Newborn Screening for Inborn Errors of Metabolism
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Questions and Answers

What is the primary purpose of screening newborns?

  • To determine the infant's blood type
  • To administer vaccinations
  • To monitor the infant's vital signs
  • To detect genetic, metabolic, and infectious diseases and disorders (correct)

    • What is the maximum age of a newborn when the initial blood specimen can be collected?

  • 72 hours (correct)
  • 1 week
  • 24 hours
  • 48 hours

    • What is the next step if the initial specimen is obtained before the newborn is 24 hours old?

  • Repeat the test immediately
  • Report the results as final
  • Obtain a second specimen up to 2 weeks of age (correct)
  • Discard the specimen

    • Which of the following conditions is NOT screened for in newborns?

    <p>Hypertension</p> Signup and view all the answers

    What is the purpose of the absorbent areas on the filter paper?

    <p>To absorb the blood specimen</p> Signup and view all the answers

    Why should the filter paper not be touched, even with gloved hands?

    <p>To prevent contamination</p> Signup and view all the answers

    What is the method of collection for newborn screenings?

    <p>Capillary puncture on the infant's heel</p> Signup and view all the answers

    Why is it essential to include the parent's or guardian's phone number on the form?

    <p>To notify the parent or guardian of positive results</p> Signup and view all the answers

    What should be done if the test results are positive?

    <p>Notify the parent or guardian immediately</p> Signup and view all the answers

    What is the importance of ensuring the paperwork or card is filled out completely?

    <p>To maintain accurate patient records</p> Signup and view all the answers

    Why is it necessary to warm the infant's heel before collecting blood?

    <p>To increase blood flow</p> Signup and view all the answers

    What should be done with the first drop of blood after puncturing the heel?

    <p>Wipe it off</p> Signup and view all the answers

    What is the purpose of allowing a large blood droplet to form at the puncture site?

    <p>To increase the chances of collecting a sufficient sample</p> Signup and view all the answers

    Why should capillary tubes not be used for collecting blood?

    <p>They can cause the filter paper to become rough</p> Signup and view all the answers

    How should the blood spots be dried after collection?

    <p>By air-drying them at room temperature</p> Signup and view all the answers

    Why should wet filter papers not touch each other?

    <p>They are sticky and will adhere to each other</p> Signup and view all the answers

    What should be done with the completed collection cards?

    <p>Mail them to the state laboratory for testing</p> Signup and view all the answers

    What is the consequence of not allowing the blood spots to dry thoroughly?

    <p>The specimen may be rejected</p> Signup and view all the answers

    Why is it important to avoid blotting or attempting to color in the circle with several blood drops?

    <p>It may cause serum rings to form</p> Signup and view all the answers

    What should be done if an infant tests positive for a condition?

    <p>Submit the collection card immediately</p> Signup and view all the answers

    The infant's heel should be cleansed with an antibiotic before collecting blood.

    <p>False</p> Signup and view all the answers

    A semi-automated lancet device is used to puncture the infant's heel no deeper than 3 mm.

    <p>False</p> Signup and view all the answers

    Capillary tubes can be used to collect blood for newborn screening.

    <p>False</p> Signup and view all the answers

    The filter paper should be touched to the drop of blood several times to ensure thorough saturation.

    <p>False</p> Signup and view all the answers

    Completed collection cards should be mailed to the state laboratories within 7 days of collection.

    <p>False</p> Signup and view all the answers

    Newborn screenings are required by federal law in the U.S.

    <p>False</p> Signup and view all the answers

    Biotinidase deficiency is a genetic disorder that can be detected through newborn screening.

    <p>True</p> Signup and view all the answers

    The blood-spot testing for newborn screenings is typically performed after the newborn is 72 hours old.

    <p>False</p> Signup and view all the answers

    Toxoplasmosis is an infectious disease that can be detected through newborn screening.

    <p>True</p> Signup and view all the answers

    The absorbent areas on the filter paper can expire if not used within a certain timeframe.

