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.
Eligibility
Sex
ALL
Min age
—
Max age
28 Days
Healthy volunteers
No
Inclusion Criteria:
One of the following criteria required.
1. Neonates admitted to the Neonatal Intensive Care Units in one of the study hospitals
2. Clinical genetic testing or a genetic consult is ordered
3. Subject has one major structural anomaly or three or more minor anomalies
4. Abnormal laboratory testing suggestive of a genetic disease
5. Abnormal response to standard therapy for a major underlying condition
Exclusion Criteria:
1. Previously performed exome/genome sequencing on patient
2. Any infant in which clinical considerations preclude drawing 1.0 ml of blood
3. Has features pathognomonic for a large chromosomal aberration (Trisomy 13, 18, 21 or other)
4. Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician
5. Parents refuse consent
Primary outcome measure(s)
Mortality — At corrected age of 18 months The relative frequency of deaths in each group.
Disability Rate — At corrected age of 18 months 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.
Gene Mutation — In 30 days after receipt of the sample To detect the mutation and characterize the genetic architecture and risk variants of neonatal malformation using different genomic methods.
Trial sites (1)
Facility
City
Region
Status
Children Hospital of Fudan University
Shanghai
Shanghai Municipality
Recruiting
More Children's Hospital of Fudan University trials in China
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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