Birth Defects from Maternal Infection
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Did you know that some birth defects are passed on to babies by means of infection? Watch this video and learn in detail about birth defects from maternal infection.
Transcript: While many birth defects are passed from parent to child via genetic material means, others are transmitted...
While many birth defects are passed from parent to child via genetic material means, others are transmitted via infection. When a mother has an illness that results in a birth defect in her baby, it is known as a congenital infection. Some congenital infections stem from untreated sexually transmitted diseases, like genital herpes or syphilis. Genital herpes is an STD that causes sores on the genital area. If a woman is having a genital herpes outbreak when she delivers, several outcomes are possible, depending on when she contracted the infection. Women who acquire genital herpes for the first time near the time of delivery have a 30 to 50 percent chance of passing the infection on to their babies during a vaginal delivery, whether or not they have symptoms. However, women who have had herpes before pregnancy and have a flare-up or silent infection at the time of vaginal delivery have ONLY about a 3 percent chance of infecting their babies in A newborn with herpes may have lasting disabilities like cerebral palsy, mental retardation, seizures, as well as vision and hearing loss, and in the most severe cases, death. While this is frightening, it CAN usually be avoided if a mother gives birth via c-section. While there is no cure for herpes, antiviral drugs can shorten the duration of an attack and help relieve symptoms. In the months leading up to the birth, a pregnant woman may take acyclovir, a herpes-fighting anti-viral medication. This drug appears safe in pregnancy and has not been associated with birth defects with more than 20 years of use. Birth defects can also stem from a bacterial STD called syphilis. When left untreated, this disease often causes bone defects, brain damage, blindness, stillbirth, and newborn death. The good news is that preventing these consequences is as easy as being tested for syphilis early in pregnancy and then getting treated with an antibiotic, like penicillin. Of course, its not just sexual infections that can cause birth defects in a baby! If a woman contracts rubella in her first trimester, there is an 85-percent chance that her newborn will be negatively affected. But if she is infected at the end of her second trimester, that risk drops to 25-percent. Although vaccinations have LARGELY eliminated Rubella from the United States its still wise to get tested and vaccinated if YOU are not immune. If youre pregnant, youll also want to be aware of a parasitic infection called toxoplasmosis, which comes primarily from contact with cats, most specifically with their fecal matter. Absolutely NO changing kitty litter while pregnant! Cats get toxoplasmosis from other cats or from consuming raw meat. Humans can sometimes contract this from meat as well, so beware under-cooked meat. Between 400 and 4,000 babies are born with toxoplasmosis annually. These infants may develop enlarged livers and spleens, pneumonia, mental retardation, or cerebral palsy, as well as seizures, vision loss, jaundice and in some cases death within a few days of birth. Treatment for pregnant women with toxoplasmosis is still in its experimental stage, so its wise to take precautions to bypass the virus altogether. The best way to avoid toxoplasmosis is to limit contact with cats, if possible, and if a meat-eater, to eat well-cooked meat. Less common infections that can lead to birth defects include: Fifth Disease, a common, usually mild viral infection, spread through the air via coughs or sneezes. It can, however, lead a newborn to experience anemia and/or heart failure. Varicella disorder, which stems from a pregnant woman contracting chicken pox, or varicella in the first or second trimester of her pregnancy, can cause defects in a newborn ranging from small stature to mental retardation. If youre pregnant or planning to become pregnant, talk to your doctor about how to avoid these infectionsand also discuss what to do if you are exposed to any of them during pregnancy!More »
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According to research, one in thirty three babies in the United States is born with a birth defect. Learn more about them in our video.
Transcript: According to the Center for Disease Control In the United States, and the American College of Obstetricians...
