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Every year, estimate 7. 9 million infants are born with serious birth defects. Although some congenital defects can be controlled and treat, estimate 3. 2 million of these children are disabled for life. Moreover, birth defects are the leading cause of infant mortality in the United States. But where do these defects come from? Although some birth defects are inherit, others are product of harmful environmental factors know as teratogens, and still others are multifactorial, resulting from complex interaction of genetic and environmental influences. However, in approximately half of all birth defect cases, causes are unknown. Genetic causes of birth defects fall into three general categories: chromosomal abnormalities, single - gene defects, and multifactorial influences. Prenatal environment can play a major role in development of defects in all three categories, especially those linked to multifactorial causes. A person's genetic makeup is determined at conception. It is then, during nuclear events of fertilization, that genetic causes of many birth defects are determine. For example, chromosomal abnormalities, or large - scale duplications or deletions of chromosomal segments or entire chromosomes, can become apparent during this period. Many zygotes that carry such abnormalities do not develop into embryos, but among those that are carried to term, trisomy 21, trisomy 13, and trisomy 18 are the most frequent birth defects. Embryos with these three conditions will develop severe disabilities regardless of environmental factors associated with pregnancy. Unlike Down syndrome patients, who usually have relatively long life span, children with Patau and Edwards syndromes often die soon after birth. Individuals diagnosed with Patau syndrome suffer from neurological problems, mental and motor deficiencies, and polydactyly, as well as eye, heart, and spine defects. Those born with Edwards syndrome suffer mental retardation, breathing and feeding difficulties, delayed growth, and malformations of kidneys, intestines, and heart. Thankfully, both of these devastating syndromes are rare. Down syndrome, on the other hand, is by far the most common chromosomal abnormality, affecting 1 in 800 babies. The risk of having child with this condition increases with maternal age, rising exponentially after woman reaches age 35. For instance, in young mothers, frequency of trisomy 21 is about 1 in 2 000, but this frequency rises to 1 in 100 when a woman is 40 and to 1 in 12 when she is 50 years old. People who have Down syndrome suffer from moderate to severe mental retardation and a wide variety of health problems, including heart defects, leukemia, and Alzheimer's disease. The severity of these defects varies widely, however, and the majority of people with Down syndrome live semi - independent lives, with an average life expectancy of 56 in the United States. Aneuploidies such as Down syndrome can generally be detected by the presence of additional chromosomes or chromosome translocations in karyotype or FISH profile. As opposed to chromosomal abnormalities, single - gene defects are usually inherit. For example, phenylketonuria is a heritable condition caused by malfunction of the PAH enzyme that breaks down amino acid phenylalanine.
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Chromosomes are structures inside cells that carry genes. Chromosomes also come in pairs. Most cells have 23 pairs of chromosomes for a total of 46 chromosomes. Sperm and egg cells each have 23 chromosomes. During fertilization, when egg and sperm join, two sets of chromosomes come together. In this way, one half of babys genes come from the babys mother and one half comes from the babys father. Having missing or extra chromosomes is a condition called aneuploidy. The risk of having child with aneuploidy increases as a woman ages. Trisomy is the most common aneuploidy. In trisomy, there are extra chromosome.S common trisomy is trisomy 21. Other trisomies include trisomy 13 and trisomy 18. Monosomy is another type of aneuploidy in which there is a missing chromosome. A common monosomy is Turner Syndrome, in which female has a missing or damaged X chromosome. Carrier of Recessive Disorder is a person who carries one copy of gene that works incorrectly and one that works normally. Carriers may not have symptoms of disorder or may have only mild symptoms. If both parents are carriers of abnormal gene,sss there is a 25% chance that child will get abnormal gene from each parent and will have a disorder. There is a 50% chance that a child will be carrier of disorderjust like carrier parents. If only one parent is the carrier, there is a 50% chance that child will be the carrier of disorder. Most babies with Birth Defects are born to couples without risk factors. However, risk of Birth Defects is higher when certain factors are present. Screening for Birth Defects begins by assessing your risk factors, such as whether you have genetic disorder, whether you have child with genetic disorder, or whether there is a family history of genetic disorder. Some genetic disorders are more common in certain ethnic groups. Screening tests are often part of routine prenatal care and are done at different times during the first and second trimesters of pregnancy. Screening tests include blood tests that measure the level of certain substances in mothers blood combined with an ultrasound exam. These tests assess the risk that a baby will have Down Syndrome and other trisomies, as well as neural Tube Defects. Prenatal Screening Tests are discussed in detail in FAQ165 Prenatal Genetic Screening Tests. Whether you want to be tested is a personal choice. Some couples would rather not know if they are at risk or whether their child will have a disorder, but others want to know in advance. Knowing beforehand gives you time to prepare for having a child with a particular disorder and to organize medical care that your child may need. You also may have the option of not continuing the pregnancy.
