Newborn Screening


Sunquest Code:NBSCR  
Epic Code:LAB4059Epic Name:NB Metabolic Screen
Synonyms:Congenital Adrenal Hyperplasia; Galactosemia, Screen; Hemoglobinopathy, Screen; Hypothyroidism, Screen; Inborn Errors of Metabolism Screen; Newborn Metabolic Screening; Phenylketonuria, Screen; PKU, Screen; Amino Acidemias; Acylcarnitine Screen; Biotinidase Screen; X-Linked Adrenoleukodystrophy Screen; Spinal Muscular Atrophy Screen
Methodology:Isoelectric focusing (hemoglobinopathies), fluoroimmunoassay (TSH/14-OHP), fluorescence (glactosemia), MS/MS (PKU acidemias, organic acidemias, fatty acid oxidation disorders), 2-step IRT-DNA (cystic fibrosis), colorimetric (biotinidase)
Test Includes:Test screens for congenital hypothyroidism, galactosemia, cystic fibrosis, hemoglobinopathies and congenital adrenal hyperplasia; selected amino acid metabolism disorders including PKU, organic acidemias, fatty acid oxidation disorders, Biotinidase deficiency, SCID/Primary T-cell lymphopenia; lysosomal disease profile, Spinal muscular atrophy.
Turnaround Time:Specimens are sent to reference laboratory Mon-Sat; results are reported within 7-10 days.
Special Instructions:Complete specimen form including requested information on baby and mother, attending physician name and phone number, and date of specimen collection. Store specimen forms in a cool, dry area; protect the collection surface. Return all ruined/unusable forms to the laboratory for return and credit from MDH. An MDH genetic counselor is available for consultation regarding screening results at 651-201-3548.
Associated Links:

MDH Newborn Screening


Collection Instructions

Specimen:Blood
Optimal Volume:0.5 mL to saturate five 13 mm circles on filter paper (MDH request/specimen form)
Minimum\Peds Volume:0.5 mL to saturate five 13 mm circles
Container:Filter paper
Collection Instructions:Apply blood from heelstick to (apply to one side only) filter paper until each circle is filled completely when viewed from the other side. Avoid repeated applications; allow circles to fill by natural flow. Do not use pipet or capillary device. Allow to air dry for three hours and transport to laboratory in an unsealed specimen transport bag. Do not expose to heat or moisture.
Patient Preparation:
    Recommended protocol:
  • Infants >2000g: Collect newborn screen at 24-48 hours of age. Collect on white cards only.
  • Infants ≤2000 g: Follow a three step process to collect at 24-48 hours of age. 14 days of age and 30 days of age. Collect on yellow cards or comment sent to MDH as the time of collection and age. Use the infant's birth weight (not current weight) on the follow-up specimens. If infant is discharged before the 14 or 30 day screens, collect a specimen on the day of discharge. Reviewing the results of multiple screens will provide a more accurate risk assessment for the infant. This reflexive rescreening protocol is likely to reduce both false positive and false negative results.


Collect prior to 24 hours:
  • If infant is discharged or transferred to a different hospital prior to 24 hours.
  • If infant requires blood transfusion.
  • If infant requires large saline infusion.
  • If infant requires surgery, ECMO, ECLS or another major procedure.
  • If infant is unlikely to survive the first 24 hours of life. Results from the screening tests may contribute to an understanding of the newborn's condition or provide important information to the parents that could benefit future children.


Collect additional sample if initial collection performed prior to 24 hours:
  • If infant is greater than 2000 grams: Collect at 24-48 hours of age.
  • If infant is less than or equal to 2000 grams: Collect at 14 and 30 days of age. May also collect at 24-48 hours of age per physician order.
  • If infant is transfused and a prior specimen was collected at <24 hours of age: Collect additional sample at 24-48 hours of age.


Collect additional sample:
  • If infant is transfused and a prior specimen was not collected: Collect additional samples at 24-48 hours of age and at 90 days after the last transfusion.
  • If infant is >2000 grams, is transfused, and a pre-transfusion specimen was collected at <24 hours of age: Collect additional samples at 24-48 hours of age and at 90 days after the last transfusion.
  • If infant never received an initial screen or initial screen cannot be verified: Collect as soon as possible.
  • If MDH Newborn Screening Program requests a repeat specimen: Collect as soon as possible.
   


Processing and Shipping

Specimen Processing:Store at room temperature.
Shipping Instructions:Ship at room temperature.
Test Performed at or Referral Lab Lab Sendouts  (Minnesota Department of Health)


Interpretive

Reference Range:

 

Acylcarnitine Profile Within normal limits
Amino Acid Profile Within normal limits
Biotinidase Within normal limits, >55 U
Congenital Adrenal Hyperplasia (17-OHP) Within normal limits, Weight dependent
Congenital Hypothyroidism (TSH) Within normal limits, Age dependent
Cystic Fibrosis Within normal limits, <96th percentile
Galactosemia Within normal limits, GALT >3.2 U/dL, TGAL <12 mg/dL
Hemoglobinopathy Hemoglobinopathy
Lyosomal Disease Profile Within normal limits, Enzyme activity present
Severe Combined Immunodeficiency (TREC) Within normal limits, TREC present
X-Linked Adrenoleukodystrophy Within normal limits, <0.16 umol/L C26.0:0-LPC
Spinal Muscular Atrophy Within normal limits, SMN1 present
 
Use:Minnesota newborns are tested soon after birth for more than 50 hidden, rare disorders. If left untreated, these disorders can lead to illness, physical disability, developmental delay or death. By identifying these disorders early, however, interventions, medication or changes in diet can help prevent most health problems caused by the disorders on the newborn screening panel. For additional information about the Minnesota Department of Health Newborn Screening Program, go to http://www.health.state.mn.us/divs/phl/newborn/index.html. See Associated Links.


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