Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Sex Chromosome Disorders. Basic parameters: 11 Weeks — 22 Weeks · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Denmark
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
To conduct a comprehensive clinical investigation of electively aborted fetuses with sex chromosome disorders and their placentas, in parallel with analyses of epigenetic alterations and changes in gene expression in these fetuses and their placentas, with the aims to: 1. delineate how variations in sex chromosome number affect the epigenetic and genetic mechanisms regulating gene expression in the placenta and in multiple fetal tissues in fetuses with sex chromosome disorders; 2. identify the epigenetic and genetic mechanisms and placental and fetal alterations that underlie the phenotypic manifestations observed in fetuses with sex chromosome disorders.
Primary outcome measures
- DNA methylation profile [Time frame: 5 years]
- Gene expression profile [Time frame: 5 years]
Eligibility criteria
Inclusion criteria cases:
- Age ≥18 years
- Fetuses with genetically verified sex chromosome disorders
- Gestational age between 11+0 and 22+6 at the time of abortion or at delivery due to intrauterine fetal death
- Written informed consent
Inclusion criteria cases:
- Age ≥18 years
- No known sex chromosome disorder or other genetic disorder in the fetus
- No known fetal malformations
- Fetal growth within the normal range
- Gestational age between 11+0 and 22+6 at the time of abortion
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-control
Study locations
Denmark · 1 center
- Aarhus University Hospital — Aarhus
Identifiers
NCT: NCT07304193 · 1-10-72-170-23