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Many birth defects are diagnosed even before the baby is born through prenatal tests. Prenatal tests also can help determine if the mother has an infection or other condition that is dangerous for the fetus. Knowing about baby's health problems ahead of time can help parents and doctors plan for the future. It's important to remember that screening identifies only possibility that baby has a defect. Some women give birth to healthy babies after a screening test shows that defect may be present. If you re pregnant, talk to your doctor about any tests he or she thinks you should have. Other birth defects are found during routine newborn screenings. With parents ' permission, babies are tested after birth to screen for certain birth defects that need to be treat. In the US, exactly what a baby is tested for varies from state to state, although all states screen for phenylketonuria, congenital hypothyroidism, sickle cell disease, and about 30 other conditions. Parents should ask health care providers or hospital nursery which test their state do. Parents who have concerns about another specific birth defect might be able to have their baby tested for it. They should talk to their health care provider about it before the baby is born.
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Many birth defects can't be prevent, but women can do some things before and during pregnancy to help lower the chances of having a baby with a birth defect. Make sure their vaccinations are up to date, make sure they don't have any sexually transmitted diseases, get daily recommended dose of Folic Acid before trying to conceive, avoid unnecessary medicines and talk to their doctor about medicines they are taking if there's family history of birth defects or woman is part of High - risk group, she should consider meeting with genetic counselor to determine her baby's risk. During pregnancy, it's important to take prenatal vitamins and eat a healthy diet in addition to taking the following precautions: don't smoke and avoid secondhand smoke, don't drink alcohol, avoid all illicit drugs, get exercise and plenty of rest, get early and regular prenatal care. By following these pregnancy precautions, women can help reduce their babies ' risk of birth defects.
Since Newborn Screening is a state - operated program, each state differs slightly in which diseases are included in Newborn Screening Programs depending on disease prevalence, detectability, treatment availability, outcome, and overall cost effectiveness. Typically, each state has an advisory committee that reviews and selects which diseases are screened for based on current scientific and clinical data. Increasingly, tandem mass spectrometry is being used for Newborn Screening of up to 50 additional metabolic disorders from dry blood - spot specimens. A recent report commissioned by the US Health Resources and Services Administration recommends uniform screening for 29 genetic diseases. Efforts are underway to examine the feasibility of instituting uniform Newborn Screening policies. Since 1980, mission of the District of Columbia Newborn Screening Program is to detect, diagnose, and treat every newborn baby who tests positive for certain inherited genetic disorders. This program could mean the difference between life and death for Newborn. It can also prevent life - threatening complications and serious chronic consequences such as mental retardation, developmental disability, liver disease, blindness, neurological degeneration, malnutrition, and death. The vision of the Newborn Metabolic Screening Program in the District of Columbia is that all newborns are screened for metabolic disorders prior to hospital discharge. The Program purpose is to require all hospitals in the District of Columbia to screen for 40 inherited genetic disorders that are treatable by diet, vitamins and / or medication, or by anticipatory measures to prevent attacks. The overall goal of the program is to ensure that every infant born in the District is screened for 40 inherited genetic disorders and that infants identified with abnormal screening results receive timely and appropriate follow - up, to treat inherited diseases before onset of clinical symptoms. Final rulemaking to amend DC Law 3 - 65 was published and made effective on November 4 2005. The Amendment expands the current panel of Newborn Screening disorders in the District of Columbia from seven to 40 disorders. The expanded panel includes screens for inherited hemoglobinopathies and 39 metabolic disorders. Every infant born in District of Columbia hospital and birthing center will be screened for following disorders. See consumer fact sheet on Newborn Screening for a brief description of diseases. 