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Malformations

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• Malformations

\n

\n
• development and strengthening of registration and surveillance systems;
\n
• experience and capacity building;
\n
• strengthening research and scientific work in the field of etiology, diagnosis and prevention;
\n
• strengthening international cooperation.
\n

\n

Definition

\n

\nCongenital malformations are also referred to as congenital malformations, congenital disorders, or congenital deformities. Congenital malformations can be defined as structural or functional abnormalities (eg, metabolic disorders) that appear in utero and may be identified before birth, during birth, or later in life.

\n

Causes and risk factors

\n

\nApproximately 50% of all malformations cannot be attributed to any specific cause, but some causes or risk factors are known.

\n

Socio-economic factors

\n

\nAlthough low income may be an indirect determinant, malformations are more likely to occur in families and countries with insufficient resources. It is estimated that approximately 94% of severe malformations occur in middle- and low-income countries, where women often do not have access to sufficient and good enough food and may be exposed to some agent or factor, such as infection or alcohol, that provokes or enhances deviations from the norm in prenatal development. Moreover, motherhood in adulthood increases the risk of chromosomal abnormalities, including Down's syndrome, while motherhood at a young age increases the risk of certain congenital malformations.

\n

Genetic factors

\n

\nIncest (consanguinity) increases the prevalence of rare genetic birth defects and almost doubles the risk of neonatal and infant mortality, mental retardation and severe birth defects in children born to first cousins . Some ethnic groups, such as Ashkenazi Jews and Finns, have a relatively high prevalence of rare genetic mutations that lead to an increased risk of malformations.\n

\n

Infections

\n

\nMaternal infections such as syphilis or measles are a common cause of birth defects in low- and middle-income countries.

\n

Maternal nutrition

\n

\nDeficiency in iodine, folate, obesity, or conditions such as diabetes mellitus are associated with some malformations. For example, folic acid deficiency increases the risk of having a baby with a neural tube defect. In addition, increased intake of vitamin A may affect the normal development of the embryo or fetus.

\n

Environmental factors

\n

\nMaternal exposure to certain pesticides and other chemicals, as well as certain drugs, alcohol, tobacco, psychoactive substances, or radiation during pregnancy may increase the risk of developing the fetus or a newborn baby with birth defects. Working or living near or close to landfills, smelters, or mines can also be a risk factor, especially if the mother is exposed to other environmental risk factors or malnutrition.

\n

Prevention

\n

\nPregnancy and conception preventive health care, as well as prenatal care, reduce the incidence of some birth defects. Primary prevention of malformations includes the following measures:

\n

\n
• Improving the nutrition of women during the reproductive period by ensuring adequate intake of vitamins and minerals, especially folic acid, as a result of daily oral supplementation or fortification of staple foods, such as wheat or corn flour.
\n
• Supervise that a pregnant woman does not consume or consume in a limited amount unhealthy foods, especially alcohol.
\n
• Prevention of diabetes during pre-pregnancy and pregnancy through counseling, weight management, proper nutrition and, if necessary, insulin administration.
\n
• Prevention of exposure to environmental hazardous substances (eg, heavy metals, pesticides, certain drugs) during pregnancy.
\n
• Ensuring that any exposure of a pregnant woman to drugs or medical exposures (such as x-rays) is justified and based on a careful analysis of the health risks and benefits.
\n
• Increase vaccination coverage for women and children, especially against rubella virus. This disease can be prevented by vaccinating children. Rubella vaccine may also be given at least one month before pregnancy to women who did not receive the vaccine or who did not have rubella in childhood.
\n
• Increase vaccination coverage for women and children, especially against rubella virus. This disease can be prevented by vaccinating children. Rubella vaccine may also be given to women who are not immune to the disease at least one month before pregnancy.
\n
• Scaling up and intensifying training for health professionals and other staff involved in strengthening malformation prevention.
\n

\n

Identification

\n

\nPre-conception (pre-conception) and near conception (peri-conception) health care includes basic reproductive health care as well as medical genetic screening and counseling. Screening can be carried out during the three periods listed below.

\n

\n
• Pre-pregnancy screening is designed to identify people who are at risk of developing certain health conditions or at risk of passing on any health conditions to their children. Screening includes family medical history and vector screening. Screening is especially important in countries where incestuous marriages are common.
\n
• Preconception screening: Maternal characteristics may increase risk, and screening results should be used to provide appropriate care based on risk. During this period, screening of young and mature mothers, as well as screening for the use of alcohol, tobacco and other psychoactive substances, can be carried out. Ultrasound can be used to detect Down's syndrome during the first trimester of pregnancy and severe fetal malformations during the second trimester. Additional tests and amniocentesis help detect neural tube defects and chromosomal abnormalities during the first and second trimesters of pregnancy.
\n
• Newborn screening includes a clinical examination, as well as screening for hematological, metabolic, and hormonal disorders. Screening for deafness and heart disease, and early detection of birth defects, can facilitate life-saving treatment and prevent progression of the defect, which could lead to some form of physical, mental, or visual or hearing disability. In some countries, all newborns are screened for thyroid and adrenal abnormalities before being discharged from the maternity ward.
\n

\n

Treatment and care

\n

\nIn countries with adequate health services, structural congenital malformations can be corrected with pediatric surgery and ensure that children with functional problems such as thalassemia (inherited by recessive blood disease), sickle cell disorders, and congenital hypothyroidism.

