Birth Defects Web Quest TEKS and Objectives 2) Prenatal care and development. The student determines hereditary and environmental factors affecting prenatal development. The student is expected to: (A) discuss the role of genetics in prenatal development; (B) determine environmental factors affecting development of the fetus; (C) discuss the impact of technological advances on prenatal care and development. Upon completion of this webquest, students will be able to: 1. Define the term “Birth Defect”. 2. Define various birth defects and their causes and treatments. 3. Discuss the important role that Genetics plays in the formation of the human being during pregnancy. 4. Compare and contrast structural defects, metabolic defects, and defects caused by congenital infections. 5. Complete the handout which will used to review for our quiz on birth defects! ! “What do I do?” you may ask. As you go through these slides, you will be completing the worksheet provided. This worksheet is due on _____________. Be sure to visit the websites listed to find out more about each defect so you can get the bonus points! Happy hunting! Birth Defects are defined as abnormalities of structure, function, or body metabolism that are present at birth. These abnormalities lead to mental or physical disabilities or are fatal. There are more than 4,000 different known birth defects, ranging from minor to serious, and although many can be treated or cured, they're the leading cause of death in the first year of life. The American College of Obstetricians and Gynecologists (ACOG) says that 3 out of every 100 babies born in the United States have some kind of major birth defect. Birth defects can be caused by genetic, environmental, or unknown factors. Structural or metabolic defects are those that result when a specific body part is missing or formed incorrectly or when there is an inborn problem in body chemistry. The most common type of major structural defects are heart defects, which affect 1 in 100 babies in the United States. Why do some babies have congenital heart defects? Structural or Metabolic Defects, cont. Other common structural defects include spina bifida and hypospadias, a condition in which the opening of the male urethra (where urine exits from the penis) is in the wrong place. What is Myelomeningocele ? How does it affect a child? Defects Caused by Congenital Infections result when a mother gets an infection before or during the pregnancy. Infections that can cause birth defects include rubella (German measles), cytomegalovirus (CMV), syphilis, toxoplasmosis, Venezuelan equine encephalitis, parvovirus, and, rarely, chickenpox. None of these affect 100% of babies whose mothers are infected during pregnancy. If the mother is infected during early pregnancy, rubella carries the highest risk for birth defects (approximately 20%). Other Causes of Birth Defects Other causes of birth defects include alcohol abuse by the mother and Rh disease, which can occur when the mother's and baby's Rh factors (the "positive" or "negative" part of a person's blood type) are different. What type of blood would a child have if it’s parents were A+ and O- ? Click Here Causes of Birth Defects Most babies with birth defects are born to two parents with no obvious health problems or risk factors. A woman can do everything her doctor recommends to deliver a healthy child and still have a baby with a birth defect. Causes, continued How do genetics play a role in some birth defects? Environmental causes of birth defects have more to do with the mother's health and exposure to chemicals or diseases. When a mother has certain infections, such as rubella, during pregnancy, it can cause birth defects. Alcohol abuse by the mother causes fetal alcohol syndrome, and certain medications taken by the mother can cause birth defects. Causes, continued Multifactorial birth defects are caused by a combination of genetic and environmental factors and include neural tube defects and cleft lip and palate. Although you can take steps to prevent birth defects, a birth defect can happen even if you or your partner have no history of birth defects in your families or if you've had healthy children in the past. Common Birth Defects Cleft lip and/or palate occurs when the tissues of the mouth or lip don't form properly during fetal development. A cleft lip is a long opening between the upper lip and the nose. A cleft palate is an opening between the roof of the mouth and the nasal cavity. What are 3 types of clefts? Common Birth Defects, cont. Neural tube defects (NTDs) occur in the first month of pregnancy when the structure that develops into the brain and spinal cord is forming. Normally, this structure folds into a tube by the 29th day after conception. When the tube doesn't close completely, the baby has an NTD; many babies with these defects are stillborn or die soon after birth. Click here for a cool animation of the closure of the neural tube! Two most common forms of Neural Tube Defect (NTD) Spina bifida, which happens when the spinal column doesn't close completely around the spinal cord. It ranges from mild to severe and can be associated with loss of bladder and bowel