Genetic Birth Defects Each year in the United States, more than 120,000 babies are born with a birth defect. They are the leading cause of infant deaths. There are thousands of different birth defects, affecting the structure or function of every part of the human body. Birth defects are significant abnormality of appearance, structure, or function that is present at birth. Lots of people have different birth defects. Most of the common birth defects are PKU,Down Syndrome and Sickle-Cell Disease, cystic fibrosis and so many more. PKU is an inherited metabolic disorder that occurs in 1 in 15,000 births. It's when the body is unable to process and uses a specific protein. The symptoms are missing a crucial enzyme …show more content…
A child with Down syndrome usually has characteristic physical features, including slanted eyes; small ears ; a small mouth, a flat noes; a short neck; and small hands with short fingers. Therapy special schooling and in some cases corrective surgery there is no treatment. Down syndrome is one of the most common genetic birth defects. About 1 in 700 (or 6,000) babies are born with Down syndrome each year in the United States. Sickle-Cell Disease is a very common birth defect. It is a hereditary blood disorder, caused by an abnormality in the oxygen-carrying protein found in red blood cells. It's most common in African Americans. In United States with an estimated population of over 270 million, about 1,000 babies are born with sickle cell disease each year. Detection amniocentesis or chorionic villus sampling can identify anemia in a fetus. There is no cure. Cystic fibrosis is a hereditary disorder that affects the respiratory and digestive system. The cause of cystic fibrosis is a inherited disease that is obtained by passing two defective recessive genes from the parents. There is no cure for cystic …show more content…
Most birth defects occur in the first 3 months of pregnancy, when the organs of the baby are forming. This is a very important stage of development. However, some birth defects occur later in pregnancy. During the last six months of pregnancy, the tissues and organs continue to grow and develop. For some birth defects, like fetal alcohol syndrome, we know the cause. But for most birth defects, we don’t know what causes them. For most birth defects, we think they are caused by a complex mix of factors. These factors include our genes (information inherited from our parents), our behaviors, and things in the environment. But, we don't fully understand how these factors might work together to cause birth defects. Not all birth defects can be prevented. But, there are things that a woman can do before and during pregnancy to increase her chance of having a healthy baby: Be sure to see your healthcare provider regularly and start prenatal care as soon as you think you might be
Cystic Fibrosis (CF) Pathophysiology: Cystic fibrosis is a genetic disease of the secretory glands that affects the respiratory and digestive system. It mainly affects the lungs, pancreas, liver, intestines, sinuses, and reproductive organs. Cystic fibrosis affects the cells that produce sweat, mucus, and digestive fluids. Mucus becomes thick and sticky, causing build-up in the lungs and blocking airways, making it easier for bacteria to develop. This prompts repeated lung infections and can cause severe lung damage after some time.
A big problem that is becoming of lawsuits is Wrongful Birth Cases. Wrongful birth by legal definition is a term to describe medical malpractice. A claim that the child would not have been born if medical malpractice did not occur (Knudsen, 2011). The legal definition of medical malpractice is also known as medical negligence, this is a professional negligence by act or omission by a health care provider which the treatment provided falls below the accepted standards of practice in the medical community and causes injury or death to the patient (Dictionary.com). In most cases, this is medical error. There is now 28 states that recognized wrongful birth claims. There is also 12 states that prohibit wrongful birth claims, including, Idaho, Utah, South Dakota, Minnesota, Oklahoma, Arkansas, Missouri, Kentucky, Michigan, Pennsylvania, North Carolina, and Georgia (Knudsen, 2011). A question that is always looked at is, What is the value of life to a parent? Does every child that is not “normal” not deserve a chance to live?
Globally there’s a 2 to 3 percent proportion of the infant population being born with congenital malformations. Congenital malformations, existing at birth are single or multiple defects in the body or organs identifiable at birth or during fetal development. Congenital heart defects (CHD) are the most frequent of congenital malformations. It is estimated that “eight in 1,000 newborns” are said to have congenital heart defects, an abnormal aliment of the heart and blood vessels surrounding the heart. A ventricular septal defect (VSD) accounts for 25-30 percent of all congenital heart defects, with 1 in 500 infants born with a VSD.
“About 13 of every 10,000 babies born in the United States each year is born with Down syndrome. It affects an equal number of male and female babies” (Johnson P. A. 2014). Down syndrome is a genetic disorder that found across the world, however it is more prevalent in the United States. The cause of the disorder roots to the paring of the human chromosomes. A normal human receives 23 pairs of chromosomes, each pair coming from mother and father. In Down syndrome most people affected have an abnormal cell division of the chromosome. Both parents are carriers of the There are three types of variations that includes trisomy 21, mosaic, and translocation.
