In a family which has a history of birth defect cases, it is difficult to accept the truth that your future child has a greater risk of having a birth defect. Prevention of the possible birth defects is the most common advice given to the family by many doctors. The proper and enough absorption of folic acid give many expectant mothers low risk of having babies with birth defects. Not all birth defects are fatal or untreatable like many parents believe. Many improved medications on birth defects are available and guaranteed to prevent having babies with birth defect.
Some are treatment for babies that still in the womb. The most important thing for the treatment is to be able for the mother to understand the risk factors and how she can prevent having a baby with a birth defect. Knowledge about Birth Defects A birth defect is an abnormality of structure, function or metabolism that is present at birth. This abnormality leads to mental or physical disability or can lead to death. Many birth defects are known ranging from minor to serious. They are considered the leading cause of death of many babies in their first year of life.
Order custom essay Disease Control and Prevention Critique Essay with free plagiarism report
According to the Center for Disease Control and Prevention (CDC), about 120,000 babies are born each year suffering from birth defects in the United States alone. Causes of Birth defects About 60% of the birth defect cases have unknown causes. Environmental and genetic factors are also causes of birth defects (Morbidity and Mortality Weekly Report, 352-356). Genetically inherited birth defects occur when one or both parents pass along a defective gene to the child. Genes carry thread-like structures called chromosomes that determine individual characteristics and feature (Millensky, 1989, 201-267).
Any faulty or missing gene can cause birth defect. Some of the birth defects can only occur if both parents are carrier of the defect. Even healthy parents can have effective genes and pass this on to their child. This kind of event is called the recessive inheritance. Recessive diseases are more severe than dominant diseases. Some examples of birth defects that are caused by recessive inheritance are sickle cell anemia, Tay-Sachs disease, phenylketonuria (PKU) and cystic fibrosis (Millensky, 1989, 201-267).
If only one parent passes along the recessive gene, the normal gene received from the other parent will prevent the disease. However, that child will be a carrier of the disease. The carrier of the disease has a 25% chance to have the disease if the other parent is also a carrier. Birth defects, such as Down syndrome, can also be caused by too many chromosomes or damaged chromosomes. Babies with Down syndrome have varying level of mental retardation and heart defects.
On the other hand, environmental causes of birth defects include poor prenatal care, exposure to chemicals or radiation and use of drugs and alcoholic drinks during pregnancy. Any substance that can cause any abnormal development is termed “teratogen’ (Benneth, 2006, 217-230). Certain infections can result in birth defects when the woman deals with it during her pregnancy. About 40,000 babies a year are born with a viral infection known as cytomegalovirus (CMV) (Morbidity and Mortality Weekly Report, 352-356). These babies develop serious disabilities including mental retardation and loss of vision and hearing.
Some of the other infections that can cause birth defects include syphilis, toxoplasmosis, Venezuelan equine encephalitis and parvovirus (Benneth, 2006, 217-230). In unusual cases, having a chicken pox during pregnancy can also cause birth defect. Much absorption of alcohol during pregnancy can cause fetal alcohol syndrome. This syndrome includes mental retardation, low birth weight and heart problems. If alcohol has severe cause, so is the improper use of drugs. Drugs that can cause birth defects include tetracycline, sulfa drugs, hormone supplements and recreational drugs such as cocaine and LSD.
Some birth defects, such as neural tube defects and cleft lip and palate are considered multifactorial birth defects which are caused by a combination of environmental and genetic factors. Other causes of birth defects are Rh disease. This disease is the incompatibility of the mother’s and baby’s positive and negative blood factors (3). Common Birth Defects The most common defects in the United States are the Cleft lip or palate and Down syndrome. Each year, about 6,800 and 5,500 babies are born with cleft lip/ palate and Down syndrome respectively (Morbidity and Mortality Weekly Report, 352-356).
