1. Birth Defects

2. The King and the Scratched Diamond…
Once there was a king who had a beautiful, large pure diamond. There was no other diamond like it in the world. One day, it became deeply scratched. The king told his best diamond cutters, “I’ll promise you a great reward if you can remove the imperfection from my jewel.” But they could not. The king was very upset. Many months later, a man came to the king. He promised to make the diamond even more beautiful than it ever had been. Impressed by the man’s confidence, the king consented. He watched as the man engraved an exquisite rosebud around the blemish and used the scratch to make its stem. --Parable of the Preacher of Dubno from Jewish Folklore

3. Birth Defects: Define and Understand
An abnormality of structure, function, or body metabolism which often results in physical or mental handicap, a shorter life span, or is fatal.
20% Heredity
20% Environment
The first 6 weeks of prenatal development is the most sensitive period for birth defects.

4. Birth Defects: Methods of Inheritance or Classification
Chromosomal error: The fertilized egg cell, which contains chromosomes in an abnormal number, shape/structure, or arrangement.
Blood disorder: reduced or mission blood component, or an inability to do its full share of the work.
Congenital malformation: a condition that is present a t birth where part of the body might be missing, misshapen, or duplicated.

5. Birth Defects: Methods of Inheritance or Classification
Perinatal damage: factors, mainly environmental, that cause damage to the fetus before or during birth like infections, chemical substances, complications and natural disorders of abnormalities.
Metabolic defects: disease of the body chemistry that cause the inability of cells to produce necessary substances like enzymes or proteins or to carry substances from one place to another.
Sex Linked/x-linked: when chromosome from one mom is faulty, there is a 50/50 chance the child inheriting the disorder.
Multi-factorial: The interaction of many genes with other genes or with environmental factors.

6. Birth Defects: Related Terms to Know
Carrier: a person that carries and passes on a disease or condition without having it him/herself.
Dominant: when a parent is a carrier for a disorder or trait and they have a 50% chance of passing it on to the child.
Recessive: both parents are carriers of the disorder of trait so there is 25% chance of the child inheriting abnormal genes and having the disorder, a 25% chance of receiving normal genes, and a 50% chance of just being a carrier.

7. Birth Defects: Maternal and Paternal Factors that Influence Birth
Name and explain 5 of the MATERNAL factors that influence a baby of having a birth defects
Age…
____________
Name and explain 5 of the PATERNAL factors that influence a baby of having a birth defects
Diet…
____________

8. Birth Defects: Maternal and Paternal Factors that Influence Birth
Women have all of the eggs/ova needed to create a child before they themselves are even born.
Men create new sperm about every 72 hours.
Sperm can become mutated due to the father’s environment, heredity or a combination of both, but even damaged sperm can fertilize an egg and create a child.
Men should follow ALL guidelines given to a woman to prevent birth defect if they are sexually active.

9. Birth Defects: Environmental or Lifestyle factors that can cause birth defects
List 5 Factors:
(example: STI’s)
Of all of the environmental and lifestyle factors presented, which are preventable?
Or what would be considered your fault?

10. Birth Defects: Medical Care to Prevent and/or Detect Birth Defects
Genetic Counseling: Type of medical care that helps couples to understand their genetic codes and how they might affect their children
Amniocentesis: is a test that is performed during pregnancy where a small amount of amniotic fluid is drawn out and examined to detect chromosomal abnormalities.
Ultrasound: is a high frequency sound waves locate the position, size and structure of the fetus, and placenta in the womb.
A pregnant woman should go to 13 prenatal check-ups before the baby is born and begin these by week 13 of her pregnancy to ensure a higher percentage of a healthy pregnancy.
A miscarriage is natures way of expelling a baby incapable of surviving.

12. Birth Defects
This story can easily be related to birth defects. Even though a child with a birth defect may not appear to be perfect, he/she still has great abilities and opportunities to apply him/herself in life. Rather than emphasizing the problem, we must focus on the abilities of the person.
Birth defect:
An abnormality that affects the structure or function of the body.
Everyone is born with some type of imperfection.
Most, like a birthmark, are relatively minor.
Some are born with more serious problems. These are referred to as birth defects.

