Blindness for Baby What Is This Birth Defect

Birth Defects

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Photo by: Jaimie Duplass

A birth defect is an abnormality in the torso structure or chemistry of a newborn kid. It may be caused by hereditary factors (that is, past genetic causes), past ecology influences that affect the embryo or fetus in the female parent'due south womb, or by a combination of factors. Often, the cause of a birth defect is unknown.

KEYWORDS

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Genetics

Pregnancy

Amniocentesis

Infant mortality

Birth defects sometimes are called congenital anomalies (kon-JEN-i-tal a-NAM-a-leez). Congenital means present at birth, and anomalies are abnormalities or irregularities. An abnormality present at birth usually is non considered a birth defect unless information technology results in a disease or in a concrete or mental disability. For example, birthmarks are seldom considered birth defects because they usually practise non cause health problems.

The March of Dimes estimates that iii to 5 pct of babies born in the U.s. have some blazon of nascence defect. Some birth defects, such as cleft palate, occur infrequently. Others, such as some built centre defects, are more common. Some hereditary defects are more common in certain populations than in others. For example, sickle-cell anemia, an inherited claret disease, occurs mainly in people of African ancestry, whereas Tay-Sachs disease, a fatal disorder of body chemical science, primarily affects people of eastern European Jewish ancestry.

How Do Hereditary Factors Crusade Birth Defects?

Each of u.s. has genes ^* that are inherited from our parents. The genes occur in pairs along threadlike bodies chosen chromosomes ^* , which are located in the nucleus ^* of each cell in the trunk. Genes decide our inborn characteristics, or traits. These traits include how we look and how the chemical substances in our bodies function. In the example of birth defects, the genes too may make up one's mind abnormalities if they are faulty in some way.

Mendelian inheritance patterns

The simplest patterns of birth defect inheritance are called Mendelian, named for the Austrian monk Gregor Mendel who observed them in the nineteenth century. In Mendelian inheritance, traits (including defects) tin be transmitted by way of dominant or recessive genes.

It works this way: A child inherits two copies of each gene, one from the female parent and ane from the father. If a defective factor is dominant, a child who inherits even one copy of it will have the defect. That is because the lacking copy "dominates," or overwhelms, the normal copy inherited from the other parent. Only if a defective gene is recessive, the child would have to inherit two lacking copies—i from the mother and one from the male parent—in gild to have the defect. A person who inherited only i defective copy would exist salubrious merely could pass the lacking copy on to his or her ain children. These kinds of inheritance patterns cause what researchers call autosomal (aw-to-And then-mal) birth defects.

Examples of autosomal dominant birth defects are Huntington's illness, a nervous organization disorder, and Marfan syndrome, which is characterized by tallness, elongated basic, and heart problems. Some birth defects, such as Huntington'south disease, may not testify symptoms for many years.

Other birth defects are determined by genes located on the Ten chromosome (the X and Y chromosomes determine the sex of an infant). Such abnormalities are said to be Ten-linked. Hemophilia, a claret disorder, and color blindness are examples of X-linked nascence defects.

^* genes are chemicals in the body that help determine a person's characteristics, such as pilus or eye color. They are inherited from a person'southward parents and are independent in the chromosomes institute in the cells of the body.

^* chromosomes are thread-like structures inside cells on which the genes are located.

^* nucleus is the part of the jail cell that contains its genetic data.

Many hereditary birth defects, even so, are not simply ascendant, recessive, or X-linked. They may be produced instead by multiple faulty genes.

Chromosome abnormalities

Some birth defects are caused by extra, missing, incomplete, or misshapen chromosomes. Down's syndrome, one of the nigh common nativity defects, ordinarily is caused past the presence of an extra chromosome in the cells. Down syndrome produces mental retardation, short stature, and distinctive facial features. Defects involving the sex chromosomes can produce problems in sexual development, including sterility, which is an inability to take children.

How Exercise Ecology Factors Cause Birth Defects?