Effects of cleft lip/ palate include problems in eating, speech and language. Cleft lip/ palate are not dangerous and surgical repair of the cleft can be done when the child reach the right age and size and is in good health to tolerate surgery. The most common problem encountered by children with clefts is hear infections. The cleft allows fluid and germs to enter the ears more easily that normal that causes the infections in the ear. The occurrence of cleft lip/ palate can also cause more cavities leading to dental problems, thus, dental checkup is recommended by doctors.
Moreover, statistics show that about 1,900 babies are born with a serious heart defect called transposition of the great arteries each year (Morbidity and Mortality Weekly Report, 352-356). Though advances in surgery developed the outlook for affected babies, heart defects still remain as the leading cause of birth defect infant deaths (Martin, 619-622). Doctors and many experts can not explain the real causes of abnormality in the heart, although both genetic and environmental factors are considered.
Another defect that is caused by both genetic and environmental factors (including insufficient amount of folic acid) is the Spina Bifida or open spine. According to the Center for Disease Control and Prevention (CDC), about 1,300 cases occur each year. Other common birth defects include musculoskeletal defect (arm and leg defect), gastrointestinal defects, and eye defects (). Martin, 619-622 Birth Defect of Body Chemistry Birth defects of body chemistry are not visible, but they can be harmful and worst, fatal. In 2002, about 3,000 babies were born with defects affecting body chemistry.
A recessive genetic disease is the common cause of disorder of body chemistry. The inability of cells to produce enzymes or proteins that are needed to carry substance from one place to another to change certain chemicals to another is the main cause of this disease. An example is Tay - Sachs disease. Affected babies lack an enzyme needed to break down certain fatty substances in the brain cells. These fatty substances destroy brain cells that may result to blindness, paralysis and even death at the age of 5. Another example is phenylketonuria (PKU).
In this disease, the baby cannot process a part of protein which builds up and damage the brain. Birth Defect Testing There are two types of testing available in many hospitals and health centers to look for possible occurrence of birth defects. The first one is the screening test, which is able to look whether the baby is likely to have birth defects. If the screen test is positive, the second teat which is the diagnostic test should be performed. The rule of the diagnostic test is to confirm or rule out the possible problem that was detected by the screen test.
Screening tests The processes involve in performing screen test that looks for Down syndrome are the nuchal fold ultrasound and a blood test. The ultrasound test uses sound waves to measure the thickness of the fetus’ neck while the blood test is intended to measure the levels of beta-hCG and a protein called pregnancy- associated plasma protein. Another screening test that is done between 15-20 weeks of pregnancy is the maternal serum triple or quadruple screening test. These tests check the amounts of three or four substances in a pregnant woman’s blood.
Estimation of the chance of the fetus to have Down syndrome or other health problems is done after these blood tests. The quad screen on the other hand, check the substances (alpha-fetoprotein, and unconjugated estriol) and the level of hormone inhibin A. The doctors estimate the tendency of a woman to have a child with birth defects or other health problems through the data provided by the tests along with the age of the woman and other certain factors. Ultrasound on the other hand is a test that shows the development of the baby.
This is usually done during the 18th and 20th week of pregnancy. Ultrasound can be used to screen some chromosomes with problems and find structural problems of the heart, spine, abdomen and other parts of the body. Diagnostic test Doctors usually used Chorionic villus sampling (CVS) to look at cells in the placenta. In this test, a sample of chorionic villus cells is collected by putting a small tool into the uterus through the vagina or by putting a needle through the belly into the uterus. This test can find many family diseases such as hemophilia and sickle cell disease.