According to the Center for Disease Control In the United States, and the American College of Obstetricians and Gynecologists, one in 33 babies will be born with some form of serious birth defect. A birth defect is an abnormality in the way a newborn's body looks or functions. Birth defects can lead to cognitive, emotional, or physical disabilities, and in some cases, they can be fatal. To understand birth defects, it's key to understand that there are two overarching types structural and functional, or developmental. STRUCTURAL birth defects are those that occur when a specific body part is missing or has formed incorrectly. Both heart defects and spina bifida, a birth defect caused by the incomplete closure of the embryonic neural tube, which results in the spinal cord not being fully formed and covered, are both examples of structural defects. FUNCTIONAL birth defects, meanwhile, refer to problems with the way a body part or system functions. These problems often lead to developmental disabilities. Tay-Sachs disease, which is a fatal disorder of the central nervous system, is an example of a functional birth defect. Of ALL birth defects, the three most common are: heart defects, which affect as many as one in 100 babies in the USA according to the CDC and March of Dimes. Cleft lips and cleft palates, which occur in one in 700 newborns in the United States, according to the CDC and Down syndrome, which affects about one in 733 babies born in the USA, according to the National Down Syndrome Society. Birth defects can be caused by factors relating to the environment, to genetics, or to a combination of the two. One of the most common reasons GENETIC defects occur is that one or more of a baby's 20,000-25,000 genes is missing or flawed. Problems of this nature can be passed to a baby from either-or both-parents. These are called single-gene defects, which are mutations in a single gene, and they include a form of dwarfism, Achondroplasia , which affects about 1 in 15,000 to in 40,000 births, and occurs in all races and in both sexes and the serious lung disorder cystic fibrosis. Genetic birth defects can ALSO arise when something goes wrong with a baby's chromosomes. A healthy human has 23 pairs of chromosomes, or 46 in total. But, if an error occurs during an egg or a sperm cell's development...a baby created from that egg or that sperm can be born with too few, too many, or damaged chromosomes. Down syndrome is an example of a chromosomal birth defect, which occurs when an additional chromosome is added to the 21st pair of chromosomes. Thus, it is aptly called Trisomy 21. While genetic birth defects like these are common, so are ENVIRONMENTAL birth defects. Drinking alcohol during pregnancy is an environmental factor that can lead to the development of some potentially serious defects. Each year between 1,000 and 6,000 babies in the United States are born with fetal alcohol syndrome or FAS, which manifests as a pattern of mental and physical birth defects common in babies of mothers who drink heavily during pregnancy. Other common environmental teratogens, or toxic substances know to affect fetuses, include: certain recreational drugs, like crack and cocaine, and prescription drugs, like Acutane, You must check with your doctor before continuing any prescription drugs you may be taking. And if you have a drug or alcohol problem, talk to your healthcare provider, getting help early is critical for the baby's health! A woman's risk of having a baby with certain birth defects involving chromosomes is also likely to increase with age. Paternal age is also a factor in birth defects. Other environmental birth defects may stem from infections that a woman may contract during pregnancy. A rubella infection, for example, can lead to heart defects, vision and hearing problems, or in more serious cases, mental retardation in a baby. The weeks before and during the first trimester are most dangerous for infection of a fetus with respect to rubella infection. Additionally, a mother's untreated sexually transmitted disease can be passed to a newborn and cause problems. For example, the transmission of genital herpes could lead to brain damage or cerebral palsy in a baby. Sometimes, a birth defect will be multifactorial, arising from a COMBINATION of genetics and environment. In cases like these a baby may inherit a gene that will make him MORE likely to have a birth defect... but ONLY if he is exposed to certain environmental substances, like a virus or cigarette smoke. OR if the mother doesn't get enough folic acid before becoming pregnant in the case of Neural Tube Defects like Spina bifida. As for heart defects, exposure to certain medications during the first trimester of pregnancy may play a role in causing heart defects. Other causes include maternal alcohol abuse, rubella infection, and diabetes during pregnancy." Whatever their cause, birth defects can be confusing, overwhelming, and devastating. So if YOUR child is affected, speak with your doctor about treatment for him and support for you.More »
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You can test for some birth defects before giving birth. Learn more about prenatal testing for birth defects in this video.