Nascency defects also can be acquired by environmental factors, either alone or together with faulty genes. "Ecology" here refers to the environment in the mother's uterus, or womb, rather than to the globe's environment. Still, scientists are studying the possible influence on birth defects of poisons in the globe's environment.

Pregnant women who consume excessive amounts of alcohol during the early on stages of pregnancy run a risk having babies with fetal booze syndrome. Children with this disorder may have various defects in growth, facial advent, and mental ability. Scientists are studying whether even moderate utilize of alcohol tin harm a fetus. Smoking during pregnancy increases the likelihood that the baby will have lower than normal weight at birth, increasing the risk of defects.

Some illnesses in a pregnant adult female can crusade damage to the fetus. For example, German measles (rubella) can crusade deafness, blindness, and heart defects in the newborn. Sexually transmitted diseases also can be transmitted to the fetus or to the newborn at birth.

Sure medications have been linked to nascency defects. The most famous is the drug thalidomide (tha-LID-o-mide), a sedative that in the early 1960s was found to cause profoundly shortened artillery and legs in many newborn infants. Many other medications, including tranquilizers and antibacterial and anticancer drugs, tin crusade congenital abnormalities.

Other ecology factors believed to increase the chance of birth defects include poor nutrition and the age of the female parent. For case, the older a meaning woman is, the more probable she is to give nascence to a kid with Down's syndrome. If the expectant mother is 35 or older, experts recommend that the fetus be tested.

How Do Doctors Diagnose Nascency Defects?

Some birth defects tin can exist diagnosed while the child is still in its mother's womb. A procedure chosen ultrasound, which uses audio waves to produce an image of a fetus on a screen, tin discover some malformations. For example, a defect called spina bifida, in which a office of the spinal cord is exposed, can be discovered past ultrasound.

The U.S. and the World

• An estimated 515,000 people worldwide died of nativity defects in 1998. About 93 percentage of those deaths were in low-and middle-income nations.
• More than 28 meg people worldwide live with birth defects, and about 93 percent live in countries with low or eye income.
• Birth defects are the leading cause of baby mortality in the United States. In 1997,six,178 children died earlier their first birthdays considering they had 1 or more nascency defects. That number is 22 per centum of all children who died underage 1.
• The nearly mutual birth defects involve the heart. Well-nigh 28 percent of the children nether age 1 who died of nascency defects in 1997 had problems with their hearts. The second most common category comprised defects of the respiratory system, accounting for about 16 percent of the deaths that yr.
• The death rate from birth defects in the United States dropped 37.vii per centum between 1979 and 1997. One reason for the decrease is improved medical care for infants with birth defects.
• Children with birth defects who survive their starting time yr all the same may die of complications from the defects later in life. In 1997,11,912 people of all ages died of birth defects, with simply about half under age i.
• About 150,000 babies a year are born with a birth defect in the United States. The charge per unit in the mid-1990s put the The states twenty-fifth in the world, with twice as many birth defects per one,000 live births as the nation with the lowest charge per unit, Nippon.

In a procedure called amniocentesis (am-nee-o-sen-TEE-sis), a small sample of fluid surrounding the fetus is removed through a needle and examined. This examination is useful in detecting inborn metabolic (body chemical science) defects and abnormalities in the chromosomes.

Many nascency defects tin be diagnosed by a doctor's physical examination of a newborn baby. Other tests, including 10-rays, may be ordered if doctors doubtable a birth defect; blood tests tin detect certain disorders of the claret or trunk chemistry. Many infants with defects can develop normally if they receive prompt treatment.

How Do Doctors Treat Birth Defects?

Not every birth defect affects the quality of life of the person who has information technology. Some nativity defects have petty issue, except mayhap on appearance.

