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Genetic Disorders In Babies

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Last Updated: 20 October 2020

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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. 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.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

What are genes and chromosomes?

Genes are part of cells in your body. They store instructions for way your body grows, looks and works. Your genes make you the way you are. They help control things like your height, curliness of your hair and color of your eyes. You inherit genes from your parents. Sometimes instructions in genes change. This is called gene change or mutation. You can pass gene changes to your children. Sometimes gene changes can cause health conditions, like cystic Fibrosis and sickle cell Disease. Gene changes also cause birth defects, like heart Defects. These are called single gene disorders, and they run in families. A birth defect is a health condition that is present in a baby at birth. Birth Defects change the shape or function of one or more parts of the body. They can cause problems in overall health, in how the body develops or in how the body work. Chromosomes are structures in cells that hold genes. Each person has 23 pairs of chromosomes, or 46 in all. For each pair, you get one chromosome from your mother and one from your father. Just like genes, sometimes chromosomes change. There may be too many or too few chromosomes, or part of chromosome may be missing. These changes can cause chromosomal conditions in baby. One of the most common chromosomal conditions is Down Syndrome. Parents can pass chromosome changes to their children, or they can happen on their own as cells develop. Any condition related to genes or chromosomes can be called a genetic condition.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

What causes chromosomal conditions?

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 children with aneuploidy increases as women age. 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.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Coronavirus Updates

Use of gene editing in human embryos could one day prevent some serious genetic disorders from being passed from parents to their children. But, for now, technique is too risky to be used in embryos destined for implantation, say high - profile international commission. And even when technology is mature, commission say, its use should initially be permitted in only a narrow set of circumstances. The Recommendations, released on 3 September, come from a panel of experts convened by the US National Academy of Medicine, US National Academy of Sciences and the UK Royal Society. Panels report review the scientific and technical state of heritable gene editing, rather than ethical questions. It joins a wealth of reports that have argued against using gene editing in clinics until researchers can address safety worries. The commission was formed after Chinese biophysicist He Jiankui shocked the world in 2018 by announcing that he had edited human embryos that were then implanted in Women wombs, in an effort to make resulting children resistant to HIV. Work led to the birth of two children with edited genomes, but was condemned by scientists. He and two of his colleagues received prison sentences.


Symptoms and Severity of COVID-19 in Children

While children infected with SARS - CoV - 2 are less likely to develop severe illness compared with adults, children are still at risk of developing severe illness and complications from COVID - 19. Recent COVID - 19 hospitalization surveillance data shows that the rate of hospitalization among children is low compared with that of adults, but hospitalization rates in children are increasing. 5 While children have lower rates of mechanical ventilation and death than adults, 1 in 3 children hospitalized with COVID - 19 in the United States were admitted to the intensive care unit, which is the same in adults. 5 current evidence suggests that children with certain underlying medical conditions and infants might be at increased risk for severe illness from SARS - CoV - 2 infection. 10 11 14 Of children who have developed severe illness from COVID - 19, most have had underlying medical conditions. 5 there is limited evidence about which underlying medical conditions in children might increase the risk of severe illness. Current evidence suggests that children with medical complexity, with genetic, neurologic, metabolic conditions, or with congenital heart disease might be at increased risk for severe illness from COVID - 19. Similar to adults, children with obesity, diabetes, asthma and chronic lung disease, sickle cell disease, or immunosuppression might also be at increased risk for severe illness from COVID - 19. While healthcare providers should maintain a high index of suspicion for SARS - CoV - 2 infection in these populations and monitor progression of illness closely, it appears that most infants 18 and children with certain underlying conditions such as cancer 19 who are infected with SARS - CoV - 2 do not usually develop severe illness. Hospitalization rates in the United States are higher among Hispanic / Latino children and black, non - Hispanic children and non - Hispanic black children compared with white children, which may be related to higher rates of obesity and other underlying conditions among these populations. 5 similar to adults, Children with severe COVID - 19 may develop respiratory failure, myocarditis, shock, acute renal failure, coagulopathy, and multi - organ system failure. Some children with COVID - 19 have developed other serious problems like intussusception or diabetic ketoacidosis. 10 14 20 21 children infected with SARS - CoV - 2 are also at risk for developing multisystem inflammatory syndrome in children. 22 For case definition, recommended evaluation, and current data on MIS - C cases in the United States, visit MIS - C Information For Healthcare Providers.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Diagnosing a heart condition

