Source of this article: Entrepreneurial Circle Author: Yu Kun
March 21 is the 11th World Down Syndrome Day, as a pioneer enterprise in the field of reproductive health, Berry Gene held a series of public welfare activities of "Medical Action, Joint Control of Tang". In addition to the live broadcast of online public welfare lectures, Berry Gene also cooperated with the Second Affiliated Hospital of Guangxi Medical University, Henan Provincial People's Hospital, Jinan Maternal and Child Health Hospital, Jiaozuo Maternal and Child Health Hospital, Ningxia Autonomous Region Maternal and Child Health Hospital, Zhongshan People's Hospital and other hospitals to carry out offline free clinic activities, and provide free NIPT (non-invasive prenatal screening) testing for eligible patients, so as to strengthen science popularization and enhance public attention to patients with Down syndrome, so as to better prevent birth defects.
Healthy couples may still have a baby
Down syndrome, also known as trisomy 21, is often referred to as "Baby Tang." The reason why World Down Syndrome Day is set on March 21 every year is because ordinary people have 46 chromosomes, while Tang Babies have 47, and it is chromosome 21 that becomes trisomy.
The clinical features of Tang Baobao are mainly special facial features, intellectual disability, growth retardation, and some people are accompanied by congenital heart disease and other abnormalities. From a therapeutic point of view, Down syndrome cannot be cured.
If there is no Down syndrome patient at home, will not have a Tang baby? This is not the case, although Down syndrome is a genetic disease, but it is a genetic disease with new mutations, which is an accidental and sudden event. In other words, even a healthy couple may still have a baby Tang.
Antenatal screening is a more effective prevention and treatment
The theme of this year's World Down Syndrome Day is "Attach importance to Down's screening and give birth to healthy babies", which aims to improve the awareness and attention of the whole society to Down syndrome, guide women to take the initiative to receive Down's screening after pregnancy, do a good job in pregnancy health care, and scientifically conceive healthy new life.
At present, timely intervention through prenatal screening and prenatal diagnosis is a more effective measure to prevent Down syndrome. At the same time, the study found that the risk of Down syndrome is also closely related to the age of pregnancy, and the importance of prenatal screening is more prominent when the three-child policy is relaxed, and there are more and more elderly women.
Today, various prenatal screening techniques for Down syndrome are widely used in the clinic. As one of the leaders of NIPT (non-invasive prenatal screening) in China, Berry Gene started early and developed rapidly in this field, witnessing the whole process of NIPT in China from 0 to 1, from few knowers to gradually being accepted by the clinic.
As early as 2011, Berry Gene took the lead in launching the core product Bebian in the market, relying on the new generation of high-throughput sequencer NextSeq CN500 platform, using patented PCR-free core library building technology, only 10ml of pregnant women's peripheral blood needs to be drawn to accurately screen for fetal Down syndrome (T21) and other disease risks. The big data on the return visit of 1 million people tested by NIPT showed that the detection rate of Down syndrome (T21) was greater than 99%. As an upgraded version of Bebian, Bebian Plus has achieved an upgrade from detecting three to detecting more than 100 fetal chromosomal diseases.
Over the years, based on NIPT technology, Berry Gene has screened out more than 10,000 cases of down syndrome fetuses, reducing the economic burden of tens of billions of yuan for society and families. In 2021, Berry Gene NIPT products were included in the Beijing Medical Insurance Payment Directory for the first time.
A full product layout helps prevent birth defects
In addition to the detection of Down syndrome, in the field of reproductive health, Berry Gene has continuously improved its technology and optimized processes, and genetic testing products and services have become increasingly abundant, playing an important role in the three-level prevention system of birth defects.
In terms of first-level pre-pregnancy prevention, Berry Gene recently released the Extended Carrier Screening (Standard Version) to provide better protection for couples who are preparing for pregnancy, first trimester pregnancy, and assisted reproduction. In addition, Berry Gene also has deafness test (BetaCity), folic acid metabolism gene testing, preimplantation genetic screening (Kegnan) and other products.
In terms of secondary prenatal prevention, in addition to Bebian and Bebian Plus, the company carries out "Konoan" chromosome copy number variation detection (CNV-seq) in the field of prenatal diagnosis and flow product genetics detection, and assisted diagnosis business of fetal total exome sequencing (WES) for B-ultrastructural abnormalities.
In terms of tertiary neonatal prevention, Berry Gene mainly carries out whole-exome sequencing (WES) and whole genome sequencing (WGS) around childhood genetic diseases.
At present, Berry Gene has carried out in-depth clinical and scientific research cooperation with more than 2,000 hospitals at home and abroad, and NIPT-related products occupy more than 30% of the national market share. Gao Yang, chairman and general manager of Berry Gene, said, "Taking NIPT as the starting point, the company has continuously polished its technology and improved its layout over the years to provide continuous assistance for the national three-level prevention of birth defects. In the future, we will further achieve full coverage of product pipelines, provide protection for the reproductive health of thousands of households, and help eugenics. ”