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Genetic Abnormalities In Babies

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Last Updated: 17 October 2020

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If a woman is already pregnant, doctor explain what procedures can be used to test the fetus during pregnancy. The doctor also explains what options are available if an abnormality is diagnose. Abortion is one of these options. In some cases, abnormality can be treat. Sometimes couple is referred to a genetic specialist to discuss issues. Doctors may advise women to get prenatal care at a center that provides more extensive services for newborns. Some birth defects, such as cleft lip or palate, result from abnormalities in one or more genes plus exposure to certain other factors, including substances in the environment. That is, abnormal genes make the fetus more likely to develop birth defect, but birth defects usually do not develop unless the fetus is exposed to specific substances, such as certain drugs or alcohol. Many common birth defects, such as heart malformations, are inherited in this way. Neural tube defects are birth defects of the brain or spinal cord. Examples are spina bifida and anencephaly. In the United States, neural tube defects occur in about 1 in 1 000 births. For most of these defects, inheritance is multifactorial. Other factors include family history: risk of having a baby with a neural tube defect is increased by having family member,s including couples children, with such a defect. For couples who have had baby with spina bifida or anencephaly, risk of having another baby with one of these defects is 2 to 3%. For couples who have had two children with one of these defects, risk is 5 to 10%. However, about 95% of neural tube defects occur in families without history of neural tube defects. Many Chromosomal abnormalities, mainly those involving abnormal number of chromosomes or abnormality in the chromosome's structure, can be detected by standard Chromosomal testing. These abnormalities occur in about 1 of 250 live births in the United States and account for at least half of all miscarriages that occur during 1 trimester. Most fetuses that have Chromosomal abnormalities die before birth. Among live - born babies, Down syndrome is the most common Chromosomal abnormality. Previous miscarriages: Having had several miscarriages may increase the risk of having a baby with Chromosomal abnormality. If fetus in the first miscarriage has Chromosomal abnormality, fetus in subsequent miscarriages is also likely to have one, although not necessarily the same one. If a woman has had several miscarriages, couples ' chromosomes should be analyzed before they try to have another baby. If abnormalities are identify, couple may choose to have prenatal diagnostic testing early in the next pregnancy. Chromosomal abnormality in prospective parent:s Rarely, prospective parents have structural Chromosomal abnormality that increases the risk of having a baby with structural Chromosomal abnormality. Chromosomal abnormality in one or both parents increases risk, even if the affected parent is healthy and has no physical sign of 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

What are genes and chromosomes?

Babies with chromosomal conditions have problems with one or more of their chromosomes. Chromosomes are structures that hold genes. Genes are part of your body's cells that store instructions for way your body grows and works. Genes are passed from parents to children. Each person has 23 pairs of chromosomes, or 46 in all. For each pair, you get one chromosome from your mother and one chromosome from your father. About 1 in 150 babies is born with chromosomal condition. Down syndrome is an example of a chromosomal condition. Because chromosomes and genes are so closely related, chromosomal conditions are also called genetic conditions.


What causes chromosomal conditions?

As you get older, there is a greater chance of having a baby with certain chromosomal conditions, like Down syndrome. For example, at age 35, your chances of having a baby with chromosomal condition are 1 in 192. At age 40, your chances are 1 in 66. If you or someone in your family has chromosomal condition, or if you have a baby with chromosomal condition, talk to a genetic counselor. A Genetic counselor is a person who is trained to know about genetics, birth defects and other medical problems that run in families. She can help you understand causes of chromosomal conditions, what kind of testing is available, and your chances of having a baby with these conditions. If you already have a baby with chromosomal condition, chances of having another baby with the same condition are usually low.

* 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 can tell you whether you are at risk of developing a genetic disorder or having a child with a genetic disorder. Genetic Counseling can also help you to make sense of information and put it into context for your child. It may be conducted by a geneticist, doctor with special training or a Genetic Counselor, who will explain the cause of the disorder, availability of testing, prognosis, medical management and treatment. Genetic Counseling sessions typically last an hour or longer, depending on the complexity of your child's case. There are many reasons to seek Genetic Counseling, including the following: chromosome abnormalities, cleave lip / palate heart Defect mental retardation, neural tube defects, short stature single gene defects, hearing or visual impairments, learning disabilities, psychiatric Disorders cancers, multiple pregnancy losses 2. Parent with autosomal dominant disorder, or any disorder seen in several generations


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?

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 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.

