Genetic birth defects
Pediatric Birth Defects - Conditions and Treatments
Many birth defects can be diagnosed before birth with tests. Chromosome problems such as Down syndrome can be diagnosed before birth by looking at cells in the amniotic fluid or from the placenta. Or they can be found by looking at the baby’s DNA in the mother’s blood (noninvasive prenatal screening). These tests are very accurate.
Fetal ultrasound during pregnancy can also show the possibility of certain birth defects. But ultrasound is not 100% accurate. Some babies with birth defects may look the same on ultrasound as those without problems.
Tests that can be done while a baby is in the uterus include the following.
Alpha-fetoprotein (AFP)
This blood test measures the levels of a protein called AFP (alpha-fetoprotein). This protein is released by the baby’s liver and is found in the mother's blood. AFP is sometimes called maternal serum AFP (MSAFP). AFP screening may be one part of a 2-, 3-, or 4-part screening. It's often called a multiple marker screen. The other parts are:
- Human chorionic gonadotropin (hCG). This is a hormone released by some cells in the placenta. High hCG levels may mean that the baby has Down syndrome. This condition is a chromosome problem. It causes learning problems and some physical changes.
- Estriol. This is a hormone made by the placenta, and by the baby’s liver and adrenal glands. Low levels may mean the baby has Down syndrome.
- Inhibin. This is a hormone made by the placenta. Abnormal levels may mean an increased risk for Down syndrome.
Nuchal translucency screening
This is an ultrasound test often done late in the first trimester. Thickening of the area at the back of the baby’s neck may mean an increased risk for Down syndrome or other chromosome problems.
Amniocentesis
This test takes a small sample of the amniotic fluid that surrounds the baby. The sample is used to diagnose chromosome problems and open neural tube defects such as spina bifida.
Testing can be done for other genetic defects and disorders. This depends on family history and lab testing available at the time of the test. The American College of Obstetricians and Gynecologists advises amniocentesis around 15 to 20 weeks of pregnancy for women who are at higher risk for chromosome problems. These include women who are older than 35 at delivery. It also includes women who have had an abnormal blood test that means they are at higher risk for a chromosome problem or neural tube defect such as spina bifida. In some cases, amniocentesis may be done as early as 14 weeks.
Chorionic villus sampling (CVS)
This test takes a sample of some tissue from the placenta. This tissue has the same genetic material as the baby. It can be tested for chromosome problems and some other genetic problems. This depends on family history and lab testing available at the time of the test. Unlike amniocentesis, CVS does not give information on neural tube defects such as spina bifida.
Women who have the CVS test also need a follow-up blood test between 16 and 18 weeks of pregnancy. This blood test is to screen for neural tube defects.
Ultrasound
This is a test that uses sound waves to create an image of the internal organs. Some physical birth defects can be found with ultrasound.
Noninvasive prenatal screening
This is a test that looks at the mother's blood. The lab looks for genetic material called DNA that comes from the placenta. This DNA is the same as the baby’s DNA. The lab looks for chromosome problems such as trisomy 13, trisomy 18, and trisomy 21.
Sometimes birth defects are not diagnosed until after birth. A baby may be diagnosed with a physical exam by a healthcare provider. The healthcare provider may also take a blood sample. This is looked at in a lab to find chromosome problems. This is important so the parents know the risk for that birth defect in future pregnancies.
Pediatric Lysosomal Storage Disorders | Children's National Hospital
What is a Lysosomal Storage Disease?
Lysosomes are sacs inside cells, containing enzymes that metabolize (break down) excess sugars and lipids (fats) into substances that cells can use.
When lysosomes don’t work properly, these sugars and fats build up in the cell instead of being used or excreted.
Lysosomal storage diseases are rare, but can lead to death if untreated. The excess substances built up in your child’s cells can cause a wide range of problems throughout the body, affecting organs including the:
- Brain
- Spleen
- Liver
- Bones
- Muscles
What Causes Lysosomal Storage Diseases?
A defective gene that develops during fetal (before birth) growth causes lysosomal storage diseases. Children can inherit the gene from one or both parents. The defective gene regulates a particular enzyme in the lysosome, which either is missing or isn’t enough to process the excess substances. When these substances build up to harmful amounts, cells stop working properly and may die.
Types of Lysosomal Storage Diseases?There are more than 50 types of lysosomal storage diseases.