function, paralysis, and, in some cases, death. Anencephaly, which occurs in 3 out of 10,000 births, involves the lack of development of parts of the brain. Importance of FOLIC ACID!!! NTDs are multifactorial defects, which according to the March of Dimes occur in about 2,500 babies a year in the United States, or 1 out of every 2,000 live births. Studies have shown that many of these defects may be prevented when the mother gets enough folic acid before and during pregnancy, especially during the first trimester. Women must make sure to receive enough folic acid before they become pregnant because the neural tube closes about 1 week after the first missed menstrual period — so mothers cannot wait to start folic acid when they first realize they're pregnant. For this reason, it is recommended that women take folic acid throughout their reproductive years. Heart Defects Atrial and ventricular septal defects, which are holes in the walls that separate the heart into left and right sides. Patent ductus arteriosus, which is present when the tubular blood channel that allows the blood to bypass the lungs while the baby is in the womb doesn't close (as expected) after birth. Aortic or pulmonary valve stenosis, which are narrowings of the valves that allow blood to flow from the heart to the lungs and other parts of the body. Coarctation of the aorta, which is a narrowing of the aorta, the major blood vessel carrying blood from the heart to the rest of the body. Transposition of the great arteries, which is the reversal of the connections of the aorta and the pulmonary artery with the heart. Hypoplastic left heart system, which is when the side of the heart that pumps blood to the body is underdeveloped or nonexistent. Tetralogy of Fallot, which is a combination of four heart defects that involves restriction in the flow of blood to the lungs. Cerebral palsy usually isn't detected until weeks to months after birth, depending on the severity of the condition. The term actually refers to a group of conditions affecting control of movement and caused by brain damage. People with cerebral palsy have difficulty controlling the motions their muscles make — which muscles and how severely they are impaired varies from person to person. How many children and adults in the US have CP? Cerebral Palsy Continued In most cases, the cause of cerebral palsy isn't known, but some causes include: rubella (German measles) infection during pregnancy Rh disease (a blood problem in the baby that results from a difference in the mother's and infant's blood types) prematurity brain damage during the last trimester of pregnancy or around the time of birth Cerebral palsy can also have a genetic cause or may be due to head injuries or meningitis that occur after birth. Therapy to improve motor skills, surgery, and braces and other types of equipment and assistive technology can help improve mobility and muscle control. Speech therapy and occupational therapy can help as well. Clubfoot Clubfoot is a term used to describe a group of structural defects of the foot and ankle in which the bones, joints, muscles, and blood vessels are formed incorrectly. These defects range from mild to severe and may affect one or both feet. Feet affected by this defect point down, turn in, and usually have a limited range of motion. What are 4 characteristics of clubfoot? Click Here… Congenital Hip Dislocation occurs when the round upper end of the thighbone doesn't sit inside the socket of the pelvis properly. This can happen in one or both hips. It happens in about 1 or 2 in 1,000 births, more often in girls, and tends to run in families, although the exact cause is unknown. Usually it is detected at birth and treated immediately by placing the baby in a soft sling for 6 to 9 months. If it's not recognized and treated early, surgery may be necessary. Which hip is more often involved? Which country has least occurrence, and why? Which race is more often affected? Cystic Fibrosis is a disease mainly affecting the respiratory and digestive systems. An inability to carry chloride (one of the chemicals in table and body salts) from the cells that line organs such as the lungs and pancreas to their outer surfaces causes the body to produce a thick, sticky mucus. Children with CF can have trouble breathing and digesting food; symptoms include chronic respiratory problems and pneumonia, bulky stools, and poor weight gain. How does genetics impact Cystic Fibrosis? How many people in the US carry this gene? Which race is most often affected? How is CF treated? Gastrointestinal defects are structural defects that can occur at any point along the gastrointestinal tract, which is made up of the esophagus, stomach, small and large intestines, rectum, and anus. The incomplete or abnormal development of any of these organs can cause obstructions or blockages that can lead to swallowing difficulties, vomiting, and problems with bowel movements. Down’s Syndrome is a group of abnormalities that occur in children who are born with an extra (third) copy of chromosome number 21 in their cells. Children with the syndrome have mental retardation and distinctive facial and other physical features; these