Genomic Predictors of Recurrent Pregnancy Loss

This observational study aims to understand why some women experience recurrent pregnancy loss (RPL), which is when a woman has two or more miscarriages. Researchers want to find genetic reasons for RPL and discover genetic markers that can predict it. They will collect samples from women who have experienced pregnancy loss and their partners to look at their genes. The study is looking for 500 participants and will follow their progress for 5 years to determine the genetic causes of RPL. You may be able to join if you are a woman between 18 and 50 years old who has had a recent pregnancy loss before 20 weeks and a history of one or more prior pregnancy losses, and your current pregnancy was confirmed to be chromosomally normal.

Study design
This is an observational study aiming to recruit up to 500 participants across two cohorts to identify genetic causes of recurrent pregnancy loss.
What's involved
Participants will provide tissue from a product of conception (POC) and DNA samples (blood or saliva). Additional DNA samples from family members or prior pregnancy losses may be requested.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint to determine genetic etiology for Recurrent Pregnancy Loss will be measured at 5 years.

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NCT05444283

Genomic Predictors of Recurrent Pregnancy Loss

Recruiting
Not specifiedAges 18–50Observational
Yale University
~500 participants
Updated 2026-05-22 on ClinicalTrials.gov

At a glance

Recruiting sites
9 of 10 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Determine genetic etiology for Recurrent Pregnancy Loss
Measured over 5 years
Recurrent Pregnancy Loss
10 sites across 8 states
Illinois2
Texas2
Colorado1
Connecticut1
Maryland1
Michigan1
New York1
Pennsylvania1

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Eligibility criteria

Inclusion

Women with loss of a current singleton pregnancy at \< 20 0/7 weeks gestation, documented by ultrasonography or histopathological examination
History of one or more prior pregnancy losses
Euploid current pregnancy confirmed by karyotype, microarray, or STORK (Short-read Transpore Rapid Karyotyping) sequencing Note: A limited number of aneuploid losses will be included as part of the pilot phase

Exclusion

History of parental karyotype abnormalities
History of antiphospholipid antibody syndrome
Evidence of uncontrolled diabetes
Evidence of uncontrolled thyroid disease
History of autoimmune disease related to pregnancy loss (e.g., systemic lupus erythematosus, rheumatoid arthritis)
History of uterine anomalies
History of cervical insufficiency
  • Determine genetic etiology for Recurrent Pregnancy Loss5 years

    The WGS tool will be used to analyze the POC sample and parental blood samples to determine the clinical reportable genetic cause for RPL