\n

WHO activities

\n

\nIn 2010, the World Health Assembly published a report on birth defects. The report outlines the main components of establishing national programs for the prevention and care of birth defects before and after birth. The report also recommends priority actions for the international community to help establish and strengthen such national programs.

\n

\nThe Global Strategy for Women's and Children's Health, announced in September 2010 by the United Nations in collaboration with government leaders and other organizations such as WHO and UNICEF, plays a critical role in implementing efficient and cost-effective action to promote newborn and child health.\n

\n

\nWHO is also working with the National Center for Birth and Developmental Disorders, part of the US Centers for Disease Control and Prevention (CDC), and other partners to develop a global policy to fortify foods with salt folic acid at the country level. In addition, WHO is working with partners to provide the necessary technical expertise to conduct surveillance of neural tube defects, monitor efforts to fortify foods with folic acid salts, and strengthen laboratory capacity to assess risks for birth defects prevented by folic acid salts.

\n

\nThe International Clearing House for Surveillance and Research on Birth Defects is a voluntary, non-profit, international organization in official relations with WHO. This organization collects surveillance data on birth defects and research programs around the world to study and prevent birth defects and mitigate their effects.

\n

\nThe WHO Departments of Reproductive Health and Research and Nutrition for Health and Development, in collaboration with the International Clearing House for Surveillance and Research on Birth Defects and the CDC National Center for Birth Defects and Development, organize annual seminars on surveillance and prevention of birth defects and preterm birth. The WHO Department of HIV/AIDS is collaborating with these partners to strengthen surveillance for malformations among women receiving antiretroviral drugs during pregnancy as an integral part of the monitoring and evaluation of national HIV programs.

\n

\nThe GAVI Alliance, partnered with WHO, is helping developing countries to increase the control and elimination of rubella and congenital rubella syndrome through immunization.

\n

\nWHO is developing normative tools, including guidelines and a global action plan to strengthen health care and rehabilitation services in support of the implementation of the Convention on the Rights of Persons with Disabilities. Similarly, WHO is helping countries integrate health care and rehabilitation services into general primary health care, supporting the development of community-based rehabilitation programs and strengthening specialized rehabilitation centers and their links with community-based rehabilitation centers.

\n

United Nations Convention on the Rights of Persons with Disabilities

\n

\nThe WHO Department of Public Health and Environment works across a range of activities and develops interventions to address the environmental and social determinants of child development. These include: child-only vulnerability to indoor and outdoor air pollution, water pollution, lack of basic hygiene, toxic compounds, heavy metals, waste components and radiation exposure; mixed impact of factors related to the social environment, professional activities and nutrition, as well as the living conditions of children (home, school).

\n

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Key Facts

• An estimated 303,000 children die each year from malformations in the first 4 weeks of life.
• Developmental disabilities can lead to long-term disability, with significant impacts on individuals, their families, health systems and society.
• The most severe malformations include heart defects, neural tube defects and Down's syndrome.
• Although malformations may be genetic, infectious or environmental in origin, the exact cause is often difficult to establish.
• Some birth defects can be prevented. The main elements of prevention are, inter alia, vaccination, adequate intake of folic acid or iodine through fortification of staple foods or provision of nutritional supplements, and proper prenatal care.

Malformations and preterm birth are major causes of childhood death, chronic disease and disability in many countries. In 2010, the World Health Assembly adopted a resolution calling on all Member States to promote primary prevention and health promotion for children with developmental disabilities through:

• development and strengthening of registration and surveillance systems;
• experience and capacity building;
• strengthening research and scientific work in the field of etiology, diagnosis and prevention;
• strengthening international cooperation.

Definition

Congenital malformations are also referred to as congenital malformations, congenital disorders or congenital deformities. Congenital malformations can be defined as structural or functional abnormalities (eg, metabolic disorders) that appear in utero and may be identified before birth, during birth, or later in life.

Causes and risk factors

Approximately 50% of all malformations cannot be attributed to any specific cause, but some causes or risk factors are known.

