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Enrolling by invitationNCT07304193Updated Jan 8, 2026

Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders

An observational study in Sex Chromosome Disorders, sponsored by University of Aarhus. Enrolling by invitation at 1 site in Denmark. Open to participants aged 11 Weeks to 22 Weeks. Per ClinicalTrials.gov, last updated 2026-01-08.

Sponsored by University of Aarhus · Observational

Study type
Observational
Model
Case-control
Time perspective
Cross-sectional
Enrollment
120
Ages
11 Weeks to 22 Weeks
Sex
All
01

Study 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.
02

Conditions studied

  • Sex Chromosome Disorders

Keywords

  • Turner syndrome
  • Klinefelter syndrome
  • XYY syndrome
  • XXX syndrome
03

In context

Turner Syndrome

125 studies on the registry are indexed under Turner Syndrome; 33 are open to participants now.

This study's planned enrollment of 120 is below the median of 164 across 70 observational studies indexed under Turner Syndrome.

Browse Turner Syndrome studies →

Lead sponsor

University of Aarhus is the lead sponsor of 1,300 studies on the registry; 189 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
11 Weeks to 22 Weeks
Sexes eligible
All
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.

Eligibility criteria

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

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
Terms in these criteria, in plain language(1)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

05

Study design

Observational model
Case-control
Time perspective
Cross-sectional
Enrollment
120 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • Electively aborted fetuses with genetically verified sex chromosome abnormalities
  • Elective aborted health fetuses
06

What researchers measure

Primary outcomes

  1. DNA methylation profile

    DNA methylation of placenta DNA methylation across fetal tissues

    Time frame: 5 years

  2. Gene expression profile

    RNA expression of placenta RNA expression across fetal tissue

    Time frame: 5 years

07

Study locations

1 site
08

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jan 8, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
09

Registry details

Key details

Study ID
NCT07304193
Responsible party
Sponsor
First posted
Dec 26, 2025
Start date
Jan 1, 2024
Primary completion
Dec 31, 2029 (estimated)
Completion
Dec 31, 2029 (estimated)
Last update
Jan 8, 2026

Study contacts

Anne Skakkebæk, MD, PHD
principal investigator · Aarhus University Hospital

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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No contact was published for this record. The registry link below has the sponsor’s details.

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