13. Factors that Influence Birth Defects
Heredity
Environment
A combination of heredity and the environment

14. Causes of Birth Defects
Differ greatly!
Caused by…
Inherited from one or both parents.
Controllable factors in the environment.

15. Environmental Factors
Diet
Diseases or infections of the mother
Harmful substances ingested by the mother
Exposure to outside hazards such as radiation

16. Detecting Birth Defects
Amniocentesis:
Not a routine procedure
Long needle inserted into the uterus.
Amniotic fluid is removed and tested
3-4 weeks to get results
Involves risk of infection, and causing the body to abort the fetus
Only used when there is a valid medical reason, Down’s Syndrome
Ultrasound:
Imaging procedure in which sound waves are bounced off of the fetus to produce a picture.
Can show the development of a fetus and can detect certain defects
Chorionic Villus Biopsy:
Done under extremely serious conditions.
Samples of villi (contained in the membrane containing amniotic fluid) are snipped or suctioned off for analysis.
If one of these tests indicates that a developing child has problems, the couple can confer with their doctor and decide what to do.

17. Helping to Prevent Birth Defects
Early and regular prenatal care
Vaccines
Rh vaccine during pregnancy
Consult with genetic services
Become educated

24. Cleft lip/pallet
Anyone can have it. More common in some races such as Orientals and Native Americans
Appears at birth
Congenital malformation , Multi-factoral
Roof of mouth (palate) not joined.
Treated with surgeries.

25. Cleft Lip/Palate
Cleft palate Cleft palate occurs when the roof of the mouth does not completely close, leaving an opening that can extend into the nasal cavity.
The cleft may involve either side of the palate. It can extend from the front of the mouth (hard palate) to the throat (soft palate). Often the cleft will also include the lip.
Cleft palate is not as noticeable as cleft lip because it is inside the mouth. It may be the only abnormality in the child, or it may be associated with cleft lip or other syndromes. In many cases, other family members have also had a cleft palate at birth.
Cleft lip Cleft lip is an abnormality in which the lip does not completely form during fetal development. The degree of the cleft lip can vary greatly, from mild (notching of the lip) to severe (large opening from the lip up through the nose).

26. Cleft Lip

27. Cleft Palate

28. Clubfoot Anyone can have it Present at birth Many reasons for it.
Foot and ankle twisted making it impossible to walk.
Treated with surgery and corrective shoes.

29. Club Foot
Clubfoot or talipes is a congenital deformity of the foot that occurs in approximately 1:1000 births with half of them being bi-lateral (both feet) and it is twice as common in boys as in girls. The foot has a typical appearance of pointing downwards and twisted inwards. Since the condition starts in the first trimester of  pregnancy, the deformity is quite established at birth, and is often very rigid.
Treatment options:
Serial Plaster Casting
Splints
Non-Surgical Treatment Methods
Ponseti Method
French Physiotherapy Method
Botox - botulinum toxin
Surgery

30. Club Foot

31. Down Syndrome
More common to young or older parents or genetic tendency
Present at birth
21st Chromosome error
Varies from mild to severe
Mental retardation, oval shaped eyes, thick tongue, short neck, small ears, flat and wide nose, short and loose joints, common heart problems
Surgery for heart defect. Help as needed

32. Down’s Syndrome
Down syndrome (DS) is a condition in which extra genetic material causes delays in the way a child develops, and often leads to mental retardation. It affects 1 in every 800 babies born.
Normally, at the time of conception a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 from the mother and 23 from the father. In most cases of Down syndrome, however, a child gets an extra chromosome - for a total of 47 chromosomes instead of 46. It's this extra genetic material that causes the physical and cognitive delays associated with DS.
The symptoms of Down syndrome can vary widely from child to child. While some kids with DS need a lot of medical attention, others lead very healthy and independent lives.

