Clinical and Genetic Aspects in Fetuses and Children With Sex Chromosome Disorders
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 入组人数
- 300
- 试验地点
- 1
- 主要终点
- Level of DNA methylation
研究概览
简要总结
The aim of the project is to:
- Investigate organ development and growth in fetuses with sex chromosome disorders;
- Investigate growth, development, and morbidity in children with sex chromosome disorders during the first years of life;
- 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;
- Investigate the gut microbiome in children with sex chromosome disorders during the first years of life;
- 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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 0 Years 至 50 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •for all groups:
- •Severe claustrophobia Implanted magnetic material contraindicating MRI
研究组 & 干预措施
Pregnant women carrying a fetus without a sex chromosome disorder (Controls)
Mothers of a child with a sex chromosome disorder
MOthers of a child without a sex chromosome disorder (Controls)
Children with a sex chromosome disorder
Children without a sex chromosome disorder (Controls)
Pregnant women carrying a fetus with a sex chromosome disorder
结局指标
主要结局
Level of DNA methylation
时间窗: 5 years
Levels of DNA methylation in placenta, blood, saliva, and urothelial cells
Level of RNA ekspression
时间窗: 5 years
Level of RNA ekspression in placenta, blood, saliva, and urothelial cells
Height
时间窗: 5 years
Height in centimeter (cm)
Weight
时间窗: 5 years
Weight in kilogram (kg) or gram (g)
Body mass index
时间窗: 5 years
Body mass index (BMI) in kg/m²
Head circumference
时间窗: 5 years
head circumference in centimeter (cm)
Fat mass and fat-free mass
时间窗: 5 years
Measure of fat mass and fat-free mass by PEA POD (kg)
Development
时间窗: 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.
Fecal microbial diversity
时间窗: 5 years
Measure of fecal microbial diversity
Fecal microbial composition
时间窗: 5 year
Measurement of fecal microbial composition
Left ventricular ejection fraction
时间窗: 5 years
Left ventricular ejection fraction measured by echocardiography (%)
Left ventricular diameters
时间窗: 5 years
Left ventricular end-diastolic and end-systolic diameters measured by echocardiography (mm)
Interventricular septal wall thickness
时间窗: 5 years
Interventricular septal wall thickness measured by echocardiography (mm)
Heart rate
时间窗: 5 years
Heart rate (beats per minute) measured by electrocardiogram
PR interval
时间窗: 5 years
PR interval (ms) measured by electrocardiogram
QRS duration
时间窗: 5 years
QRS duration (ms) measured by electrocardiogram
Corrected QT interval
时间窗: 5 years
Corrected QT interval (ms) measured by electrocardiogram
Blood pressure
时间窗: 5 years
Systolic and diastolic blood pressure (mmHg)
Congenital heart malformation
时间窗: 5 years
Congenital heart malformation assessed by echocardiography
Aorta diameter
时间窗: 5 years
Aorta diameter (mm) measured by echocardiography
Aortic valve mean gradient
时间窗: 5 years
Measure of aortic valve mean gradient (mmHG)
Mitral valve mean gradient
时间窗: 5 years
Measure of mitral valve mean gradient (mmHg)
Transaortic doppler flow
时间窗: 5 years
Measure of transaortic doppler flow (m/s)
Fetal brain volume
时间窗: 5 years
Fetal brain volume measured by MRI (cm³)
Fetal heart volume
时间窗: 5 years
Fetal heart volume measured by MRI (cm³)
Fetal kidney volume
时间窗: 5 years
Fetal kidney volume measured by MRI (cm³)
Fetal lever volume
时间窗: 5 years
Fetal lever volume measured by MRI (cm³)
Fetal spleen volume
时间窗: 5 years
Fetal spleen volume measured by MRI (cm³)
Fetal gonadal volume
时间窗: 5 years
Fetal gonadal volume measured by MRI (cm³)
次要结局
- Left ventricular mass(5 years)