Hospital screens for inherited diseases
Pre-pregnancy genetic screening for over 100 common inherited diseases are now available at a city hospital.
The project, which is called "carrier genetic testing for 100 genetic disorders and fragile X syndrome," can screen 101 diseases through one genetic package by testing couples' blood samples.
All the diseases are recessive diseases, which means people have genetic mutations but do not show symptoms. The mutations can pass down to their children, who are at risk of developing symptoms.
“Congenital deformity and inherited diseases have become major public health problems in China. Our purpose is to conduct checks and intervention before pregnancy to ensure the health of children and reduce harm to both pregnant women and children,” said Dr Chen Songchang, head of Shanghai International Peace Maternity and Child Health Hospital’s molecular diagnosis group.
The hospital is currently the only facility in the city with such packaged pre-pregnancy screening for 101 genetic diseases for couples planning to start a family. Similar checks for specific genetic disease are available in other hospitals.
“Each person may carry certain genetic mutations, even though he or she is healthy. The possibility of carrying mutations for certain inherited diseases can be as high as one in 45, such as spinal muscular atrophy, a collection of progressive inherited neuromuscular diseases. We offer screening for couples and give evaluation on the risks. Medical suggestions like in vitro fertilization will be offered if the risk of a sick child is over 10 percent,” Chen said.
During IVF, doctors can conduct pre-implantation genetic-testing technology, or PGT, through which doctors conduct genetic testing on embryos and select healthy embryos for transplant to prevent genetic diseases.
The technology is also used for couples who have delivered a sick child and want their second child to be healthy.
Dr Wang Li, director of the hospital's IVF lab, said an imported machine is able to enhance efficiency and accuracy to help doctors monitor the process and help select the most healthy embryos during IVF and PGT.
“The machine takes pictures of cell fertilization, split to growth within six days of IVF every 10 minutes and offers AI-assisted support for doctors to judge the quality of embryos,” said Wang. “Previously, medical staff had to take out the cells from incubator under a microscope for personal observation. The process may influence the growth of cells and we may miss certain issues during observation intervals.
“With the machine, we can have a better understanding of each embryo and know the miracle process inside a woman’s body for further medical research,” she said. “We are working on our own model through a combination of the machine’s AI system to develop clinical practice more in line with our hospital.”
About 30 million Chinese families have delivered children with birth defects with nearly 40 percent having some kind of disability.
Early diagnosis is better for intervention and defect control. One child is born with a congenital defect in China every 30 seconds.
Around the world, 5 million children are born with congenital defects every year. In China, the incidence is 5.6 percent, which means 800,000 to 1 million children are born with defects, or 20 percent of global cases.