A new genetic disease screening program for newborns independently developed was released


Beijing, Feb. 18 (Reporter Zhan Yuan) The National Children’s Medical Center and Beijing Children’s Hospital affiliated to Capital Medical University held a seminar on new screening technologies for newborn diseases on Feb. 18, and released a new genetic screening program for newborn babies independently developed.It is understood that this program is based on the rapid development of high-throughput sequencing technology in recent years, based on the investigation of children with genetic diseases admitted to Beijing Children’s Hospital over the years, combined with who’s newborn disease screening principles, independently developed and designed targeted sequencing program.Screening for more than 200 kinds of serious genetic diseases with early onset and relatively high incidence that can be interfered with is relatively common in China, involving more than 500 pathogenic genes.Under the leadership of Professor Ni Xin, director of The National Children’s Medical Center and president of Beijing Children’s Hospital, and led by Li Wei, vice president of Beijing Children’s Hospital, the medical genetics expert team developed the program independently for six years, and named the promotion and application of the program as “New Nest Plan”.According to Li wei, the program is challenging the “no man’s land” for the diagnosis of genetic diseases in asymptomatic newborns.New Nest has three significant advantages over traditional newborn screening.One is to expand screening for diseases.It not only covers the genetic metabolic diseases involved in tandem mass spectrometry (nearly 50 kinds), but also integrates the high-incidence diseases in different regions, almost covering all the 121 rare disease catalogues published in the first batch in China.Second, it has high accuracy. Genome-based screening schemes can provide earlier and more accurate information of disease risk through large samples and closed-loop management verification, and the screening cycle can be controlled within 11 days after birth.Third, simplify the work flow of medical care and reduce family anxiety.The “New Nest Plan” will “cage” the existing new screening schemes together, avoiding the problem of multiple collection of neonatal heel blood, effectively simplifying the work process and reducing anxiety of newborn families.Based on this protocol, the researchers conducted retrospective screening of 11,484 infants distributed in 8 maternal and child health care institutions in different regions of China, and the diagnostic rate of single-gene genetic diseases in newborns was about 0.95%.The results showed that single-gene genetic diseases accounted for a large proportion of newborn birth defects.Clinical follow-up and genetic counseling were conducted on the positive neonates, and 17 cases were confirmed, all of which were confirmed within 2 months of birth.This provides a timely and reliable basis for early intervention, reduction of disease hazards and family fertility guidance.At the same time, all the confirmed children have been treated in time through the Green Channel of Beijing Children’s Hospital under the “New Nest Plan”, and 2 of them have completed partial surgical treatment at an selected time.Relying on a professional genetic diagnosis and counseling team, as well as the pediatric hierarchical diagnosis and treatment system network of Beijing Children’s Hospital of National Children’s Medical Center, the “New Nest Plan” realizes the closed-loop management of the whole process, effectively avoiding the risk of “screening without diagnosis, screening without treatment”.It is understood that the “new Nest plan” will be further promoted nationwide by relying on the Futang Children’s Medical Development Research Center;Service network at the same time, through the cooperation unit, and to our country each year about 10 million newborn babies with birth defects tertiary prevention services, expanding the scope of the neonatal disease screening for diseases, genetic birth defects in implementation of “early screening, early detection and treated early, in order to effectively reduce birth defects in our country brings to the individual, family and social health and economic burden of multiple.

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