BIRTH DEFECT (CACAT BAWAAN)

1. BIRTH DEFECT(CACAT BAWAAN) M. Mansyur Romi

2. What Are Birth Defects? • 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 of them can be treated or cured, they are the leading cause of death in the first year of life.

3. According to the March of Dimes, about 150,000 babies are born with birth defects each year in the United States. The American College of Obstetricians and Gynecologists (ACOG) says that out of every 100 babies born in the United States, three have some kind of major birth defect. Birth defects can be caused by genetic, environmental, or unknown factors.

4. Problems in Prenatal Development • Sometimes a pregnancy begins, but a baby doesn’t develop normally • If the baby dies before the 20th week it is called a miscarriage • If the baby dies after that time, it is called a stillbirth. • 15-20% of recognized pregnancies end in miscarriage • 2% ends in stillbirth

6. Birth Defects • Some babies survive the pregnancy but are born with serious problems called birth defects. • 3% of all live-born infants have an major anomaly • Additional anomalies are detected during postnatal live – about 6% at 2 year-olds, 8% in 5year-olds, other 2% later • Single minor anomalies are present in about 14% of newborns

7. Birth defects • Major anomalies are more common in early embryos (up to 15%) than they are in newborns (3%). Most severely malformed embryos are spontaneously aborted during first 6 to 8 weeks. • Some birth defects include: • Cerebral Palsy • Cleft Lift and/or palate • Down Syndrome • Muscular Dystrophy • Sickle Cell Anemia • Spina Bifida and more!

8. Causes of Birth Defects • Some causes are environmental because it is during the first few weeks that a baby develops all the bodily systems needed for survival • The mother’s diet • Any diseases or infections the mother has • Harmful substances • Some medicines • Exposure to hazards (such as chemicals, X-rays, etc.) • Some causes are hereditary • Sometimes a child inherits a defective gene that is dominant such as Huntington's • Some conditions affect only one sex and usually it’s the males • Hemophilia • Color blindness and more

9. More Causes of Birth defects • Errors in chromosomes • Such as when a baby has too many or too few chromosomes or has broken or rearranged chromosomes • This usually leads to Down Syndrome

10. Prevention and Diagnosis of Birth Defects • All types of birth defects cannot be anticipated or controlled, but there are several things that couples can do to minimize the chances. • Genetic counseling for those who have a history of birth defects in their family • Prenatal tests that can also determine whether or not a baby will be born with a birth defect • AFP tests the protein levels in the liver and an abnormal level could me a birth defect • Ultrasound can help determine problems with the baby’s skeletal, circulatory, or nervous systems. • Amniocentesis is when fluids are withdrawn fro the amniotic fluid and taken to a lab to be tested for birth defects

11. Prenatal Tests • Maternalblood sampling (AFP, HCG, UE) • Amniocentesis • Chorionic villous sampling (CVS) • Cordocentesis • Ultrasonography (USG) • Embryo biopsy

12. Some causes of increased maternal serum AFP concentration • Undersestimated gestational age • Threatened abortion • Multiple pregnancy • Fetal abnormality: anencephaly, open neural tube defect, anterior abdominal wall defect, Turner’s syndrome, bowel atresias, skin defects • Placental hemangioma Decreased matenal serum AFP concentration: • Trisomy 21, 18

13. amniocentesis

14. Chorionic Villus Sampling (CVS)

15. During the first trimester of pregnancy the two sides of the mouth and lip area grow together. A combination of genetic and environmental factors sometimes interfere with this development, and a cleft results. Cleft Palate... Clefts often involve the lip, the roof of the mouth (hard palate) or the soft tissue in the back of the mouth (soft palate).

16. Cleft Palate... In addition to needing plastic surgery to repair the opening, these children may have problems with their feeding and their teeth, their hearing, their speech, and their psychological development as they grow up. Medical and technology advances have been invaluable in the treatment of the cleft lip and palate. Clefts occur 1 time in 1,000 births in Caucasians, more often in Asians and Native Americans, and less often in African Americans.

