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

NCT04935138 | Terminated

• 1 other identifier: CD20-011
• Study Type: observational
• Target: 78
• Locations: 1 country
• Sites: 1

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.

Conditions

Early Pregnancy Loss

Outcome Measures

Primary Outcomes (1)

• microarray analysis of products of conception (POC)

  chromosome anomalies

  7 days

Interventions

cfDNA analysis GENETIC

sequencing data from cfDNA analysis

Eligibility Criteria

• Age: 18 Years - 50 Years
• Sex: female
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Previously pregnant women that have recently miscarried.

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• Quest Diagnostics-Nichols Insitute: lead
• Illumina, Inc.: collaborator

Study Sites (1)

Quest Diagnostics

San Juan Capistrano, California, 92675, United States

Location

Related Publications (4)

• 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.

  PMID: 22835448 BACKGROUND

• 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.

  PMID: 8737980 BACKGROUND

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

  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.

  PMID: 39124551 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Whole Blood

MeSH Terms

Conditions

Abortion, Spontaneous

Condition Hierarchy (Ancestors)

Pregnancy Complications; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases

Study Officials

• Pranoot X Tanpaiboon, MD

  Quest Diagnostics-Nichols Insitute

  PRINCIPAL INVESTIGATOR

• Karen E Racicot, PhD

  Quest Diagnostics-Nichols Insitute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 15, 2021
• First Posted: June 22, 2021
• Study Start: June 1, 2021
• Primary Completion: December 31, 2022
• Study Completion: December 31, 2022
• Last Updated: December 1, 2023

Record last verified: 2023-11

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)