Back to search

Large scale genome sequencing and integrative analyses to define genomic predictors of recurrent pregnancy loss (GPRPL)

Details

Status

open

Study Type

Observational

Study Phase

Unspecified

Location(s)

The Johns Hopkins Hospital

1800 Orleans St Baltimore, MD 21287

Brief 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.

Eligibility

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