Birth Defects

April 21, 2023

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

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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.

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Factors that Influence Birth Defects

• Heredity• Environment• A combination of heredity and the environment

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Causes of Birth Defects

• Differ greatly!• Caused by…– Inherited from one or both parents.– Controllable factors in the environment.

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Environmental Factors

• Diet• Diseases or infections of the mother• Harmful substances ingested by the mother• Exposure to outside hazards such as radiation

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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.

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Helping to Prevent Birth Defects

• Early and regular prenatal care• Vaccines• Rh vaccine during pregnancy• Consult with genetic services• Become educated

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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).

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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 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).

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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

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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.

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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.

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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

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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.

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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.

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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.

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