...parents. Imagine the pain a family encounters after carrying a child for nine months and once the water breaks, being informed that there is a congenital defect with the new born child. The term alone would horrify a mother without being aware of the definition or even cause of the problem the child has encountered. A congenital defect is a birth defect that can be defined as problems that occur while a fetus is developing in the womb. Congenital defects can affect the way the body looks or functions and range from mild to severe. Some defects such as cleft lip or palate can be easily and safely treated, however, defects such as Down syndrome, heart or brain defects, and things along those lines may need life-long treatment to manage. The most severe congenital defects prove fatal and lead to infant death. In 2005, 5,571 infants died as a result of congenital defects. Birth defects are generally grouped into one of three major categories, structural or metabolic, congenital infections, or “other.” Being that this is such a broad break down of categories, it is made evident that not only is it unclear whether a child is born with an abnormality until various tests are done to come to the conclusion that there may be something wrong with a child. Structural or metabolic abnormalities include heart defects and neural defects where some part of the body, internal or external, is missing or malformed. Recessive genetic diseases which are diseases that result from the inability of...
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...SIXTY-THIRD WORLD HEALTH ASSEMBLY Provisional agenda item 11.7 A63/10 1 April 2010 Birth defects Report by the Secretariat 1. The report aims to inform the discussion on birth defects, including definition, epidemiology, burden of disease and interventions for prevention and care, as well as indications of how these interventions might be integrated into existing health services. An earlier version of this report was considered by the Executive Board at its 126th session,1 following which the Board adopted resolution EB126.R6. DEFINITION 2. The International statistical classification of diseases and related health problems, tenth revision (ICD-10), includes birth defects in Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities. Birth defects like inborn errors of metabolism and blood disorders of prenatal origin appear in other chapters. Birth defects can be defined as structural or functional abnormalities, including metabolic disorders, which are present from birth. The term congenital disorder is considered to have the same definition; the two terms are used interchangeably.2 The eleventh revision of the classification provides an opportunity for a review of the current entry. 3. Irrespective of definition, birth defects can cause spontaneous abortions and stillbirths and are a significant but underrecognized cause of mortality and disability among infants and children under five years of age. They can be life-threatening, result in long-term...
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...2.1.1. Introduction to Birth Defect Birth defect is one of the significant indicators of health status of every individual. The incidence of birth defects remains an important public health concern. Inadequate knowledge about the defects among prospective mothers (or the family) could result in delayed medical managements. It is also under-recognized cause of infant’s and children’s death and disability. The World Health Organization (WHO) defined birth defect as structural or functional abnormalities that are usually seen at birth. It is reported that children who survive and live with birth defect are faced with the increased risk of developing life-long physical, cognitive and social challenges on which medical intervention and other supportive...
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...Anencephaly is a serious birth defect in which a baby is born without parts of the brain and skull. It is a type of neural tube defect; these are birth defects that happen during the first month of pregnancy, and it’s usually before a woman knows she is pregnant. Keywords: N/A Birth Defects: Anencephaly Birth defects are a structural or/and a functional of abnormalities that are present at birth that cause physical or mental disability. They’re the leading cause of death for infants and a fetus during the first year of life, and they can be fatal. Anencephaly is an example of a neural tube defect, a condition that results from an error in the first weeks of embryonic development. The term embryonic development refers to the changes that take...
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...Alcohol: A Matter of Balance There is a wide range of physical and mental birth defects that can occur from an exposure to alcohol before birth, therefore women should not drink during pregnancy. Some people may believe that moderate drinking during pregnancy is okay, but there are others who believe that even having one drink can be potentially harmful to an unborn child. About 1 out of every 12 pregnant women drinks alcohol during pregnancy. 1 out of every 30 pregnant women report binge drinking during pregnancy. Prenatal alcohol exposure interferes with embryonic and fetal development. There is a wide range of physical and mental birth defects that can occur from an exposure to alcohol before birth, therefore women should not drink during pregnancy. Fetal Alcohol Syndrome (FAS) is a clinical diagnosis of prenatal alcohol exposure. FAS was “first officially recognized by Jones and Smith (1973)” (Blackburn &Whitehurst 2010). It's estimated that each year in the United States, 1 in every 750 infants is born with a pattern of physical, developmental, and functional problems referred to as fetal alcohol syndrome. This syndrome has received considerable attention in recent years. Fetal Alcohol Syndrome consists of evidence of prenatal alcohol exposure including central nervous system abnormalities (structural, neurological, and behavioral), growth retardation, and dysmorphic facial features. “Although intellectual disability is not a feature of the diagnostic...
