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Birth Genetic Disorders

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Last Updated: 21 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 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.

* 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?

The DNA molecule is a long, coiled double helix that resembles a spiral staircase. In it, two strands, composed of sugar and phosphate molecules, are connected by pairs of four molecules called bases, which form steps of staircase. In steps, adenine is paired with thymine and guanine is paired with cytosine. Each pair of bases is held together by a hydrogen bond. Genes consist of a sequence of bases. Sequences of three bases code for amino acids or other information. Numerical abnormalities occur when a person has one or more extra copies of chromosome or is missing a chromosome. Trisomy can affect any of 23 paired chromosomes, but the most common are trisomy 21, trisomy 13, and trisomy 18, which affect both boys and girls. These abnormalities are visible with microscope in karyotyping. Small changes may occur in specific gene.S These changes do not affect the structure of chromosomes and thus cannot be seen on karyotype analysis or other chromosomal tests. More specific genetic testing is require. Some mutations in gene cause no problems and some cause few or only mild problems. Other mutations cause serious disorders such as sickle cell anemia, cystic fibrosis, and muscular dystrophy. Increasingly, medical scientists are finding specific genetic causes of children's diseases. A person's chromosomes and genes can be evaluated by analyzing a sample of blood. During pregnancy, doctors can use cells from amniocentesis or chorionic villus sampling to detect certain chromosome or gene abnormalities in the fetus. If the fetus has abnormality, further tests may be done to detect specific birth defects. More recently, screening test has been developed in which a sample of a pregnant woman's blood is analyzed to determine whether her fetus has certain genetic disorders. This test is based on the fact that the mother's blood contains a very small amount of DNA from the fetus. This test is called noninvasive prenatal screening or cell - free fetal DNA testing. Nips can be used to detect increased risk of trisomy 21, trisomy 13, or trisomy 18 and certain other chromosome disorders but is not diagnostic. Doctors usually recommend further testing when an increased risk of chromosome abnormality is detect.

* 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 is genetic counseling?

Genetic counseling helps you understand how genes, birth defects and other medical conditions run in families, and how they can affect your health and your babys health. Genes are parts of your body cells that store instructions for how your body grows and works. Genes are passed from parents to children. A Birth Defect is a health condition that is present 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. You get genetic counseling from genetic counselor. Your counselor could be: certified genetic counselor. This is someone who has special training to be genetic counselor. A Doctor or nurse with special training in Genetic counseling You can get Genetic counseling at any time, before or during pregnancy. Your health care provider can help you find genetic counselor in your area. Or contact the National Society of Genetic Counselors.


Why See a Prenatal Genetic Counselor?

Before you meet with genetic counselor in person, you may be asked to gather information about your family history. The Counselors will want to know of any relatives with genetic disorders, multiple miscarriages, and early or unexplained deaths. The counselor will also want to look over your medical records, including any ultrasounds, prenatal test results, past pregnancies, and medicines you took before or during pregnancy. When you meet with counselor, you 'll go over any gaps or potential problem areas in your family or medical history. Counselors can help you understand inheritance patterns of disorders and help assess your chances of having child with those disorders. The counselor will talk about risks that every pregnancy faces and risks that you personally face. Even if you discover you have a particular problem gene, science can't always predict the severity of related disease. For instance, child with cystic fibrosis can have debilitating lung problems or, less commonly, milder respiratory symptoms. If more tests are needed, counselor will help you set up those appointments and track paperwork. When results come in, counselor will call you with news and may ask you to come in for another discussion.

* 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?

Many birth defects ca be prevent, but there are some ways to lower the risk of having a baby with a birth defect. Women who plan to become pregnant should start taking folic acid supplements before conception. These supplements should also be taken throughout pregnancy. Folic acid can help prevent defects in the spine and brain. Prenatal vitamins are also recommended during pregnancy. Women should avoid alcohol, drugs, and tobacco during and after pregnancy. They should also use caution when taking certain medications. Some medications that are normally safe can cause serious birth defects when taken by pregnant woman. Make sure to tell your doctor about any medications you may be taking, including over - counter drugs and supplements. Most vaccines are safe during pregnancy. In fact, some vaccines can help prevent birth defects. There is a theoretical risk of harm to developing fetus with some live - virus vaccines, so these kinds should not be given during pregnancy. You should ask your doctor which vaccines are necessary and safe. Maintaining a healthy weight also helps reduce the risk of complications during pregnancy. Women with pre - existing conditions, such as diabetes, should take special care to manage their health. It is extremely important to attend regular prenatal appointments. If your pregnancy is considered high risk, your doctor can do additional prenatal screening to identify defects. Depending on the type of defect, your doctor may be able to treat it before the baby is born.

