Molecular Associations With Reproductive Failure
Summary
The overall hypothesis to be tested is: women with the molecular phenotype of highly skewed X chromosome inactivation are at increased risk of spontaneous abortion.
Description
The overall hypothesis to be tested is: women with the molecular phenotype of highly skewed X chromosome inactivation are at increased risk of spontaneous abortion.
We will investigate this hypothesis through two complimentary aims. In the Background and Significance section, we first present data on a 53-member pedigree segregating an X-linked recessive lethal defect that results in skewed X inactivation in the carrier females via secondary selection against those cells with the defective X chromosome active. We have characterized this deletion to be a 500 kb (approximate) deletion in distal Xq28. Moreover, the carrier females show a statistically significant increase in the frequency of spontaneous abortion as compared to non-deletion carrying relatives. Secondly, in the Preliminary Studies section, we present data from a population based case-control study wherein highly skewed X chromosome inactivation is significantly correlated with idiopathic recurrent spontaneous abortion. This protocol attempts to elucidate the mechanism underlying this association.
The first specific aim is to determine if women with highly skewed X chromosome inactivation are at risk of pregnancy loss. This will be accomplished through a prospective protocol, analyzing X chromosome inactivation patterns in pregnant women and investigating a possible association between X chromosome inactivation and pregnancy outcome. The second aim will study the nature of pregnancy loss in women with skewed X chromosome inactivation. This aim will correlate maternal X inactivation patterns with abortus karyotype.
Study Design
Observational Model: Case Control, Time Perspective: Prospective
Conditions
Spontaneous Abortions
Location
Magee-Womens Hospital
Pittsburgh
Pennsylvania
United States
15213
Status
Active, not recruiting
Source
University of Pittsburgh
Results (where available)
Links
- Source: http://clinicaltrials.gov/show/NCT00298116
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
Abortion, Habitual
Three or more consecutive spontaneous abortions.
Remission, Spontaneous
A spontaneous diminution or abatement of a disease over time, without formal treatment.
Abortion Applicants
Individuals requesting induced abortions.
Spontaneous Combustion
A circumstance where a substance or organism takes fire and burns without an exogenous source. Spontaneous human combustion differs from preternatural human combustibility in that in the latter, some spark or trivial flame sets the fire and the body tissues, which have a greatly enhanced inflammability, continue to undergo incineration without any external heat source or combustible materials. (Bergman NA. Spontaneous human combustion: its role in literature and science. Pharos 1988;Fall;51(4):18-21)
Hemorrhagic Disorders
Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS).
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