* 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

Common birth defects

Birth defects are typically classified as structural or functional and developmental. Structural defects are when a specific body part is missing or malformed. The most common structural defects are: functional or developmental birth defects cause body part or system not to work properly. These often cause disabilities of intelligence or development. Functional or developmental birth defects include metabolic defects, sensory problems, and nervous system problems. Metabolic defects cause problems with babys body chemistry. Most common types of functional or developmental birth defects include: down syndrome, which causes delay in physical and mental development, sickle cell disease, which occurs when red blood cells become misshapen, cystic fibrosis, which damages the lungs and digestive system. Some children face physical problems associated with specific birth defects. However, many children show no visible abnormalities. Defects can sometimes go undetected for months or even years after a child 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

Birth Defects in Children

When a baby is born with a birth defect, first question often asked by parents is how does this happen? Sometimes this question ca be answer. This can be very upsetting for parents. It is normal to want to know why your baby has health problem. Birth defects can happen for many reasons. This can happen because of mothers exposure to certain things while she is pregnant. Or they can happen because of certain genes or changes in genes. It could also be a combination of these things. But often cause n't know. Inheritance and gene defects. Inheritance means trait passed on to you from one of your parents. Examples of normal inherited traits are eye color and blood type. Genes are what give you your traits. Sometimes, child can inherit not only those genes for normal traits such as eye color, but also disease - causing genes that cause birth defect. Chromosome problems. Chromosomes are stick - like structures in the center of each cell. Chromosomes contain your genes. Changes in chromosomes can cause health problems. Multifactorial inheritance. This means that many things are involved in causing birth defect. These things are often both genetic and environmental. Teratogens. A Teratogen is a substance that can cause birth defect. It is often something in the environment that a mother may be exposed to during her pregnancy. It could be prescribe medicine, illegal drug, alcohol use, toxic chemical,s or disease that mother has. Any of these could increase the chance for a baby to be born with a birth defect.

* 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

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 the 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.

* 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

Genetic Disorders are caused by changes in persons genes or chromosomes. Aneuploidy is a condition in which there are missing or extra chromosomes. In Trisomy, there is an extra Chromosome. In monosomy, chromosomes are missing. Inherit Disorders are caused by changes in genes called mutations. Inherited Disorders include Sickle Cell Disease, cystic Fibrosis, Tay - Sachs Disease, and many others. In most cases, both parents must carry the same gene to have affect child. Cell - Free DNA is a small amount of DNA that is released from the placenta into the pregnant woman's bloodstream. Cell - Free DNA in sample of women's blood can be screen for Down Syndrome, Patau Syndrome, Edwards Syndrome, and problems with the number of sex chromosomes. This test can be done starting at 10 weeks of pregnancy. It takes about 1 week to get results. Positive Cell - Free DNA test result should be followed by diagnostic test with Amniocentesis or CVS. With any type of testing, there is a possibility of false - positive results and false - negative results. Screening test results that show there is a problem when one does not exist is called a false - positive result. Screening test results that show there is not a problem when one does exist is called a false - negative result. Your Health Care professional can give you information about rates of false - positive and false - negative results for each test. It is your choice whether to have Prenatal Testing. Your personal beliefs and values are important factors in decision about Prenatal Testing. It can be helpful to think about how you would use the results of Prenatal Screening Tests in your Pregnancy Care. Remember that the positive screening test tells you only that you are at higher risk of having a baby with Down Syndrome or another aneuploidy. Diagnostic tests should be done if you want to know more certain result. Some parents want to know beforehand that their baby will be born with a genetic disorder. This knowledge gives parents time to learn about disorders and plan for medical care that child may need. Some parents may decide to end pregnancy in certain situations. Other parents do not want to know this information before their child is born. In this case, you may decide not to have follow - up diagnostic testing if the screening test result is positive. Or you may decide not to have any testing at all. There is no right or wrong answer. Amniocentesis: procedure in which amniotic fluid and cells are taken from the uterus for testing. The procedure uses a needle to withdraw fluid and cells from the sac that holds the fetus. Carrier Screening: test done on person without signs or symptoms to find out whether he or she carries a gene for genetic disorder. Cell - Free DNA: DNA from the placenta that moves freely in pregnant women's blood. Analysis of this DNA can be done a noninvasive Prenatal Screening test.

* 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

Treatment for Fetal Genetic Disorders

With amniocentesis, doctor inserts a thin needle through the pregnant women's abdominal wall into the uterus. A small sample of amniotic fluid is taken from the sac surrounding fetus. When fluid is analyzed in the laboratory, it can check for serious genetic and chromosomal disorders, such as Down syndrome. For genetic studies, amniocentesis is usually performed during the second trimester, although it may be done later to test whether babys lungs are developed enough for birth. Results of most amniocentesis tests are available within about two 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.

* 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 abnormalities?

If abnormalities are detect, parents are offered consultations to discuss potential prognosis for their baby. They will then have to decide whether to continue the pregnancy, end pregnancy, or place baby for adoption. If birth defect is treatable before delivery, doctors may be able to offer referral to a center that performs intrauterine surgical procedures. Often they recommend waiting until after birth. Conditions that may be correctable prior to birth via intrauterine surgery include: myelomeningocele / spina bifida Twin - Twin transfusion syndrome, some malformations of lung Specific heart defects. Not all patients with babies with the above problems are candidates for intrauterine procedures.

* 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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