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Improving reproductive health requires technological innovation
Population issues are fundamental, global, and strategic issues that humanity faces together. Having healthy children is of great significance to families and society. Currently, China has entered an era of negative population growth. There are 18% of infertile families in China, and the proportion of birth defects among newborns is as high as 5.6%. Increasing the birth rate and achieving eugenics have become national needs.
In order to improve the current situation, various reproductive health medical services and diagnostic and treatment methods are continuously applied to the fields of reproduction and obstetrics and gynecology. In particular, various genetic technologies are continuously applied in clinical practice, effectively improving reproductive health. However, there are still many clinical needs that have not been met in their application.
As for the reasons,The outcomes of reproduction are mainly determined by two major factors: genetic factors and developmental factors.In the past, it was clinically impossible to detect the developmental status of embryos, and only genetic factors were examined, thus missing half of the picture.Epigenetic information is the most direct indicator of development, and it can reflect whether the embryo's developmental state and the physiological status of the pregnant woman are normal. By detecting epigenetic information, it is possible to change the dilemma of being unable to monitor embryonic development status and physiological and pathological conditions of pregnant women clinically, improve reproductive health levels, and thus promote innovation in reproductive medicine.
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Epigenetic testing can improve birth efficiency and reduce birth defects
According to the 'China Birth Defect Prevention and Control Report' by the National Health Commission, the total incidence of birth defects in China is estimated to be about 5.6%, becoming a major public health issue. Birth defects not only seriously endanger children's survival and quality of life, affect family happiness and harmony, but also cause potential life loss and socio-economic burden for populations. There are numerous types of birth defects, with at least 8,000 to 10,000 known from mild to severe conditions, usually including congenital malformations, genetic metabolic diseases, and functional abnormalities such as blindness, deafness, and intellectual disabilities. Previous technical methods for exploring birth defects mainly focused on gene mutations or environmental factors, but they can only explain less than half of the causes of birth defects.
Figure: Birth defects in China are gradually becoming the leading cause of infant mortality
China's Birth Defect-related Data | Source: 'China Birth Defect Prevention and Control Report'
The reason for this is that previous explorations mainly explained birth defects through DNA mutations, ignoringBirth defects caused by abnormal gene expression regulation during development.The development process is actually a process of epigenetic regulation. Epigenetics refers to the modification of gene expression patterns without changing the DNA sequence. If DNA is compared to the hardware of a computer, then epigenetic information is like the software of the computer. Hardware errors can lead to the computer being paralyzed or some functions not functioning properly, which means that mutations in the DNA sequence can cause miscarriage or birth defects; similarly, if the software is written incorrectly or epigenetic information programming is faulty, similar results can occur. The DNA sequence should remain unchanged in various cells and at different stages of development, but epigenetic information is different. During development, epigenetic information undergoes programming and reprogramming changes. Epigenetic programming and reprogramming determine embryonic development, cell differentiation, and the formation of tissues and organs, and errors are also likely to occur during the reprogramming process of epigenetic information.
Errors in epigenetic information can directly lead to pregnancy failure or developmental arrest.Through research on human reproduction, it has been found that the state of DNA methylation maps directly affects the birth rate of embryos. Mutations in DNA methylation can also lead to birth defects, but our understanding of their causes is extremely limited. We only know that the occurrence of several imprinting gene diseases is caused by abnormal DNA methylation, and aside from that, we know very little.
For a long time, there have been no effective technical means or methods to study which epigenetic mutations occur during development, as well as the impact of these mutations on birth defects. Recently, with the development of single-cell epigenetics technology, preimplantation DNA methylation screening techniques have been created, which can detect epigenetic mutations in embryos and identify new birth defects caused by DNA methylation. It is believed that through the joint efforts of scientists and clinicians, new understanding will be gained about the other half of unknown causes of birth defects.
Using DNA methylation screening technology to screen natural childbirth and in vitro fertilization (IVF) populations can achieve the screening of epigenetic diseases before embryo transfer and prenatal stages, thereby minimizing the risk of epigenetic diseases.Utilizing this technology can not only improve the success rate of embryo transfer but also reduce the proportion of birth defects. It is believed that in the next few years, this technology can be extended to other application scenarios, especially for non-invasive prenatal screening, which will have significant medical value.