1. 2 4 - Dienoyl - CoA reductase deficiency 2. 2 - Methylbutryl - CoA dehydrogenase deficiency 3. 3 - Methylcrotonyl - CoA carboxylase deficiency 4. 3 - Methylglutaconyl - CoA hydratase deficiency 5. 3 - OH 3 - CH3 glutaric aciduria or 3 - hydroxy - 3methylglutaryl - CoA lyase deficiency 1. 6. 5 - Oxoprolinuria 7. Argininemia 8. Argininosuccinic acidemia 9. Beta - Ketothiolase deficiency 10. Biotinidase deficiency 11. Carbamoylphosphate synthetase deficiency 12. Carnitine uptake defect 13. Citrullinemia 14. Congenital adrenal hyperplasia 15. Congenital hypothyroidism 16. Cystic fibrosis 17. Galactosemia 18. Glucose - 6Phosphate dehydrogenase deficiency 19. Glutaric acidemia type I 20. Hemoglobinopathy 21. Homocystinuria 22. Hyperammonemia, hyperornithinemia, homocitrullinemia syndrome 23. Hyperornithine with gyrate deficiency 24. Isobutyryl - CoA dehydrogenase deficiency 25. Isovaleric acidemia 26. Long - chain L - 3OH acyl - CoA dehydrogenase deficiency 27. Malonic aciduria 28. Maple syrup urine disease 29. Medium chain acyl - CoA dehydrogenase deficiency 30. Methylmalonic acidemia 31. Multiple acyl - CoA dehydrogenase deficiency 32. Multiple carboxylase deficiency 33. Neonatal carnitine palmitoyl transferase deficiency - type II 34. Phenylketonuria 35. Propionic acidemia 36. Short chain acyl - CoA dehydrogenase deficiency 37. Short chain hydroxy acyl - CoA dehydrogenase deficiency 38.
In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry codes responsible for all of our inherited traits and are grouped along rod - like structures called chromosomes. Typically, nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down Syndrome occurs when an individual has a full or partial extra copy of chromosome 21. This additional genetic material alters the course of development and causes characteristics associated with Down Syndrome. A few of common physical traits of Down Syndrome are low muscle tone, small stature, upward slant to eyes, and single deep crease across the center of the palm - although each person with Down Syndrome is a unique individual and may possess these characteristics to different degrees, or not at all. For centuries, people with Down Syndrome have been alluded to in art, literature and science. It wasnt until late nineteenth century, however, that John Langdon Down, English physician, published an accurate description of a person with Down Syndrome. It was this scholarly work, published in 1866, that earned Down recognition as father of Syndrome. Although other people had previously recognized characteristics of the syndrome, it was Down who described the condition as a distinct and separate entity. In recent history, advances in medicine and science have enabled researchers to investigate characteristics of people with Down Syndrome. In 1959, French physician Jerome Lejeune identified Down Syndrome as a chromosomal condition. Instead of the usual 46 chromosomes present in each cell, Lejeune observed 47 in cells of individuals with Down Syndrome. It was later determined that extra partial or whole copy of chromosome 21 resulted in characteristics associated with Down Syndrome. In the year 2000, international team of scientists successfully identified and catalogued each of approximately 329 genes on chromosome 21. This accomplishment opens the door to great advances in Down Syndrome research. Down Syndrome is usually caused by error in cell division called nondisjunction. Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, pair of 21 chromosomes in either sperm or egg fails to separate. As embryo develops, extra chromosomes are replicated in every cell of the body. This type of Down Syndrome, which accounts for 95% of cases, is called Trisomy 21. Mosaicism is diagnosed when there is a mixture of two types of cells, some containing usual 46 chromosomes and some containing 47. Those cells with 47 chromosomes contain extra chromosome 21. Mosaicism is the least common form of Down Syndrome and accounts for only about 1% of all cases of Down Syndrome. Research has indicated that individuals with mosaic Down Syndrome may have fewer characteristics of Down Syndrome than those with other types of Down Syndrome. However, broad generalizations are not possible due to the wide range of abilities people with Down Syndrome possess.
