Accurate Assessment and Intervention Research on Newborn Whole Genome Sequencing and Genetic Disease Risk
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Genetic Disease. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- China
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Accurate Assessment and Intervention Research on Newborn Whole Genome Sequencing and Genetic Disease Risk(China Baby Omics)
Overview
Maternal and infant health is the foundation of public health, and its status directly reflects the overall health level of the population. With rapid socioeconomic development and increasingly severe environmental issues, health problems among women and children have become more widespread and diverse. In the new era, maternal and child health faces new challenges, with higher demands in areas such as reproductive health promotion, birth defect prevention, maternal and infant safety, and childhood disease prevention. Cohort studies, as an epidemiological research method for exploring disease etiology, involve recruiting participants before or during pregnancy and conducting follow-ups on pregnancy, childbirth, and maternal and child health outcomes after birth to identify various factors influencing diseases and health. Focusing on the early stages of life, this approach is an effective method for studying the associations between environmental, genetic, and behavioral risk factors during early life and embryonic development, fetal health, and infant health. This project plans to conduct long-term follow-ups on couples and their offspring on a family basis, while collecting biological samples at multiple time points. A systematic multi-dimensional assessment, based on clinical information and multi-omics data from the enrolled population, will be used to infer the causes of reproductive and pregnancy-related diseases and developmental abnormalities, identify new biomarkers for pregnancy-related diseases, establish predictive models, and recognize risk factors in the early life of offspring, thereby providing guidance for the prevention and control of reproductive and developmental diseases.
Detailed description
If the donor agrees to participate in this project, they will need to sign a written informed consent form, register for enrollment, and complete relevant questionnaires. During the project participation, they will be required to provide a small amount of biological samples within the specified timeframe. The biological samples provided by the donor will be used by the project's collaborating institutions in the hospital to conduct multi-omics experiments and analyses, including nucleic acid extraction, detection, database construction, and sequencing of biological samples such as peripheral blood, urine, and vaginal secretions. The clinical data of the donor will be stored in the hospital, and the gene, protein, metabolic, and vaginal microbiome-related detection data generated based on the samples will also be stored in the hospital. The use of samples is subject to strict review procedures to ensure the rationality and feasibility of scientific research, as well as compliance with laws, regulations, and ethical norms.
Primary outcome measures
- Whole-genome sequencing data [Time frame: After the completion of sample collection, an average of 1 year.]
- Concentration of metabolite [Time frame: After the completion of sample collection, an average of 1 year.]
- Construction and sequencing of cfRNA from maternal peripheral blood [Time frame: After the completion of sample collection, an average of 1 year.]
- Whole-genome DNA methylation data [Time frame: After the completion of sample collection, an average of 1 year.]
- Protein expression differences and functional analysis [Time frame: After the completion of sample collection, an average of 1 year.]
- The metagenomic data [Time frame: After the completion of sample collection, an average of 1 year.]
Eligibility criteria
Inclusion criteria
- Families with ongoing pregnancies (via assisted reproductive therap or natural conception) and newborn infants.
Exclusion criteria
- None
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
China · 1 center
- Women's Hospital, School of Medicine, Zhejiang University — Hangzhou
Identifiers
NCT: NCT07365254 · IRB-20250021-R