Another test under diagnostic is Amniocentesis which looks for many chromosomal problems by looking at the cells in the amniotic fluid. This test can find neural tube defects such as Spina bifida. Newly- born babies can also be tested, with the permission of the parents, for possible birth defects. Usually, all states perform PKU and congenital hypothyroidism on all the babies. The tandem mass spectroscopy is a new technique used by many state to newborn babies. This technique provides many features that screens for many disorders of metabolism on a small blood sample. Prevention
There are many ways of reducing the risk of a woman having a baby with birth defect. These ways should be remember and should be take into consideration by many women who wants to have a healthy with no physical or mental defects. One important thing to remember is the preconception visit with the health care provider. The health provider identifies the health conditions, such as high blood pressure and diabetes, which may cause risk in pregnancy. The provider can advice on lifestyle factors, such as quitting smoking and alcohol drinking that can cause risk in pregnancy.
The medication intake of the woman is also check by the health provider to make sure that the medication is safe to pregnancy. The visit to health providers is crucial to women with chronic health problems, such as diabetes and high blood pressure. A great example is the woman which have diabetes has more likely to have a baby with birth defect compare to the woman who is not diabetic. Controlling the blood sugar levels of the woman starting before pregnancy can give low risk of having a baby with serious birth defects (11). This advice can be provided by the health care providers.
Another thing that can be done by the health provider during the preconception visit is to see whether the vaccinations of the woman are up to date. If the woman has no vaccines against chickenpox and rubella, she has to be vaccinated before pregnancy. In this way, possible risk of birth defect can be lower against woman with no vaccines. Vaccinated woman should wait for a month after being vaccinated before trying to become pregnant. All women should also know their health history including that of their partner and their family. With this, the provider can identify risk factors for inherited genetic conditions.
The usual thing that the provider does when this case occurs is to refer the couples to genetic counselor that can explain the risk of birth defects and provide them assistance in conducting proper tests. Pregnant woman or woman who is planning to get pregnant should avoid any alcohol absorption, smoking and intake of drugs. The woman should not take any medication over the counter without making sure that this medication is safe for pregnant women. All women who could become pregnant should take a daily multivitamins containing folic acid.
Studies show that proper intake of folic acid during early pregnancy will provide low risk of having a baby with neural tube defects (Spina bifida). Folic Acid to Prevent Birth Defects Folic acid is a synthetic form of folate which is a b vitamin found in a variety of foods. Folate is needed both before and in the first weeks of pregnancy and can help reduce the risk of having babies with common birth defects such as neural tube defects, which affect the brain and spinal cord. Neural tube defects can occur in an embryo before a woman realizes she is pregnant.
This is the reason why it is important for all women age 15 to 45 to include folate in their balanced diet. With this, women who will get pregnant reduce their risk of having a baby with defect of the brain or spinal cord. New technologies were developed to include folate in many food supplements. The Food and Drug Administration requires food manufacturers to fortify enriched grain products with folic acid. In this way, women can get sufficient amount of folic acid even in breads and fortified grains such as enriched pasta, rice, waffles and cereal bars. Other ways for pregnant women to have sufficient amount of folic acid are as follows:
1) Eat fruits, dark-green leafy vegetables, dried beans and peas, and other foods that are natural sources of folate, 2) Eat folic acid-fortified enriched cereal grain products and breakfast cereals, 3) Take a food supplement containing folic acid. Nutrition information indicated on the labels of many food and dietary supplements can guide many women in identifying the amount of folic acid they are obtaining. Neural Tube Birth Defects The technical names of the two major neural tube birth defects reduced by adequate folate intake are anencephaly and Spina bifida.
With proper medical treatment, most babies born with Spina bifida can survive to adulthood. But they may require leg braces, crutches, and other devices to help them walk. Other maternal factors also may contribute to the development of neural tube defects. Among these include the following: 1) use of certain ant seizure medications, 2) severe overweight, 3) family history of neural tube defects, 4) prior neural tube defect-affected pregnancy, 5) fever during early pregnancy and 6) diabetes. Studies about Folate In the 1950’s, scientist first suggested a connection between neural tube birth defects and diet.