When a mother finds out she is pregnant it is a wonderful experience. Most people are excited to see their first “picture” of their baby, the ultrasound. Even more exciting is getting an ultrasound to find out the sex of the baby. But ultrasounds are useful for more than just getting that first image of the fetus or finding out whether it is a boy or a girl. While it is something most parents dread finding out when pregnant, an ultrasound can also detect a birth defect. There are many different birth defects that can be detected by an ultrasound during pregnancy like Spina Bifida, Down syndrome, and abnormalities with the heart and lower urinary tract, and the importance of detecting them with an ultrasound is shown in the benefits of discovering the birth defect early, and the options it gives the parents after discovering the birth defect.
Cerebral Palsy cannot be prevented, but if pregnant health precautions can decrease chances of the infant to develop Cerebral Palsy. Having a healthy diet, proper use of
The cause of premature birth is often unknown. Any pregnant woman could experience preterm labor. Some women are at a higher risk for experiencing preterm labor. One known risk factor is having a previous preterm birth. Carrying more than one baby, such as twins, triplets, or more, is a risk factor for premature birth. Problems with the uterus or cervix can cause a woman to have a premature birth. African-American women are approximately fifty percent more likely to have a premature baby compared to Caucasian women. Chronic health problems, such as high blood pressure, diabetes, and blood clotting disorders are also risk factors for premature births. Certain infections, cigarette smoking, alcohol use, or illicit drug use during pregnancy can cause a woman to deliver a baby preterm. Women who are underweight and overweight before becoming pregnant are also at a risk for not carrying a baby full term (Siega, Adair, & Hoebl, 1996). Sometimes doctors need to deliver a baby before full term because of concerns for the mother’s health, as well as the baby’s health. ...
Preterm birth may be related to certain medical conditions, lifestyle factors, or demographic factors encountered by the mother or fetus.
One in every thirty-three babies is born with a handicap (“Data & Statistics”). The test for birth defects can be done during pregnancy or after the infant is born (“Data and Statistics”). In 2004-2005, the CDC counted 21 diseases as major birth defects (“Data and Statistics”). The list includes: “Central nervous system defects, Eye defects, Cardiovascular defects, Orofacial defects, Gastrointestinal defects, Musculoskeletal defects, and Chromosomal anomalies” (“Data and Statistics”). 20% of infant deaths are caused by birth defects making it the leading cause of all infant deaths (“Data & Statistics”). These defects can happen as a result of a failed abortion or during a pregnancy after an
a baby ranging from low birth weight and abnormalities to death. There are a few government
Health complications can occur during pregnancy with the woman or the fetus. During pregnancy, a woman can have an ectopic pregnancy, which is where the fetus develops outside of the uterus. While giving birth, a woman can risk her life if she encountered any difficulties. A fetus can develop birth defects, for instance, down syndrome, as well as diseases and infections. If a fetus’ has a life-threatening illness, a mother may decide to end the pregnancy so the baby does not have a painful life. However, a doctor may say the baby may have birth defects, but the baby can be born perfectly
A pregnant woman's lifestyle ultimately affects the development of her baby. Excessive exposure to alcohol during pregnancy can inflict serious, permanent physical and mental damage on her child. When a pregnant woman drinks alcohol she is making her child drink also. In knowing how Fetal Alcohol Syndrome can be prevented, what the symptoms are, and who and what make up the risk factors fetal alcohol syndrome can be better understood.
Down syndrome is a genetic disorder in which a person is born with an extra copy of chromosome 21. There are three genetic variations that cause Down syndrome: Trisomy 21, Mosaic Trisomy 21 or Translocation Trisomy 21. There are many ways in which theses disorders affect the body. Trisomy 21 occurs when an egg or sperm comes in with an extra copy of chromosome 21, then, once an embryo is formed and starts to develop, the chromosome is replicated in every single cell of the embryo. Trisomy 21 is the most common type of Down syndrome. About 92% of Down syndrome patients have this type. People with Trisomy usually have physical problems.
Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes.
During prenatal development, the mother's general health and age is very important. Nutrition, anxiety, and stress are a big part of the physical development during the prenatal stages. Referenced by Eysenck & Schoenthaler (1997) in our text, “A rapidly growing body of evidence reveals that when food sources are short on protein or essential vitamins and minerals during prenatal and early postnatal development, an infant’s physical, socio-emotional, and intellectual development can be compromised” (as cited by Broderick & Blewitt, 2010, p. 56).Genetic and chromosomal problems can begin at conception. Many disorders can be transmitted through the operation of dominant and recessive genes. Most recessive disorders are diagnosed in early childhood. Some genetic disorders include the following: sickle cell disease, hemophilia, night blindness, cystic fibrosis, extra fingers, high blood pressure, and huntington's disease. Chromosomal errors also effect the prenatal development stage. The most common is Down syndrome, in which a child has 3 copies of chromosome 21. The risk of bearing a child with this condition depends on the age of the mother.