Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders

N/AEnrolling By InvitationNCT07304193

University of Aarhus120 enrolled

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.

Study Type

OBSERVATIONAL

Enrollment

120

Conditions

Sex Chromosome Disorders

Eligibility

Sex: ALLMin age: 11 WeeksMax age: 22 Weeks

Medical Language ↔ Plain English

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

Locations (1)

Aarhus University Hospital

Outcomes

Primary Outcomes

DNA methylation profile

DNA methylation of placenta DNA methylation across fetal tissues

Time frame: 5 years

Gene expression profile

RNA expression of placenta RNA expression across fetal tissue

Time frame: 5 years