problems are often accompanied by heart defects and other health problems. Who is Down’s Syndrome named for? At what age does the mother’s chance for having a DS child increase? Phenylketonuria (PKU) is a disease that affects the way the body processes protein; it can cause mental retardation. A baby born with PKU appears normal, but if the disease isn't treated, the child will suffer from developmental delays that are apparent by the first birthday. About 1 baby in 10,000 to 25,000 in the United States is born with PKU. When is testing for PKU done on a newborn? How is it done? What is done for a newborn which tests positive for PKU? Is genetics involved in having a baby with PKU? How? Fragile X syndrome is characterized by mental impairment, ranging from learning disabilities to mental retardation, autistic behaviors, and attention problems and hyperactivity. Physical characteristics of children with Fragile X include a long face, large ears, flat feet, and extremely flexible joints, especially fingers. How is Fragile X passed? Are boys or girls more often affected? List some signs or symptoms of Fragile X. Muscular dystrophy is a general term that's used to describe more than 40 different types of muscle diseases, all of which involve progressive weakness and degeneration of the muscles that control movement. Heart muscles and some other involuntary muscles are also affected in some forms of muscular dystrophy, and a few forms involve other organs as well. The disease is genetic and cannot be cured. Treatment includes physical and respiratory therapy, the use of assistive technology, and medications. What are the symptoms of Muscular Dystrophy? What does the term “Jerry’s Kids” have to do with MD? Sickle Cell Disease is a disorder of the red blood cells in which an abnormal shape of the cells results in chronic anemia (low blood count), periodic episodes of pain, and other health problems. In the United States, sickle cell anemia affects mostly African Americans and some Latinos. The disease occurs in about 1 in every 500 African- American births and 1 in every 1,000 to 1,400 Latino-American births. What happens if only 1 sickle cell gene but the other gene is normal? Tay-Sachs Disease affects the central nervous system, causing blindness, dementia, paralysis, seizures, and deafness; it's usually fatal within the first few years of life. Babies with this disease appear normal when they are born; the symptoms develop during the first few months of life. It is genetic and occurs most often in Jews of central or eastern European descent; when two parents are carriers, a child has a 1 in 4 chance of having it. Although there isn't any treatment for this disease, there's a test to help parents determine if they are carriers of the gene. What are 2 forms of Tay-Sachs Disease? Fetal Alcohol Syndrome is characterized by slowed growth, mental retardation, abnormalities in facial features, and problems with the central nervous system. Every year between 2,000 and 12,000 babies in the United States are born with defects caused by alcohol. FAS cannot be cured or treated, but can be prevented by avoiding alcohol intake during pregnancy How can Fetal Alcohol Syndrome be prevented? Infections During Pregnancy can cause a variety of birth defects. Examples include: Congenital rubella (the infection posing the highest risk for fetal damage) syndrome is characterized by vision and/or hearing loss, heart defects, mental retardation, and cerebral palsy. Toxoplasmosis infection of the mother can result in eye infections that threaten vision, hearing loss, learning disabilities, enlarged liver or spleen, mental retardation, and cerebral palsy in the infant. How is Toxoplasmosis spread? Infections During Pregnancy Genital herpes virus infection of the mother can cause brain damage, cerebral palsy, vision or hearing impairment, and death of the baby if the virus is transmitted to the infant before or during the birth. What cure is available for Herpes? Fifth disease can cause a dangerous form of anemia, heart failure, and, in some cases, fetal death, Congenital varicella syndrome, which is caused by chickenpox, can lead to scars, defects of muscle and bone, malformed and paralyzed limbs, a smaller-than- normal head, blindness, seizures, and mental retardation. This is an uncommon occurrence in pregnant women who become infected with chickenpox. Diagnosing Birth Defects Routine prenatal screening can do two major things: it can help determine if the mother has an infection or other condition that is dangerous to the fetus, and it can help determine if the fetus has certain birth defects. Defects that may be detected during a prenatal screening. neural tube defects (spina bifida, anencephaly) Down syndrome other chromosome abnormalities inherited metabolic disorders congenital heart defects gastrointestinal and kidney malformations cleft lip or palate certain birth defects of the limbs congenital tumors You’re done! Be sure to turn in your worksheet to your teacher so you can get a grade! Good job on your quest for information on Birth Defects! Be ready to review your answers for a quiz!
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