18. The top arrow points to a part of the spine that is properly closed. The bottom arrow points to an area that is improperly closed… spina bifida. Spina bifida... The area where the bones are not properly closed allows the cord, tissue, and/or fluids to protrude. The location of the “opening” on the spine is critical. Areas and functions below the hole are affected. Some areas above the hole may be affected as well, especially the brain, as it is connected to the spinal cord and nervous system.

20. Normally within the brain there are some cavities named ventricles, where a liquid known as Cerebrospinal Fluid (CSF) is produced. The purpose of this is to protect the brain and spinal cord, acting as a shock absorber. It also carries away disposed materials. The CSF circulates from the ventricles towards a space that exists between the brain and the membranes (meninges) that surround it, from where it is "eliminated", into the blood stream. Hydrocephalus... In the individual with hydrocephalus, the fluid does not drain away properly, but accumulates. In an infant, the seams of the skull have not yet fused, so the skull gets bigger as the fluid accumulates.

21. Hydrocephalus... A miniature pump called a shunt is placed in the head to remove off excess fluid. This baby recovers after having surgery to install a shunt.

23. Cerebral Palsy... Disabilities, whether physical or mental, vary widely between individuals depending on the type and amount of brain damage. What is cerebral palsy?Cerebral palsy is the name given to a condition which affects the way the brain controls the muscles of the body. This results in difficulties in movement and posture. "Cerebral" - refers to the brain"Palsy" - can mean weakness or paralysis or lack of muscle control

24. Causes of cerebral palsyCerebral palsy is the most common physical disability in childhood. It is estimated 2 to 3 people out of every 1000 will have cerebral palsy. This condition is not hereditary and there is no cure. Many causes of cerebral palsy are still not known or understood. Injury or changes to the developing brain are associated with cerebral palsy.For example, it is known the developing brain can be injured by:* Exposure to certain infections such as Rubella (German Measles) in the early months of pregnancy* Reduced oxygen supply to the baby during or after birth* Exposure of an infant to severe infection shortly after birth or the first few weeks of life.* An accident in the early years of life; for example, with a near drowning or motor vehicle accident. Cerebral Palsy... Careful monitoring during the birth process may prevent some types of brain injury.

25. Club Foot... Club foot is a birth defect of the foot and ankle. It can occur in one or both feet. Advances in medicine have been useful in the surgical correction of problems. This defect occurs in the first trimester of pregnancy… during formation.

27. Hemangioma... The vast majority of hemangiomas fall into the category of port-wine stains or small “birthmarks”, with only 15% being of the tumor variety or needing medical intervention.

28. To remove some protruding hemangiomas surgically would result in bleeding to death. As the blood vessels in the area die, part or all of the mass can be removed. Laser surgery has been extremely effective for hemangiomas…even removal of the “stain” variety. Hemangioma...

29. Sickle Cell Anemia... Sickle cell anemia is an inherited blood disorder. In sickle cell anemia, the body produces an abnormal form of hemoglobin. Hemoglobin, a protein responsible for transporting oxygen to all parts of the body, is a component of redblood cells. NORMAL ABNORMAL Named after this cutting tool… a sickle. Sickle cell disease, also called sickle cell anemia, primarily affects people of African descent, but also occurs in some people of Mediterranean, Middle Eastern and East Indian origin. Among blacks, one newborn in 375 develops the disease.

30. Fetal Alcohol Syndrome... ANY consumption of alcohol during ANY time during the gestation period can damage a baby’s brain. Fetal Alcohol Syndrome (FAS) and Fetal Alcohol Effects (FAE) are growing problems in the United States. Despite the warnings posted in bars and restaurants and the increased media attention given to the perils of alcohol use during pregnancy, the rate of drinking among women of childbearing age continues to rise. The incidence of FAS may be as high as 12,000 per year, with FAE evident in up to 36,000 infants per year. Drinking during pregnancy affects not only the mother, but also the growing fetus. Alcohol can cause physical deformities and neurobehavioral deficits in the infant and growing child. Thus, it is not surprising that FAS is the leading cause of mental retardation and the only one that is preventable.

