Babies鈥 rare disease woes highlighted
Print Edition
Inborn deformities and rare diseases have become the top causes of death for Chinese infants younger than 5 years old, local medical experts said during scientific speeches yesterday, World Rare Disease Day.
Rare disease means diseases with an incidence of lower than one in every 500,000 people, or one in every 10,000 newborn babies. There are more than 7,000 rare diseases recognized at present, with 80 percent inherited.
About half of the diseases develop during childhood, and 30 percent of children with rare diseases only make it to 5 years old.
There are nearly 20 million people suffering from rare diseases in China, and many more genetic carriers.
In China, about 5.6 percent of children are born with a congenital deformity, that is 1 million newborn babies each year. Prenatal deformities and rare diseases have seriously affected children鈥檚 health and overall population quality.
Prevention is the key to avoid deformity and rare disease. A trio-system system has been set up through pre-marriage checks and pre-pregnancy screening, prenatal screening and diagnosis, and newborn screening. Among them, prenatal screening and diagnosis is the most important, experts said.
With the development of molecular diagnosis technology, the ability to prevent and control prenatal deformity and rare disease have been increased quickly.
A rare disease cooperation network in the Yangtze River Delta region consisting of medical facilities in Shanghai and provinces of Jiangsu, Zhejiang and Anhui was set up in 2019.
So far, 14 leading medical facilities have participated in the network to offer high-quality service, share resources, and regulate clinical practice.
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