Transcript: In the United States, about one in 33 babies are born with a birth defect, many of which can be detected...
In the United States, about one in 33 babies are born with a birth defect, many of which can be detected while the baby is in the womb. For some parents, testing for birth defects begins even BEFORE they are pregnant! Known as genetic testing, or carrier screening, pre-pregnancy testing involves taking blood samples from both prospective parents. The samples are then screened for abnormal genes, which could potentially lead to a genetic birth defect, like cystic fibrosis or sickle cell anemia. If gene abnormalities ARE detected, the parents may meet with a genetic counselor to discuss their options, which range from finding out AFTER their baby's birth if there is a problem, using In Vitro Fertilization, or IVF, to ensure that the egg and sperm are free of the potential genetic anomaly, to getting pregnant using a donor sperm or egg. Because many pregnancies are unplanned, some parents choose to undergo genetic testing in the early weeks after conception. But even if they skip this step, most DO consent to a screening called the Nuchal Translucency Test, or NT. An NT is an ultrasound-based test that is usually given between weeks 11 and 14 of a pregnancy. This screening measures a baby's risk for developing chromosomal abnormalities like Down syndrome and trisomy 18, and certain major heart problems. During an NT, the clear space at the back of a fetus's neck, the nuchal fold, is measured. Babies with chromosomal abnormalities tend to have thicker nuchal folds, which appears as more translucent space in this area. Like all screenings, an NT does NOT definitely say if there is a problem. Instead, a Nuchal Translucency Screening, usually done in conjunctions with a blood test, which is sometimes referred to as a sequential screen shows, with 90 to 94 percent accuracy, how LIKELY it is that a genetic abnormality is present. If the risk is high, there are several options available. For one, she can wait until early in her second trimester to have a multiple marker screening. This blood test looks for three substances, which may indicate the presence of a chromosomal birth defect or a neural tube defect, like spina bifida. Like an NT, the multiple marker screening can predict the likelihood of an abnormality with about 70 to 85 percent accuracy. To know for sure if there's a problem, it's necessary to undergo one of two diagnostic tests: chorionic villus sampling, or an amniocentesis. Chorionic villus sampling, or CVS, is performed in the first trimester, between the 11th and 13th week of pregnancy. During the procedure, a doctor obtains a sample of tiny projections on the placenta called chorionic villi. The extraction is performed through the cervix, using a catheter or through the abdomen, using a long, thin needle. The placenta sample is then sent to a lab, where screening can tell whether a baby has a chromosomal abnormality or a genetic disorder. But CVS does NOT test for neural tube defects and the rate for miscarriage is higher with this procedure than it is with amniocentesis, a more thorough diagnostic test given in the second trimester. Amniocentesis is performed during weeks 16 to 20 of a pregnancy. The test involves inserting a long, thin needle into the abdomen to extract a sample of a baby's amniotic fluid. This fluid is then analyzed for the presence of chromosomal defects. The average rate of miscarriage for CVS is about 1 in 200, and the rate of miscarriage for amniocentesis ranges from 1 in 200 to over 1 in 1,000. MUCH depends on the skill of the person performing the test, so be SURE to research the doctor working with you! Because each procedure is more than 99 percent effective at testing for birth defects, many couples decide that the risk is worth it. If either a chorionic villus sampling or amniocentesis comes back positive, it's wise to seek the knowledge of a genetic counselor. Even parents with no intention of terminating a pregnancy can benefit from learning, as much as they can about their baby-to-be's condition. So remember: If you're pregnant or thinking about becoming pregnant, talk to your doctor about screening for genetic birth defects.More »
Last Modified: 2013-04-09 | Tags »
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There's a range of possible birth defects and some, such as Down syndrome, are due to chromosomal abnormalities in a baby. Watch this video to learn about chromosomal birth defects.
Transcript: According to the March of Dimes, about one in 150 children are born with a chromosomal birth defect....
