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首页 About News Center Corporate Update Community Impact An Extra Chromosome, An Extra Love: Understanding Down Syndrome on World Down Syndrome Day

An Extra Chromosome, An Extra Love: Understanding Down Syndrome on World Down Syndrome Day

March 21, 2025 Views:

March 21 marks World Down Syndrome Day, a day dedicated to raising awareness and fostering inclusivity for individuals born with an extra copy of chromosome 21 - affectionately known as "Sunshine Kids." Though individuals with Down syndrome may face challenges in learning and daily life, their pure hearts and bright smiles make the world a warmer place.


图片 2.jpgWorld Down Syndrome Day 2025 emphasizes the theme 'Improve Our Support System,' calling attention to the importance of building comprehensive networks that empower individuals with Down syndrome and their families to lead fulfilling, meaningful lives. (Photo: Shutterstock)



Down Syndrome, clinically known as trisomy 21, is among the most common congenital conditions affecting newborns. It is caused by an additional copy of chromosome 21 and occurs in approximately one in every 1,000 live births worldwide. Each year, approximately 3,000 to 5,000 children are born with this chromosome disorder. The condition is characterized by intellectual disability, distinctive facial features, developmental delays, and potential health complications such as congenital heart defects and hearing impairments.


First described in 1866 by Dr. John Langdon Down, the syndrome was later confirmed as a chromosomal disorder through karyotype analysis in 1959. Any couple - regardless of race, socioeconomic status, or education background - can have a child with Down syndrome, although studies show that the risk increases with maternal age, particularly for women over 35.


For many families, early knowledge of fetal health is essential in making informed decisions and preparing for the future care. Traditional screening methods, such as amniocentesis or chorionic villus sampling (CVS), although accurate, carry inherent risks due to their invasive nature and may cause discomfort or complications for the maternity patient.


Advancements in genetic science in the early 21st Century led to the development of Non-Invasive Prenatal Testing (NIPT), a groundbreaking diagnostic tool and solution for prenatal examines. This test requires only a small amount of blood from the mother and can accurately assesses the likelihood of Down syndrome. A significant advantage of NIPT is its ability to minimize procedural risks and maternal discomfort.


As a global leader in life sciences, BGI Group is dedicated to applying genetic technology to clinical practice. As of June 2024, BGI Genomics, a subsidiary of BGI Group, had successfully partnered with over 160 hospitals across China and expanded its NIPT services worldwide, providing essential support to expectant parents. 


The theme of the 14th World Down Syndrome Day in 2025 is "Improve Our Support System," highlighting the critical need for a comprehensive support network to assist individuals with Down syndrome and their families in leading fulfilling lives. BGI Group remains dedicated to enhancing this support through scientific research, medical solutions, and philanthropic initiatives.


In addition to prenatal testing, BGI Group actively engages in public awareness campaigns and community support programs for people with Down syndrome. In 2019, BGI Genomics collaborated with partner enterprises, individuals, and fellow charitable organizations to launch a special public welfare initiative. This initiative calls on society not only to focus on prenatal health but also to pay attention to and care for older individuals with Down syndrome who are already living among us.


Through its scientific advancements and community outreach, BGI Group remains committed to improving the lives of individuals with Down syndrome, reinforcing the global support system needed to create a more inclusive society.