Duke's pediatric cardiologists and cardiovascular geneticists diagnose and treat inherited heart diseases, like certain arrhythmias, Cardiomyopathies, Heart Malformations, and other conditions that can cause sudden cardiac death. We work closely with medical geneticists and genetic counselors to provide individualized evaluation, genetic testing, and guidance for children with genetic heart diseases and their families. Using advanced methods, we personalize the entire process so that you can make informed health care decisions for your child, his or her siblings, and the rest of your family. Expert Care Is Crucial If someone in your family has a genetic heart condition or has experienced sudden cardiac death, it is important to test relatives early in life to help identify if any family members are at risk. In cases where there is NO known family history, your children's pediatrician or pediatric cardiologist may detect Genetic Heart Disease upon hearing heart murmur or irregular heartbeat or learning your child has experienced unexplained fainting, dizziness, heart palpitations, trouble breathing, chest pain, or weight loss. True Genetic Heart Disease is rare and can be challenging to diagnose, so it is important to be evaluated by a true expert. Because genetic heart conditions sometimes affect more than one person in the family, it is vital that your child get the right testing and that team of experts help your family understand and act on test results. At Duke, we offer highly specialized Genetic Testing to identify a range of inherited heart disorders, including: arrhythmias: Long QT Syndrome, short QT Syndrome, Brugada Syndrome, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation Cardiomyopathies: hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, leave ventricular non - compaction, dilate cardiomyopathy, and restrictive cardiomyopathy Connective tissue disorders: Loeys - Dietz and Marfan syndromes Malformations of Heart and other congenital Heart defects: hypoplastic leave Heart Syndrome, tricuspid atresia, atrial or ventricular septal defects, and more why Choose Duke Our team of pediatric cardiologists, Genetic counselors, Heart surgeons, electrophysiologists, and others work together to Identify and manage Your childs Heart health. At Duke, youll have access to various specialists and subspecialists, all working toward the same goal of keeping your child healthy. Our dedicated nurse navigator helps you manage your children's evaluation and treatment journey, including scheduling appointments, setting up physician referrals, answering questions, and being the main point of contact for your children's care team. Our specialized pediatric cardiologists collect thorough medical and family history, perform physical exam,s and order testing that may include: electrocardiogram electrodes are placed on your childs chest to record the heart's electrical function. This test is quick and painless. Ct and MRI Screenings Machines capture images of your childs overall heart structure, heart muscle function, and blood vessels. These tests usually take at least 30 minutes and are also painless. Stress Test Your child will exercise on a treadmill while his or her heart function is recorded with electrocardiography and blood pressure monitoring. Event Monitoring Your child will be fit with a 24 - hour wearable heart monitor that will record heart activity and abnormalities over the course of day.


Symptoms

Symptoms of Congenital Heart defect depend on type of heart defect and childs age. Although a baby is born with a congenital heart defect, symptoms do not always appear immediately. In some children, symptoms that appear during infancy or even later may be the first sign of a problem. Newborns with Congenital Heart defect may have symptoms such as irritability or inconsolable crying, rapid breathing, excessive sweating, and difficulty feeding and gaining weight. Symptoms in babies occur when blood does not receive enough oxygen or the heart cannot pump efficiently. Symptoms often include: cyanosis, in which skin appears bluish; fluid retention in the chest; heart murmur, which doctors can hear with a stethoscope; or absent or rapid pulse. Decrease blood flow to arms and legs may make babys skin abnormally pale and cool. In older children and adolescents, congenital heart defects may affect growth and development and produce weakness, fatigue, and shortness of breath during normal activities and exercise. Specialists at Pediatric Congenital Heart Program, part of Hassenfeld Childrens Hospital at NYU Langone, may diagnose congenital heart defects before birth, shortly after birth, or during childhood. They do so in collaboration with maternal - fetal medicine specialists and pediatricians.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

What Are Birth Defects?