According to the March of Dimes, about one in 150 children are born with a chromosomal birth defect. Chromosomes are string-like structures of DNA and proteins that carry a person's genes. At conception, an embryo should receive 23 chromosomes from its mother's egg cell and 23 chromosomes from its father's sperm cell. All told, a healthy infant will be born with 46 chromosomes total. However, genetic birth defects can arise when something goes wrong with a baby's chromosomes. Occasionally, a sperm or egg cell will become damaged during its creation, or during the process of cellular division. If an error occurs during an egg or a sperm cell's development, a baby created from that egg or sperm can be born with too few, too many, or damaged chromosomes. A damaged chromosome is basically a cell that did not divide properly. It either deleted, added or copied a gene or, set of genes, to the wrong place. This is known as a chromosomal abnormality, and it can result in a number of birth defects. Usually, an embryo with an incorrect number of chromosomes does not survive. In fact, it is estimated that 75% of first trimester miscarriages are related to a chromosomal abnormality. If a baby with a chromosomal abnormality does live, he or she may be born with three copies of one chromosome instead of two. This chromosomal abnormality is called a trisomy. One of the most common trisomys is Down syndrome, which occurs when a child receives three copies of the 21st chromosome. There are a number of chromosomal abnormalities that involves the sex-determining chromosomes. To understand them, let's look at the chromosomal make up of a normal boys and girls. A baby boy has an X and a Y chromosome, while a baby girl has two X chromosomes. Sometimes an infant is missing one chromosome. This is known as a monosomy and is represented in disorders like Turner's syndrome, a genetic condition in which a female does not have the usual pair of two X chromosomes, having ONLY one X chromosome. And speaking of sex chromosomes, yet another hereditary birth defect is related to the sex-determining chromosomes, X and Y. Each of these chromosomes is covered with hereditary units known as genes. If an abnormal gene is present on one of a mother's two X chromosomes, the result can be a baby with an X-linked disorder. X-linked disorders almost exclusively affect male babies... and they include problems like color blindness and the blood-clotting disorder hemophilia. The reason female babies rarely get X-linked disorders is because they have a backup X chromosome if something goes wrong with the first. A male, however, doesn't have this extra X "backup," so he will likely inherit the disorder in question. Contributing risk factors to such chromosomal birth defects include: paternal and maternal age, nutritional deficiencies, and certain infections in the mother. Environmental factors can also play a pivotal role. Common environmental teratogens - toxic substances known to adversely affect developing fetuses include: certain recreational drugs, like crack and cocaine, and prescription drugs, like Acutane. PLEASE check with your doctor before continuing any prescription drugs you may be taking once you find out you're pregnant. And if you have a drug or alcohol problem, talk to your healthcare provider, getting help early is critical for the baby's health! For new parents, all of these chromosomal abnormalities can be frightening and hard to understand. So if your baby has a hereditary birth defect, talk to your doctor about treatment options and support groups.More »
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Every year, one in around seven hundred babies born in the United States has Down syndrome. Watch our video for a more extensive look at this condition.
Transcript: According to the U.S. National Down Syndrome Society, currently one in every 733 babies born each year...
