Investigation of Growth, Development, and Genetic Mechanisms in Fetuses and Children with Sex Chromosome Disorders
This study aims to observe and understand the growth, development, and genetic mechanisms in fetuses and children who have sex chromosome disorders.
Data Collection
Collected at a single point in time - Cross-sectionalCongenital Abnormalities+25
+ Urogenital Diseases
+ Cardiovascular Diseases
Case-Control
Comparing exposures between individuals with and without disease in order to identify potential risk factors.Summary
Study start date: September 1, 2024
Actual date on which the first participant was enrolled.This study focuses on fetuses and children with sex chromosome disorders. It aims to understand how these disorders affect the development and growth of organs in fetuses. The study also seeks to explore growth, development, and health issues in children during their early years. It's important because it could help improve understanding of how variations in sex chromosome number influence genetic and epigenetic mechanisms that regulate gene expression in the placenta and various child tissues over time. This could potentially lead to better care and management of sex chromosome disorders. The study also investigates the gut microbiome in children with these disorders during their first years of life. In this observational study, participants won't receive any specific treatment. Instead, researchers will observe and gather data about their health and development over time. They will examine the growth and development of the participants, monitor any health issues, and collect samples to study genetic and epigenetic mechanisms. The study also involves analyzing the gut microbiome. The goal is to identify specific changes in the placenta and the child that are associated with the observed symptoms in fetuses, children, and adults with sex chromosome disorders.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.300 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Case-Control
Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.Until 50 Years
Range of ages for which participants are eligible to join.Healthy volunteers not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
Criteria
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
Study Centers
These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.This study has 1 location