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Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders

NCT ID: NCT07304193

Last Updated: 2025-12-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

120 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-01-01

Study Completion Date

2029-12-31

Brief Summary

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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.

Detailed Description

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Conditions

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Sex Chromosome Disorders

Keywords

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Turner syndrome Klinefelter syndrome XYY syndrome XXX syndrome

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Electively aborted fetuses with genetically verified sex chromosome abnormalities

No interventions assigned to this group

Elective aborted health fetuses

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

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 OR 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
Minimum Eligible Age

11 Weeks

Maximum Eligible Age

22 Weeks

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Aarhus University Hospital

OTHER

Sponsor Role collaborator

University of Aarhus

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Anne Skakkebæk, MD, PHD

Role: PRINCIPAL_INVESTIGATOR

Aarhus University Hospital

Locations

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Aarhus University Hospital

Aarhus, , Denmark

Site Status

Countries

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Denmark

Other Identifiers

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1-10-72-170-23

Identifier Type: -

Identifier Source: org_study_id