Most of time, Down syndrome isn't inherit. It's caused by mistake in cell division during early development of the fetus. Translocation Down syndrome can be passed from parent to child. However, only about 3 to 4 percent of children with Down syndrome have translocation and only some of them inherit it from one of their parents. When balanced translocations are inherit, mother or father has some rearranged genetic material from chromosome 21 on another chromosome, but no extra genetic material. This means he or she has no signs or symptoms of Down syndrome, but can pass unbalanced translocation on to children, causing Down syndrome in children.
Tests to confirm Down Syndrome are often done before a baby is born through amniocentesis or chorionic villus sampling. For amniocentesis, needle is inserted through the mother abdominal wall into the amniotic sac and a small sample of amniotic fluid is drawn out and tested in the laboratory. If your child was not prenatally diagnosed with Down Syndrome, diagnosis usually begins at birth based on your childs physical appearance. Doctors will ask you for a thorough family medical history, do a physical exam of your child, and analyze your child's chromosomes. Once a diagnosis is make, additional testing may be in order to help clinicians better understand how Down Syndrome may affect your child and help spot any early complications from the disorder. Genetic testing, in which a sample of your childs saliva is used to identify your childs DNA. Blood tests, which can help determine drug usage and effectiveness, biochemical diseases and organ function. X - rays, which produce images of bones. Magnetic resonance imaging, which uses a combination of large magnets, radiofrequencies and computers to produce detailed images of organs and structures within the body. Compute tomography scan, which uses a combination of X - rays and computer technology to produce cross - sectional images of the body. Eos imaging, imaging technology that creates 3 - dimensional models from two planar images. Unlike CT scan, EOS images are taken while the child is in an upright or standing position, enabling improved diagnosis for some conditions due to weight - bearing positioning.
Thalassemia is actually a group of inherited diseases of blood that affect a person's ability to produce Hemoglobin, resulting in Anemia. Hemoglobin is a protein in red blood cells that carries oxygen and nutrients to cells in the body. About 100 000 babies worldwide are born with severe forms of Thalassemia each year. Thalassemia occurs most frequently in people of Italian, Greek, Middle Eastern, Southern Asian and African Ancestry. The two main types of Thalassemia are called alpha and Beta, depending on which part of the oxygen - carrying protein in red blood cells is lacking. Both types of Thalassemia are inherited in the same manner. Disease is passed to children by parents who carry mutated Thalassemia gene. A child who inherits one mutated gene is a carrier, which is sometimes called Thalassemia trait. Most carriers lead completely normal, healthy lives. Childs who inherit two Thalassemia trait genes - one from each parent - will have the disease. A child of two carriers has a 25 percent chance of receiving two trait genes and developing disease, and a 50 percent chance of being a Thalassemia trait carrier. Most individuals with alpha Thalassemia have milder forms of disease, with varying degrees of anemia. The most severe form of alpha Thalassemia, which affects mainly individuals of Southeast Asian, Chinese and Filipino Ancestry, results in fetal or newborn death. A child who inherits two copies of the mutated gene for Beta Thalassemia will have Beta Thalassemia disease. Childs can have a mild form of the disease, known as Thalassemia intermedia, which causes milder Anemia that rarely requires transfusions. The more severe form of disease is Thalassemia major, also called Cooley's Anemia. It is a serious disease that requires regular blood transfusions and extensive medical care. Those with Thalassemia major usually show symptoms within the first two years of life. They become pale and listless and have poor appetites. They grow slowly and often develop jaundice. Without treatment, spleen, liver and heart soon become greatly enlarged. Bones become thin and brittle. Heart failure and infection are leading causes of death among children with untreated Thalassemia major. Use of frequent blood transfusions and antibiotics has