Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders

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.

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Key information

Conditions

Sex Chromosome Disorders 47, XYY syndrome Cardiovascular Abnormalities Cardiovascular Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disorders of Sex Development Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Gonadal Disorders Gonadal Dysgenesis Heart Defects, Congenital Heart Diseases Hypogonadism Klinefelter Syndrome Male Urogenital Diseases Sex Chromosome Disorders of Sex Development Triple X syndrome Turner Syndrome Urogenital Abnormalities Urogenital Diseases

Age range

11 week–22 week

Sex eligibility

All sexes

Study type

Observational

Primary location

Aarhus University Hospital

Aarhus, 8200, Denmark

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

DNA methylation profile

Time frame: 5 years

DNA methylation of placenta DNA methylation across fetal tissues
Gene expression profile

Time frame: 5 years

RNA expression of placenta RNA expression across fetal tissue

Sponsors and collaborators

Lead sponsor

University of Aarhus

Other

Collaborators

Aarhus University Hospital

Registry information

Important dates

Study start: 2024
Primary completion: 2029
Study completion: 2029
First posted: Dec 26, 2025
Registry last updated: Jan 8, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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