1866, Dr. John Langdon Down first fully described the typical signs of Down syndrome , so it was named Down syndrome (Down syndrome). In 1959, Down syndrome was confirmed by chromosomal abnormalities.
In December 2011, UN General Assembly designated March 21 as World Down Syndrome Day.
On March 21, 2022, the eleventh World Down Syndrome Day was ushered in.
Down syndrome, namely trisomy syndrome, also known as congenital foolish type, is a disease caused by chromosomal abnormalities (with an additional 21 chromosome ). The incidence rate of newborns is about 1/1000 to 2/1000. According to the current birth rate in our country, an average of one child with Down is born in 20 minutes. The incidence of this disease increases with the increase of the mother's childbearing age, especially when the mother is older than 35 years old, the incidence rate increases significantly. Down patients have many clinical manifestations, mainly manifested as mental retardation, developmental delay, special face and multiple deformities. In severe cases, they are also accompanied by congenital heart disease, , digestive system deformities, etc.
How to prevent Down syndrome?
Prenatal prevention
Through prenatal ultrasound and Down's screening, non-invasive fetal chromosomal aneuploid screening, as well as invasive examinations such as amniotic fluid puncture, etc., determine whether the fetus may be a child.
Pre-pregnancy prevention
Third-generation IVF—PGT technology : refers to an assisted reproductive technology in which healthy embryos are successfully paired with sperm and eggs of both men and women, culture the fertilized eggs into blastocyst , and then blastocyst trophoblast cells are drawn as samples for genetic diagnosis or chromosome screening, thereby selecting healthy embryos for maternal uterine transplantation pregnancy. It mainly includes PGT-A, PGT-M and PGT-SR. For patients over 38 years old with fertility disorders, PGT-A technology can not only solve the fertility problem, but also effectively block the birth of Down's children, and also effectively avoid physical and mental pain caused by termination of pregnancy.
It is understood that in April 2018, the first PGT baby in the Department of Reproductive Medicine, the Third Affiliated Hospital of Zhengzhou University (Provincial Maternal and Child Health Hospital, Provincial Women and Children's Hospital) was born. At present, the Department of Reproductive Medicine of the Third Affiliated Hospital of Zhengzhou University has conducted more than 700 PGT cycles, and nearly 200 healthy babies born through PGT technology have been conducted.
hopes to truly realize the Leave no one behind by allowing more people to understand the clinical manifestations and prevention of Down syndrome (not letting anyone fall behind ) called for.
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Article: Department of Reproductive Medicine Cui Yuanrong
Edited by: Liang Xiao
Review: Hua Xiaoya Shi Yanxiang
Review: Hua Xiaoya Shi Yanxiang
