Large Scale Genome Sequencing and Integrative Analyses to Define Genomic Predictors of Recurrent Pregnancy Loss
Yale University
Summary
The overall goals of this proposal are to determine the genetic architecture of recurrent pregnancy loss (RPL) and to discover genomic predictors of RPL.
Description
The following specific aims are proposed: Aim 1: Collect clinically well-characterized samples from two distinct cohorts of participants with unexplained recurrent pregnancy loss (RPL). * Cohort A will consist of trios (product of conception (POC), biological mother, and biological father) with unexplained RPL. Specifically, a cohort of up to 500 rigorously phenotyped trios will be recruited, for which couples' RPL is not attributable to known causes. POC tissues and parental DNA samples (blood or saliva) will be collected. If necessary for the purpose of determining the pathogenicity of seq…
Eligibility
- Age range
- 18–50 years
- Sex
- All
- Healthy volunteers
- Yes
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 uncontrol…
Locations (10)
- University of ColoradoAurora, Colorado
- Yale UniversityNew Haven, Connecticut
- Northwestern UniversityChicago, Illinois
- University of ChicagoChicago, Illinois
- Gaelle MassoudBaltimore, Maryland
- Wayne State UniversityDetroit, Michigan