According to the U.S. National Down Syndrome Society, currently one in every 733 babies born each year is diagnosed with Down syndrome. Simply put, Down syndrome is a condition caused by an abnormality in a person's chromosomes. When a child is conceived, he receives strands of DNA, or chromosomes, from his parents. A healthy child will get 23 chromosomes from each parent, or 46 chromosomes total. In most cases of Down syndrome, though, a baby receives an extra copy of chromosome number 21 from one of his parents. There are several theories for why this chromosomal anomaly occurs, among them nondisjunction, which accounts for 95% of all Down's cases, translocation, which is thought to account for 4 to 5% of all cases, and mosaicism, which accounts for about 1%. Research has shown that nondisjunction, the most common reason thought to lead to Down Syndrome, is influenced by maternal age. Statistically, a woman at age 25 has a 1 in 1,250 risk of having a baby with Down Syndrome. At age 30, the risk is about 1 in 900, by age 35 it's about 1 in 350, by age 40 it's 1 in 100, and by 45 it's about 1 in 30. Interesting to note, that even though the risk is greater as the mother's age increases, about 80% of babies with Down syndrome are born to women under age 35. This is because younger women have more babies than older women. It is this extra chromosome that causes the physical and mental delays characteristic of Down syndrome. Physically, people with Down syndrome tend to share certain physical features, such as upward slanting eyes, flat facial profiles, a protruding tongue, small stature, low set ears, and a single deep crease across each palm. Every person with Down syndrome is a unique individual and may possess these characteristics to different degrees or not at all. Mentally, children with DS tend to have IQs that fall in the mild to moderate range of mental disability, though it's important to note that there is more to intelligence than what is tested for with IQ tests. Unfortunately, people with this disorder also tend to be at greater risk for OTHER serious medical conditions, like heart defects, which affects 35 - 50% of Down's patients. Children with DS are also more likely to have hearing and vision problems, leukemia, and thyroid conditions. Knowing all this, some parents-to-be decide to test for Down syndrome before their baby's birth. To do so, they can employ screening tests, diagnostic tests, or a combination of both. One of the most common screening tests is known as the nuchal translucency test, or NT. Which is an ultrasound that measures the nuchal fold, which is the clear space in the tissue at the back of a developing baby's neck. Babies with abnormalities tend to accumulate more fluid at the back of their neck during the first trimester, causing this clear space to be larger than average. The NT scan must be done when you're between 11 and 14 weeks pregnant. It's usually offered along with a blood test in what's known as first-trimester combined screening. It's important to understand that these screening tests only measure whether a baby is likely to have DS they do not offer a definitive diagnosis. For this reason, some parents decide to undergo more conclusive diagnostic tests. One diagnostic test is called chorionic villus sampling, or CVS, and involves extracting a small piece of a woman's placenta for testing. Chorionic villus sampling is usually performed between the 10th and 12th weeks of pregnancy. Because CVS is an invasive test, there's a small risk about 1 in 100 that it can induce a miscarriage. Another test, called amniocentesis, involves collecting and testing a sample of the mother's amniotic fluid. It's generally performed between weeks 16 and 18 of a woman's pregnancy. The doctor inserts a hollow needle into the woman's abdomen to remove a small amount of amniotic fluid from around the developing fetus. This fluid contains the baby's chromosomes, and can be tested to check for genetic problems and to determine the sex of the child. Amniocentesis also carries a slight risk of inducing a miscarriage, which ranges from 1 in 200 to 1 in 1,000. For both diagnostic tests, MUCH depends on the skill and experience of the person performing the test, ask what the individual doctor's rate of miscarriage is before consenting to do the test with him or her. After birth, a simple blood test can confirm a diagnosis of Down syndrome, if necessary. While DS can be scary, the life expectancy of people with the disorder is increasing all the time: from 25 in 1983 to 60 today, according to the National Down Syndrome Society. People with DS can often go to school, work, live semi-independently and even get married. The best way to ensure a bright future like this is to get early intervention for your child. One-on-one work with early childhood educators... and speech, occupational, and physical therapists, can ALL help encourage development. Remember: If you are parent to a child with Down syndrome, you are NOT alone some 250,000 Americans have DS! Help your child and help yourself! by becoming as educated about Down syndrome as possible!More »
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It's impossible to protect your baby from everything, but there are some ways you can minimize risks. Learning how to prevent birth defects is a good first step towards a healthy child.
Transcript: Every year in the United States, about 150,000 children are born with birth defects. Could these problems...
