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Genomic Predictors of Recurrent Pregnancy Loss

RecruitingObservational studyHealthy volunteers welcome

Large Scale Genome Sequencing and Integrative Analyses to Define Genomic Predictors of Recurrent Pregnancy Loss

Who can join

Ages 18 to 50 · All sexes · Healthy volunteers welcome

Full eligibility criteria
Cohort A - Fetal Intolerome Cohort

Inclusion Criteria:

* 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 Criteria:

* 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

Cohort B - Maternal Effect Gene Cohort

Inclusion Criteria:

\- Women with a history of three or more pregnancy losses of unknown cause, with or without a liveborn child

Exclusion Criteria:

\- Known etiology for pregnancy loss

About the study

The overall goals of this proposal are to determine the genetic architecture of recurrent pregnancy loss (RPL) and to discover genomic predictors of RPL.

Sponsor: Yale University · Participants: 500 · Started: Sep 1, 2021

Contact the study team

Official record on ClinicalTrials.gov — NCT05444283

Locations in the U.S.

ColoradoUniversity of Colorado, Aurora
ConnecticutYale University, New Haven
IllinoisNorthwestern University, Chicago
MarylandJohns Hopkins University, Baltimore
MichiganWayne State University, Detroit
New YorkColumbia University, New York
PennsylvaniaPennsylvania State University, Hershey
TexasUniversity of Texas at Austin, Austin
University of Texas at San Antonio, San Antonio

From ClinicalTrials.gov, data retrieved Sep 29, 2026. Each study sets its own eligibility; the study team decides who can join.