Sex Chromosome Disorders
Conditions
Keywords
Turner syndrome, Klinefelter syndrome, XYY syndrome, XXX syndrome
Brief summary
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.
Interventions
None listed
Sponsors
Aarhus University Hospital
University of Aarhus
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
11 Weeks to 22 Weeks
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| DNA methylation profile | 5 years | DNA methylation of placenta DNA methylation across fetal tissues |
| Gene expression profile | 5 years | RNA expression of placenta RNA expression across fetal tissue |
Countries
Denmark
Outcome results
None listed