Every year in the United States, about 150,000 children are born with birth defects. Could these problems be prevented? Some birth defects stem from unavoidable genetic problems, while almost 60-percent have unknown causes. Despite this, there are measures that you can take both before AND during pregnancy to help prevent birth defects. Before you even conceive, you should begin taking a multi-vitamin with 400 micrograms of folic acid every day, and continue to take folic acid throughout the pregnancy. Folic acid is a B vitamin that helps a baby's neural tube develop properly in the early weeks after conception. The neural tube eventually becomes a baby's brain and spinal cord. Without enough folic acid, neural tube defects like spina bifida can occur. Before you get pregnant, it's also smart to make an appointment with your health care provider. During this meeting, your doctor should test you for sexually transmitted diseases like genital herpes and syphilis. Both of these STDs can cause severe birth defects if transferred to an infant. If the STD tests show you have syphilis, your doctor will give you an antibiotic like penicillin to treat the condition. If you have genital herpes, your doctor will explain that you may need to deliver a baby via c-section. At this pre-pregnancy appointment, your provider will also want to ensure your vaccinations are up to date. Your doctor will be particularly concerned about rubella and chicken pox...both of which can cause serious or even life threatening defects. If there is a risk you could contract either disease, the doctor will suggest getting vaccinated. Of course, most people in the USA have already been vaccinated against these diseases. And if you've ever had either of the viruses before, then you have a natural immunity and don't need the vaccine. If you don't know if you're immune, you can have a blood test to find out. If you need a shot, wait at least one month after the shot before trying to get pregnant. Your provider will look at any medications you are currently taking, including prescription medications, Over-the-counter drugs and herbal medicines, as some of these may be harmful to a fetus, and may necessitate that you stop taking them prior to conception. Before you get pregnant, you may ALSO make a visit to another type of doctor: A genetic counselor. A genetic counselor uses scientific information and your own family history to calculate the statistical risk that you'll give birth to a child with a hereditary birth defect. The people who benefit MOST from genetic counseling are those with a family history of disability... and those in certain high-risk groups, like women over 35. If it appears that you're likely to have a child with a disorder, the counselor will discuss your options, which include genetic testing that will help determine exactly what your risk is. If you DO get pregnant, it's vital that you avoid alcohol, cigarettes, and other illicit drugs. These substances can cause problems ranging from low birth weight to severe mental retardation. To avoid potentially harmful infections like cytomegalovirus and toxoplasmosis... you will want to practice excellent hygiene and to avoid contact with both sick people and your cat's kitty litter. Also be cautious when handling raw meat and eating raw, unpeeled or unwashed vegetables. And take care of your developing baby by taking care of yourself! Get plenty of rest, consume healthy food, exercise daily, and get good prenatal care! But do remember that some birth defects simply aren't preventable. This means that even the most careful, health-conscious parent may deliver a child with a birth defect. If you're pregnant or considering becoming pregnant, talk to your health care provider about birth defect prevention!More »
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Every year more than 7 million children around the world are born with genetic birth defects. Learn more about the role genes play in birth defects by watching this video.
Transcript: From sickle cell anemia to cystic fibrosis, many birth defects are inherited from parent to child via...
From sickle cell anemia to cystic fibrosis, many birth defects are inherited from parent to child via genes. To give you a background understanding of the hereditary building blocks of the human body, we need to discuss genes. Every person has some 20,000 to 25,000 genes that determine traits ranging from eye color, to hair texture, to growth patterns and more! At conception an embryo is given 46 chromosomes. At conception, an embryo is given 46 chromosomes 23 from the mother and 23 from the father. Chromosomes contain genes. Each gene has a specific place on the chromosome. There are dominant and recessive genes that determine how we look and how our bodies function. Understanding how recessive and dominant genes work is necessary to comprehending how gene-based birth defects occur. There are a number of permutations of gene combinations that a child receives from his or her parents. To simplify, if a child is given two dominant genes, like brown eyes, he will demonstrate this trait. Meanwhile, if a child receives two recessive genes, like blue eyes, he will likely demonstrate THAT trait. But what if a child receives one dominant and one recessive