If you are a future parent, talk to your doctor about your baby`s risk of congenital disease. They can help you understand screening and treatment options and give you advice for future care. With an environmental cause, the baby is exposed to something during pregnancy that causes a congenital disease. This may include an infection or chemicals that affect the baby at a critical stage of development. If you have a personal or family history of certain congenital disorders, you can get a genetic test before you become pregnant. You may want to meet with a genetic counselor to organize your family history, the likelihood that your baby will have congenital disorders, and possibly genetic testing. Other things you can do to try to prevent congenital disorders include: Most complex congenital syndromes – that is, the simultaneous appearance of multiple abnormalities and growth deficit – should be considered the result of autosomal recessive heredity or tiny chromosomal changes until proven otherwise. Some complex syndromes are associated with mental retardation, while others predispose the fetus to malignant tumors or immunodeficiencies. Causal genetic mutations have been identified in several of these diseases. Disorders such as congenital shortness of breath with abnormal body proportions are often genetic and affect the skeleton, connective tissue and cells.
Defects in excessive growth of the whole body or part of the body may indicate a predisposition to the formation of tumors in an organ or tissue. The second article summarizes the general approach used, provides an overview of its strengths and limitations, and presents selected results by WHO Region and around the world. In particular, it shows that the initial prevalence of childbirth (in the absence of intervention) of constitutional congenital disorders is relatively constant in a given population and that the only possible outcomes are fetal death, early mortality, disability or recovery. This unique feature offers exceptional benefits from an epidemiological perspective, as the prevalence of birth at baseline provides both a solid starting point for quantitatively assessing the impact of interventions and a framework that must be filled by the sum of the outcomes. That is, these groups of disturbances can be treated as closed systems. Innate. Innate is not really a great descriptive term for what it means. It`s really just a traditional way doctors communicate that a disease, disorder or trait has been seen, or at least thought to have come from the time of pregnancy and childbirth. For example, terms such as congenital heart defects refer to structural abnormalities in the heart that are detected shortly after birth or at the time of birth and distinguish them from more complex conditions such as coronary heart disease, which usually develops with age. Previous international policy recommendations have focused on preventing congenital environmental disturbances, as public health initiatives, including vaccination, micronutrient supplementation, prevention of harmful exposures, and appropriate pregnancy care, can reduce their prevalence by 90% or more.
We estimate that as a result, their global prevalence of births has decreased by about 50%, so that they now account for about 15% of total congenital disorders. In contrast, the much larger group of constitutional disorders has been relatively neglected in public health policy, although their importance is evident as other causes of early mortality and disability are brought under control and countries evolve epidemiologically. The biggest challenge that remains is to develop effective strategies for the prevention and treatment of this large and diverse group of disorders. In most cases, the cause of a congenital disease is unknown. If the cause is determined, it may be an environmental, genetic, or a combination of both. In response, an international group of experts met to identify, compile, interpret and triangulate epidemiological information from various sources and link it to global demographic data in order to estimate the prevalence of births and outcomes of constitutional congenital disorders at the national, WHO and global levels, and to estimate the results in the scientific language of public health. Express. The outputs of this process included the prototype of the implementation of MGDb and related methods (subject of this special issue) as well as the online publication of the first country-specific data (table annexes, published as part of Modell et al.
2016) with corresponding resources collected on a dedicated website.1 At the international level, they should provide authorities, including WHO and global burden of disease studies, with encouraging an increase in congenital disorders in the global health rankings. Priorities. At the national level, they can contribute to the appropriate development of programmes for the prevention and treatment of congenital disorders. For example, WHO/South-East Asia recommends that each ministry of health designate a national focal point within the ministry and establish a national technical working group to develop a national strategic plan for the prevention and control of congenital disorders (World Health Organization, 2013). MgDb estimates contribute significantly to the first apparent task of such a national working group, which is to review available data on local causes, birth prevalence and outcomes of congenital disorders and to assess appropriate available interventions, their costs and benefits. The WHO Eastern Mediterranean (EMR) has a particularly high prevalence of congenital disorders, which is partly related to the locally high prevalence of parental blood relationships (Alwan et al. 1997). Many of the conditions commonly diagnosed in the region can be prevented through effective and inexpensive interventions such as food fortification and vaccination.
Pediatric surgery has been recognized as cured or without disability as a priority measure to prevent the death of newborns and infants due to birth defects and to achieve years of life. Genetic risk screening for reproduction, genetic counselling and prenatal diagnosis with the option of abortion performed in some countries of the Region have significantly reduced the prevalence of thalassemia at birth and could also affect other monogenic disorders in the future. It has now become clear that interventions that reduce mortality from congenital disorders lead to a cumulative increase in the number of survivors with lifelong disabilities and the need to access adequate health services. However, these interventions are not accessible to all families in the region. Some are expensive and many couples may not be aware of their existence. Therefore, comprehensive coverage is one of the biggest challenges for services aimed at reducing the burden of congenital disorders on families and the population as a whole. In response, WHO/Europe for the Eastern Mediterranean (EMRO) has (a) supported the development of MGDb to obtain independent baseline epidemiological estimates for RM Countries, and (b) launched a maternal and child health programme to strengthen preconception care through effective, cost-effective and evidence-based interventions; and supporting Member States` efforts to address the burden of congenital disorders. (World Health Organization 2015). Sometimes, even with the right number of chromosomes, a gene on the chromosome is abnormal. For certain conditions, such as cystic fibrosis, a child receives the same defective gene from both parents.
In other conditions, such as Marfan syndrome, only one parent passes on an abnormal gene. If an error occurs during this process, your child may have the wrong number of chromosomes or a damaged chromosome, resulting in congenital disease. Down syndrome is an example of a congenital disease caused by an extra chromosome. Although the literature contains a wealth of high-quality information on the prevalence and outcomes of congenital disorders, neither the data nor their collective impact has been effectively communicated to global or national health communities. In addition, experience in high-income countries shows that about 70 per cent of congenital disorders can be successfully prevented or treated (Alwan and Model 2003; Czeizel et al. 1993; World Health Organization, 1996), this requires a series of interventions – treatments and preventive measures – that have been introduced piecemeal throughout their development, but have never been recognized as a single set of coherent care. The MGDb aims to overcome these challenges by using all existing data to produce evidence-based epidemiological estimates for congenital disorders.