Birth Defects


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Birth Defects

  1. 1. Sarah Ailiff Judy Baxter Shauna Hatchett Tonya Johnson Amber Teverbaugh
  2. 2. <ul><li>There are many birth defects that can be caused by numerous things while pregnant. A birth defect is described as a physical or biochemical defect that is present at birth and may be inherited or environmentally induced (Merriam-Webster). Ahead we will discuss just a few defects that are commonly present in children. </li></ul>
  3. 3. <ul><li>Sickle cell disease is an inherited disorder in which red blood cells (RBCs) are abnormally shaped. This abnormality can result in painful episodes, serious infections, chronic anemia, and damage to body organs (KidsHealth). </li></ul>
  4. 4. <ul><li>A child with sickle cell disease has inherited two defective hemoglobin genes. The hemoglobin can take on an abnormal shape, distorting the shape of the red blood cell. The cells change from a normal round, doughnut shape to the elongated shape of a sickle, or the shape of the letter &quot;C.&quot; </li></ul><ul><li>The sickle shape means that they have a tendency to get stuck in narrow blood vessels and block the flow of blood. This can cause episodes of pain and can also lead to organ damage because the cells aren't getting enough oxygen. </li></ul><ul><li>Sickle cells have a shorter-than-normal life span, </li></ul><ul><li>which leads to anemia (low red blood cell count) (KidsHealth). </li></ul>
  5. 5. <ul><li>There are different forms of sickle cell disease: </li></ul><ul><li>Hemoglobin ss disease (sickle cell anemia)-someone who has inherited a sickle cell gene from each parent. Hemoglobin SC disease or hemoglobin S- thalassemia-a person who inherited a gene from each parent. </li></ul><ul><li>In the United States, hemoglobin SS disease (sickle cell anemia) affects mostly African Americans (TheChildren’sHospital). </li></ul>
  6. 6. <ul><li>Symptoms </li></ul><ul><li>Vary and range from mild to severe, and symptoms may be less severe or different in children who have inherited a sickle cell gene from one parent and a different abnormal hemoglobin gene from the other. </li></ul><ul><li>Most kids with sickle cell disease have some degree of anemia and might develop one or more of the following conditions and symptoms as part of the disorder: Acute chest syndrome, aplastic crisis, hand –foot syndrome, infection, painful criese, splenic sequestration crises & stroke. </li></ul><ul><li>Treatment </li></ul><ul><li>Aside from a bone marrow transplant, there is no known cure for sickle cell disease. </li></ul><ul><li>Medicines are available to help manage the pain, and immunizations and daily doses of penicillin (an antibiotic) can help prevent infection (UHHospitals). </li></ul>
  7. 7. <ul><li>Spina bifida is a developmental birth defect involving the neural tube: incomplete closure of the embryonic neural tube results in an incompletely formed spinal cord. In addition, the vertebrae overlying the open portion of the spinal cord do not fully form and remain unfused and open (disapedia). </li></ul><ul><li>Spina bifida is the most frequently occurring permanently disabling birth defect and the most common Neural Tube Defect. It affects approximately one out of every 1,000 newborns in the United States (charityadvantage). </li></ul><ul><li>Children with spina bifida often </li></ul><ul><li>do not walk unassisted and frequently </li></ul><ul><li>have learning disabilities. </li></ul>
  8. 9. <ul><li>Recent studies have shown that folic acid is one factor that may reduce the risk of having an NTD baby. Taking folic acid cannot guarantee having a healthy baby, but it can help. Taking folic acid before and during early pregnancy reduces the risk of spina bifida and other neural tube defects. </li></ul><ul><li>Folic acid, a common water-soluble B vitamin, is essential for the functioning of the human body. During periods of rapid growth, such as pregnancy and fetal development, the body's requirement for this vitamin increases. </li></ul>
  9. 10. <ul><li>Fetal Alcohol Syndrome (FAS) </li></ul><ul><li>is a pattern of mental and physical defects </li></ul><ul><li>which develops in some unborn babies when </li></ul><ul><li>the mother drinks too much alcohol during </li></ul><ul><li>pregnancy. A baby born with FAS may be </li></ul><ul><li>seriously handicapped and require a lifetime of </li></ul><ul><li>special care (Well). </li></ul>