31. Fetal Alcohol Syndrome... Facial characteristics that suggest the diagnosis of FAS.

32. Faces of... Fetal Alcohol Syndrome Prenatal and/or postnatal growth delay (height and/or weight below the tenth percentile, Central nervous system (brain) involvement (conditions such as head circumference below the third percentile, intellectual impairment, learning disabilities, attention deficit/hyperactivity or other neurological abnormalities), Characteristic facial features (short eye slits, flat mid face, long/indistinct space between nose and upper lip, and thin upper lip.

33. Muscular Dystrophy... Entertainer Jerry Lewis has made it his life-long mission to raise funds to find a cure for muscular dystrophy. Each year millions of dollars are collected from the traditional Labor Day television marathon. What is muscular dystrophy?  Muscular dystrophy (MD) refers to a group of degenerative muscle diseases. The nine major forms of muscular dystrophy are: Duchenne, Becker, Facioscapulohumeral, Myotonic or Steinert's Disease, Limb-Girdle, Congenital, Oculopharyngeal, Distal,and Emery-Driefuss. Each of these individual forms affects only two in 10,000 persons, but that amounts to 18 total per 10,000, and that is not a good statistic. All forms are genetically linked. The DNA pattern prevents the body from making the necessary muscle-building protein called dystrophine.

34. Muscular Dystrophy... • The symptoms common to all forms of muscular dystrophy are progressive weakness and atrophy (wasting) of skeletal muscles. Those are the muscles under voluntary control. Whether or not they are ultimately lethal (as in Duchenne muscular dystrophy when death often occurs by age 5) or relatively mild (as in facioscapulohumeral muscular dystrophy when the person lives a normal life span) is related to:  • Age of onset of symptoms (from neonatal to late adulthood)  • Muscles first and most often affected  • Whether or not there is involvement of the heart (different than skeletal muscle, but also a kind of muscle) or other organs  • Degree of functional disability resulting from symptoms • Rate of progression of disease (from slow to rapid)  • Complications may include: Deformity, decreased ability to care for oneself, heart problems and breathing problems.

36. Down's Syndrome... Down’s Syndrome is a genetic disorder caused by an extra 21st chromosome. The egg carries 23 chromosomes; the sperm carries 23 chromosomes; the developing embryo should have 23 PAIRS of chromosomes…with no spares! Down’s Syndrome results in mental retardation. It was once known as Mongoloidism.

37. Down's Syndrome... Physical Characteristics: Muscle hypotonia, low muscle tone Flat facial features, a somewhat depressed nasal bridge and a small nose Upward slanted eyes, small skin folds on the inner corner of the eyes Short neck Misshaped ears White spots on the colored part of the eye Single skin crease in the palm of the hand Excess flexibility in joints Heart defects Sight and hearing problems Large and protruding tongue Fifth finger has one flexion furrow instead of two Excessive space between large and second toe

38. Down's Syndrome... A risk factor is something that increases your chance of getting a disease or condition. Genetics: If either parent is a carrier of a specific type of Down's syndrome there is an increased risk of giving birth to a child with this type of Down's syndrome. Age: The chance of having a child with Down's syndrome increases after a woman reaches age 35. Sex: More boys are born with Down's syndrome.

40. Marfan Syndrome... Marfan's syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan's syndrome may exhibit long limbs and spider-like fingers, chest abnormalities (inversion of the septum), curvature of the spine and a particular set of facial features including a highly arched palate, and crowded, crooked teeth. The most significant of the defects in the syndrome are cardiovascular abnormalities, which may include enlargement (dilatation) of the base of the aorta. Since Marfan's syndrome is usually an inherited or genetic disorder, prospective parents with a family history of Marfan's syndrome should get genetic counseling.

41. Marfan Syndrome... It is named after it’s discoverer, Dr. Marfan. Those who have the syndrome have the unique characteristics. Do these characteristics look familiar? It is now believed that Abraham Lincoln may have had Marfan’s Syndrome. Life expectancy may be shortened by complications fromthe heart abnormalities.

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