The Pilot Study of High-throughput Sequencing in Neonatal Birth Defects

The Pre-clinical Study of Genomic Sequencing for Birth Defects in Newborns

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.

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