Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders

NCT07304193 | Enrolling By Invitation

• 1 other identifier: 1-10-72-170-23
• Study Type: observational
• Target: 120
• Locations: 1 country
• Sites: 1

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. 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. 2.identify the epigenetic and genetic mechanisms and placental and fetal alterations that underlie the phenotypic manifestations observed in fetuses with sex chromosome disorders.

Conditions

Sex Chromosome Disorders

Keywords

Turner syndrome; Klinefelter syndrome; XYY syndrome; XXX syndrome

Outcome Measures

Primary Outcomes (2)

• DNA methylation profile

  DNA methylation of placenta DNA methylation across fetal tissues

  5 years

• Gene expression profile

  RNA expression of placenta RNA expression across fetal tissue

  5 years

Study Arms (2)

Electively aborted fetuses with genetically verified sex chromosome abnormalities

Elective aborted health fetuses

Eligibility Criteria

• Age: 11 Weeks - 22 Weeks
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• 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.

You may qualify if:

• 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
• 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

Sponsors & Collaborators

• University of Aarhus: lead
• Aarhus University Hospital: collaborator

Study Sites (1)

Aarhus University Hospital

Aarhus, 8200, Denmark

Location

Biospecimen

Retention: SAMPLES WITH DNA

Fetal tissue and placental tissue

MeSH Terms

Conditions

Sex Chromosome Disorders; Turner Syndrome; Klinefelter Syndrome; 47, XYY syndrome; Triple X syndrome

Condition Hierarchy (Ancestors)

Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Gonadal Dysgenesis; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Sex Chromosome Disorders of Sex Development; Male Urogenital Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Gonadal Disorders; Endocrine System Diseases; Hypogonadism

Study Officials

• Anne Skakkebæk, MD, PHD

  Aarhus University Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 12, 2025
• First Posted: December 26, 2025
• Study Start: January 1, 2024
• Primary Completion (Estimated): December 31, 2029
• Study Completion (Estimated): December 31, 2029
• Last Updated: January 8, 2026

Record last verified: 2025-12

Locations

DK (1)