Newborn Metabolic Screening

Information, Authorization, and Waiver

The Newborn Metabolic Screening Test checks for 37 rare but serious conditions your baby could have. In all of these disorders
there are no symptoms at birth, and in most of them by the time you have symptoms severe, irreversible damage has been
done. However, if caught early, all can be treated to prevent the majority of the damage. There are three general types of
disorders tested on the Newborn Metabolic Screening Test. They are: Metabolic Disorders (where the body does not produce
an enzyme required by the body, and substances normally metabolized build up in dangerous, even lethal amounts), Endocrine
Disorders (where the baby does not produce certain hormones required by the body), and Hemoglobin Disorders (where the
body does not correctly construct the hemoglobin in red blood cells, thus affecting how oxygen is used by the body, whether
enough oxygen is usable by the body, or other problems). Four of the most common individual diseases found by this test are
described in the table below (remember these are just 4 of the 37 conditions tested for):

Disorder What causes the disorder? How often does What happens if it is not found and How is it
it occur? treated? treated?
Phynylketonuria The body cannot break down One in 15,000 Children become mentally retarded. A special diet
(PKU) certain parts of proteins (the newborns
(metabolic disorder) amino acid phenylalanine)
Galactosemia The body cannot break down a One in 50,000 Children become very sick (and A special diet.
(metabolic disorder) certain sugar (galactose) found in newborns may die). Mental retardation,
dairy products and breast milk cataracts, and liver damage can
occur in untreated infants.
Congenital The thyroid gland does not One in 5,000 Children become mentally retarded Supplement of
Hypothyroidism produce enough of a special newborns and growth is slow a pill (thyroxine)
(endocrine disorder) hormone (thyroxine)
Sickle Cell Anemia An inherited abnormality in the One in 3,000 Children could have a range of Sometimes
(hemoglobin structure of hemoglobin in red newborns problems; from mild anemia to a education,
disorder) blood cells affects the body's life-threatening crisis. sometimes
ability to utilize oxygen and may special care.
cause several other problems.

How and When The Test Should Be Performed:

The test is performed by pricking the heel of your baby and obtaining a small amount of blood which is put on a test card and
submitted to a state laboratory. The timing of the test is important. Before 24 hours of age parts of the test may not be
accurate. After 28 days damage to an affected child may already be occurring. The ideal time to perform the test is twice,
once between 24 and 48 hours of age, and again at 14 days of age. If only one test is done, the ideal timing is between 5 and
14 days of age.

Risks of Not Performing the Test:

The risks of not performing the tests are: 1) Your child may be affected by one or more of these conditions, and may suffer
the effects of the disorder(s) if not treated. These effects include brain damage, mental retardation, illness, and death.

Risks of Performing the Test:

The risks of performing the test are: 1) Anytime you break the skin, as you must with this test, there is a chance of infection.
This complication is rare, and the risk is minimized by using a sterile lancet and cleaning the skin before it is performed. In most
cases infections that do develop can be treated (usually with topical or oral antibiotics). 2) If the puncture is too deep and
nicks the heel bone, the resulting injury can develop gangrene and ultimately require amputation of the foot. This complication
is extremely rare, and is prevented by carefully selecting the site to be used, and using a lancet device that does not allow a
puncture deep enough to reach the bone. 3) We do not know what affect the pain caused by this procedure may have on a
newborn’s psychological development. 4) As with any test, the result can be a false positive (indicating your baby has one of
these conditions when in fact he or she does not) or a false negative (indicating your baby is fine when in fact he or she has one
of these conditions). A false positive will likely cause stress and worry to you, and would be dealt with by performing further
testing to confirm the result. You may be required to suspend breastfeeding and formula feed your baby while awaiting
confirmatory testing. A false negative would be devastating since no further testing would be done and the condition would
likely progress to symptoms before it were caught. In this case providers may delay investigation or diagnosis of one of these
conditions because you have a test result that says the baby does not have it. False positives are more common than false
negatives, and are particularly common in the summer (heat affects the test paper). 5) If your baby has an undiagnosed
bleeding disorder (for example, hemorrhagic disease of the newborn or hemophilia), bleeding from the puncture site may be

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profuse, or in rare cases, result in severe injury or death. A vitamin K injection at birth may reduce this risk, but does have risks
of its own.