33. Down’s Syndrome

34. Fetal Alcohol Syndrome (FAS)
If mom drank alcohol while pregnant
Appears at birth
Method of Inheritance:
Prenatal
Effects:
Some form of mental retardation
Facial abnormalities
Deformed limbs
Treatment: Special assistance

35. Muscular Dystrophy Anyone Present at birth or later in life
Multifactor, X-linked genetic
Weakening and wasting away of muscles. Sometimes death.
No cure

36. Muscular Dystrophy
Muscular dystrophy (MD) is a genetic disorder that weakens the muscles that help the body move. People with MD have incorrect or missing information in their genes, which prevents them from making the proteins they need for healthy muscles.
MD weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or their symptoms might start later. Some people even develop MD as adults.
The life expectancy for many of these forms of muscular dystrophy depends on the degree to which a person's muscles are weakened as well as how much the heart and lungs are affected.

37. Muscular Dystrophy

38. PKU Anyone Birth Recessive disorder, metabolic defects
Abnormal digestion of protein, mental retardation, hyperactivity
Preventable diet

39. PKU (Phenylketonuria)
Phenylketonuria (PKU) is an recessive genetic disorderr characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH).
This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylketones, which are detected in the urine.
Left untreated, this condition can cause problems with brain development, leading to progressive mental retardation and seizures. However, PKU is one of the few genetic diseases that can be controlled by diet. A diet low in phenylalanine and high in tyrosine can bring about a nearly total cure.

40. Spina Bifida Anyone can get it Present at birth
Many factors cause it—current research links it to Folic Acid deficiency in mother
Can be slight cyst on spine to open spine—legs are paralyzed, poor bladder control
Sores, infertile, legs, paralyzed, poor bladder, bowel control, death
Treated with surgery and therapy
During a spina bifida corrective procedure at twenty-one weeks in utero, Samuel thrusts his tiny hand out of the surgical opening of his mother's uterus. As the doctor lifts his hand, Samuel reacts to the touch and squeezes the doctor's finger. As if testing for strength, the doctor shakes the tiny fist. Samuel held firm. At that moment, I took this "Fetal Hand Grasp" photo.

41. Spina Bifida
Spina bifida is a birth defect that involves the incomplete development of the spinal cord or its coverings. The term spina bifida comes from Latin and literally means "split" or "open" spine.
Spina bifida occurs at the end of the first month of pregnancy when the two sides of the embryo's spine fail to join together, leaving an open area. In some cases, the spinal cord or other membranes may push through this opening in the embryo's back. The condition can typically be detected before a baby is born and treated right away.

42. Neural Tube Defects
Spina Bifida

43. Neural Tube Defects
Anencephaly

44. Neural Tube Defects
Encephaloceles

45. Encephalocele, sometimes known by the Latin name cranium bifidum, is a neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development.[1]There have been studies and evidence linking NTD's to folic acid deficiency. The severity of encephalocele varies, depending on the location. Currently, the only effective treatments are reparative surgeries following birth. The degree to which they can be corrected varies greatly on where and how big the encephalocele is.

46. Drug Related Birth Defects
Thalidomide is a sedative-hypnotic, and multiple myeloma medication. The drug is a potent teratogen in rabbits and primates including humans: this means that severe birth defects may result if the drug is taken during pregnancy

47. From 1956 to 1962, approximately 10,000 children in Africa and Europe were born with severe malformities, including phocomelia, because their mothers had taken thalidomide during pregnancy.[4]
The Australian obstetrician William McBride discovered the link between birth defects and the drug, and was awarded a medal and prize money by the prestigious L'Institut de la Vie in Paris.[5]
The impact in the United States was minimized when Frances Oldham Kelsey refused FDA-approval for an application from Richardson Merrell to market it saying it needed more study. Richardson Merrell gave the tablets to doctors with the understanding that it was still under investigation. 17 children in the U.S. were born with the defects.[6]
In 1962, the United States Congress enacted laws requiring tests for safety during pregnancy before a drug can receive approval for sale in the U.S.[7] Other countries enacted similar legislation, and thalidomide was not prescribed or sold for decades.
However, it was soon found that it was only one particular optical isomer of thalidomide which caused the teratogenicity. The pair of enantiomers, although mirror images of each other, cause different effects.[8]

48. STD Related Birth Defects
Low Birth Weight
Conjunctivitis (Pinkeye)

49. Polydactyl
A congenital anomaly consisting of supernumerary fingers or toes. Each hand or foot has six digits.
Although the condition is usually not life-threatening or even particularly debilitating, most people in Western societies have the extra digits removed surgically.
The extra digit is usually a small piece of soft tissue; occasionally it may contain bone without joints; rarely it may be a complete, functioning digit.

