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About CDC's Work on Birth Defects

View the Complete Infographic: Birth Defects are Common, Costly, and Critical

Birth defects affect 1 in 33 babies and are a leading cause of infant mortality in the United States. More than 4,000 infants die each year because of birth defects.

In addition, babies who survive and live with birth defects are at increased risk for developing many lifelong physical, cognitive, and social challenges.

CDC works to identify causes of birth defects, find opportunities to prevent them, and improve the health of those living with birth defects. By applying a public health approach incorporating three essential elements—surveillance or disease tracking, research to identify causes, and prevention research and programs—we can rapidly translate scientific findings into appropriate public health interventions. Understanding the potential causes of birth defects can lead to recommendations, policies, and services to help prevent them. CDC works toward a day when every child is born with the best health possible.

Tracking

Accurately finding infants and young children with birth defects is the first step in preventing birth defects and reducing their effect. This is generally achieved through a birth defects tracking system. Tracking where and when birth defects occur and who they affect gives us important clues about birth defects prevention and allows us to evaluate our efforts. CDC tracks birth defects through several state tracking systems and regional programs, including the Metropolitan Atlanta Congenital Defects Program (MACDP).

Learn more about tracking

Research

Most birth defects are thought to be caused by a complex mix of factors. These factors include our genes, our behaviors, and things in the environment. For some birth defects, we know the cause. But for most, we don’t. And we don’t understand well how factors work together to cause birth defects. Research can help us answer many of these questions.

The National Birth Defects Prevention Study (NBDPS) is the largest population-based study in the United States looking at risk factors and potential causes of birth defects. CDC funds the study and collects data with researchers from other study sites, collectively called the Centers for Birth Defects Research and Prevention (CBDRP).

Results from the NBDPS teach us more about what might raise or lower the risk of having a baby with a birth defect. The NBDPS has made key contributions in understanding the risks of certain birth defects when specific medications are used just before and during pregnancy. Data from the study have also clearly demonstrated that maternal obesity is a strong risk factor for a number of major birth defects and have confirmed the association between maternal smoking and having a baby with a cleft lip or cleft palate.

Learn more about research

Prevention

Although we do not know the cause of most birth defects, the good news is that we know how to prevent some birth defects.

For example, we have learned that taking folic acid before and during the early weeks of pregnancy greatly reduces the risk of serious defects of the brain and spine called neural tube defects or NTDs. This research finding led to the advice that all women who can become pregnant should take 400 micrograms of folic acid daily. We have also learned that drinking alcohol during pregnancy can cause the baby to be born with fetal alcohol spectrum disorders (FASDs). Therefore, CDC works with partners to educate women about the risk of drinking alcohol during pregnancy.

Improving our ability to prevent birth defects is an important public health priority issue that requires continued commitment. CDC hopes to learn more about the potential role of environmental exposures, medications, maternal infections, maternal diabetes, obesity, and genetic risk factors in causing birth defects. Expansion of tracking and research efforts holds great promise in identifying new causes of birth defects and strengthening birth defects prevention strategies.

Learn more about preventing birth defects

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

\nDeficiencies 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, and 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
• Pre-pregnancy and pregnancy prevention of diabetes 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. 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 and 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 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

• It is estimated that 303,000 children die every year from malformations during 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:

• 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 heart defects: types and methods of diagnosis

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Congenital heart defects (CHD) are developmental anomalies that lead to a violation of the morphological structure of the heart, including the valvular apparatus and great vessels.

CHD occur during fetal development (usually on the 2nd-8th week) as a result of a violation of the processes of embryogenesis. These anomalies can occur both in isolation and in combination with each other.

The overall prevalence of this group of diseases is up to 5-8 cases per 1000 births. Congenital malformations can be associated with chromosomal abnormalities, however, it is often non-chromosomal congenital heart defects that are diagnosed.

The overall incidence of non-chromosomal CHD is up to 7 cases per 1000 births, of which up to 3.5% are perinatal losses, 20% are diagnosed prenatally, 5.6% of pregnancies are terminated due to a detected fetal anomaly. Complex non-chromosomal heart defects are less common, about 2 cases per 1000 births. The outcome in 8% of cases is perinatal death, 40% are diagnosed in utero, 14% cause abortion.

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Causes of CHD

Structural and quantitative chromosomal abnormalities and mutations, i.e. primary genetic factors.