* 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?

Not all birth defects can be prevent. But there are things you can do before and during pregnancy to increase your chance of having a healthy baby: start prenatal care as soon as you think you might be pregnant, and see your health care provider regularly during pregnancy. Get 400 micrograms of Folic Acid every day. If possible, you should start taking it at least one month before you get pregnant. Don't drink alcohol, smoke, or use street drugs. Talk to your health care provider about any medicines you are taking or thinking about taking. This includes prescription and over - counter medicines, as well as dietary or herbal supplements. Learn how to prevent infections during pregnancy. If you have any medical conditions, try to get them under control before you get pregnant.

* 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

Poorest Countries Hardest Hit

Millions of serious Birth Defects, mostly in developing countries, could be avoided with cheap and simple measures, say report released today. The report, by US - based charity March of Dimes, is the first detailed global study of the problem. It says more than eight million children are born with serious diseases caused by their genes or by environmental factors every year, with 94 per cent of all Birth Defects occurring in low and middle - income countries. The most common defects include deformities of the heart or spine, and blood disorders such as thalassaemia. The report says about 3. 3 million children die from Birth Defects each year while another 3. 2 million people endure severe disabilities. But simple, cost - effective approaches could cut these deaths and disabilities by up to 70 per cent, it add. According to the report, 15 of 22 countries with the most Birth Defects are in the Middle East and North Africa. Co - author Bernadette Modell of University College London, United Kingdom, says this is partly due to poor maternal nutrition, high prevalence of inherited blood disorders such as Sickle cell Disease and thalassaemia, and because blood relatives often marry increasing chance of genetic diseases in their children. The report says folic acid supplements, iodised salt, and immunisation against rubella are among cheap solutions that could vastly reduce the number of Birth Defects in developing countries. It also says these countries should create maternal and child health programmes to raise awareness among health workers, policymakers and the public about causes of birth defects and ways of preventing or treating them. I fully agree with the main message: Birth defects can be prevent, say Pierpaolo Mastroiacovo, director of Italy - base International Clearinghouse for Birth Defects Surveillance and Research. The starting point is an efficient Birth - Defects Surveillance programme implemented even in small areas or in few maternity hospitals, he say, adding that his organisation could help set up such programmes. According to the report, Sudan has most Birth Defects, with 82 per 1 000 live births, compared with 39. 7 in France, which had the lowest number among the 193 countries survey.

* 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

Genetic Screening for Birth Defects

Diagnostic tests

TestsWhen they are usually done
Chorionic villus sampling (CVS)10 to 13 weeks
Amniocentesis15 to 20 weeks

Screening Tests can give information about a pregnant woman's risk of having a baby with certain birth defects or genetic conditions. These tests also help your doctor detect possible problems during your pregnancy. Some pregnant women may have other tests, depending on their medical histories, previous pregnancies, family or ethnic background, or exam results. This pamphlet will tell you more about: almost all children in the United States are born healthy. Out of 100 newborns, only two or three have major birth defects. A birth defect is a physical problem that is present at birth. It is also called congenital disorder or malformation. For about 70% of babies born with birth defects, cause is not know. In other cases, birth defects are inherited through genes or chromosomes or caused by the mother being exposed to harmful agents or medications. Birth Defects are caused by errors in the way babies develop. Birth defects may affect how the body look, work, or both. Many birth defects are mild, but some can be severe. Babies with birth defects may need surgery or medical treatment. Most birth defects occur during the first 3 months of pregnancy. Some can be found before birth with special screening tests. Others appear at birth or later in a person's life. Some of the most common birth defects found through Screening Tests include: neural Tube defect: Incomplete closure of fetal spine that can result in spina bifida or anencephaly. Abdominal wall Defects: One type of defect occurs when muscle and skin that cover the wall of the abdomen are missing and the bowel sticks out through a hole in the abdominal wall. Another type is when tissue around the umbilical cord is weak and allows organs to protrude into this area. Heart defect: chambers or pathways through the heart are not properly develop. Down Syndrome: Mental retardation, abnormal features of face, and medical problems such as heart defects occur as result of extra chromosome 21. Trisomy 18: There is extra chromosome 18, which causes severe mental retardation and birth defects and sometimes death. Some genetic disorders are more common in certain ethnic groups. Carrier testing can be done before, after, or during pregnancy to assess the risk of some of these disorders. This type of testing is not available for all genetic disorders. Screening Tests are offered to all pregnant women to assess their risk of having a baby with a birth defect or genetic disorder. If a screening test shows an increased risk of having an affected baby, further tests may be used to diagnose the problem. Abnormal screening test result, while alarming, only signal possible problem. In most cases, baby is healthy even if there is an abnormal screening test result. Likewise, birth defects can occur even if test results do not show problem. Most tests focus on certain problem,s and not all disorders can be found by testing.

