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A Healthy Pregnancy Unit Four Genetic Problems in Prenatal Development 1 Objectives Name and describe specific types of Birth Defects Discuss the causes of Birth Defects Identify how birth defects can be diagnosed and prevented Note: 150,000 babies are born each year with birth defects 1 out of 28 babies 2 Birth Defects A Birth Defect is an abnormality present at birth, that affects the structure or function of the body. Premature Babies are born before their development is complete (pregnancy less than 36 weeks or weigh less than 5.5 lbs). They are vulnerable to infection, lung ailments and other problems. In some cases if prenatal development is not proceeding normally, a miscarriage ( the natural ending of a pregnancy before the fetus could possibly survive) occurs. A stillbirth is the natural ending of a pregnancy after 20 weeks. 3 Causes of Birth Defects Some birth defects are caused by Heredity and others by the Environment. Heredity Defects are inherited from one or both parents. Environmental Defects are caused by facors in he environment. 4 Hereditary Causes Everyone has five or six imperfect recessive genes among thousands that make up the genetic blueprint. Normal genes are usually dominant over recessive genes. If both parents pass on the same defective recessive gene for a particular defect, the child will be born with that defect. 5 Hereditary Defects Some hereditary defects are inherited conditions that affect males only. Hemophilia, a condition that affects blood clotting and Color Blindness are such conditions. Color blindness charts 6 Hemophilia Hemophilia is a genetic disease: Mutations on the X chromosome result in low levels of blood clotting factors. The mutations that cause low levels of clotting factor are carried recessively on the X chromosome. As women have two X chromosomes (XX), the mutated gene would have to be present on both chromosomes to cause the disease, and this is exceedingly rare. Since men have only one X chromosome (XY), one copy of the mutated hemophilia gene is enough to cause the disease, so males who inherit the gene will be affected. 7 Cystic Fibrosis Cause- genetic Description-Respiratory and digestive problems Below a CF Lung on left compared to a Healthy Lung on right 8 Cystic Fibrosis - A Genetic Disorder Cystic Fibrosis is a genetic disease, meaning it is caused by a defect in the person's genes. Cystic Fibrosis is a chronic, frequently fatal, progressive, genetically (inherited) disease of the body's mucus glands. Cystic Fibrosis primarily affects the respiratory and digestive systems in children and young adults . Cystic Fibrosis affects the body's ability to move salt and water in and out of cells. This defect causes the lungs and pancreas to secrete thick mucus, 9 Rh Factor - Genetic Defect 1. 2. A blood test is also used to check the Rh factor in the blood. A person’s blood is either: Rh positive - having a certain protein or Rh negative - not having that protein Problems can arise if he mother’s blood lacks the protein and the fetus’s blood has it. ( the fetus may inherit this blood factor from the father). The mothers blood will produce anti-bodies that attack the protein in the fetus’s blood as though it were a germ. Doctors can inject a chemical into the mother o prevent the problem from arising. 10 Other Genetic Disorders Special therapy and schooling are part of treatment for Down’s Syndrome Children Down’s Syndrome May include mental retardation, delayed development, heart defects Chromosomes are made up of DNA and protein & are located in the nucleus of each cell. Because chromosomes are carriers of genetic material, abnormalities in chromosome structure (such as missing or extra copies or gross breaks), can result in disease. 11 Down syndrome Down syndrome or trisomy 21 is a common disorder that occurs when a person has three copies of chromosome 21. One in every 650 births has this condition. 12 Cleft Lip / Cleft Palate A cleft lip is a separation of the two sides of the lip. The separation often includes the bones of the upper jaw and/or upper gum. A cleft palate is an opening in the roof of the mouth in which the two sides of the palate did not fuse, or join together, as the unborn baby was developing One of every 700 newborns is affected by cleft lip and/or cleft palate. Cleft lip and cleft palate are birth defects, which occur very early in pregnancy. The majority of clefts appear to be due to a combination of genetics and environmental factors. 13 Cerebral Palsy Cerebral Palsy (CP) is a term used to describe a group of disorders affecting body movement and muscle coordination. Development of the brain starts in early pregnancy and continues until about age three. Damage to the brain during this time may result in cerebral palsy. 14 MUSCULAR DYSTROPHY Muscular Dystrophy (MD) is the name of a group of muscle disorders that are characterized by progressive weakness and wasting of the voluntary muscles that control body movement. As muscle tissue weakens and wastes away, it is replaced by fatty and connective tissue. 15 MUSCULAR DYSTROPHY Cause Heredity [ female male] Most types of MD are hereditary . The most common form is transmitted by female carriers of the gene but affects only males. Description Weakness and shrinkage of the muscles Death before adulthood 16 PKU What is Phenylketonuria (PKU)? PKU is a genetic disorder which prevents the normal use of protein food. Mental retardation can result. To be affected by this hereditary condition (carried on a recessive gene) a child must have two copies of the defective gene (one from each parent). The condition can be treated with a high degree of success if diagnosed shortly after birth. A special diet can reduce or prevent brain damage. 17 The Genetics of PKU Genes can sometimes contain mistakes so that the cell can't read them properly. We can call this a "non-working gene". The gene that is important in PKU is located on the chromosome pair number 12. People with PKU have two non-working copies of this PKU gene. One copy they inherited from mom, and the other from dad. Usually, parents don't even know they are carriers of PKU until they have a baby who has PKU. 18 Sickle-Cell Anemia Sickle cell anemia occurs when a person inherits two abnormal genes (one from each parent) that cause their red blood cells to change shape. Instead of being flexible and round, these cells are more rigid and curved in the shape of the farm tool known as a sickle 1. Normal Red Blood Cells 2. Sickled Red Blood Cells 19 Sickle Cell Anemia Sickle cell anemia is a hereditary disorder that mostly affects people of African ancestry, but also occurs in other ethnic groups, including people who are of Mediterranean and Middle Eastern descent . People with sickle cell anemia can experience complications from blood circulation and infection-fighting problems . 20 Tay-Sachs Disease Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. Tay-Sachs disease affects children who inherit two copies of an altered gene from their carrier parents. Carriers of Tay-Sachs disease are not affected themselves, because they have a working gene as well as an altered one. Carrier parents have a onein-four chance of having an affected child, a one-in-two chance of having a child who is an unaffected carrier and a one-in-four chance of having a child who doesn't carry any altered genes. 21 Spina Bifida The risk of having a baby with spina bifida is 2-3 percent. It is well established that taking folic acid prior to pregnancy as well as in the first trimester will decrease spina bifida in the general population by 70 percent. 22 Spina Bifida Spina bifida usually is an isolated birth defect. Although scientists believe that genetic and environmental factors may act together to cause this. 23 Genetic Counseling Some genetic or chromosomal defects can be predicted by genetic counseling. It tells parents in advance the statistical odds that their children will have certain diseases or defects. It explains options and risks. 24 Prenatal Tests If a woman is pregnant, her doctor may request tests to determine birth defects. Ultrasound is a technique of using sound waves to make a video of an unborn baby to check for specific health problems. 25 Prenatal Tests Amniocentesis is the process of withdrawing a sample of he amniotic fluid surrounding the unborn baby with a special needle and testing that fluid for indications of specific birth defects or other health problems. 26