Hospital teams up with six districts to offer premarital screening for rare diseases

Ahead of Thursday's World Rare Disease Day, Shanghai International Peace Maternity and Child Health Hospital has teamed up with facilities in six districts to offer premarital checks providing consultation and screening on rare diseases.

For women who have delivered children suspected with a rare disease, the hospital can offer free genetic screening thanks to a charity program offered by the Shanghai Soong Ching Ling Foundation, said Dr Wang Jian, vice president of Shanghai International Peace Maternity and Child Health Hospital on Tuesday.

"In the program, we will mainly focus on comparatively prevalent single-gene inherited disease such as thalassemia, spinal muscular atrophy, congenital adrenal hyperplasia through screening, testing and consultation to build the first prevention barrier for rare disease," Wang said.

Diseases with incidences lower than 1 per 10,000 are deemed rare diseases. There are over 7,000 rare diseases worldwide. About 80 percent are inherited, affecting some 350 million people globally and over 20 million in China. About half of rare disease sufferers are children. About 30 percent of children with rare diseases die before the age of five. Rare diseases are also responsible for 35 percent of infant deaths younger than a year old.

"Treatments for rare diseases include intervention before pregnancy, fetal screening and newborn treatment. Blocking before pregnancy is the most important and effective measure in rare disease prevention and control. Over 600 medicines for rare diseases have been developed in the world, but they only cover about 5 percent of rare diseases," Wang said.

"The treatment skills and methods in rare diseases are still very limited and genetic therapy is only in its starting stage and is very costly. For families with a history of rare diseases or having delivered a child with inborn defects, it is very important to do precise diagnosis to evaluate the risk of the next pregnancy. For those at high risk, the pre-implantation of genetic-testing technology, or PGT, can help select healthy embryos to block transmission of the sick gene in the family."

In addition to the high-risk population, experts also suggest people with low risk raise awareness and receive carrier screening, as such people may carry recessive pathogenic genes. Such screening can greatly reduce the risk of recessive inherited disease.