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Genetic testing

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Felix Rivera

on 15 November 2012

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Transcript of Genetic testing

Newborn Screening Presenters: Giselle Leon
Felix Rivera
Alexus Blake
Glynnis Alfaro Per.3 What is Newborn Screening? Babies are tested to identify serious or life threatening conditions before symptoms begin.
Most test use a few drops of blood from pricking the baby's heel. Pros & Cons You'll know if your baby will have any type of diseases
You'll be prepared for the future
A new report estimates that eight million children each year are born with serious disorders
New born screening lets you know if your child is a victim of autism Relative lab tests
The cost of screening may not be covered by your insurance
You should also consider the cost of retesting and the worry that parents have to go through if their child has a false positive New born screening program helps save twins' lives. Megan and Ricky Gonzales' girls were born in September, 2010. Megan had a normal pregnancy, and delivered healthy at 38 weeks. Both twins appeared lethargic and had trouble feeding. The twin girls had to stay in the hospital a few more days. As the babies condition got worse, results of the state's newborn blood screening program for genetic diseases came in showing that Sophia - and therefore probably Charlotte - had a rare, inherited and potentially fatal metabolic disorder called methylmalonic acidemia, which inhibits the body's ability to break down proteins and some fats.

"Without the screening program, the children probably would have gone into a coma, gotten sicker and may have died. They were walking a tightrope," said Dr. Gregory Enns, the twins' biochemical geneticist at Packard Children's, which is one of a few hospitals in the state that perform the tracking and follow-up of the newborn screening tests for all the babies born in the region. Definition Maple syrup urine disease (MSUD)
is an inherited disorder of amino acid
metabolism, caused by a deficiency
in an enzyme complex that
results in defects in the catabolism
of the amino acids leucine, isoleucine
and valine. Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins. Urine in persons with this condition can smell like maple syrup caused by a gene defect. Symptoms Symptoms can be within the first week of life, signs include poor feeding and vomiting. Additional findings can include lethargy, irritability, muscular rigidity, seizures and eventual metabolic decompensation leading to coma and death. There is a life-long risk for episodes of ketoacidosis, and hypoglycemia is common. Mental and neurological deficits are common findings among individuals with MSUD, especially in patients diagnosed after symptoms have developed. Newborn Screening Cost : for the illness amounted to $21,000 for every quality-adjusted life year that was gained. Should the state be able to mandate newborn screening or should we have privacy laws? Our group thinks it should be mandated because it's not harmful and it can really help save your baby's life.

All babies are screened, even if they look healthy, because some medical conditions cannot be seen by just looking at the baby. Finding these conditions soon after birth can help prevent some serious problems, such as brain damage, organ damage, and even death. Inheritance Pattern MSUD is inherited in an autosomal recessive pattern. As an autosomal recessive disorder, the parents of a child with one of these conditions are unaffected, healthy carriers of the condition, and have one normal gene and one abnormal gene. With each pregnancy, carrier parents have a 25 percent chance of having a child with two copies of the abnormal gene, resulting in MSUD. Carrier parents have a 50 percent chance of having a child who is an unaffected carrier, and a 25 percent chance of having an unaffected, non-carrier child. These risks would hold true for each pregnancy. All siblings of infants diagnosed with MSUD should be tested; and genetic counseling services should be offered to the family. genetic testings Hearing Screening Hearing screening is a short test to tell if people might have hearing loss. Hearing screening is easy and not painful. In fact, babies are often asleep while being screened. All babies should be screened for hearing loss no later than 1 month of age. It is best if they are screened before leaving the hospital after birth. Hemophilia: A genetic blood disease that causes the blood to be unable to form a firm clot normally and quickly.Leukemia: Often referred to as cancer of the blood, a malignant condition affecting the immature blood-forming cells in the bone marrow.Sickle Cell Anemia: A hereditary blood disease resulting from a single amino acid mutation of the red blood cells. Blood testing Example Bush Signs Bill To Take All Newborns' DNA
(Published in 2008) Signed into law a bill which would see the federal government begin to screen the DNA of all newborn babies in the U.S. within six months.
Described as a "national contingency plan" (The Newborn Screening Saves Lives Act of 2007). It represents preparation for any sort of "public health emergency."
Bill states that the federal government should "continue to carry out, coordinate, and expand research in newborn screening to maintain a central clearinghouse of current information on newborn screening..."
Sections of the bill say that DNA may be used in genetic experiments and tests. Exit Slip: 1. What is newborn screening?
2. Name one of the tests associated with newborn screening.
3.What's the cost of newborn screening?
4.What does MSUD stand for?
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