“Even though some genetic disorders like Madelung’s deformity (Léri-Weill dyschondrosteosis) have been found for more than 100 years, we still haven’t developed any good intervention technologies preventing them from passing on to the next generation.”
In the Reproductive Medicine Session of the 8th U.S.-China Health Summit, Huang Hefeng shared a case in which her team had helped a mother suffering Léri-Weill dyschondrosteosis to give birth to a healthy baby successfully.
HUANG Hefeng, President, the International Peace Maternal and Child Health Hospital affiliated to Shanghai Jiaotong University School of Medicine; Academician, China Academy of Science
"Epigenetic Disease and Embryo Genetic Diagnosis"
Huang Hefeng introduced that this was the first case in the world that Madelung’s deformity caused by pathogenic gene was successfully blocked with gene-based PGD technology detection. Through non-stop clinical researches like case studies, gene validation, embryo culturing, screening and so on, her team has finally overcome the various technical difficulties, screened out a genetically normal embryo, implanted the embryo into the uterine cavity, and acquired a normal fetus.
For the pregnant women taking test tube baby programs, Huang Hefeng reminded that they should complete genetic carrier screening tests in the second trimester of pregnancy. Huang believed that families with genetic disorders could also have healthy babies and assisted reproductive technology had made it possible. In the future, PDG technology would bring hope to more families with genetic disorders.