Zhao Lijian, Chief Marketing Officer of Huada Gene Co., Ltd., shares with you the past, present and future of non-invasive prenatal genetic testing technology.
What is non-invasive prenatal genetic testing
Non-invasive prenatal genetic testing technology is collectively referred to as NIPT (Noninvasive prenatal test). It mainly extracts 5 ml of pregnant women's peripheral blood and extracts free DNA from plasma. After high-throughput sequencing and bioinformatics analysis, A technique for determining the risk of disease in a fetus with a chromosomal abnormality. This detection technique detects the entire chromosome of the fetus. At present, domestic reports of abnormal chromosome numbers 21, 18, and 13 can be accurately produced. Most experts have positioned non-invasive prenatal genetic testing technology as a prenatal screening method that approximates diagnosis.
The non-invasive prenatal genetic test of Huada Gene is called NIFTY. In 2010, Huada Gene registered the NIFTY trademark and received the first clinical sample worldwide. At present, NIFTY can detect all the chromosomes of the fetus (including normal, sex chromosome number, large fragment structure abnormality) for single and twin, including IVF, and can accurately report the abnormal number of chromosomes 21, 18, and 13 (according to relevant regulations) ), if other abnormalities are found, a supplementary report will be issued free of charge.
The emergence of non-invasive prenatal genetic testing technology is inevitable. Everyone has always regarded non-invasive prenatal technology as a milestone in clinical application since the Human Genome Project. It is also believed that the emergence of this technology will definitely change the entire prenatal screening and diagnosis. In the field, non-invasive prenatal genetic testing is the result of a combination of multiple factors that depend on demand drivers, scientific discoveries, technological breakthroughs, and capital push.
First of all, in terms of demand-driven, China’s birth defect rate is high, with 17 million newborns per year, 5.6% birth defect rate, nearly 7,000 genetic diseases, and 23,000 children with Down syndrome born each year. Both have led to a very high level of birth defects in China.
In order to cope with such a high rate of birth defects, China has used a system of prenatal screening and diagnosis for nearly ten years. At the earliest, we conducted B-ultrasound screening at the 11th and 13th gestational weeks, followed by early pregnancy and pregnancy. In the mid-term Down's screening, amniocentesis and prenatal diagnosis were performed for Down's high-risk pregnant women, followed by B-ultrasound. The emergence of this system played a role in reducing a certain number of birth defects. However, there are certain drawbacks, that is, the prevalence rate of serological screening is 66% to 83%, and accompanied by a false positive rate of more than 5%, and a traumatic prenatal diagnosis will bring about a certain miscarriage, Even the risk of suffocation, so new technologies are urgently needed.
In 1947, two French scientists discovered the presence of free DNA in peripheral blood, and then scientists discovered the presence of free DNA in patients with malignant tumors. Until 1997, Dennis Lo of the Chinese University of Hong Kong confirmed the presence of maternal peripheral blood. The free DNA of the fetus thus lays the theoretical foundation for non-invasive prenatal genetic testing.
Fetal free DNA is derived from fetal cells and apoptosis of the trophoblast cells of the placenta. It is generally believed that fetal free DNA can be detected from the 5th week of pregnancy, which will increase with the increase of gestational age, and there are individual differences, but Fragments of free DNA are small and are generally considered to be 166 BP on average and disappear within a short time after delivery.
The Human Genome Project enables us to achieve leapfrog development from participation to synchronization in genomics research, especially to establish our leading position in genomics. With the emergence of high-throughput sequencing technology in recent years, it is also the genome. The study of learning provides a better foundation. At the same time, this technology has also shifted from the basic genomic structure research hotspot to the promotion of medical practice. Non-invasive prenatal genetic testing technology based on high-throughput sequencing has emerged.
Non-invasive prenatal genetic testing technology (registered trademark NIFTY)
Huada Gene was the first to participate in the development of non-invasive prenatal genetic testing technology. We established a high-throughput sequencing platform in 2006, and established a methodology for non-invasive prenatal genetic testing in 2008, which completed 3177 from 2009 to 2010. Clinical trials. The earliest clinical use in the world in December 2010. The earliest published articles between Huada Gene and the Chinese University of Hong Kong were in January 2011 and July 2011, and 86 cases of 21-three bodies were detected for more than 700 high-risk pregnant women. In 392 high-risk pregnant women, 25 cases of 13-trisomy and 37 cases of 18-trisomy were detected, and all detection rates and specificities were close to the diagnostic level. Since 2011, Huada Gene has published 37 articles in this field, involving methodology, multi-center clinical research, special cases, non-invasive detection of twins, non-invasive detection of IVF, non-invasive microdeletion microduplication, Non-invasive whole genomes, etc., have always maintained a global lead in scientific research.
From 2009 to 2011, we completed 3177 clinical specimens in Shenzhen People's Hospital, Shenzhen Maternal and Child Health Hospital and Zhuhai Maternal and Child Health Hospital. The final results show that the accuracy of this detection technology can reach more than 99%, so we believe that this detection technology can be gradually applied to clinical practice.
On September 9, 2010, Huada Gene signed an agreement with Beijing Maternity Hospital to become the first hospital in the world to clinically apply non-invasive prenatal genetic testing technology. On December 6, the same year, the world's first pregnant woman who received non-invasive prenatal genetic testing.
Non-invasive prenatal genetic testing technology has also been gradually recognized by industry experts. In March 2011, at the Third Perinatal Medical Association, Huada Gene NIFTY was the first officially published clinical result in China. In September 2011, At the first Fetal Medicine Conference, domestic experts began to pay close attention to non-invasive prenatal genetic testing technology. Until April 2012, the domestic prenatal diagnostic expert group meeting reached a consensus. In June 2012, global experts at the International Conference on Prenatal Diagnostics formed a consensus. Industry associations have also issued relevant guidance, and our prenatal diagnostic expert group has positioned this detection technology as a new technology for prenatal screening that is similar to the diagnostic level.
Subsequently, the ACOG Association, ISPD, etc. in the United States gave a very high evaluation of this detection technology.
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