The types that occur most often in babies and children include:
- Gaucher disease
- Niemann-Pick disease
- Fabry disease
- Tay-Sachs disease
- Mucopolysaccharidoses (MPS) diseases
- Pompe disease
Symptoms of Lysosomal Storage Diseases
Symptoms vary depending on the type of lysosomal storage disease your child may have. One or more of these symptoms may occur:
- Delay in intellectual and physical development
- Seizures
- Facial and other bone deformities
- Joint stiffness and pain
- Difficulty breathing
- Problems with vision and hearing
- Anemia, nosebleeds, and easy bleeding or bruising
- Swollen abdomen due to enlarged spleen or liver
- Severe intellectual problems including mental retardation
- Behavioral problems including aggressive behavior and hyperactivity
How Are Lysosomal Storage Diseases Diagnosed?
Physicians can detect lysosomal storage diseases either during pregnancy or in newborns and young children.
In addition to a physical exam, some of our diagnostic tools include:
- Testing for enzyme deficiencies in the blood, urine, and tissue
- Prenatal genetic testing, including amniocentesis and chorionic villus sampling, in families with a history of a lysosomal storage disorder
- Genetic screening to determine a person’s risk for passing a defective gene to future children
Treatments for Lysosomal Storage Diseases
Physicians can help relieve symptoms of some types of lysosomal storage diseases with treatment. At Children’s National, some common treatments include:
- Intravenous (IV) enzyme replacement
- Bone marrow transplantation to slow disease progression
- Umbilical cord blood stem cell transplantation to restore missing enzymes
Learn more about our Blood and Marrow Transplant Program at Children’s National.
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Congenital genetic anomalies
Home / Congenital genetic anomalies
Genetic are diseases that occur due to defects in genes, chromosomal abnormalities.
Every healthy person has 6-8 damaged genes, but they do not disrupt cell functions and do not lead to disease, because they are recessive (non-manifested). If a person inherits two similar abnormal genes from his mother and father, he becomes ill. The probability of such a coincidence is extremely small, but it increases dramatically if the parents are relatives (that is, they have a similar genotype). For this reason, the frequency of genetic abnormalities is high in closed populations. nine0008
Each gene in the human body is responsible for the production of a specific protein. Due to the manifestation of a damaged gene, the synthesis of an abnormal protein begins, which leads to cell dysfunction and developmental defects.
A doctor can establish the risk of a possible genetic anomaly by asking you about the diseases of relatives “up to the third knee”, both on your part and on the part of your husband.
Currently, the problem of congenital malformations is relevant in many branches of medicine.
According to long-term observation, more than 5.5% of children with congenital malformations are born in the world, mortality among newborns from congenital malformations is about 30% (up to 270 thousand children die annually under the age of 28 days of life). In the structure of perinatal mortality, congenital malformations in full-term children occupy the first place. About 10% of conceptions in the human population are accompanied by congenital anomalies in the development of the fetus. Approximately 0.5% of cases are chromosomal diseases, 0.7% are molecular pathologies, 1.8% are hereditary polygenic diseases, and about 7% are hereditary predispositions. nine0003
The viability of children with combined congenital malformations is increasingly considered as the main criterion in assessing the state of health. Despite the progress made in improving the quality of modern surgical care and intensive care for young children, the results of treatment, unfortunately, are not always encouraging.
When analyzing a diagnostic study of a detected congenital defect in a newborn, a neonatologist must identify the type of this pathology, its causes, belonging to a particular syndrome, and how often this defect is accompanied by other congenital diseases. nine0003
Congenital anomalies in the development of a child can be hereditary (due to gene mutations and chromosomal pathologies), teratogenic (acquired during pregnancy) and multifactorial (a combination of the first two factors). Of the various hereditary defects, a fairly common chromosomal disease should be distinguished - Down syndrome , in which the characteristic appearance of the child indicates his physical and mental retardation. Endocrine and hormonal pathologies of a pregnant woman, injuries during childbearing, oligohydramnios, viral diseases (rubella, influenza), intoxication of the body with chemicals, the intake of antidepressants, antibiotics, anticonvulsants by the expectant mother lead to deviations in the intrauterine development of the fetus.