Socio-economic factors

While low income may be an indirect determinant, malformations are more likely to occur in under-resourced families and countries. It is estimated that approximately 94% of severe malformations occur in middle- and low-income countries, where women often do not have access to sufficient and good enough food and may be exposed to some agent or factor, such as infection or alcohol, that provokes or enhances deviations from the norm in prenatal development. Moreover, motherhood in adulthood increases the risk of chromosomal abnormalities, including Down's syndrome, while motherhood at a young age increases the risk of certain congenital malformations.

Genetic factors

Incest (consanguinity) increases the prevalence of rare genetic birth defects and almost doubles the risk of neonatal and infant mortality, mental retardation and severe birth defects in children born to first cousins. Some ethnic groups, such as Ashkenazi Jews and Finns, have a relatively high prevalence of rare genetic mutations that lead to an increased risk of malformations.

Infections

Maternal infections such as syphilis or measles are a common cause of birth defects in low- and middle-income countries.

Maternal nutrition

Deficiency of iodine, folic acid salts, obesity, or conditions such as diabetes mellitus are associated with some malformations. For example, folic acid deficiency increases the risk of having a baby with a neural tube defect. In addition, increased intake of vitamin A may affect the normal development of the embryo or fetus.

Environmental factors

Maternal exposure to certain pesticides and other chemicals, as well as certain drugs, alcohol, tobacco, psychoactive substances, or radiation during pregnancy may increase the risk of birth defects in the fetus or newborn. Working or living near or close to landfills, smelters, or mines can also be a risk factor, especially if the mother is exposed to other environmental risk factors or malnutrition.

Prevention

Preventive health care during pregnancy and conception, as well as antenatal care, reduce the incidence of some birth defects. Primary prevention of malformations includes the following measures:

• Improving the nutrition of women during the reproductive period by ensuring adequate intake of vitamins and minerals, especially folic acid, through daily oral supplementation or fortification of staple foods such as wheat or corn flour .
• Supervise that a pregnant woman does not consume or consume in a limited amount unhealthy foods, especially alcohol.
• Prevention of diabetes in pregnancy and during pregnancy through counseling, weight management, proper nutrition and, if necessary, insulin administration.
• Prevention during pregnancy of exposure to hazardous environmental substances (eg, heavy metals, pesticides, certain drugs).
• Ensuring that any exposure of a pregnant woman to drugs or radiation for medical purposes (eg x-rays) is justified and based on a careful analysis of the health risks and benefits.
• Increase vaccination coverage for women and children, especially against rubella virus. This disease can be prevented by vaccinating children. Rubella vaccine may also be given at least one month before pregnancy to women who did not receive the vaccine or who did not have rubella in childhood.
• Increase vaccination coverage for women and children, especially against rubella virus. This disease can be prevented by vaccinating children. Rubella vaccine may also be given to women who are not immune to the disease at least one month before pregnancy.
• Scaling up and intensifying training for health professionals and other staff involved in strengthening the prevention of malformations.

Identification

Medical care before conception (in the preconception period) and around the time of conception (in the periconceptional period) includes basic reproductive health care, as well as medical genetic screening and counseling. Screening can be carried out during the three periods listed below.

• Pre-pregnancy screening is designed to identify people who are at risk of developing certain health conditions or passing on any health conditions to their children. Screening includes family medical history and vector screening. Screening is especially important in countries where incestuous marriages are common.
• Preconception screening: Maternal characteristics may increase risk and screening results should be used to provide appropriate care based on risk. During this period, screening of young and mature mothers, as well as screening for the use of alcohol, tobacco and other psychoactive substances, can be carried out. Ultrasound can be used to detect Down's syndrome during the first trimester of pregnancy and severe fetal malformations during the second trimester. Additional tests and amniocentesis help detect neural tube defects and chromosomal abnormalities during the first and second trimesters of pregnancy.
• Newborn screening includes a clinical examination, as well as screening for hematological, metabolic and hormonal disorders. Screening for deafness and heart disease, and early detection of birth defects, can facilitate life-saving treatment and prevent progression of the defect, which could lead to some form of physical, mental, or visual or hearing disability. In some countries, all newborns are screened for thyroid and adrenal abnormalities before being discharged from the maternity ward.

Treatment and medical care

In countries with adequate health services, structural birth defects can be corrected with pediatric surgery and timely treatment can be provided for children with functional problems such as thalassemia (a recessive blood disorder), sickle cell disorders, and congenital hypothyroidism.

WHO activities

In 2010, the World Health Assembly published a report on birth defects. The report outlines the main components of establishing national programs for the prevention and care of birth defects before and after birth. The report also recommends priority actions for the international community to help establish and strengthen such national programs.

The Global Strategy for Women's and Children's Health, launched in September 2010 by the United Nations in collaboration with government leaders and other organizations such as WHO and UNICEF, plays a critical role in achieving effective and cost-effective action to improve newborn health and children.