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...Birth Defects Synthesis Essay As excitement and joy flow through expecting parents, troubling thoughts will occur when preparing for an unborn child. With numerous thoughts arising for the family one specific thought, will this child be healthy, will present itself throughout the pregnancy and at birth. Birth defects change the lives of families and unborn children every day. On the website, Centers for Disease Control and Prevention, in the United States alone one out of thirty-three children display having a birth defect before and at delivery (“Facts about Birth Defects” par. 1). By knowing the impact birth defects have on society cause a worry for mothers-to-be and families wanting a child of their own. Some families will search for ways...
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...Birth defects, also known as congenital disorders, are conditions that exist before or at birth. 20% of these defects originate from heredity, but most of these disorders are caused by the poor life choices expecting mothers make. There are things moms may not consider that could put an infant in danger of congenital disorders. Some everyday activities contain underlying risks that can be detrimental over time. With that being said, most birth defects happen because of the carelessness of pregnant mothers by means of smoking, drinking, not eating correctly, and not taking care of themselves in various ways. Cigarettes There are many commercials on TV showing the negative effects cigarettes have on unborn babies. All cigarettes contain toxins,...
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...January the month I was born and is also birth defects awareness month. Although you cannot tell by looking at me, I have a birth defect. I was clueless that I had a birth defect until days before my 20th birthday. A severe kidney infection eventually led me to a cystoscope, also known as a bladder scope. When I woke up, surprise! You were born with a few extra parts, specifically an extra kidney (supernumerary it overlaps my other one) and an extra urethra (they are twisted tightly around one another). I had never heard of anyone having an extra kidney. Birth defects are more common than the average individual thinks. According to the CDC, "Every 4 ½ minutes, a baby is born with a major birth defect in the United States." Shockingly, it is reported that only 10% of birth defects are caused by...
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...Solidification and crystalline imperfections: When molten alloys are cast, solidification starts at the walls of the mold as it is being cooled. The solidification of the alloy takes place not at a specific temperature but over a range of temperatures. While the alloy in the this range, it has a pasty form that consist of solid, tree-like structures called dendrites (meaning tree-like) and metal. The formation of Stable Nuclei in Liquid Metals: The two main mechanism by which the nucleation of solid particles in liquid metal occurs are homogeneous nucleation and heterogeneous nucleation. Homogeneous Nucleation in a liquid melt occurs when the metal itself provides the atoms needed to form nuclei. When a pre liquid metal is cooled below its equilibrium freezing temperature to a sufficient degree, many homogeneous nuclei are created by slow-moving atoms bonding together. For a nucleus to be stable so that it can grow into a crystal, it must reach a critical size. A cluster of atoms bonded together that is less than a critical size is called an embryo and one that is larger than the critical size is called a nucleus. Embryos: Small particles of a new phase formed by a phase (i. e. solidification) that are not of critical size and that can resolve. Nucle: Small particles of a new phase formed by a phase change (e . i . solidification) that can grow until the phase change is complete. Homogeneous Nucleation: The formation of small regions of a...
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...organization support Bill HB 81. The American Heart Association has been dedicated to the treatment and prevention of cardiovascular diseases of all age groups. Furthermore, our mission and goal is to" build healthier lives, free of cardiovascular disease, this is the single purpose that drives all we do and the need for our work is beyond question"(American Heart Association, n.d). Therefore, it is evident that this organization firmly support early screening, treatment and prevention of cardiovascular diseases. Congenital heart disease is the most common birth defect among newborns, affecting eight out of every one thousand newborn babies(Ewer et. al, 2011). It is also the leading cause of death among newborns within the first year of life. Early detection of congenital heart disease is crucial to newborn health and prevention of major problems later in child's life. Additionally, if detected early, congenital heart defects can be treated with surgical interventions or medication, depending on the severity. Pulse oximetry, a simple non invasive test and will be implemented as a screening tool for congenital heart disease(Kemper et. al, 2011). Bill HB 81 - Newborn Screening for Critical Congenital Heart Disease was sponsored by Cary Pigman(Republican, District 55) and Karen Caster Dentel(Democrat, District 30)(Florida House of Representative, n.d.). This bill was filed on January 2,2013; passed on March 5, 2013 and will be effective on July 1, 2013. Bill HB 81 will require...
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...Congenital heart disease (CHD) is one of the most common birth defects found in children, with an incidence of approximately 9 in every 1000 live births worldwide (van der Linde et al., 2011). Children with complex congenital heart disease are living longer due to dramatic advances in medical procedures and surgical techniques, as well as the increase of pediatric heart transplant recipients, and the decrease in the death rates from CHD (Pillutla, Shetty, & Foster, 2008). Background Information Children with CHD have been noted to have increased rates of mental health comorbidities, which include depression and anxiety. Depression and mood disorders in this population have been positively correlated with lower physical and psychosocial quality...