And sometimes the true causes of congenital anomalies are not possible for embryologists, geneticists and neonatologists to establish at all. nine0003
There are a great many pathological deviations in the development of children, since absolutely any organ of a child can undergo an abnormal anatomical structure or a degenerative-dystrophic condition. A common anomaly is congenital heart disease, accompanied by defects in the interventricular and interatrial septum, stenosis (narrowing) of the aortic valve, which lead to a change in intracardiac hemodynamics. Renal congenital pathologies are also common: fusion, absence of one kidney ( agenesis ), or the appearance of a third. There are known cases of abnormal elongation and thickening of the large intestine ( Hirschsprung's disease ), the occurrence of diaphragmatic hernia, the absence of testicles in the scrotum ( cryptorchidism ).
Of course, the external manifestations of childhood malformations look very unsightly.
A child can be born with deformed or abnormally short upper and lower limbs ( clubfoot, lameness ), congenital dislocation of the hip, cleft lip, cleft palate, protruding chest, pathological bends of the spine. Often, melanin pigment is completely absent in the skin ( albinism ), so the child is contraindicated in sun exposure. Sometimes there is an increased number ( polydactyly ) of fingers and toes or their fusion ( syndactyly ), absence of an anal opening ( atresia ), reduction in the size of the skull ( microcephaly ), drooping of the upper eyelid ( itosis ) .
It should be noted that the numerous list of congenital malformations includes such diseases as a violation of the blood clotting factor ( hemophilia ), color blindness ( color blindness ), spina bifida ( spina bifida ). Many of these pathologies are treatable, some of them lead to lifelong disability, but, unfortunately, there are defects in which the child is not viable.
These include complete absence of lungs or kidneys, skin ( acrania ), or cerebral hemispheres (anencephaly ).
Congenital malformations in children can develop immediately after fertilization, occur in the first weeks of pregnancy, or at later stages of bearing a child. In this regard, pregnancy planning and prenatal diagnosis (medical genetic counseling), which involves a comprehensive examination of the health status of both spouses, are of great importance. This is especially true of persons in whose families people with abnormal deviations were previously born. Of course, today medicine has reached unprecedented heights, but it is better not to tempt fate and take care of the health of the unborn child long before pregnancy. nine0003
Each gene in the human body is responsible for the production of a specific protein. Due to the manifestation of a damaged gene, the synthesis of an abnormal protein begins, which leads to cell dysfunction and developmental defects.
A doctor can determine the risk of a possible genetic anomaly by asking you about the diseases of relatives “up to the third generation”, both on your side and on the side of your husband.
Turner syndrome is a disorder affecting girls characterized by the partial or total absence of one or two X chromosomes. The disease occurs in one in 3,000 girls. Girls with this disease are usually very small and their ovaries do not function. nine0003
Trisomy X syndrome is a condition in which a girl is born with three X chromosomes. This disease occurs in an average of one in 1000 girls. The X-trisomy syndrome is characterized by a slight mental retardation and, in some cases, infertility.
Klinefelter syndrome is a disorder in which a boy has one extra chromosome. The disease occurs in one boy out of 700. Patients with Klinefelter's syndrome, as a rule, are tall, there are no noticeable external developmental anomalies (after puberty, facial hair growth is difficult and the mammary glands are slightly enlarged).
Intellect in patients is usually normal, but speech disorders are common. Men with Klinefelter syndrome are usually infertile. nine0003
Cystic fibrosis is a genetic disease in which the functions of many glands are impaired. Cystic fibrosis only affects Caucasians. Approximately one in 20 white people has one damaged gene that, if manifested, can cause cystic fibrosis. The disease occurs when a person receives two of these genes (from the father and from the mother). In Russia, cystic fibrosis, according to various sources, occurs in one newborn out of 3500-5400, in the USA - in one out of 2500. With this disease, the gene responsible for the production of a protein that regulates the movement of sodium and chlorine through cell membranes is damaged. There is dehydration and an increase in the viscosity of the secretion of the glands. As a result, a thick secret blocks their activity. In patients with cystic fibrosis, protein and fat are poorly absorbed, as a result, growth and weight gain are greatly slowed down.