50. Type 1 Diabetes
A form of diabetes which has its onset in childhood. Also referred to as type I diabetes, juvenile onset diabetes or insulin-dependent diabetes. The exact cause is unknown but genetic factors seem to play a major role.
Symptoms include excessive thirst, increased urination, weight loss (despite increased appetite), nausea, vomiting, fatigue and absent menstruation.
Treatment includes education and regular insulin therapy.

51. Diabetes Anyone can get it Occurs at birth or later
Many factors—incl. genetics and overweight
Abnormal metabolism of sugar & insulin
Treated with insulin and diet

52. Hemophilia Sex linked—males Present at birth Genetic
Absence of clotting factor
Treated with transfusions and avoid injury

53. Hemophilia
Hemophilia (heem-o-FILL-ee-ah) is a rare, inherited bleeding disorder in which your blood doesn’t clot normally.
If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed internally, especially in your knees, ankles, and elbows. This bleeding can damage your organs or tissues and, sometimes, be fatal.
About 18,000 people in the United States have hemophilia. Each year, about 400 babies are born with the disorder. Hemophilia usually occurs only in males (with very rare exceptions).

54. Huntington’s disease (Chorea)
Genetic
Shows up in middle age.
Deterioration of body and brain leading to death
No cure

55. Huntington’s Disease
HD results from genetically programmed degeneration of nerve cells, called neurons, in certain areas of the brain. This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance.
Individual experiences mood swings or becomes uncharacteristically irritable, apathetic, passive, depressed, or angry.
HD may affect the individual's judgment, memory, and other cognitive functions. Early signs might include having trouble driving, learning new things, remembering a fact, answering a question, or making a decision.
In some individuals, the disease may begin with uncontrolled movements in the fingers, feet, face, or trunk.
The disease can reach the point where speech is slurred and vital functions, such as swallowing, eating, speaking, and especially walking, continue to decline. Some individuals cannot recognize other family members. Many, however, remain aware of their environment and are able to express emotions.

56. Hydrocephalus Anyone can get it Present at birth or acquired later
Many factors cause it
Fluid (water) builds up on brain causing brain damage
Surgery to put in shunt

57. Hydrocephalus Also called: Water on the brain
Hydrocephalus is the buildup of too much cerebrospinal fluid in the brain. Normally, this fluid cushions your brain. When you have too much, though, it puts harmful pressure on your brain.
Symptoms of acquired hydrocephalus can include:
Headache
Vomiting and nausea
Blurry vision
Balance problems
Bladder control problems
Thinking and memory problems
Hydrocephalus can permanently damage the brain, causing problems with physical and mental development. If untreated, it is usually fatal. With treatment, many people lead normal lives with few limitations. Treatment usually involves surgery to insert a shunt.

58. Marfan Syndrome Genetic—very rare Present at birth
Heart malformed, hearing loss, long and bony limbs
Treated with heart surgery, medicine, therapy

59. Marfan’s Syndrome
Marfan syndrome is a heritable condition that affects the connective tissue. In Marfan syndrome, the connective tissue is defective and does not act as it should.
Marfan syndrome affects men, women, and children, and has been found among people of all races and ethnic backgrounds. It is estimated that at least 1 in 5,000 people in the United States have the disorder.
Marfan syndrome affects different people in different ways. The body systems most often affected by Marfan syndrome are:
Skeleton
Eyes
Heart and blood vessels (cardiovascular system)
Nervous system
Skin
Lungs

60. Sickle Cell Anemia Anyone can get it—more common in blacks
Present at birth
Genetic recessive
Abnormal blood cells—misshaped and unable to carry oxygen
Treated with transfusions

61. Sickle Cell Anemia
Sickle cell anemia is an inherited blood disorder that mostly affects people of African ancestry.
A blood disorder that affects hemoglobin.
Sickle cell anemia occurs when a person inherits two abnormal genes (one from each parent) that cause their RBCs to change shape. Instead of being flexible and disc-shaped, these cells are more stiff and curved in the shape of the old farm tool known as a sickle.
Sickle cells tend to clump together, making red blood cells sticky, stiff, and more fragile. These sickle cells can clog blood vessels and deprive the body's tissues and organs of the oxygen they need to stay healthy.
Unlike normal RBCs that last about 4 months in the bloodstream, fragile sickle cells break down after only about 10 to 20 days, which usually causes anemia.

