Frequently Asked Questions
Newborn Blood Spot Screening
What is a Newborn Blood-Spot Screen?
Why should my baby have the screening?
What conditions are currently screened in Missouri?
Are Newborn Screens required in Missouri?
How is the Screening done?
How are the screening results reported and to whom?
How do I find out about my baby's results?
If I get notified that my baby needs to have the screening
repeated does it mean my baby has one of these five conditions?
What is Expanded Newborn Screening?
How can I get the Expanded Newborn Screening done?
What is the cost of Expanded Newborn Screening?
Will I be told of the results?
Can these disorders be cured?
What is a Newborn Blood-Spot Screen?
A newborn blood-spot screen refers to tests performed on newborns
before they are discharged from the hospital. These tests are done
to protect them from the serious effects of conditions that otherwise
may not be detected for several days, months, or even years. A screening
test only finds those babies who may be at risk for a disorder.
Only additional testing (diagnostic testing) can tell if the baby
really has the disorder.
Why should my baby have the screening?
The conditions for which your baby will be tested for are rare.
However, they are also very serious and can result in mental retardation
and/or death if not treated. Babies with these conditions appear
normal at birth. It is only with time the condition affects the
baby's mental or physical development or causes other medical problems.
By then the damage may be permanent. The newborn screen helps to
identify the babies needing treatment, such as a special diet or
medication. Only additional testing (diagnostic testing) can tell
if the baby really has the disorder.
However, screening tests are not always accurate and may not always
detect a disorder. In any case, if your baby does not seem well,
talk to your baby's doctor as soon as possible.
What conditions are currently screened
in the Missouri?
In Missouri all newborns are screened for the following metabolic
or genetic conditions:
- Congenital adrenal hyperplasia (CAH) (con-JEN-I-tal
ah-DREE-nal HIGH-per PLAY-ze-ah) - A condition that affects
the adrenal glands, which are located on top of the kidneys.
These glands produce three types of hormones called cortisol,
aldosterone and androgens. Females with classical CAH are born
with masculine appearing external genitals, but with female
internal sex organs. Males with classical CAH appear normal
at birth. Males and females with classical CAH are likely to
have trouble retaining salt, a condition which can be life threatening.
Treatment for CAH is life-long.
- Congenital hypothyroidism (CH)
(con-JEN-I-tal HIGH-poe-THIGH-royd-ism) - Occurs when a baby
does not have enough thyroid hormone. Without an adequate
amount of thyroid hormone the baby may not develop normally,
which can result in mental retardation and stunted growth. Treatment
for these babies consists of medication needed for the rest
of their lives.
- Galactosemia (Guh-LAK-toe-SEE-me-ah)
- Occurs when a baby is not able to digest one of the sugars
(galactose) in breast and cow's milk and baby formula. Without
treatment of a special diet, the sugar builds up in the
baby's blood causing liver damage, cataracts, mental retardation
and possible death. Treatment consists of a special diet
that eliminates galactose, a sugar found in milk and milk products
from the baby's diet.
- Phenylketonuria (PKU)
(FEE-nil-Kee-tone-u-ree-ah) - The baby is unable to use
one part of the protein found in most foods. This protein
builds up in the blood and may prevent the brain from
developing normally. If left untreated, PKU causes mental retardation.
Treatment consists of a special diet (low in protein)
to be followed for life.
- Sickle cell anemia and unusual
hemoglobin types (SICK-cul cell A-NEE-me-AH) - Is
found mainly in African Americans and those of Mediterranean
background. In sickle cell anemia, the red blood cells change
from the normal round shape to an abnormal sickle shape. These
sickle cells can clog blood vessels so not enough oxygen can
be carried to the body. Treatment consists of the child being
under the care of a health care provider early in life for
medication and other treatment.