This incidence has always been higher in low socioeconomic groups in which women may have poorer diets. Another study looked at folic acid intake in Hungarian women. The evidence indicated that mothers who had never given birth to babies with neural tube defects and who took a multivitamin and mineral supplement with folic acid had less risk in subsequent pregnancies for having babies with neural tube defects than women given a placebo. Another study conducted by the U. S. Public health service in September 1992 resulted to a data that shows that all women of childbearing age capable of becoming pregnant consume 0.
4 mg of folate daily to reduce the risk of having a pregnancy with Spina bifida. This value corresponds to FDA’s Daily Value for folic acid, which is 400 micrograms for non-pregnant women. On the other hand, the Department of Agriculture said that many women between 19 and 50 consume much less than 400 micrograms of folate a day. Where to obtain Folic Acid Folate occurs naturally in a variety of foods, including liver, dark-green leafy vegetables such as collards, turnip greens, and Romaine lettuce, broccoli and asparagus, citrus fruits and juices.
Folate can also be obtained from dietary supplements, such as folic acid tablets and multivitamins with folic acid, and from fortified breakfast cereals. Certain information on food and dietary supplement labels can help women spot foods containing substantial amounts of folate. The exact amount of folic acid is indicated in the label’s nutrition facts panel. Some food and dietary supplement labels may claim that their product has sufficient amount of folic acid that reduce risk of having babies with birth defects. The products that claim this must: 1) provide 10 percent or more of the daily value for folic acid per serving;
2) not contain more than 100 percent of the daily value for vitamins A and D per serving because high intakes of these vitamins are associated with other birth defects; and 3) List on the label’s Nutrition or Supplement facts panel the amount by weight in micrograms. This claim about folate is supported by the studies and statistics have been discussed but these alone will not ensure a healthy baby with no birth defects. Not only folate intake, but genetics is one of the factor that affect the pregnancy and providing risk to have babies with defects. Women have options for reaching the folate intake goal.
They can attain this both before and during pregnancy by having a healthy balanced diet. The combination of having proper intake of folic acid will ensure that women have low risk of having babies with birth defects. References American Academy of Pediatrics. Cytomegalovirus, in Pickering, L. K. (ed. ), Red Book: 2003 Report of the Committee on Infectious Diseases, 26th edition. Elk Grove Village, IL: American Academy of Pediatrics, 259-262. Benneth, K. A. Fetal Surgery for Myelomeningocele, In Wyszynski. Neural Tube Defects from Origin to Treatment. New York City, Oxford University Press, 2006, 217-230.
Birth Defects. Retrieved May 18, 2008, from <http://www. medicinenet. com/birth_defects/article. htm> Center for Disease Control and Prevention (CDC). Spina bifida and Anencephaly Before and after Folic Acid Mandate, 1995-1996. Morbidity and Mortality Weekly Report, volume 53, number 17, 362-365. Children , Youth and Women’s Health Service. Alcohol- Effects on Unborn Children. Retrieved May 20, 2008, from <http://www. cyh. com/HealthTopics/HealthTopicDetails. aspx? p=114&np=122&id=1950> Department of Human Service. Birth Defects in Victoria in 2003 and 2004. Retrieved May 18, 2008, from http://www.
betterhealth. vic. gov. au/bhcv2/bhcarticles. nsf/pages/Birth_defects_in_Victoria_2003_to_2004 Department of Health and Human Services, Center for Diseases Control and Prevention. Fetal Alcohol Spectrum Diseases. Retrieved May 20, 2008, from http://www. cdc. gov/ncbddd/fas/fasask. htm Martin, J. A. , et al. Annual Summary of Vital Statistic. Pediatrics, Volime115, number 3, 619-634. Millensky, Aubrey. (1989). Genetic Disorders and the Fetus. 3rd edition, 201-267. New York: Plenum Press. (1995)Tropical Pediatrics and Environmental Child Health, Vol. 23, number 1, 4-10.
Cite this Page
Disease Control and Prevention Critique Essay. (2016, Aug 08). Retrieved from https://phdessay.com/birth-defects/
Run a free check or have your essay done for you