Several nascence defects can be treated to forestall or reduce their harmful effects. Surgeons can perform operations to right such malformations as clubfoot, cleft palate, crack lip, and structural defects in the heart and digestive tract. Treatment can lessen the symptoms of cystic fibrosis, an inherited disease that interferes with breathing. In some cases, disorders such every bit hydrocephalus (hy-dro-SEF-a-lus), a damaging buildup of fluid in the head, can be remedied even earlier nascence.

Doctors can sometimes treat inborn disorders of body chemical science with medications and special diets. For example, prompt treatment can prevent encephalon damage in phenylketonuria (fen-il-kee-to-NOOR-ee-a), or PKU, a metabolic defect that can produce astringent mental retardation. Special education, rehabilitation, and the use of special devices and machines can help to starting time some mental and physical handicaps, such as incomprehension and deafness.

Thalidomide and
Phocomelia

Thalidomide is a allaying, a medication prescribed to calm the nerves. If taken in the early months of pregnancy it tin can crusade a nascence defect called phocomelia (fo-ko-MEE-lee-a), in which the arms, legs, or both are very short and underdeveloped.

Thalidomide was prescribed for pregnant women in Europe in the tardily 1950s and early on 1960s until it was linked to phocomelia in thousands of newborn babies. Fortunately for Americans, thalidomide never was sold in the United States because the U.S. Food and Drug Administration refused to approve it. An employee of this federal agency, Dr. Frances Kelsey, insisted that thalidomide's safety had non been proven. Many people think Dr. Kelsey saved hundreds or fifty-fifty thousands of children from severe birth defects.

The thalidomide tragedy led to an increase in government command over the marketing of drugs throughout the world, and the use of thalidomide is now banned or strictly controlled in virtually countries.

Thalidomide may show helpful in the treatment of such serious diseases as AIDS and leprosy, and researchers are standing to study its therapeutic uses.

How Do Doctors and Parents-to-Exist
Foreclose Birth Defects?

No one can guarantee that a baby will be born "perfect" and healthy. Yet, there are means to minimize the likelihood of having a child with a

Professional lawn tennis teacher Butch Lumpkin was built-in with the short arms and deformed fingers feature of phocomelia, which resulted from the use of Thalidomide during pregnancy.

UPI/Corbis-Bettmnann.

preventable nativity defect. Some of the most important means involve lifestyle. A prospective female parent should sympathise that many things she does may have an consequence on the new life growing within her:

• Significant women should not smoke or drink alcoholic beverages, nor should they utilise drugs of any kind unless prescribed by a doctor.
• Certain vitamins, if taken in proper amounts past the female parent-to-be, tin can aid forestall some nativity defects. For example, folate (folic acid) taken during pregnancy can help preclude certain defects of the spinal cavalcade and central nervous organization, including spina bifida.
• Vaccination well before pregnancy can prevent birth defects that might occur if the female parent were to develop German measles while pregnant.

Couples should seek genetic counseling earlier planning to have a child if the mother, begetter, or relatives take hereditary abnormalities.

Resources

Books

Kidd, J. S., and R. A. Kidd. Life Lines: The Story of the New Genetics. New York: Facts on File, 1999. This survey for young adults discusses the development of the study of genetics.

Marshall, Elizabeth L. The Human Genome Project: Cracking the Code Within The states. New York: Franklin Watts, 1997. A look at this international projection and the scientists doing the research.

Organizations

U.Southward. Centers for Illness Command and Prevention (CDC). CDC posts several fact sheets about birth defects at its website.
http://www.cdc.gov/health/diseases.htm
http://www.cdc.gov/nceh/programs/infants/brthdfct/prevent/bd_rev.htm

The March of Dimes Nascence Defects Foundation, 1275 Mamaroneck Avenue, White Plains, NY 10605. The mission of this national arrangement is to better the health of babies by preventing birth defects and infant mortality. Its website offers information on the cause and prevention of birth defects.
Telephone 888-663-4637
http://www.modimes.org

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Source: http://www.humanillnesses.com/original/At-Ca/Birth-Defects.html

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