62. Tay-Sachs Disease More common in Jews (ethnicity, not religion)
Diagnosed by six months—dies around age 3 to 5
Genetic—recessive
Inability to break down fatty deposits in the brain. Nervous system shuts down.
No cure

63. Tay-Sachs
A baby with Tay-Sachs disease is born without one of the important enzymes, that clear out fatty protein and other unwanted material that can interfere with growth. As those fatty proteins build up in the brain, they hurt the baby's sight, hearing, movement, and mental development.
Each year, about 16 cases of Tay-Sachs are diagnosed in the United States. Although Jews of central and eastern European descent are at the highest risk for the disease, it is now also prevalent in non-Jewish populations, including people of French-Canadian/Cajun heritage.
A baby born with Tay-Sachs develops normally in the first 3 to 6 months of life. During the next months the baby will progressively lose the ability to see, hear, and move. A red spot will develop in the back of the child's eyes. The child will stop smiling, crawling, turning over, and reaching out for things. By the age of 2, the child may have seizures and become completely disabled. Death usually occurs by the time the child is 5 years old.

64. Cerebral Palsy
Brain malformed, injured at birth, or damaged later in life
Not inherited
Ranges from super intelligent to severely retarded
Affects brain’s ability to control muscles
Treat the symptoms

65. Thalassemia Genetic—recessive More common in Greeks and Italians
Present at birth
Abnormal red blood cells, not enough red blood cells.
Treated with blood transfusions

66. Cooley’s Anemia (Thalassemia)
Thalassemia is an inherited blood disorder that causes mild or severe anemia. The anemia is due to reduced hemoglobin and fewer red blood cells than normal.
The most severe form of alpha thalassemia is known as alpha thalassemia major. It can result in miscarriage.
The severe form of beta thalassemia is also known as Cooley’s anemia.
The most common treatment for all major forms of thalassemia is red blood cell transfusions. These transfusions are necessary to provide the patient with a temporary supply of healthy red blood cells with normal hemoglobin capable of carrying the oxygen that the patient's body needs.

67. Toxoplasmosis
The earlier in pregnancy the mother is infected, the lower is the risk of an infection of the fetus, but the severer is the disease. The later in pregnancy the mother is infected, the higher is the possibility of fetal infection, and the disease is less severe
 Parasitic infection from cat fecal matter or undercooked/raw meat
Infected children have seizures, hearing loss, jaundice, blindness, mental retardation
Prevent by cooking meat, not being around cats

68. Color blindness Sex Linked--Males Present at birth
Inability to distinguish certain colors.
No cure—learn to accommodate

69. Cystic Fibrosis Recessive genetic
Usually present at birth—can show up later
Lack an enzyme so mucous builds up especially in lungs and digestion.
Treated with drugs, and pounding on back.

70. Cystic Fibrosis
Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:
Clogs the lungs and leads to life-threatening lung infections; and
Obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.
In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, many people with the disease can now expect to live into their 30s, 40s and beyond.

71. Color Blindness
Color blindness, or color vision deficiency, in humans is the inability to perceive differences between some or all colors that other people can distinguish. It is most often of genetic nature, but may also occur because of eye, nerve, or brain damage, or due to exposure to certain chemicals.

72. Acondroplasia (Dwarfism)
A genetic disorder of bone growth that is evident at birth. It affects about one in every 20,000 births and it occurs in all races and in both male and female genders. It is estimated that there are about 10,000 individuals with this disorder in the United States.
When a person has Acondroplasia, abnormal cartilage at the growth plates of the bones in the body causes their short stature. Men with this disorder are usually less than 52 inches tall and women are somewhat shorter.

73. Watch Elliot's Story 99 Balloons

74. Reflection Questions
Which birth defect did you find most interesting to learn about? Why?
Which birth defect did you find sad or scary? Why?
Learning about genetics, heredity, and birth defects has helped to prepare me to become a parent by….
How are you going to use this new information to better your future?