What Happens If My Baby Tests Positive?

If your baby has an abnormal result, further testing is necessary to confirm the diagnosis. Additional testing does not
necessarily mean that your baby has one of these diseases. The provider identified on the screening form will be notified of the
abnormal results and s/he will notify you of the need for further testing. Normal test results are mailed to the provider who
performed the test.

If your baby is identified as having phenylketonuria (PKU) or galactosemia, you will be referred to the Metabolic Clinic. The
Metabolic Clinic provides diagnostic and consultative services for children and adults with PKU, galactosemia, and other
metabolic disorders. Evaluation and management services are provided by a team which included a pediatrician/geneticist,
nutritionist, psychologist, social worker, genetic counselor, nurse, and secretary. Other consultants, such as neurology,
opthamology, and speech and hearing specialists, are available if needed. The Metabolic Clinic staff helps coordinate efforts to
purchase special metabolic formulas and medications with pharmacies, the WIC Program and other community agencies when
needed. The Metabolic Clinic is administered by the Division of Medical Genetics, Department of Pediatrics, University of Utah
Medical Center. The clinics are held at Primary Children’s Medical Center. Call 801-585-2457 for more information. If your
baby has a hemoglobinopathy, you will be referred to the Hematology clinic. The hematology clinics are held at the Primary
Children's Medical Center.

Is This Test Required By Law?

Utah law states that all newborns must be tested (Utah code 26-10-6), however it also provides that parents may refuse the
test for religious reasons. As a provider of maternity care, BetterBirth, must require you to either authorize us to perform this
LLC

test on your baby, or refuse it in writing. Please read the following options and sign the one you select:

________ (Initial) I certify that I have read the preceding information regarding the Newborn Metabolic Screening test and that all
my questions have been answered to my satisfaction.

Test Refusal Test at Health Department Test Authorization

or other provider
‘ I understand that Utah law
‘ I prefer to have my baby tested at
‘ Knowing and understanding the
requires that each newborn infant risks of the Newborn Metabolic
undergo the Newborn Metabolic the Health Department or with my Screening test, I authorize my midwife
Screen. I understand that failure to child's physician rather than by my at BetterBirth, or her designee to
LLC

detect and treat any of these conditions maternity care provider, therefore I perform the test on my infant. I hereby
within the first two weeks of life can refuse it from BetterBirth . I hereby
LLC release and hold harmless the midwife,
result in the effects listed in this assume all responsibility for obtaining BetterBirth, , and all other related
LLC

document, which I have read and the test and release and hold harmless parties from the outcome of this
understood. BetterBirth,LLC it’s agents, and all other decision, except in the case of gross
related parties from the outcome of this negligence. I understand there is a fee
Knowing and understanding the risks, I decision. I understand that the test can for this procedure that is not included in
hereby refuse the Newborn Metabolic be obtained for a minimum fee at my my other maternity care fees. I
Screening test for my infant and local health department and I plan to understand that it is my responsibility
declare that I am a member of a religion have my baby tested within the to immediately notify BetterBirth, LLCif I
opposed to this test, or that I have recommended 14-day limit. change address or phone numbers
personal objections to newborn ________________________________ within 60 days of the test so that I can
screening. Signature be notified of the results.

I release and hold harmless BetterBirth LLC _______________________________ ________________________________

and it’s agents from the outcome of Date Signature
this decision.
_______________________________ _______________________________
________________________________ Witness Date
Signature
NOTE: If you want this test done by _______________________________
_______________________________ your physician, please contact him or Witness
Date her prior to the birth of the baby.
Some physicians will not do this test
_______________________________ for you, and all must special-order the
Witness test kit.

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