    <p>True</p> Signup and view all the answers

    Study Notes

    Newborn Screenings

    • Newborns in the U.S. are screened for genetic, metabolic, and infectious diseases and disorders through blood-spot testing
    • Screening aids in early detection, diagnosis, and treatment of conditions like cystic fibrosis, hypothyroidism, phenylketonuria (PKU), galactosemia, and other genetic disorders

    Blood-Spot Testing

    • Blood-spot testing is performed before the newborn is 72 hours old; if the specimen is obtained before 24 hours old, a second specimen should be obtained for screening up to 2 weeks of age
    • Blood samples are collected onto specific forms or cards with absorbent areas called filter paper
    • It is essential to fill out the forms completely in ink with all required information and check for expiration dates

    Collection Procedure

    • To perform a heel stick on an infant, the following procedures must be followed:
      • Properly identify the infant
      • Ensure that the paperwork or card is filled out completely, including parent's/guardian's phone number
      • Avoid touching the filter paper part to prevent contamination
      • Wash hands and don gloves
      • Check the temperature of the infant's heel and warm it if necessary
      • Cleanse the infant's heel with an antiseptic and allow the skin to dry
      • Puncture the heel with a semi-automated lancet device no deeper than 2 mm
      • Wipe off the first drop of blood
      • Allow a large blood droplet to form at the puncture site
      • Touch the filter paper to the drop of blood to soak through completely in each circle
    • Important considerations during collection:
      • Avoid using capillary tubes as they can make the filter paper rough and cause overabsorption
      • Do not blot or attempt to color in the circle with several blood drops, as it can cause serum rings and alter test results
      • Air-dry the blood spots thoroughly for 3 hours at room temperature, away from direct sunlight and heat

    Submission and Rejection Criteria

    • Completed collection cards should be mailed to the appropriate state laboratories for testing with all required paperwork
    • Specimens can be unusable and rejected if:
      • A circle is oversaturated
      • All circles are not completely filled
      • An expired form is used
      • The form is not received within 14 days of collection
      • The specimen is contaminated with a foreign substance
      • The specimen is not allowed to dry thoroughly
      • The circles have serum rings

    Newborn Screenings

    • Newborns in the U.S. are screened for genetic, metabolic, and infectious diseases and disorders through blood-spot testing
    • Screening aids in early detection, diagnosis, and treatment of conditions like cystic fibrosis, hypothyroidism, phenylketonuria (PKU), galactosemia, and other genetic disorders

    Blood-Spot Testing

    • Blood-spot testing is performed before the newborn is 72 hours old; if the specimen is obtained before 24 hours old, a second specimen should be obtained for screening up to 2 weeks of age
    • Blood samples are collected onto specific forms or cards with absorbent areas called filter paper
    • It is essential to fill out the forms completely in ink with all required information and check for expiration dates

    Collection Procedure

    • To perform a heel stick on an infant, the following procedures must be followed:
      • Properly identify the infant
      • Ensure that the paperwork or card is filled out completely, including parent's/guardian's phone number
      • Avoid touching the filter paper part to prevent contamination
      • Wash hands and don gloves
      • Check the temperature of the infant's heel and warm it if necessary
      • Cleanse the infant's heel with an antiseptic and allow the skin to dry
      • Puncture the heel with a semi-automated lancet device no deeper than 2 mm
      • Wipe off the first drop of blood
      • Allow a large blood droplet to form at the puncture site
      • Touch the filter paper to the drop of blood to soak through completely in each circle
    • Important considerations during collection:
      • Avoid using capillary tubes as they can make the filter paper rough and cause overabsorption
      • Do not blot or attempt to color in the circle with several blood drops, as it can cause serum rings and alter test results
      • Air-dry the blood spots thoroughly for 3 hours at room temperature, away from direct sunlight and heat

    Submission and Rejection Criteria

    • Completed collection cards should be mailed to the appropriate state laboratories for testing with all required paperwork
    • Specimens can be unusable and rejected if:
      • A circle is oversaturated
      • All circles are not completely filled
      • An expired form is used
      • The form is not received within 14 days of collection
      • The specimen is contaminated with a foreign substance
      • The specimen is not allowed to dry thoroughly
      • The circles have serum rings

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    c5-INBORN ERRORS OF METABOLISM.docx

    Description

    Learn about the importance of newborn screening for inborn errors of metabolism, a routine test in the US to detect genetic and metabolic defects. This quiz covers the process and timing of blood-spot testing.

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