- Amino Acid Disorders
Babies born with one of these disorders cannot breakdown certain waste products
from their blood, such as amino acids or ammonia. This can lead to problems
with the eyes, skin or general development, liver failure, coma or death if
untreated. Treatment can range from special diets to liver transplantation
and special medications. A baby with an amino acid disorder must have regular
medical care by an experienced physician. The Newborn Screening Program will
screen for:
Fatty Acid Oxidation Disorders
Babies born with one of these disorders have trouble burning fat for energy.
This can lead to vomiting, low blood sugar or more serious problems such as
coma or death if untreated. Treatment depends on the disorder that a baby has,
but may include a special diet and medication. A baby with a fatty acid oxidation
disorder must have regular medical care by an experienced physician. The Newborn
Screening Program will screen for:
Organic Acid Disorders
A baby with one of these
disorders cannot remove certain waste products from their blood.
Without treatment, the buildup of these waste products causes serious
medical problems affecting the baby's health and development, including
seizures, coma and brain damage. Treatment depends on the disorder,
but may include special diets, supplements and medications. A baby
with an organic acid disorder must have regular medical care by
an experienced physician. The Newborn Screening Program will screen
for:
Are Newborn Screens required in Missouri?
Yes, state law RSMo 191.331 requires all newborns born in Missouri
to be screened.
A parent may decline due to religious grounds. These grounds must
be stated in writing and the written objection filed with the attending
physician, certified nurse, midwife, public health facility or hospital.
A copy of the written objection will be sent to the Department of
Health and Senior Services.
How is the Screening
done?
The newborn's heel is pricked and a few drops of blood are put on
a special filter paper. This is done before your baby is discharged
from the hospital. The filter paper is mailed to the Missouri State
Public Health Laboratory, Newborn Screening Unit.
If your baby is born at home, you need to make an appointment with
your baby's doctor to have a newborn blood-spot screening test.
Preferably, this test should be done at about 48 -72 hours of birth.
How are the screening results reported
and to whom?
The test results are reported by the Newborn Screening Unit, by
mail, two to three weeks after the filter paper sample was received,
to both the doctor who saw your baby while in the hospital and to
the hospital where your baby was born. It is very important that
the hospital and the doctor have the parent's correct last name,
telephone number, and address, in case a repeat newborn screen is
needed. Infants with unclear or abnormal results need to be rescreened.
If the rescreen (second newborn screen) is abnormal, the infant
will need to have a diagnostic test done. If the repeat newborn
screen indicates that further evaluation is needed, the Newborn
Screening Unit will contact the doctor who saw the baby in the hospital,
immediately.
If you don't have a telephone, it would be helpful to leave the
phone number of a neighbor or relative with the doctor or hospital.
You can also help by notifying your baby's doctor if you move after
the baby is born, then if your baby should need to be retested,
your baby's doctor will know where to reach you. Remember, time
is very important.
If your baby's doctor is someone other than the physician at the
hospital, then your current physician will not have a copy of the
baby's newborn screen result. It is important that parents tell
hospital staff, who will be providing care to their baby when the
baby is discharged from the hospital.
How do I find out about my baby's results?
Your doctor should go over the results of your baby's newborn screening
results with you during a well baby visit. If not, please ask.
If I get notified that my baby needs to
have the screening repeated does it mean my baby has one of these
five conditions?
Not always. There are several reasons why your baby's doctor or
the hospital may tell you that your baby needs to be retested. Some
reasons include:
Unsatisfactory specimen: The filter paper sample
cannot be tested because: there was not enough blood to complete
all the required screening tests, there was too much blood on the
sample, liquid was spilled on the sample, or due to other reasons.
"Too Early" specimen: If the blood specimen was
collected before the baby was 24 hours old, a repeat newborn screen
should be done as soon as possible to avoid missing a disorder.
Abnormal: An abnormal test result means that
a disorder may be present. If the repeat newborn screen indicates
that further evaluation is needed, the Newborn Screening Unit will
call the doctor right away.
Note: Premature or low birth weight newborns are
more likely to have out of the expected range test results on the
first specimen, even if a disorder is not present.
