Birth Defect, Congenital Malformation, Genetic Diseases, Multiple Malformation, Newborn; Fit
Conditions
Brief summary
In China, birth defects can reach as high as 5.6%, about 900,000 new cases of birth defects are added each year, making it the second cause of death for infants, with a total death rate of 19.1%. At present, China implements the three-level prevention and control system for birth defects, which is performed before marriage, before birth, and during the neonatal period. Newborn screening is the last line of defense against birth defects. Early screening diagnosis and timely intervention are extremely important, especially for diseases which can be preventive and treatable. This study aims to evaluate the clinical application of high-throughput targeting sequencing in newborns, and investigate whether this new technology can significantly shorten the time of examination, improve the diagnosis rate, guide the intervention treatments and promote prognosis for these disease.
Interventions
DIAGNOSTIC_TESTNGS panel
A next-generation-sequencing panel, which contains a group of genes that specifically cause disease, for mutational analysis in newborns.
Sponsors
Northwest Women's and Children's Hospital, Xi'an, Shaanxi
Maternal and Child Health Hospital of Hubei Province
The First Hospital of Jilin University
Xuzhou Maternity and Child Health Care Hospital
Children's Hospital of Chongqing Medical University
Study design
Observational model
OTHER
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
1 Minutes to 28 Days
Healthy volunteers
No
Inclusion criteria
1. Neonates in one of the study hospitals 2. Abnormal laboratory testing or abnormal response to standard therapy suggestive of a genetic disease
Exclusion criteria
1. Any infant whose genome has been shown to have large chromosomal aberration (Trisomy 13, 18, 21 or other) 2. Any infant in which clinical considerations preclude drawing 1.0 ml of peripheral blood 3. Parents refuse consent
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Mortality | At corrected age of 18 months | Incidence of death |
| Disability Rate | At corrected age of 18 months | Incidence of disability. 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. |
| Allele Frequency | In 120 days after receipt of all the patients' sequencing data | Allele frequency, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in the population the investigators studied, expressed as a percentage. |
Countries
China
Outcome results
None listed