What is congenital problems
What is a congenital disorder?
What is a congenital disorder? | Pregnancy Birth and Baby beginning of content5-minute read
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What is a congenital disorder?
A congenital disorder is a condition that is present from birth. Congenital disorders can be inherited or caused by environmental factors. Their impact on a child’s health and development isn’t always severe, and sometimes it can be quite mild. However, a child with a congenital disorder may experience a disability or health problems throughout life.
It’s natural to be concerned about congenital disorders if you’re pregnant or planning a pregnancy, especially if your family has a history of a particular disorder. It’s possible to test for some, but not all disorders during pregnancy, and there are also things you can do to reduce the chances of your baby being born with a congenital disorder.
What are the most common congenital disorders?
Some common congenital disorders are:
- cleft lip and cleft palate — usually diagnosed during routine scans in pregnancy
- congenital heart disease — including a hole in the heart, a valve problem or a problem with the blood vessels. These are usually diagnosed during routine scans in pregnancy or during newborn screening.
- cerebral palsy — usually diagnosed in the first few years of life
- Fragile X syndrome — may be diagnosed through genetic testing during pregnancy or in the first few years of life
- Down syndrome (Trisomy 21) — usually diagnosed through genetic during pregnancy
- spina bifida — usually diagnosed during routine scans in pregnancy
- cystic fibrosis — usually diagnosed during newborn screening
What tests for congenital disorders are available in pregnancy?
Testing for some congenital disorders, such as Down syndrome, can be performed using a blood test from 10 weeks of pregnancy onwards.
Although many parents choose to have tests during pregnancy, it is not compulsory. Some parents choose not to have tests.
Screening tests are designed to identify babies who may be at increased risk of a congenital disorder. If a screening test does not rule out your baby having a congenital disorder, the next step is to have a diagnostic test.
Diagnostic tests, such as ultrasound scans, blood tests and sometimes urine tests, aim to identify babies who have a congenital disorder and to find out what that disorder is.
However, it is not possible to test for all congenital disorders during pregnancy, and testing is not perfect.
Chorionic villus sampling (CVS)
Chorionic villus sampling, or CVS, is usually performed between 10 and 13 weeks of pregnancy if screening tests show your baby may have a congenital disorder. CVS can be used to diagnose babies with Down syndrome or other genetic conditions. You would be given a local anaesthetic and a doctor would use a needle to collect a small sample of cells from your placenta, which is then sent for testing.
Amniocentesis
This test is done after 15 weeks of pregnancy and may be done instead of, or as well as CVS. It can provide a definite answer as to whether your baby has Down syndrome or another congenital disorder.
Amniocentesis involves taking a small amount of fluid from around your baby, using a needle and after a local anaesthetic, which is then sent for testing.
There is a very small risk of miscarriage with both CVS and amniocentesis.
Can congenital disorders be prevented?
If you have a personal or family history of certain congenital disorders, you can have genetic tests before you become pregnant. You may wish to meet with a genetic counsellor to discuss your family history, the likelihood your baby will have any congenital disorders, and possibly to arrange to have genetic testing.
If you are having in vitro fertilisation (IVF) treatment, your embryo can be tested at 2 to 4 days old, before it is implanted into your uterus.
Other things you can do to try to prevent congenital disorders include:
- eating a healthy diet with enough vitamins and minerals, in particular folic acid, during the reproductive years
- taking folic acid supplements before you become pregnant and for the first trimester of pregnancy
- avoiding alcohol, smoking and other drugs because these can harm the fetus
- controlling diabetes and gestational diabetes
- avoiding exposure to chemicals in your environment, such as pesticides or lead
- being vaccinated, especially against rubella
Newborn testing and assessment
A paediatrician and other health professionals examine your baby in the first few days of life to check for hearing problems, heart conditions, and blood, metabolism and hormone disorders.
This is called newborn screening. Early detection of such problems can often prevent them from becoming more serious physical, intellectual, visual or hearing disabilities.
Sources:
Raising Children Network (Tests in pregnancy), Raising Children Network (Newborn screening), Raising Children Network (Antenatal tests: chromosomal abnormalities and other conditions), Raising Children Network (Congenital heart disease), World Health Organization (Congenital anomalies), The Royal Children's Hospital Melbourne (Cleft lip and palate), Cerebral Palsy Alliance (Signs and symptoms of Cerebral Palsy), Fragile X Association of Australia (Testing and screening for Fragile X), NSW Health Centre for Genetics Education (Screening tests during pregnancy), Sydney Children's Hospitals Network (Spina bifida)Learn more here about the development and quality assurance of healthdirect content.
Last reviewed: June 2021
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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 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.
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.
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 birth defect in a newborn, a neonatologist should highlight the type of this pathology, its causes, belonging to a particular syndrome, and how often this defect is accompanied by other congenital diseases.
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.
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 ), the absence of an anus opening ( atresia ), a decrease 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 the 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.
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.
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's 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.
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.
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.
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.