improved the outlook for children with Thalassemia major. Frequent transfusions keep their hemoglobin levels near normal and prevent many complications of disease. But repeat blood transfusions lead to iron overload - a buildup of iron in the body - that can damage the heart, liver and other organs. Drugs known as iron chelators can help rid the body of excess iron, preventing or delaying problems related to iron overload. Thalassemia has been cured using bone marrow transplants. However, this treatment is possible only for a small minority of patients who have suitable bone marrow donor. Transplant procedure itself is still risky and can result in death. Scientists are working to develop gene therapy that may offer a cure for Thalassemia.
Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. If you inherit: one mutated gene, you 'll have no signs or symptoms of thalassemia. But you are the carrier of the disease and can pass it on to your children. Two mutated genes, your thalassemia signs and symptoms will be mild. This condition might be called the alpha - thalassemia trait. Three mutated genes, your signs and symptoms will be moderate to severe. Inheriting four mutated genes is rare and usually results in stillbirth. Babies born with this condition often die shortly after birth or require lifelong transfusion therapy. In rare cases, children born with this condition can be treated with transfusions and stem cell transplant.
Tay - Sachs Disease is a fatal genetic disorder, most commonly occurring in children, that results in progressive destruction of the nervous system. Tay - Sachs is caused by absence of a vital enzyme called hexosaminidase -. Without Hex -, fatty substance,ss or lipid,s called GM2 ganglioside accumulate abnormally in cells, especially in nerve cells of the brain. This ongoing accumulation causes progressive damage to cells. In children, destructive process begins in the fetus early in pregnancy. However, babies with Tay - Sachs Disease appear normal until about six months of age when its development slows. By about two years of age, most children experience recurrent seizures and diminishing mental function. The infant gradually regresses, and is eventually unable to crawl, turn over, sit or reach out. Eventually, child becomes blind, cognitively impaired, paralyzed and non - responsive. By time child with Tay - Sachs is three or four years old, nervous system is so badly affected that death usually results by age five. Much rarer form of Tay - Sachs, Late - Onset Tay - Sachs Disease, affects adults and causes neurological and intellectual impairment. Only recently identify, disease has not been extensively describe. As for the childhood form of Tay - Sachs, there is no cure. Treatment involves managing symptoms of disease. Tay - Sachs Disease results from defects in a gene on chromosome 15 that code for production of enzyme Hex -. We all have two copies of this gene. If either or both Hex - genes are active, body produces enough enzyme to prevent abnormal build - up of GM2 ganglioside lipid. Carriers of Tay - Sachs - people who have one copy of inactive gene along with one copy of active gene - are healthy. They do not have Tay - Sachs Disease but they may pass on faulty genes to their children. Carriers have a 50 percent chance of passing on defective gene to their children. A child who inherits one inactive gene is a Tay - Sachs carrier like a parent. If both parents are carriers and their child inherits defective Hex - gene from each of them, child will have Tay - Sachs Disease. When both parents are carriers of defective Tay - Sachs gene, each child has a 25 percent chance of having Tay - Sachs Disease and a 50 percent chance of being a carrier. Eastern European Jews at Greater Risk for Tay - Sachs Disease: while anyone can be a carrier of Tay - Sachs, incidence of disease is significantly higher among people of Eastern European Jewish descent. Approximately one in every 27 Jews in the United States is a carrier of the Tay - Sachs Disease gene. Non - Jewish French Canadians living nearby The Lawrence River and the Cajun community of Louisiana also have a higher incidence of Tay - Sachs. For the general population, about one in 250 people are carriers. There is no cure or effective treatment for Tay - Sachs Disease. However, researchers are pursuing several approaches to finding a cure. Scientists are exploring enzyme replacement therapy to provide Hex - that is lacking in babies with Tay - Sachs.