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...Requiring Newborn Screening of Critical Congenital Heart Disease Date With the numerous technological advances that have occurred in today’s health care system, one would think newborn screening would be required in Maryland for the most common birth defect in the United States, critical congenital heart disease (CCHD), but only just this year has the state considered the requirement (Department of Legislative Services, Office of Information Systems [DLSOIS], 2011). Critical congenital heart disease, a disorder in which an infant’s heart or blood vessels near the heart develop abnormally before birth, affects approximately 8 out of every 1,000 infants each year in the US, amounting to around 36,000 infants (DLSOIS, 2011). CCHD is the leading cause of death among infants within the first year of life, amounting to nearly 40% of deaths, often due to the fact that a large number of infants with this disease go undetected (Martin, Bradshaw, & Wright, n.d.). Although some babies are diagnosed with congenital heart disease shortly before or after birth, many diagnoses are not made until days, weeks, or months later; sometimes not at all. Many benefits are associated with implementing CCHD screening, many treatment options are available for those diagnosed with CCHD, and a bill is being proposed to the State of Maryland’s General Assembly about including this screening in the Department of Health and Mental Hygiene’s Newborn Screening Program (DLSOIS, 2011). The benefits...
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...Neural tube defects are defects of the brain, spine or spinal cord itself. A neural tube defect happens in the first month of pregnancy usually. The women at that point will most likely not even know that she is pregnant. There are 4 main kinds of neural tube defects. Occulta is the most common type of neural defect. With this defect there is a layer of skin covering the opening of the spine. Unlike the other forms, it causes less issues. There is rarely symptoms. A neural tube defect can be diagnosed prenatally with a sonogram or ultrasound. I have done some research online and have looked at some of the images. All seem to have a very distinct abnormality or growth. It is something that with this kind of technology and a good eye and knows what they are looking for, could prevent an embryo from becoming a fetus and then a child that may or may not have a long term disability that could hinder them from being able to take care of themselves or even be mobile at all. I know the article said that they can’t see these abnormities until the 17th and 20th week but when I was pregnant there was a specific test for the, which they do mention, that measured the protein AFP. I do believe they can sometimes find out earlier than mentioned here. Anencephaly is the neural defect that I chose. It is the most interesting a heartbreaking that I have found. This defect is where the baby is born without major parts of its brain. All babies will die shortly after birth. The reason being is the...
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...The heart and its functions Atrial Septal Defect (ASD) is also known called “a hole in the heart.” The defect presents a hole in the wall (septum) that separates the upper chambers of the heart. The hole can be a variety of sizes, and it is possible for the hole to close naturally or through surgical intervention. Many times babies born with this defect do not exhibit signs and symptoms. However larger untreated holes in babies may cause lung and respiratory infections, fatigue during feedings, shortness of breath during activity, a heart murmur, swelling of the extremities and stroke. Larger holes cause the amount of blood being pumped to the lungs to increase, and may lead to unusual heart rhythm and stroke. In contrast to Atrial Septal Defect (ASD) is Ventricular Septal Defect (VSD). The hole in VSD is located between the left and right ventricles of the heart as opposed to between the two atriums. This defect will cause oxygenated and deoxygenated blood of the two chambers to mix in the right ventricle causing severe symptoms. Symptoms include fatigue, rapid respiration, dyspnea, poor weight gain, and poor nutritional intake. In contrast to Atrial Septal Defect (ASD) the symptoms exhibited in Ventricular Septal Defect (VSD) will start almost immediately after birth rather than later in life. The mechanical heart requires several essential characteristics. The first is energy transmission, because without a reliable and consistent power supply the device would not be able...
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...the World of Spina Bifida One in one thousand births are affected by neural tube defects, second most common in humans. Two particular defects include anencephaly and spina bifida, caused by the neural tube’s failure to close early on during the development of the brain and spinal cord. If the neural tube that forms the brain does not close, it is known as anencephaly and this results in the brain forming completely abnormally and the cranium being absent. The results are death at birth. In mice, this defect is known as exencephaly. Which is where Dr. Heather Mcdermid and her research staff base their studies and experiments. Mutation of the gene Cecr2 causes exencephaly in mice in a strain dependent manner. For example a BALB/c strain on a mouse, when mutated, shows exencephaly in 75% of mouse embryos. Studing of the gene Cecr2 and its major modifier, a gene located on chromosome 19, will hopefully add to their field of research and understanding of the mechanisms of normal neurulation and neural tube defects. Dr. Mcdermid went to school at the University of Western Ontario, where she would receive her bachelors of science in zoology; then, due to marriage, Dr. Mcdermid moved to Kingston and through observing a prof of the field, became avidaly interestd in human genetics. Going on to receive her P.H.d. Upon returning to Edmonton Currently engaged in two projects, Dr. Mcdermid and her team are looking at Neural Tube Defects in mice, a lot of different aspects being associated...
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