Genetic DiseaseNCT07365254
Accurate Assessment and Intervention Research on Newborn Whole Genome Sequencing and Genetic Disease Risk
An observational study of Genetic Disease, run by Women's Hospital School Of Medicine Zhejiang University at 1 site in China.
Trial summary
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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Genetic Disease
- How many people
- 1,000,000 participants
- Where
- 1 siteChina
- Study dates
- 14 Feb 2025to 31 Dec 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Families with ongoing pregnancies (via assisted reproductive therap or natural conception) and newborn infants.
Who may be able to join
- Families with ongoing pregnancies (via assisted reproductive therap or natural conception) and newborn infants.
Who cannot join
- None
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site, 1 recruiting
- Recruiting
Women's Hospital, School of Medicine, Zhejiang University
Hangzhou, Zhejiang, 310006
About this study
Official title: Accurate Assessment and Intervention Research on Newborn Whole Genome Sequencing and Genetic Disease Risk(China Baby Omics)
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.
Read the 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.
- Conditions
- Genetic Disease
- Keywords
- Newborn, Multiomics
- Medical subject headings
- Genetic Diseases, Inborn
What is being measured
The primary outcome is the main question the study is designed to answer.
Whole-genome sequencing data
Complete 30-40X whole-genome sequencing of the serum cfDNA sample according to the instructions of the DNBSEQ-T7RS High-throughput Sequencing Kit (FCL PE100) V2.0, and perform bioinformatics analysis of the sequencing data.
Measured: After the completion of sample collection, an average of 1 year.
Concentration of metabolite
The concentration of each metabolite was analyzed and calculated using the automated targeted metabolic absolute quantification software HMQuant, independently developed by BGI.
Measured: After the completion of sample collection, an average of 1 year.
Construction and sequencing of cfRNA from maternal peripheral blood
The library construction and quality control were performed according to the BGI PALM-seq library construction method, followed by cfRNA sequencing. The PALM-seq sequencing bioinformati
Measured: After the completion of sample collection, an average of 1 year.
Whole-genome DNA methylation data
Combining bisulfite treatment with high-throughput sequencing technology enables the efficient and accurate mapping of whole-genome DNA methylation profiles, making it a crucial tool for epigenomics research. Based on the domestically developed DNBSEQTM sequencing technology, BGI has independently developed a novel library preparation method utilizing double-strand cyclization. This approach effectively addresses the base bias issue present in traditional methylation sequencing, allowing for rapid and efficient acquisition of authentic methylation level data.
Measured: After the completion of sample collection, an average of 1 year.
Protein expression differences and functional analysis
Sample protein preparation: Samples were taken from -80°C, and 50 μL of each sample was treated with urea, dithiothreitol, and iodoacetamide for reduction and alkylation. Solid-phase extraction plates were used to remove high-abundance proteins, followed by the addition of trypsin for enzymatic hydrolysis. Liquid chromatography-mass spectrometry detection: After enzymatic hydrolysis, the peptides were analyzed using nanoflow-high-performance liquid chromatography-high-resolution mass spectrometry (Lumos, Thermo) in DIA (data-independent acquisition) mode for data acquisition. Data analysis: DIA-NN software was used to identify and quantify proteins from the DIA data.
Measured: After the completion of sample collection, an average of 1 year.
The metagenomic data
Vaginal secretion DNA extraction and library sequencing: Magpure Stoll DNA KF kit was used to extract DNA from vaginal secretions; Construct a metagenomic library using the MGIEasy universal DNA library preparation kit; Use Agilent 2100 Bioanalyzer to detect the fragment range and concentration of the library. Qualified libraries were sequenced using the T1 sequencing platform according to the DNBSEQ-T7RS high-throughput sequencing kit instructions. Bioinformatics analysis of metagenomic sequencing data: The metagenomic data is first subjected to quality control of the original sequences using Trimomatic software, and then contaminated sequences are removed from the processed data using fastq_streen software, including host sequences and phix library contamination; Afterwards, the BWA aligner was used for comparison, and the human genome fragments were first removed. The microbial species composition and relative abundance were evaluated using the Metaphlan2 software.
