Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders

January 6, 2026 updated by: University of Aarhus

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 Overview

Status

Enrolling by invitation

Conditions

Study Type

Observational

Enrollment (Estimated)

120

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Denmark
      • Aarhus, Denmark, 8200
        • Aarhus University Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Recruitent of cases will take place at obstetric departments and departments of clinical genetics throughout Denmark.

Recruitment of controls will take place at obstetric departments in the Central Denmark Region.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Electively aborted fetuses with genetically verified sex chromosome abnormalities
Elective aborted health fetuses

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
DNA methylation profile
Time Frame: 5 years
DNA methylation of placenta DNA methylation across fetal tissues
5 years
Gene expression profile
Time Frame: 5 years
RNA expression of placenta RNA expression across fetal tissue
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Aarhus

Collaborators

Aarhus University Hospital

Investigators

  • Principal Investigator: Anne Skakkebæk, MD, PHD, Aarhus University Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2024

Primary Completion (Estimated)

December 31, 2029

Study Completion (Estimated)

December 31, 2029

Study Registration Dates

First Submitted

December 12, 2025

First Submitted That Met QC Criteria

December 12, 2025

First Posted (Estimated)

December 26, 2025

Study Record Updates

Last Update Posted (Actual)

January 8, 2026

Last Update Submitted That Met QC Criteria

January 6, 2026

Last Verified

December 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 1-10-72-170-23

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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