WHO is also working with the National Center for Birth and Developmental Disorders, part of the US Centers for Disease Control and Prevention (CDC), and other partners to develop a global policy for folic acid fortification at the country level. In addition, WHO is working with partners to provide the necessary technical expertise to conduct surveillance of neural tube defects, monitor efforts to fortify foods with folic acid salts, and strengthen laboratory capacity to assess risks for birth defects prevented by folic acid salts.

The International Clearing House for Surveillance and Research on Birth Defects is a voluntary, non-profit international organization in official relations with WHO. This organization collects surveillance data on birth defects and research programs around the world to study and prevent birth defects and mitigate their effects.

The WHO Departments of Reproductive Health and Research and Nutrition for Health and Development, in collaboration with the International Clearing House for Surveillance and Research on Birth Defects and the CDC National Center for Birth Defects and Development, organize annual workshops on surveillance and prevention of birth defects and premature birth. The WHO Department of HIV/AIDS is collaborating with these partners to strengthen surveillance for malformations among women receiving antiretroviral drugs during pregnancy as an integral part of the monitoring and evaluation of national HIV programs.

The GAVI Alliance, with WHO among its partners, is helping developing countries to accelerate the control and elimination of rubella and congenital rubella syndrome through immunization.

WHO is developing normative tools, including guidelines and a global action plan to strengthen health care and rehabilitation services in support of the implementation of the Convention on the Rights of Persons with Disabilities. Similarly, WHO is helping countries integrate health care and rehabilitation services into general primary health care, supporting the development of community-based rehabilitation programs and strengthening specialized rehabilitation centers and their links with community-based rehabilitation centers.

UN Convention on the Rights of Persons with Disabilities

The WHO Department of Public Health and Environment works across a range of activities and develops interventions to address the environmental and social determinants of child development. These include: child-only vulnerability to indoor and outdoor air pollution, water pollution, lack of basic hygiene, toxic compounds, heavy metals, waste components and radiation exposure; mixed impact of factors related to the social environment, professional activities and nutrition, as well as the living conditions of children (home, school).

Congenital adrenal hyperplasia, CYP21A2 gene, h.m.

Method of determination polymerase chain reaction, fragment analysis

Test material Whole blood (with EDTA)

Home visit available

The test is used to diagnose congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is a group of genetic diseases associated with a malfunction of the adrenal hormone synthesis enzymes. Up to 95% of all cases of CAH are associated with a defect in the CYP21A2 gene encoding 21-hydroxylase. This enzyme is key in the cascade of reactions in the synthesis of cortisol and aldosterone. Stopping its work leads to the accumulation of precursors of adrenal hormones, and the deficiency of end products of synthesis causes compensatory stimulation of ACTH production by negative feedback. Both of these pathways lead to a more intense production of androgens - male sex hormones, the excess of which, as a rule, causes the clinical picture of some forms of CAH. The disease is characterized by an autosomal recessive mode of inheritance. The severity of the condition varies depending on the nature of the changes in the CYP21A2 gene and, as a result, the level of production of 21-hydroxylase.

There are classical and non-classical forms of the disease. The prevalence of the classic form is from 1:10,000 to 1:15,000 newborns. It is a more severe variant of the disease and is divided into salt-losing and simple faith. With the salt-losing form, the clinical picture of aldosterone deficiency comes to the fore - there is an intense loss of sodium ions in the urine, which leads to hyponatremia, hyperkalemia and a decrease in blood pressure up to the development of hypovolemic shock. In the case of a simple true form, aldosterone production remains at an acceptable level, and clinical manifestations are mainly associated with hyperproduction of male sex hormones. The classic form of CAH in girls can be diagnosed immediately after birth - in such babies, masculinization of the external genital organs is observed. In newborn boys, the disease can be detected during neonatal screening.

The non-classical variant of CAH is a more common condition and accounts for 0.1-0.2% of the entire population, and in some isolated groups (Ashkenazi Jews) it reaches 1-2%. This form is associated with a relative deficiency of 21-hydroxylase and usually does not appear until adolescence. In children with this diagnosis, earlier appearance of pubic hair, accelerated growth compared to peers, and advance of bone age are observed. Adolescent girls may experience hirsutism, oligomenorrhea, and acne. In the post-pubertal period, adult patients may complain of male pattern hair, alopecia, acne, various menstrual irregularities, anovulation, miscarriage, and infertility. In men, an excess of androgens can lead to a decrease in potency, impaired spermatogenesis and subsequent loss of reproductive function.

It should be taken into account that in the case of a non-classical form of the disease, the determination of the level of 17-hydroxyprogestrone (17-OPG) may not be enough to make a diagnosis of ULN, since the study often gives false negative results due to the partially preserved function of the 21-hydroxylase enzyme.

---

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