政府新闻
先进基因测试 帮助遗传病家庭产出健康小宝宝 2023-12-25
Hai Deng, with a rare KIT genetic mutation, looks at his healthy infant girl, the world's first baby whose risk of inheriting KIT mutation-related diseases from the family was blocked.
A healthy baby girl was recently delivered in Shanghai through advanced genetic consultation and testing techniques that made her the world's first baby whose risk of inheriting KIT mutation-related diseases from the family was blocked.
Both of the baby's grandfather and father have dark skin – diagnosed as familial hyperpigmentation, which features hyperpigmented patches that increase in size and number with age.
Hai Deng, the baby's father hailing from central China's Hubei Province, finally got a diagnosis when he was 16 years old, which said the disease was due to a rare KIT genetic mutation, which can cause problems like hyperpigmentation and gastrointestinal stromal tumors. KIT is a protein coding gene.
Both of Hai Deng and his father were found with the mutation. His father suffered from the gastrointestinal tumor five years ago.
In order to end the family's nightmare and have a healthy baby, Hai Deng and his wife went to Shanghai First Maternity and Infant Hospital's rare disease multidisciplinary diagnosis and treatment team.
"The risk for the couple to deliver a sick baby through natural birth was 50 percent after detailed genetic testing and evaluation," said Dr Li Xiaocui, the hospital's vice president.
"So we suggested that they receive an advanced pre-implantation genetic testing, through which doctors conduct genetic testing on embryos and select healthy embryos for transplantation to prevent genetic diseases.
"Among the five embryos, we found two healthy ones. The wife received one and was able to deliver a healthy baby this time.
"It is the first time that the technology was used for a family to block the risk of KIT mutation-related diseases," she added.
Hai said he was very grateful to have a healthy baby, having suffered severe mental pressure due to the dark skin when he was young.
Doctors said families with a history of rare disease or certain cancers can receive genetic testing and consultation before pregnancy to identity the risk and undergo proper medical service to help delivery healthy babies.
Source: Shanghai Daily