Sickle Cell Disease is the most common inherited blood disorder in the United States. Approximately 100 000 Americans have the disease. In the United States, Sickle Cell Disease is most prevalent among African Americans. About one in 12 African Americans and about one in 100 Hispanic Americans carry Sickle Cell trait, which means they are carriers of disease. Sickle Cell Disease is caused by mutation in the hemoglobin - Beta gene found on chromosome 11. Hemoglobin transports oxygen from the lungs to other parts of the body. Red blood cells with normal hemoglobin are smooth and round and glide through blood vessels. In people with Sickle Cell Disease, abnormal hemoglobin molecules - hemoglobin S - stick to one another and form long, rod - like structures. These structures cause red blood cells to become stiff, assuming a Sickle shape. Their shape causes these red blood cells to pile up, causing blockages and damaging vital organs and tissue. Sickle cells are destroyed rapidly in the bodies of people with disease, causing anemia. This anemia is what gives the disease its commonly known name - Sickle Cell Anemia. Sickle cells also block the flow of blood through vessels, resulting in lung tissue damage that causes acute chest syndrome, pain episodes, stroke and priapism. It also causes damage to the spleen, kidneys and liver. Damage to spleen makes patients - especially young children - easily overwhelmed by bacterial infections. A baby born with Sickle Cell Disease inherits genes for disorder from both parents. When both parents have a genetic defect, there's 25 percent chance that each child will be born with Sickle Cell Disease. If a child inherits only one copy of the defective gene, there is a 50 percent chance that child will carry the Sickle Cell trait. People who only carry Sickle Cell trait typically don't get disease, but can pass defective gene on to their children. Until recently, people with Sickle Cell Disease were not expected to survive childhood. But today, due to preventive drug treatment, improved medical care and aggressive research, half of Sickle Cell patients live beyond 50 years. Treatments for Sickle Cell include antibiotics, pain management and blood transfusions. The new drug treatment, Hydroxyurea, which is an anti - tumor drug, appears to stimulate production of fetal hemoglobin, type of hemoglobin usually found only in newborns. Fetal hemoglobin helps prevent sickling of red blood cells. Patients treated with Hydroxyurea also have fewer attacks of acute chest syndrome and need fewer blood transfusions. Currently, only cure for Sickle Cell Disease is bone marrow transplantation. In this procedure, sick patient is transplanted with bone marrow from healthy, genetically compatible sibling donors. However, only about 18 percent of children with Sickle Cell Disease have healthy, match sibling donor. Bone marrow transplantation is a risky procedure with many complications. Researchers are experimenting with attempts to cure Sickle Cell Disease by correcting a defective gene and inserting it into the bone marrow of those with Sickle Cell to stimulate production of normal hemoglobin. Recent experiments show promise.
All babies have newborn screening test for SCD. Newborn screening checks for serious but rare and mostly treatable conditions at birth. It includes blood, hearing and heart screening. With newborn screening, SCD can be found and treated early. Before your baby leaves hospital, his health care provider takes a few drops of blood from his heel. Blood is collected and dried on special paper and sent to the lab for testing. The Lab then sends the results back to your babys provider. If newborn screening results are normal, it simply means your baby needs more testing. Your babys provider can recommend another kind of test, called a diagnostic test. This test can check to see if your baby has SCD or if there is some other cause for abnormal test results.
