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Enrolling by Invitation

NCT Number: NCT07341412

Clinical and Genetic Aspects in Fetuses and Children With Sex Chromosome Disorders

The aim of the project is to:

1. Investigate organ development and growth in fetuses with sex chromosome disorders; 2. Investigate growth, development, and morbidity in children with sex chromosome disorders during the first years of life; 3. Delineate how variations in sex chromosome number affect the epigenetic and genetic mechanisms regulating gene expression in the placenta and in multiple tissues of the child after birth over time during early childhood; 4. Investigate the gut microbiome in children with sex chromosome disorders during the first years of life; 5. Identify the epigenetic and genetic mechanisms and placental and child-specific alterations underlying the phenotype observed in fetuses, children, and adults with sex chromosome disorders, using a deep phenotyping approach.

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Key information

Conditions

Sex Chromosome Disorders Abnormal Karyotype Cardiovascular Abnormalities Cardiovascular Diseases Chromosome Aberrations 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 Pathologic Processes Pathological Conditions, Signs and Symptoms Sex Chromosome Aberrations Sex Chromosome Disorders of Sex Development Triple X syndrome Turner Syndrome Urogenital Abnormalities Urogenital Diseases XYY Karyotype

Age range

0 year–50 year

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

for pregnant participants in case group:

Age ≥18 years Fetus with a genetically verified sex chromosome disorder Written informed consent

Inclusion criteria

for pregnant participants in control group:

Age ≥18 years Normal first- and second-trimester ultrasound examinations Fetal growth within the normal range Written informed consent

Inclusion criteria

for mothers in the case group:

Age ≥18 years at the time of pregnancy with the child Child with a genetically verified sex chromosome disorder Written informed consent

Inclusion criteria

for mothers in the control group:

Age ≥18 years at the time of pregnancy with the child Normal first- and second-trimester ultrasound examinations during the pregnancy Normal fetal growth during the pregnancy Written informed consent

Inclusion criteria

for children in the case group:

If parents share joint custody, written informed consent must be obtained from both parents Ability to undergo a physical examination Child with a genetically verified sex chromosome disorder (prenatally or postnatally diagnosed)

Inclusion criteria

for children in the control group:

If parents share joint custody, written informed consent must be obtained from both parents Ability to undergo a physical examination

Exclusion criteria

for all groups:

Severe claustrophobia Implanted magnetic material contraindicating MRI

Treatment and study plan

Primary outcomes

  1. Level of DNA methylation

    Time frame: 5 years

    Levels of DNA methylation in placenta, blood, saliva, and urothelial cells

  2. Level of RNA ekspression

    Time frame: 5 years

    Level of RNA ekspression in placenta, blood, saliva, and urothelial cells

  3. Height

    Time frame: 5 years

    Height in centimeter (cm)

  4. Weight

    Time frame: 5 years

    Weight in kilogram (kg) or gram (g)

  5. Body mass index

    Time frame: 5 years

    Body mass index (BMI) in kg/m²

  6. Head circumference

    Time frame: 5 years

    head circumference in centimeter (cm)

  7. Fat mass and fat-free mass

    Time frame: 5 years

    Measure of fat mass and fat-free mass by PEA POD (kg)

  8. Development

    Time frame: 5 years

    Bayley-4 will be used to measure development. Ages & Stages Questionnaires will be used to measure development including social-emotional development drawing on the parents knowledge.

  9. Fecal microbial diversity

    Time frame: 5 years

    Measure of fecal microbial diversity

  10. Fecal microbial composition

    Time frame: 5 year

    Measurement of fecal microbial composition

  11. Left ventricular ejection fraction

    Time frame: 5 years

    Left ventricular ejection fraction measured by echocardiography (%)

  12. Left ventricular diameters

    Time frame: 5 years

    Left ventricular end-diastolic and end-systolic diameters measured by echocardiography (mm)

  13. Interventricular septal wall thickness

    Time frame: 5 years

    Interventricular septal wall thickness measured by echocardiography (mm)

  14. Heart rate

    Time frame: 5 years

    Heart rate (beats per minute) measured by electrocardiogram

  15. PR interval

    Time frame: 5 years

    PR interval (ms) measured by electrocardiogram

  16. QRS duration

    Time frame: 5 years

    QRS duration (ms) measured by electrocardiogram

  17. Corrected QT interval

    Time frame: 5 years

    Corrected QT interval (ms) measured by electrocardiogram

  18. Blood pressure

    Time frame: 5 years

    Systolic and diastolic blood pressure (mmHg)

  19. Congenital heart malformation

    Time frame: 5 years

    Congenital heart malformation assessed by echocardiography

  20. Aorta diameter

    Time frame: 5 years

    Aorta diameter (mm) measured by echocardiography

  21. Aortic valve mean gradient

    Time frame: 5 years

    Measure of aortic valve mean gradient (mmHG)

  22. Mitral valve mean gradient

    Time frame: 5 years

    Measure of mitral valve mean gradient (mmHg)

  23. Transaortic doppler flow

    Time frame: 5 years

    Measure of transaortic doppler flow (m/s)

  24. Fetal brain volume

    Time frame: 5 years

    Fetal brain volume measured by MRI (cm³)

  25. Fetal heart volume

    Time frame: 5 years

    Fetal heart volume measured by MRI (cm³)

  26. Fetal kidney volume

    Time frame: 5 years

    Fetal kidney volume measured by MRI (cm³)

  27. Fetal lever volume

    Time frame: 5 years

    Fetal lever volume measured by MRI (cm³)

  28. Fetal spleen volume

    Time frame: 5 years

    Fetal spleen volume measured by MRI (cm³)

  29. Fetal gonadal volume

    Time frame: 5 years

    Fetal gonadal volume measured by MRI (cm³)

Secondary outcomes

  1. Left ventricular mass

    Time frame: 5 years

    Calculation of left ventricular mass (g)

Sponsors and collaborators

Lead sponsor

University of Aarhus

Other

Collaborators

  • Aarhus University Hospital

Registry information

Important dates

Study start
2024
Primary completion
2034
Study completion
2034
First posted
Jan 14, 2026
Registry last updated
Jan 14, 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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