Image source: Ctrip Photography Network | Commercial authorization has been obtained
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Epigenetic testing for infertility causes in women of childbearing ageProvide preconception strategies
Epigenetic information is the switch of human genes, akin to a software program. It controls the gene expression of tissues and organs. Life activities are dynamic, so epigenetic programs also change with the course of life. In the healthy biological cycle, our tissues and organs execute default programs. However, we sometimes face sudden changes in our living state or environment, various pressures, and even disease conditions, which require us to adjust epigenetic programs and change the gene expression of tissues and organs to adjust their state, thereby adapting to external and internal changes and ensuring the health and normal functioning of tissues and organs. But in some unexpected moments, epigenetic programs make mistakes, leading to abnormal functions of tissues and organs, that is, the emergence of pathological states.
Abnormalities in the uterus and ovaries are one of the important causes of female infertility, and these abnormalities are directly reflected in epigenetic information. Currently, clinically it has been found that 5%-10% of women suffer from polycystic ovary syndrome (PCOS), who often cannot ovulate normally; some women have irregular menstrual cycles, and about 10% of them cannot conceive due to this; 10-15% of women of childbearing age suffer from endometriosis; some women experience premature ovarian failure, etc.
A large portion of the aforementioned pathological abnormalities cannot be elucidated by genetic methods.Using epigenetic information to detect the status of the uterus and ovaries can provide more complete information, thereby assisting in formulating correct preconception strategies. This will be a direction that epigenetic detection technology can break through in the future.Currently, some institutions are also conducting relevant research and development, showing promising results. For example, using epigenetic information to correct the window of uterine receptivity has helped patients with deviations achieve successful pregnancies. The detection of physiological and pathological states of women's ovaries and uterus also aids in the health management of this group of women. The development and application of epigenetic clocks, among other things, indicate that epigenetic detection technology has future prospects for use in anti-aging and medical aesthetics industries.
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Epigenetic information aids in the early diagnosis and prevention of pregnancy-related diseases
After a woman becomes pregnant, significant changes occur in metabolism and other processes to provide sufficient nutrition for the fetus. Hypertension and diabetes during pregnancy are the most common diseases, with about 20% of pregnant women developing gestational diabetes and about 2-5% developing gestational hypertension. Gestational diabetes increases the risk of miscarriage, causes macrosomia, leads to dystocia, and some patients develop type 2 diabetes after childbirth. It also increases the likelihood of neonatal obesity, metabolic diseases, and even fetal malformations. Preeclampsia, caused by hypertensive disorders in pregnant women, is the second leading cause of maternal death.
In the face of these two types of diseases, current clinical practice often relies on biochemical and metabolite tests, which can only be conducted after 20 weeks of pregnancy when the disease has already occurred or is about to occur, making it impossible for early risk screening and diagnosis to be carried out. However, recent research has found that epigenetic maps can predict both diseases around 10 weeks after pregnancy. Applying this discovery to clinical practice can provide strategies for early intervention, thereby reducing the occurrence of related diseases.
Image source: Ctrip Photography Network | Commercial authorization has been obtained
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Epigenetics has a huge application market in the medical field
Epigenetic testing can cover the entire field of reproduction, obstetrics and gynecology, and neonatology, including preconception management, infertility treatment, birth defect screening, and pregnancy disease detection. It has significant social and clinical value, as well as a huge market demand.According to Frost & Sullivan data, the number of women of childbearing age (15 - 49 years old) in China reached 322 million in 2020, with about 40 million couples planning to conceive. Conducting corresponding screening tests for the reproductive population would unlock a market potential exceeding 550 billion.
Epigenetic detection technology will further unleash market potential, but the entire field has just begun. Guangzhou Nuwa Life Technology Co., Ltd. is a pioneer in this field, leading epigenetics into the fields of obstetrics and gynecology and reproduction. Nuwa Life has made arrangements, research and development, product transformation, and clinical applications in the entire field of obstetrics and gynecology and reproduction.
It is foreseeable that epigenetic testing technology will be increasingly applied in the human reproductive process, 'escorting' for better birth outcomes; it is also expected to gradually enter the fields of women's health care, anti-aging, and medical aesthetics.