Sickle cell disease is a genetic condition. People who have it inherited certain hemoglobin genes from their parents. Hemoglobin is protein inside of red blood cells that carry oxygen. Abnormal hemoglobin makes red blood cells sickle shape. Someone who inherits sickle cell genes from each parent has sickle cell disease. Someone who inherits sickle cell gene from one parent and normal hemoglobin gene from other has sickle cell trait rather than sickle cell disease. Most people with sickle cell trait don't have symptoms, but can pass gene to their children. Someone who inherits sickle cell gene from one parent and another kind of abnormal gene from other parent may have a different form of sickle cell disease, such as hemoglobin SC disease or sickle beta thalassemia.
In order to optimize the chance of healthy pregnancy and baby, women's risk factors relating to a variety of health issues are generally examine, allowing for required modifications during preconception care. This activity can help prevent some birth defects and some adverse birth outcomes, such as prematurity. In contrast, genetic factors result in conditions often perceived to be rare, and thus, most women without family history of birth defects or genetic conditions do not consider themselves at risk. Regardless, full range of genetic issues should always be considered preconceptionally to improve the chance for healthy birth outcome. Preconception care involves genetics in two distinct manners: 1 assessment of risk factors for having child with genetic disorder and providing information about preconception and prenatal testing, as well as reproductive options to minimize the chance of having genetic problems in future children; and 2 care of women with genetic disorders preconceptionally and during pregnancy. Very few studies have evaluated the extent of genetic issues that are currently addrest in preconceptional care venues since genetic concerns often do not become important to woman and / or her healthcare providers until she is pregnant. The most comprehensive examination of reproductive health occurs in the Hungarian periconceptual health care service, which has 20 years of experience in protecting the health of potential mothers through pregnancy, reducing occurrence of unsuccessful pregnancy outcomes including birth defects and genetic diseases, and promoting birth of healthy infants. Through this service, couples undergo comprehensive health screening, family history assessment, referral for carrier screening for cystic fibrosis, and predictive genetic testing based on family history, when appropriate. Unlike Hungarian experience, there has not been a concert approach toward genetic risk assessment during the preconception period in the United States because the first visit for medical care is usually antenatal visit at 6 - 12 weeks of gestation. Therefore, standards need to be developed for incorporation of genetic risk assessments and counseling into preconception care program.S Preconception genetic care should focus on providing understanding of risk - specifically, assessing risks and communicating appropriate information via non - directive counseling about birth defects and genetic disorders that may occur during pregnancy. All couples have baseline population risk of having an infant with a major birth defect or genetic problem. This empirical risk is 2 - 5%, and is based on population data. This conglomerate risk for any of full spectrum of birth defects, Chromosomal abnormalities, and single gene disorders does not take into account individualized risks for women's future pregnancy, such as those based on familial factors, ethnic background, and parental age, all of which may increase risk to one above population risk. Give reality of general and specific risks for each woman, thorough individualized risk assessment and provision of appropriate genetic counseling information are necessary for couple to understand their genetic risks for pregnancy.
Before you conceive, you should talk to your doctor about steps you can take to help you have a healthy baby. Men and women can avoid exposure to harmful substances, such as ionizing radiation, alcohol, drugs, and certain chemicals. Preconception genetic testing can help you determine whether youre at higher risk of having a baby with a hereditable genetic condition. If tests show you are at higher risk, you can use contraception to avoid pregnancy, have spontaneous conception and use genetic testing during pregnancy to identify the affected baby, consider assist reproductive technologies with egg or sperm donor,s or choose in vitro fertilization and test embryos for specific genetic disorders before implantation. However, no matter what steps are taking, there is always the possibility that genetic abnormalities may occur. Anytime there is a pregnancy, there is at least 3% risk of having a child with some sort of birth defect, mental impairment or genetic abnormality.
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