* 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.

Screening tests

TestsWhen they are usually done
First-trimester screening (first part of integrated screening )10 to 13 weeks
Nuchal translucency (usually done as part of the first-trimester screening)11 to 14 weeks
Cell-free fetal DNA (an option for women at higher risk)10 weeks or later
Triple or quad screening (second part of integrated screening)15 to 20 weeks
Ultrasound (pictures of baby's body)18 to 20 weeks
* 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 genetic disorders?

A Genetic disorder is a disease caused in whole or in part by change in DNA sequence away from normal sequence. Genetic disorders can be caused by mutation in one gene, by mutations in multiple genes, by combination of gene mutations and environmental factors, or by damage to chromosomes. As we unlock secrets of the human genome, we are learning that nearly all diseases have genetic component. Some diseases are caused by mutations that are inherited from parents and are present in individuals at birth, like sickle cell disease. Other diseases are caused by acquired mutations in genes or groups of genes that occur during a person's life. Such mutations are not inherited from parent,s but occur either randomly or due to some environmental exposure. These include many cancers, as well as some forms of neurofibromatosis.


What Is a Gene?

Sometimes scientists alter genes on purpose. For many years, researchers have altered genes in plants to produce other plants with special characteristics, such as increased resistance to disease and pests or ability to grow in difficult environments. We call this genetic engineering. Gene therapy is a promising new field of medical research. In gene therapy, researchers try to supply copies of healthy genes to cells with variant or missing genes so that good genes will take over. Viruses are often used to carry healthy genes into targeted cells because many viruses can insert their own DNA into targeted cells. But there are problems with gene therapy. Scientists still don't quite know what every gene in the human body does. Huge scientific efforts like the Human Genome Project and related projects have a complete map of the entire Human Genome, but it will take many more years to find out what each gene does and how they interact with one another. For most diseases, scientists don't know if and how genes play a role. Plus, there are major difficulties inserting normal genes into proper cells without causing problems for the rest of the body. There are also concerns that people might try changing genes for ethically troubling reasons, such as to make smarter or more athletic children. No one knows what the long - term effects of that kind of change will be. Still, for many people who have genetic diseases, gene therapy holds hope that they or their children will be able to live better, healthier lives.

* 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

Types of Disorders

There are several types of disorders that can be seen during pregnancy: single gene disorders occur when change in one gene causes disease. Examples include cystic fibrosis, sickle cell anemia, Tay - Sachs disease, hemophilia, and Marfan syndrome. Chromosomal abnormalities occur where there are missing or extra chromosomes, or pieces of chromosomes. Down syndrome, most common chromosomal abnormality, is caused by extra chromosome number 21. Chromosome abnormalities can be inherited from parents or they can happen by chance. Multifactorial or complex disorders are caused by a combination of genetic predispositions and environmental factors, which make it harder to predict who may be at risk. Examples include heart defects, cleft lip or cleft palate, and spina bifida. Teratogenic disorders occur when a baby is exposed to substances during pregnancy that cause abnormalities, otherwise known as teratogens. Babies are very sensitive in the first trimester, when all of organs are developing. Teratogens include alcohol, drugs, lead, high levels of radiation exposure, and certain medications, infections and toxic substances.

* 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

Screening Tests

Screening Tests to check the chance of your baby having certain genetic disorders include: carrier Screening is a blood test that tries to determine if either parent carry genetic change for inherited disorders that could be passed on to the baby. It can also be done on saliva sample. The best time to do this screen is before getting pregnant, but it can be done during pregnancy as well. While this screen can check for many conditions at once, it is not currently possible to screen for every disorder that could be inherit. Prenatal Genetic screens are a series of first and second trimester screens that use blood samples from the mother as well as ultrasounds to check babys risk of having certain common genetic disorders. Examples include Down Syndrome and certain birth defects, such as spina bifida. Noninvasive Prenatal Testing or Cell - Free DNA Screening is a blood test that checks DNA from placenta that is found in mothers blood. This screens for the most common Chromosome abnormalities, such as Down Syndrome and Trisomy 18, and is most commonly used in high - risk pregnancies.

* 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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