An observational study in Genetic Disease, Multiple Malformation and Congenital Malformation, sponsored by Children's Hospital of Fudan University. Recruiting at 1 site in China. Open to participants aged Up to 28 Days. Per ClinicalTrials.gov, last updated 2025-09-05.
Sponsored by Children's Hospital of Fudan University · Observational
The purpose of study is to evaluate the benefits of using the Next Generation Sequencing Technology to diagnose birth defects and genetic diseases. The results from genomic sequencing can also significantly shorten the time of examination, improve the diagnosis rate, guide the clinical treatments. So the ultimate goal is individualized or personalized therapy and promote prognosis.
Neonatal congenital malformation is one of the most frequent cause of infant death in the western world and major cities of China. There are many different types of congenital malformations, and some of these can be caused by changes in gene mutation. Next generation sequencing (NGS) is a high-throughput parallel sequencing that can provide genetic information with high accuracy. It is a faster and cost-effective method to detect gene mutations compared to Sanger sequencing. We hope to couple genomic techniques with more traditional methods involved in genetic discovery in order to investigate a broad range of conditions for which there is strong evidence that genetic factors are involved. So In this study, we evaluated the clinical role of NGS testing for neonatal genetic disease in newborns compared to Sanger sequencing to observe whether this new technology can significantly shorten the time of examination, improve the diagnosis rate, guide the intervention treatments and promote prognosis.
These neonates who have an undiagnosed illness, and partial families, will be eligible to participate in the study. The study population will be recruited from Children's Hospital of Fudan University inpatient population, primarily the neonatal intensive care unit (NICU), with a subpopulation presenting to other hospitals in China. All affected study participants will receive a genetic screening according to their clinical symptom. All subjects will have blood drawn for DNA isolation and genomic sequencing at the time of enrollment in the study. All blood sample volumes will adhere to the Fudan procedure on maximum blood in pediatric patients. In addition, cerebrospinal fluid and tissue samples may be collected and stored in the bank of biosamples. DNA will be isolated and prepared for NGS or Sanger with Fudan protocols at the Translational Medicine Center of Children's Hospital of Fudan University. Partial familial samples will also be obtained, and nucleic acids will also be sequenced, as indicated, to assist in diagnosis of the genetic disease in the newborn. All sequencing data will be stored in the Genome Center Biorepository. In the case of positive study findings that may be diagnostic, our investigator will perform confirmatory clinical diagnostic testing and, if confirmed, a standard clinical diagnostic report will be placed in the patient's medical record. Follow up with the patient's family will be guided by the clinical care team. Both molecular diagnoses results and duration to diagnosis will be recorded as primary outcomes.
In addition, this information will help alleviate anxiety on the part of the family, and also provides a mechanism for patient crossover into the rapid NGS arm if the patient is clinically deteriorating, and at the clinical care team's request. Each time a study participant is enrolled, the clinician and parents will be asked to fill out a survey prior to NGS testing and after return of results. We will also review the patient's medical record and collect clinical variables including laboratory testing, radiology results, medications and other treatments received to further analyze the effect NGS has on clinical care. So the ultimate goal is individualized or personalized therapy. We plan to follow up with families annually up to 18 months post enrollment and record clinical outcomes related to this study.
583 studies on the registry are indexed under Genetic Diseases, Inborn; 157 are open to participants now.
This study's planned enrollment of 2,000 is above the median of 151 across 239 observational studies indexed under Genetic Diseases, Inborn.
Browse Genetic Diseases, Inborn studies →Children's Hospital of Fudan University is the lead sponsor of 268 studies on the registry; 95 are open to participants now.
Counted across the registry records on this site, refreshed daily.
The study population will be recruited from Hospital inpatient population, primarily the neonatal intensive care unit who has some anomaly or abnormal laboratory testing suggestive of a genetic disease.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
One of the following criteria required.
Exclusion Criteria:
Neonates were diagnosed as birth defects who were recieving genomic sequencing and personalized treatment in NICU.
Mortality
The relative frequency of deaths in each group.
Time frame: At corrected age of 18 months
Disability Rate
Disability, defined as a physical or mental handicap, especially one that prevents a person from living a full, normal life or from holding a gainful job.
Time frame: At corrected age of 18 months
Gene Mutation
To detect the mutation and characterize the genetic architecture and risk variants of neonatal malformation using different genomic methods.
Time frame: In 30 days after receipt of the sample
Neurodevelopment(Bayley Scores)
To evaluate neurodevelopmental function by Bayley Scores of Infant Development Mental Development Index (MDI), gain Incidence of MDI\<70(Severe) or MDI\<85(Moderate)
Time frame: At corrected age of 18 months
Respiratory Support
To observe whether the clinical mornitoring will be changed after results disclosure
Time frame: In 14 days after results disclosure
Care Level
To observe whether the care level will be changed after results disclosure
Time frame: In 14 days after results disclosure
The total cost for hospitalization
Determination of utilization of healthcare resources in hospital charges in both arms.
Time frame: At corrected age of 18 months
Average days of hospitalization
From hospital to discharge.
Time frame: At corrected age of 18 months
Parents' understanding of study results
Assessed in parent surveys via questions assessing: subjective understanding, importance of understanding.
Time frame: At corrected age of 3 months
Parents' recall of study results
Assessed in parent surveys via questions assessing: results recall
Time frame: At corrected age of 3 months
Started Oct 2015 (actual). Primary completion is estimated for Dec 2025, 122 months after the start.
Of 94 non-industry observational studies under Genetic Diseases, Inborn, half reached primary completion within 124 months of starting (the median), counting those still running; a quarter within 46. This study's planned 122 months is close to that.
Counting every sponsor, half of 128 studies reached it within 110 months; a quarter within 46 and three quarters within 193.
How these figures are worked out, and which studies are left out of them.
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