It is also necessary to pay attention to potentially teratogenic environmental factors: various intrauterine infections (rubella viruses, cytomegalovirus, coxsackie, infectious diseases in the mother in the first trimester), drugs (vitamin A, antiepileptic drugs, sulfasalazine, trimethoprim), constant contact with toxic substances ( paints, varnishes). In addition, it must be remembered that maternal factors have a negative impact on intrauterine development: reproductive problems preceding this pregnancy, the presence of diabetes mellitus, phenylketonuria, alcoholism, smoking, age, but also factors from the father's side - age, drug use ( cocaine, marijuana).

The leading role belongs to the multifactorial theory of the development of congenital heart defects (up to 90%).

Types of congenital heart defects

• Atrial septal defect (ASD) or open foramen ovale is diagnosed when one or more holes are found in the atrial septum. One of the most common congenital heart defects. Depending on the location of the defect, its size, the strength of the blood flow, more or less pronounced clinical signs are determined. Often ASD is combined with other heart anomalies and is determined in Down's syndrome.

• Ventricular septal defect (VSD) - is diagnosed with underdevelopment of the interventricular septum at various levels with the formation of a pathological communication between the left and right ventricles. It can occur both in isolation and together with other developmental anomalies. With a small defect, there is often no pronounced lag in physical development. VSD is dangerous because it can lead to the development of pulmonary hypertension, and therefore, it must be promptly corrected by surgery.

• Aortic coartation is a segmental narrowing of the aortic lumen with disruption of normal blood flow from the left ventricle to the systemic circulation. Up to 8% of all CHD cases are detected, more often in boys, often combined with other anomalies.

• An open ductus arteriosus is diagnosed when the Batall duct is not blocked, which is determined in newborns and subsequently overgrows. As a result, there is a partial discharge of arterial blood from the aorta into the pulmonary artery. With this CHD, there are often no severe clinical manifestations, however, the pathology requires surgical correction, since it is associated with a high risk of sudden cardiac death.

• Pulmonary artery atresia - diagnosed underdevelopment (complete or partial) of the cusps of the pulmonary valve with the development of backflow of blood from the pulmonary artery into the cavity of the right ventricle. Subsequently, it leads to insufficient blood supply to the lungs.

• Pulmonary valve stenosis is an anomaly in which narrowing of the orifice of the pulmonary valve is diagnosed. As a result of the pathology, most often, the valve leaflets, the normal blood flow from the right ventricle to the pulmonary trunk is disturbed.

• Tetralogy of Fallot is a complex concomitant CHD. Combines ventricular septal defect, pulmonary artery stenosis, right ventricular hypertrophy, aortic dextraposition. With this pathology, a mixture of arterial and venous blood occurs.

• Transposition of the great vessels is also a complex CHD. With this pathology, the aorta departs from the right ventricle and carries venous blood, and the pulmonary trunk departs from the left ventricle and carries arterial blood, respectively. Parok proceeds hard, is associated with high mortality of newborns.

• Dextrocardia is an anomaly of intrauterine development, characterized by right-sided placement of the heart. Often, there is a "mirror" arrangement of other unpaired internal organs.

• Ebstein's anomaly is a rare congenital heart disease, diagnosed when the location of the tricuspid valve leaflets changes. Normal - from the atrioventricular fibrous ring, with anomalies - from the walls of the right ventricle. The right ventricle is smaller and the right atrium is elongated, with abnormal valves.

CHD diagnostic methods

Diagnosis of congenital heart disease is based on the collection of anamnesis data (the presence of malformations, including congenital heart defects, genetic diseases in the next of kin; information about pregnancy and the presence of etiological factors in parents).

When collecting complaints, attention is paid to the child's lag in development, poor weight gain, poor appetite, sluggish sucking from the breast or bottle, refusal of the breast, cyanosis, and frequent respiratory infections.

Physical examination

During a physical examination, pay attention to the color of the skin, determine the pulse and blood pressure (on the right arm and any leg), perform auscultation of the heart, lungs, pay attention to the presence of peripheral edema, conduct pulse oximetry, and determine diuresis.

Instrumentation

However, the leading role in the diagnosis and confirmation, differential diagnosis of CHD is played by instrumental examination methods: X-ray examination of the chest organs, electrocardiography, echocardiography, MRI, CT, catheterization of the heart cavities.

To accurately diagnose the disease, make an appointment with the specialists of the Family Doctor network.

CHD treatments

In most cases, the treatment of congenital heart defects is surgical, and depending on the anatomy of the defect, the timing and type of intervention are determined.

In order to stabilize the condition before the planned surgical treatment, methods of therapeutic drug treatment of critical conditions and complications of CHD are resorted to.

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