gene? In this case, he will most likely display the dominant brown-eyed trait because dominant genes tend to trump recessive ones. But if both parents possess a recessive blue-eyed gene, then even two parents with dark brown eyes can give birth to a blue-eyed child. With this in mind, it's easier to comprehend a dominant inheritance and a recessive one. A child can inherit a genetic birth defect if just one parent passes along a faulty gene. This type of genetic defect is called dominant inheritance. In a dominant inheritance, the parent passing the dominant trait does have the genetic disorder that has been passed to the child. Examples of dominant inheritance include a type of dwarfism called Achondroplasia, and a connective tissue disease called Marfan syndrome, where the patient is abnormally tall and thin with cardiovascular, respiratory and vision problems. Another form of genetic defect occurs when both parents pass the SAME recessive, abnormal gene on to their child. In a recessive inheritance like this, neither parent has to experience the birth defect in order to have passed it on to their child in lungs or inside body, labeled Cystic fibrosis, which is a serious lung disorder that also affects the digestive tract is a recessively inherited disease. Some genetic birth defects are found in specific ethnic-racial groups, for instance, the fatal neurological disorder known as Tay-Sachs disease is of recessive inheritance and is almost exclusively seen in the Eastern European Jewish Community cell. Sickle Cell anemia, another recessive disease, causes red blood cells to be sickle-shaped, rather than the normal doughnut shaped, and thus allows them to get lodged in small blood vessels, causing pain crises, is found primarily in African and Caribbean populations. If you have more questions about genetic birth defects, check out other videos in this series, and of course consult with your child's pediatrician!More »
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Some birth defects show no obvious signs, which is why newborn screenings are important. Screening for birth defects is often standard practice, but it helps to know what experts are looking for. Watch this for details.
Transcript: While some disorders, like Down syndrome, are visible at birth, others show NO outward signs. How do...
While some disorders, like Down syndrome, are visible at birth, others show NO outward signs. How do doctors find these seemingly invisible birth defects? Within 48 hours of a newborn's birth, the baby will be screened for a host of detrimental or potentially fatal disorders. To perform a hearing screen, a doctor first checks the baby's hearing using a small, soft earphone or microphone. Although hearing impairment only affects about 3 in 1,000 babies, this test is vital, because infants with UNTREATED hearing problems often experience delayed language development. The second part of a newborn screen involves collecting a drop of blood from the baby's heel. That tiny blood sample will be tested for anywhere from 10 to 50 defects. How rigorous this testing will be depends on WHERE the child was born. Every U.S. state has different laws regarding newborn screening. But some tests, like the one for phenylketonuria [Say: fen-l-kee-toh-noo r-ee-uh] or PKU, are performed all over the country. Babies with PKU cannot process a component of protein called phenylalanine [Say: fen-l-al-uh-neen], which is found in most foods. Without treatment, phenylalanine builds up in the blood, causing brain damage and mental retardation. Luckily, putting a child on a low-phenylalanine formula can offset these PKU effects. Another nationwide newborn screening looks for a disorder called congenital hypothyroidism. Infants with this disorder do not have sufficient stores of the thyroid hormone and will experience delayed growth and brain development if they are NOT treated with oral thyroid hormones. Congenital hypothyroidism affects up to one in 4,000 babies and is one of the most common disorders detected during newborn screenings. A third imperative screening detects galactosemia, a disorder that can cause mental retardation, blindness, and death in infancy. Galactosemia occurs when a baby can't convert a milk sugar called galactose into a useable sugar called glucose. Treatment for galactosemia involves eliminating all dairy products from a baby's diet. Finally, all U.S. states test for sickle cell disease, an inherited blood disorder that causes red blood cells to mutate. These mutated cells can lead to anemia, severe bouts of pain, damage to internal organs, and even death. Although there is no treatment for sickle cell, vigilant medical care can help reduce these complications. And while there are a number of additional disorders that an initial blood test can detect remember that a doctor will NOT need to screen for obvious problems, like Down syndrome, spina bifida, and dwarfism. If you have questions about your baby's newborn birth defect screening, talk to your doctor before you leave the hospital. And try not to worry too much. The March of Dimes suggests that very few newborns are actually diagnosed with a problem following their screenings!More »
Last Modified: 2013-04-09 | Tags »
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