Inc. (Industry)
• Enrollment: 350
• Location: 1
• Anticipated Duration (Months): 12
• Patients Per Site Per Month: 29.2

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
Early Pregnancy Loss	Genetic: cfDNA analysis

Study Design

• Study Type: Observational
• Anticipated Enrollment: 350 participants
• Observational Model: Case-Only
• Time Perspective: Prospective
• Official Title: Cell-free DNA Analysis of Chromosome Anomalies in Early Pregnancy Loss
• Actual Study Start Date: Jun 1, 2021
• Anticipated Primary Completion Date: Jun 1, 2022
• Anticipated Study Completion Date: Jun 1, 2022

Outcome Measures

Primary Outcome Measures

1. microarray analysis of products of conception (POC) [7 days]

   chromosome anomalies

Eligibility Criteria

Criteria

• Ages Eligible for Study: 18 Years to 50 Years
• Sexes Eligible for Study: Female

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Quest Diagnostics	San Juan Capistrano	California	United States	92675

Sponsors and Collaborators

• Quest Diagnostics-Nichols Insitute
• Illumina, Inc.

Investigators

• Principal Investigator: Pranoot X Tanpaiboon, MD, Quest Diagnostics-Nichols Insitute

Study Documents (Full-Text)

None provided.

More Information

Publications

• Barisić I, Zergollern L, Muzinić D, Hitrec V. Risk estimates for balanced reciprocal translocation carriers--prenatal diagnosis experience. Clin Genet. 1996 Mar;49(3):145-51.
• ESHRE Guideline Group on RPL, Bender Atik R, Christiansen OB, Elson J, Kolte AM, Lewis S, Middeldorp S, Nelen W, Peramo B, Quenby S, Vermeulen N, Goddijn M. ESHRE guideline: recurrent pregnancy loss. Hum Reprod Open. 2018 Apr 6;2018(2):hoy004. doi: 10.1093/hropen/hoy004. eCollection 2018.
• 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.

• Responsible Party: Quest Diagnostics-Nichols Insitute
• ClinicalTrials.gov Identifier: NCT04935138
• Other Study ID Numbers: CD20-011
• First Posted: Jun 22, 2021
• Last Update Posted: Feb 28, 2022
• Last Verified: Feb 1, 2022

• Individual Participant Data (IPD) Sharing Statement: No
• Plan to Share IPD: No
• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Additional relevant MeSH terms: Abortion, Spontaneous; Fetal Death; Chromosome Disorders; Chromosome Aberrations

Study Results

No Results Posted as of Feb 28, 2022