  10. 11. <ul><li>Alcohol in a pregnant woman’s blood stream circulates to the fetus by crossing the placenta. Then it interferes with the ability of the fetus to receive sufficient oxygen and nourishment for normal cell development in the brain and other body organs (Well). </li></ul><ul><li>Problems associated with FAS tend to intensify as children move into adulthood. These can include mental health problems, troubles with the law, and the inability to live independently (KidsHealth). </li></ul>
  11. 12. <ul><li>Children with FASs might have the following characteristics or exhibit the following behaviors: Small size for gestational age or small stature in relation to peers, Facial abnormalities such as small eye openings, Poor coordination, Hyperactive behavior, Learning disabilities, Developmental disabilities (e.g., speech and language delays), Mental retardation or low IQ, Problems with daily living, Poor reasoning and judgment skills, Sleep and sucking disturbances in infancy. They are also at risk for psychiatric problems, criminal behavior, unemployment, and incomplete education. </li></ul>
  12. 13. <ul><li>FASs are completely preventable-if a woman does not drink alcohol while pregnant or could become pregnant. Mothers are not the only ones who can prevent FASs. The father’s role is also important in helping the mother abstain from drinking alcohol during pregnancy. </li></ul><ul><li>In February 2005, the U.S. Surgeon General </li></ul><ul><li> issued an Advisory on </li></ul><ul><li>Alcohol Use in </li></ul><ul><li>Pregnancy to raise public </li></ul><ul><li>awareness about this </li></ul><ul><li>important health concern </li></ul><ul><li>(CDC). </li></ul>
  13. 14. <ul><li>Cleft lip and cleft palate are facial and oral malformations that occur very early in pregnancy, while the baby is developing inside its mother. Clefting results when there is not enough tissue in the mouth or lip area, and the tissue that is available does not join together properly (MedicineNet). </li></ul>
  14. 15. <ul><li>Cleft lip and/or cleft palate are caused by multiple genes inherited from both parents, as well as environmental factors that scientists do not yet fully understand. When a combination of genes and environmental factors cause a condition, the inheritance is called &quot;multifactorial&quot; (many factors contribute to the cause). Because genes are involved, the chance for a cleft lip and/or cleft palate to happen again in a family is increased, depending on how many people in the family have a cleft lip and/or cleft palate (Stjohnsmercy). </li></ul><ul><li>If women take certain medications — such as some medicines to control seizures — during pregnancy, the chance of having a baby with cleft lip or palate may be higher (KidsHealth). </li></ul>
  15. 16. <ul><li>Breastfeeding difficulties </li></ul><ul><li>Breathing </li></ul><ul><li>Frequent ear infections - because air and fluid can't pass normally through the eustachian tubes, the tubes that connect the throat with the middle ear. Which causes fluid and germs collect in the eardrums and cause infections (KidsHealth). </li></ul>
  16. 17. <ul><li>Each child has their individual treatment plan depending on their health and severity of the cleft. </li></ul><ul><li>Treatment is usually done early and can have many long-term surgeries and follow-ups. </li></ul><ul><li>Surgery to repair a cleft lip is usually done between 10 and 12 weeks of age. A cleft palate is repaired </li></ul><ul><li>through a procedure </li></ul><ul><li>called palatoplasy, </li></ul><ul><li>which is done between </li></ul><ul><li>nine and 18 months </li></ul><ul><li>(entnet). </li></ul>
  17. 18. <ul><li>Cleft Lip & Palate: </li></ul><ul><li> </li></ul><ul><li> </li></ul><ul><li> </li></ul><ul><li>Fetal Alcohol Syndrome: </li></ul><ul><li>http://www.cdc.ov/ncbddd/fas/fasask.htm. </li></ul><ul><li> t=21763 . </li></ul><ul><li> </li></ul><ul><li>Introduction: </li></ul><ul><li>Merriam-Webster. </li></ul><ul><li>Sickle Cell: </li></ul><ul><li> </li></ul><ul><li> </li></ul><ul><li> </li></ul><ul><li>Spina Bifida: </li></ul><ul><li> </li></ul><ul><li> </li></ul><ul><li> </li></ul>