Modern methods of treatment (taking enzymes, vitamins and a special diet) allow half of the patients with cystic fibrosis to live more than 28 years. nine0003
Hemophilia is a genetic disease characterized by increased bleeding due to a deficiency of one of the blood coagulation factors. The disease is inherited through the female line, while it affects the vast majority of boys (an average of one in 8500). Hemophilia occurs when the genes responsible for the activity of blood clotting factors are damaged. With hemophilia, frequent hemorrhages in the joints and muscles are observed, which can ultimately lead to their significant deformation (that is, to a person's disability). People with hemophilia should avoid situations that could lead to bleeding. Patients with hemophilia should not take drugs that reduce blood clotting (for example, aspirin, heparin, and some painkillers). To prevent or stop bleeding, the patient is given a plasma concentrate containing a large amount of the missing clotting factor.
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Tay Sachs disease is a genetic disease characterized by the accumulation of phytanic acid (a product of the breakdown of fats) in tissues. The disease occurs mainly among Ashkenazi Jews and Canadians of French origin (in one newborn in 3600). Children with Tay-Sachs disease are retarded from an early age, then they become paralyzed and blind. As a rule, patients live up to 3-4 years. There are no treatments for this disease.
It is believed that the probability of having a baby with a congenital or hereditary pathology, the so-called population or general statistical risk, is approximately 3-5% for each pregnant woman. In rare cases, the probability of the birth of a child with a genetic disease can be predicted and the pathology can be diagnosed already in the period of intrauterine development of the child. Certain congenital malformations and diseases are established using laboratory biochemical, cytogenetic and molecular genetic methods even in the fetus, since some diseases are detected during a complex of prenatal (prenatal) diagnostic methods. \n \n \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. nine0003 \n \n \nApproximately 50% of all malformations cannot be attributed to any specific cause, but some causes or risk factors are known. \n \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. \n \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 \n \nMaternal infections such as syphilis or measles are a common cause of birth defects in low- and middle-income countries. \n \n \nDeficiencies in iodine, folate, obesity, or conditions such as diabetes mellitus are associated with some malformations. \n \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. nine0003 \n \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 \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 \n \nIn countries with adequate health services, structural congenital malformations can be corrected with pediatric surgery and provide timely treatment for children with functional problems such as thalassemia (inherited by recessive blood disease), sickle cell disorders, and congenital hypothyroidism. \n \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. nine0003 \n \nThe International Clearing House for Surveillance and Research on Birth Defects is a voluntary, non-profit, international organization in official relations with WHO. \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. nine0003 \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 plan of action 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. nine0003 \n \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 ","datePublished":"2022-02-28T22:52:00.0000000+00:00","image":"https://cdn.who.int/media/images/default -source/imported/preterm-birth-mother-jpg.jpg?sfvrsn=c5c1adf1_0","publisher":{"@type":"Organization","name":"World Health Organization: WHO","logo": {"@type":"ImageObject","url":"https://www.who.int/Images/SchemaOrg/schemaOrgLogo.jpg","width":250,"height":60}},"dateModified ":"2022-02-28T22:52:00.0000000+00:00","mainEntityOfPage":"https://www.who.int/ru/news-room/fact-sheets/detail/congenital-anomalies", "@context":"http://schema.org","@type":"Article"}; nine0003 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: 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. nine0003 Approximately 50% of all malformations cannot be attributed to any specific cause, but some causes or risk factors are known. 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. 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. nine0003 Maternal infections such as syphilis or measles are a common cause of birth defects in low- and middle-income countries. 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. 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. nine0003 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: 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. 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. 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. nine0003 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. nine0003 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. nine0003 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).
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Definition
Causes and risk factors
Socio-economic factors
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. nine0003 Genetic factors
Infections
Maternal nutrition
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. nine0003 Environmental factors
Prevention
\n
nine0101 \n 
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. Identification
\n
nine0101 \n 
In some countries, all newborns are screened for thyroid and adrenal abnormalities before being discharged from the maternity ward. nine0101 \n Treatment and care
WHO activities
This organization collects surveillance data on birth defects and research programs around the world to study and prevent birth defects and mitigate their effects. 
United Nations Convention on the Rights of Persons with Disabilities
nine0003 Key Facts
Definition
Causes and risk factors
Socio-economic factors
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. nine0003 Genetic factors
Infections
Maternal nutrition
In addition, increased intake of vitamin A may affect the normal development of the embryo or fetus. nine0003 Environmental factors
Prophylaxis
nine0101 
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. Identification
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. nine0101 Treatment and medical care
WHO activities
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UN Convention on the Rights of Persons with Disabilities
