Clinical and Genetic Aspects in Fetuses and Children 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: 0 years — 50 years · 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
The aim of the project is to: 1. Investigate organ development and growth in fetuses with sex chromosome disorders; 2. Investigate growth, development, and morbidity in children with sex chromosome disorders during the first years of life; 3. Delineate how variations in sex chromosome number affect the epigenetic and genetic mechanisms regulating gene expression in the placenta and in multiple tissues of the child after birth over time during early childhood; 4. Investigate the gut microbiome in children with sex chromosome disorders during the first years of life; 5. Identify the epigenetic and genetic mechanisms and placental and child-specific alterations underlying the phenotype observed in fetuses, children, and adults with sex chromosome disorders, using a deep phenotyping approach.
Primary outcome measures
- Level of DNA methylation [Time frame: 5 years]
- Level of RNA ekspression [Time frame: 5 years]
- Height [Time frame: 5 years]
- Weight [Time frame: 5 years]
- Body mass index [Time frame: 5 years]
- Head circumference [Time frame: 5 years]
- Fat mass and fat-free mass [Time frame: 5 years]
- Development [Time frame: 5 years]
- Fecal microbial diversity [Time frame: 5 years]
- Fecal microbial composition [Time frame: 5 year]
Secondary outcome measures (1)
- Left ventricular mass [Time frame: 5 years]
Eligibility criteria
Inclusion Criteria for pregnant participants in case group:
Age ≥18 years Fetus with a genetically verified sex chromosome disorder Written informed consent
Inclusion Criteria for pregnant participants in control group:
Age ≥18 years Normal first- and second-trimester ultrasound examinations Fetal growth within the normal range Written informed consent
Inclusion Criteria for mothers in the case group:
Age ≥18 years at the time of pregnancy with the child Child with a genetically verified sex chromosome disorder Written informed consent
Inclusion Criteria for mothers in the control group:
Age ≥18 years at the time of pregnancy with the child Normal first- and second-trimester ultrasound examinations during the pregnancy Normal fetal growth during the pregnancy Written informed consent
Inclusion Criteria for children in the case group:
If parents share joint custody, written informed consent must be obtained from both parents Ability to undergo a physical examination Child with a genetically verified sex chromosome disorder (prenatally or postnatally diagnosed)
Inclusion Criteria for children in the control group:
If parents share joint custody, written informed consent must be obtained from both parents Ability to undergo a physical examination
Exclusion Criteria for all groups:
Severe claustrophobia Implanted magnetic material contraindicating MRI
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: NCT07341412 · 1-10-72-65-24