Measured: After the completion of sample collection, an average of 1 year.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jan 2026
- Study start14 Feb 2025
- Primary completion31 Dec 2030 (estimated)
- Study completion31 Dec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,000,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Women's Hospital School Of Medicine Zhejiang University
- Sponsor type
- University, hospital or other
- Collaborators
- Zhejiang University, Second Affiliated Hospital, Zhejiang University, School of Medicine
- Responsible party
- Sponsor
- Investigators
- Hefeng Huang, Study chair, Women's Hospital School Of Medicine Zhejiang UniversityDan Zhang, Study chair, Women's Hospital School Of Medicine Zhejiang University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07365254
- Sponsor's protocol ID
- IRB-20250021-R
- Status last verified
- Jan 2025
- First submitted
- 25 Aug 2025
- Last updated
- 26 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Accurate Assessment and Intervention Research on Newborn Whole Genome Sequencing and Genetic Disease Risk(China Baby Omics)
- ClinicalTrials.gov ID
- NCT07365254
- Acronym / sponsor ID
- IRB-20250021-R
- Conditions
- Genetic Disease
- Keywords
- Newborn, Multiomics
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000,000 participants (estimated)
- Lead sponsor
- Women's Hospital School Of Medicine Zhejiang UniversityUniversity, hospital or other
- Collaborators
- Zhejiang University, Second Affiliated Hospital, Zhejiang University, School of Medicine
- Study start
- 14 Feb 2025 (actual)
- Primary completion
- 31 Dec 2030 (estimated)
- Study completion
- 31 Dec 2030 (estimated)
- First posted
- 26 Jan 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Families with ongoing pregnancies (via assisted reproductive therap or natural conception) and newborn infants.
Key inclusion criteria (1 listed)
- Families with ongoing pregnancies (via assisted reproductive therap or natural conception) and newborn infants.
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Whole-genome sequencing data
Time frame: After the completion of sample collection, an average of 1 year.
Complete 30-40X whole-genome sequencing of the serum cfDNA sample according to the instructions of the DNBSEQ-T7RS High-throughput Sequencing Kit (FCL PE100) V2.0, and perform bioinformatics analysis of the sequencing data.
Concentration of metabolite
Time frame: After the completion of sample collection, an average of 1 year.
The concentration of each metabolite was analyzed and calculated using the automated targeted metabolic absolute quantification software HMQuant, independently developed by BGI.
Construction and sequencing of cfRNA from maternal peripheral blood
Time frame: After the completion of sample collection, an average of 1 year.
The library construction and quality control were performed according to the BGI PALM-seq library construction method, followed by cfRNA sequencing. The PALM-seq sequencing bioinformati
Whole-genome DNA methylation data
Time frame: After the completion of sample collection, an average of 1 year.
Combining bisulfite treatment with high-throughput sequencing technology enables the efficient and accurate mapping of whole-genome DNA methylation profiles, making it a crucial tool for epigenomics research. Based on the domestically developed DNBSEQTM sequencing technology, BGI has independently developed a novel library preparation method utilizing double-strand cyclization. This approach effectively addresses the base bias issue present in traditional methylation sequencing, allowing for rapid and efficient acquisition of authentic methylation level data.
Protein expression differences and functional analysis
Time frame: After the completion of sample collection, an average of 1 year.
Sample protein preparation: Samples were taken from -80°C, and 50 μL of each sample was treated with urea, dithiothreitol, and iodoacetamide for reduction and alkylation. Solid-phase extraction plates were used to remove high-abundance proteins, followed by the addition of trypsin for enzymatic hydrolysis. Liquid chromatography-mass spectrometry detection: After enzymatic hydrolysis, the peptides were analyzed using nanoflow-high-performance liquid chromatography-high-resolution mass spectrometry (Lumos, Thermo) in DIA (data-independent acquisition) mode for data acquisition. Data analysis: DIA-NN software was used to identify and quantify proteins from the DIA data.
The metagenomic data
Time frame: After the completion of sample collection, an average of 1 year.
Vaginal secretion DNA extraction and library sequencing: Magpure Stoll DNA KF kit was used to extract DNA from vaginal secretions; Construct a metagenomic library using the MGIEasy universal DNA library preparation kit; Use Agilent 2100 Bioanalyzer to detect the fragment range and concentration of the library. Qualified libraries were sequenced using the T1 sequencing platform according to the DNBSEQ-T7RS high-throughput sequencing kit instructions. Bioinformatics analysis of metagenomic sequencing data: The metagenomic data is first subjected to quality control of the original sequences using Trimomatic software, and then contaminated sequences are removed from the processed data using fastq_streen software, including host sequences and phix library contamination; Afterwards, the BWA aligner was used for comparison, and the human genome fragments were first removed. The microbial species composition and relative abundance were evaluated using the Metaphlan2 software.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Jan 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Hefeng Huang study chair
Women's Hospital School Of Medicine Zhejiang University
Dan Zhang study chair
Women's Hospital School Of Medicine Zhejiang University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Disease, run by Women's Hospital School Of Medicine Zhejiang University at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 26 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Hengchao Ruan, phD (0571-88208964, ruanhengchao@zju.edu.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Whole-genome sequencing data (time frame: After the completion of sample collection, an average of 1 year.). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Jan 2026.