Most birth defects are caused by genetic or environmental factors or a combination of two. In most cases, however, cause is unknown. Chromosomal defects - caused by too few or too many chromosomes, or problems in the structure of chromosomes, such as Down syndrome and extra copy of chromosome 21 and sex chromosome abnormalities. Single gene defects - mutation in one gene causes defect dominant inheritance - when one parent passes along single faulty gene, such as achondroplasia and Marfan syndrome recessive inheritance - when both parents, who do not have disease, pass along gene for disease to child, such as cystic fibrosis and Tay Sachs environmental cause can include drug, alcohol or disease mother has that can increase chance for baby to Be born with birth defect. Agent that can cause birth defects is known as teratogen. Multifactorial birth defects are caused by a combination of genes and environmental exposures. In other words, person can inherit genes that increase sensitivity to environmental trigger. Examples include cleft lip or palate, certain heart defects, and neural tube defects.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Can Birth Defects Be Prevented?

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 your doctor about medicines they are taking If there's family history of birth defects or a woman is part of a 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.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

INTRODUCTION

Genes are building blocks of heredity. They are passed from parent to child. They hold DNA, instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs. Sometimes there is mutation, change in genes or genes. Mutations change gene's instructions for making protein, so protein does not work properly or is missing entirely. This can cause a medical condition called genetic disorder. You can inherit gene mutation from one or both parents. Mutations can also happen during your lifetime. Single - gene disorders, where mutations affect one gene. Sickle cell anemia is an example. Chromosomal disorders, where chromosomes are missing or change. Chromosomes are structure that hold our genes. Down syndrome is a chromosomal disorder. Complex disorders, where there are mutations in two or more genes. Often, your lifestyle and environment also play a role. Colon cancer is an example. Genetic tests on blood and other tissue can identify genetic disorders.


What is a genetic disorder?

Expanding abilities: Developing gradually broadening range of skill areas. Social stories: Providing ideas and education around social story development. School transition: Advocating and professionally supporting transition to school and liaising with teachers, as require. Visual cues can be used to support routine and to introduce new activities, or changes in tasks. Gross and fine motor skills: Determining current age level of childs gross and fine motor abilities. Devising goals: Setting functional and achievable goals in collaboration with children's parents and teachers so that therapy has a common focus beneficial to everyone involve. Educating parents, carers, teachers and others involved in children's care about children's genetic disorders and age - appropriate skills children should demonstrating. Direct skill teaching through task base approach. Management strategies: Providing management strategies / ideas to assist children at home, at school and in the community. Task engagement: Providing alternative ways to encourage task engagement. Developing underlying skills necessary to support whole body and hand dexterity skills, such as providing activities to support: balance and coordination, strength and endurance, attention and alertness, body awareness, movement planning

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Risk Factors for Genetic Disorders

Genetic issues are too important to be ignored during preconception care since they can have quite profound implications for women's future pregnancies. Important recommend intervention is complete family history assessment, either through self - assessment tool that is reviewed by a physician, or through questionnaire administered by a healthcare provider. The utility and success of family history tools in assessing risk are well established in other medical areas and should be similarly effective in genetic assessment of risk as part of preconception care. Genetic counseling information should be provided regarding baseline population genetic risk to pregnancy, as well as additional risks revealed by family history, ethnic background, and, if applicable, advanced maternal and / or paternal ages. Appropriate carrier testing should be offer, with understanding that negative carrier test result, in case of some DNA - base tests, do not exclude the possibility that the individual test is carrier. Women with an increased risk of having an infant with a birth defect or genetic condition should be referred to a clinical genetics provider for further counseling and information about pregnancy options. Finally, women who themselves have genetic condition should receive appropriate preconception and prenatal care, education, and medical counseling to avoid morbidity and mortality for themselves and their future pregnancies.


What are genetic abnormalities?

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.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Sources

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

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