Again, if your baby needs a repeat newborn screen or a diagnostic
test, it is important that you follow through with the doctor or
hospitals' recommendations for additional screening or testing.
This will help to avoid missing a disorder.
What is Expanded Newborn Screening?
Missouri has expanded its newborn screening coverage with the addition
of the following disorders:
Amino Acid Disorders:
- Argininosuccinic aciduria (ASA)
- Citrullinemia (CIT)
- Homocystinuria (HCY)
- Hypermethioninemia (MET)
- Maple syrup urine disease (MSUD)
- Tyrosinemias, (TYR-I, TYR-II)
Fatty Acid Oxidation Disorders
- Carnitine/acylcarnitine translocase defect (LCAT)
- Carnitine palmitoyl transferase deficiency (CPT II)
- Long-chain hydroxy acyl-CoA dehydrogenase deficiency
(LCHAD)
- Medium-chain acyl-CoA dehydrogenase deficiency
(MCAD)
- Multiple acyl-CoA dehydrogenase deficiency (MAD)
or (GA-II)
- Short-chain acyl-CoA dehydrogenase deficiency
(SCAD)
- Trifunctional protein deficiency (TFP)
- Very long-chain acyl-CoA dehydrogenase deficiency
(VLCAD)
Organic Acid Disorders
- Glutaric academia, type I (GA-I)
- Isovaleric acidemia (IVA)
- Methylmalonics acidemia (MUT, Cb1A, B
- Propionic acidemia (PROP)
- 3-hydroxy-isovaleryl disorders (3MCC, HMG, BKT, MCD)
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
(HMG)
Currently, the Missouri Newborn Bloodspot Screening Program does
not screen for biotinadase and cystic fibrosis (CF). Parents who
would like to have their infant screened for these conditions by
the Newborn Screening Program, can contact a private laboratory.
Provision of the following private laboratories is for informational
purposes only, and does not necessarily include all private laboratories
doing expanded newborn screening, and does not imply endorsement
by the DHSS.
Some private laboratories that offer expanded newborn screening
do not have the capability to screen for congenital hypothyroidism,
galacotsemia, hemoglobinopathies and congenital adrenal hyperplasia.
You must decide if you want your baby to have these additional
tests.
An expanded newborn screening kit may be purchased at your own expense from
certain private laboratories. The cost of the kit depends on the private laboratory.
Some
hospitals offer expanded newborn screening. Please check to see if the hospital
where you will be delivering already offers expanded newborn screening.
How can I get the Expanded Newborn Screening done?
Contact one of the private laboratories listed below to obtain
a parent packet, which contains a screening kit and information
for you and your baby's doctor. The screening kit should be obtained
prior to delivery and taken to the hospital with you. Each of these
laboratories can provide screening, regardless of where you live.
Provision of laboratory names is for informational purposes only,
does not necessarily include all laboratories doing expanded newborn
screening, and does not imply endorsement by the Department of
Health and Senior Services.
Baylor Medical Center Institute of Metabolic
Disease: 1-800-422-9567
Mayo Medical Laboratories: 1-800-533-1710
Pediatrix Screening: 1-866-463-6436
University of Colorado Health Sciences Center
Biochemical Genetics Laboratory: 1-303-724-3826
Simply give the kit to your
baby's doctor before or after delivery and let them know you
would like to have an extra blood sample drawn at the time of your
baby's routine newborn screening. Then, when the baby's routine
heel-stick is performed, a few extra drops of blood will be applied
to the expanded newborn screening test.
What is the cost of Expanded Newborn Screening?
The fee for expanded newborn screening depends upon the private
laboratory you chose and which tests are performed. Additional tests might be
indicated if a problem is found on the initial supplemental screening. The costs
of these confirmatory tests is often much higher than the initial screening fee.
Will I be told of the results?
Yes, the private laboratory will inform you about the results.
Can these disorders be cured?
At this time there is no known cure for these disorders. The serious effects
of many of the disorders can be lessened if a special diet, medical treatment,
or other intervention is started early.
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