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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 The King and the Scratched Diamond…
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. Birth Defects
Heredity Environment A combination of heredity and the environment Factors that Influence Birth Defects
Differ greatly! • Caused by… • Inherited from one or both parents. • Controllable factors in the environment. Causes of Birth Defects
Diet Diseases or infections of the mother Harmful substances ingested by the mother Exposure to outside hazards such as radiation Environmental Factors
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. Detecting Birth Defects
Early and regular prenatal care Vaccines Rh vaccine during pregnancy Consult with genetic services Become educated Helping to Prevent Birth Defects
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.
Cleft palateCleft 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 lipCleft 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). Cleft Lip/Palate
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.
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 Club Foot
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
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. Down’s Syndrome
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 Fetal Alcohol Syndrome (FAS)
Muscular Dystrophy • Anyone • Present at birth or later in life • Multifactor, X-linked genetic • Weakening and wasting away of muscles. Sometimes death. • No cure
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. Muscular Dystrophy
PKU • Anyone • Birth • Recessive disorder, metabolic defects • Abnormal digestion of protein, mental retardation, hyperactivity • Preventable diet
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. PKU (Phenylketonuria)
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 http://www.michaelclancy.com/slideshow/ 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.
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. Spina Bifida
Neural Tube Defects • Spina Bifida
Neural Tube Defects • Anencephaly
Neural Tube Defects • Encephaloceles
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.
Drug Related Birth Defects • Thalidomide is a sedative-hypnotic, and multiple myelomamedication. 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
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]
Low Birth Weight Conjunctivitis (Pinkeye) STD Related Birth Defects
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. Polydactyl
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. Type 1 Diabetes
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
Hemophilia • Sex linked—males • Present at birth • Genetic • Absence of clotting factor • Treated with transfusions and avoid injury
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). Hemophilia
Huntington’s disease (Chorea) • Genetic • Shows up in middle age. • Deterioration of body and brain leading to death • No cure
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. Huntington’s Disease
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 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. Hydrocephalus
Marfan Syndrome • Genetic—very rare • Present at birth • Heart malformed, hearing loss, long and bony limbs • Treated with heart surgery, medicine, therapy
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 Marfan’s Syndrome
