Clinical Guidelines (Nursing)

Newborn bloodspot screening

  • Introduction

    Aim

    Definition of Terms

    Timing of the Test

    Responsibility

    Refusal of Consent

    Sampling

    Documentation

    Special Considerations

    Links

    Other Resources

    Evidence table

    Introduction

    Newborn bloodspot screening (NBS) (formally known as newborn screening testing) commenced in Victoria in 1966, when screening was introduced for Phenylketonuria. Since then, screening has expanded to testing for Congenital Hypothyroidism, Cystic Fibrosis, Phenylketonuria, and over 20 other rare conditions. These tests ensure early detection and treatment of these conditions.

    Aim

    This guideline provides an outline for medical and nursing staff to perform screening tests for newborn infants at the Royal Children's Hospital.

    Definition of Terms

    • Congenital Hypothyroidism
      Usually caused by an absence or improper functioning of the thyroid gland, resulting in reduced production of the thyroid hormone, thyroxine. Lack of this hormone leads to severe intellectual disability, deafness and growth problems. If detected early and treated with daily thyroxine supplements, the infant can grow and develop normally.
    • Cystic Fibrosis (CF)
      An inherited autosomal recessive condition. The mucous in the lungs and digestive system is thick and sticky resulting in respiratory infections and difficulties in digesting food properly. Early detection and treatment improves the health of the infant.
    • Phenylketonuria
      An inherited autosomal recessive condition. It is caused by an enzyme deficiency (phenylalanine hydroxylase) which results in the inability to convert phenylalanine to tyrosine. High levels of phenylalanine in the blood and tissues can damage the brain. If not identified and treated soon after birth, severe, progressive intellectual disability results. This condition can be treated with a diet low in phenylalanine which results in normal growth and development.
    • Other Rare Conditions
      Include; 3-hydroxy-3-methylglutaryl CoA lyase, 3-methylglutaryl CoA hydratase, Argininosuccinic aciduria, Citrullinaemia type 1, Beta ketothiolase, Maple syrup urine disease, Carnitine palmitoyl transferase 1, Carnitine palmitoyl transferase 2, Carnitine uptake defect, Carnitine-acyl carnitine translocase, Cobalamin disorders, Homocystinuria, Glutaric aciduria type 1, Holocarboxylase synthase, Isovaleryl CoA dehydrogenase, Medium-chain acyl CoA dehydrogenase, Methylmalonic acidaemia, Mitochodrial trifunctional protein, Multiple acyl CoA dehydrogenase, Propionic acidaemia, Tyrosinaemia 2, and Very long chain acyl CoA dehydrogenase. 
    • Palliated Infant
      Palliative care for children and young people with life-limiting conditions is an active and total approach to care, embracing physical, emotional, social and spiritual elements. It focuses on enhancement of quality of life for the child and support for the family and includes the management of distressing symptoms, provision of respite, and care through death and bereavement.
    • Blood Products
      Packed red blood cells/exchange transfusions, platelets, fresh frozen plasma, and albumin.
      Policy for Blood Transfusion - Fresh Blood Products policy and procedure.  
    • Extremely Low Birth Weight (ELBW)
      Birth weight < 1000 grams.
    • Very Low Birth Weight (VLBW)
      Birth weight < 1500 grams.

    Timing of the Test

    All newborn infants are screened regardless of gestational age, weight, feeding or health status between 48 and 72 hours of life. 

    Palliated infants: A sample should still be obtained on palliated infants. This may help to exclude diseases which may have implications for the family in future pregnancies. If the sample is taken after the infant dies, write in red on the screening card that it is a "post-mortem" or “peri-mortem” sample as there is a marked difference in the metabolic profile between a live and a deceased infant. 

    Blood Sampling Table

    Sample Patient Group Timeframe Considerations
    1st Sample All infants (including palliated infants)   48 - 72 hours If first sample is missed – collect as soon as this is recognised
    1st Sample Infants that receive blood products < 48 hours of age Obtain sample pre-transfusion (even if < 48 hours of age) Consider neonates going to OT
    2nd Sample Infants who have received blood products within the 1st 48-72 hours of life (before first NBS is completed) If 1st NBS is completed < 48 hours, then need to collect 2nd sample > 48 hours post last blood product Will require a 3rd sample
    2nd Sample Infants who have received an "in-utero blood transfusion"   Repeat sample 3 weeks after the 1st sample  
    2nd Sample ELBW 3 weeks (however if blood transfusion received after first sample, obtain repeat sample when there is a 3 week gap after receiving blood product) **  
    2nd Sample VLBW 2 weeks (however if blood transfusion received after first sample, obtain repeat sample when there is a 3 week gap after receiving blood product) **  
    3rd Sample Infants who have received blood products within the 1st 48-72 hours of life (before first NBS is completed) 3 weeks post last blood product **  

    ** If collection is delayed due to the infant receiving multiple transfusions, it is acceptable to delay repeat sample, however do not delay repeat collection for too long.

    • Birth weight < 1000 grams: repeat sample no later than 6 weeks of age
    • Birth weight 1000 grams-1500 grams: repeat sample no later than 4 weeks of age

    If recollection has been missed, collect sample as soon as this is recognised. 
    If in doubt or you have any queries in regards to timing of screening, contact the Newborn Bloodspot Screening Laboratory: Ext 16272.

    Responsibility

    Nursing staff on each shift are responsible for checking that screening is performed or has been performed on infants in their care.

    •   Nursing staff need to obtain written informed consent from a parent/guardian prior to performing the test.  

    Note: if parent/guardian not available to provide written consent - writing ‘verbal consent by phone’ is only acceptable with written explanation as to why no parent/guardian signature obtainable. Written or verbal consent is only applicable for the first card sample. For subsequent samples, parents should know it has been taken, but are not required to sign each subsequent card. 

    • Parent information leaflet (Newborn Bloodspot Screening – for the health of your baby) informs parents about the screening program and should be given to the parents and discussed prior to obtaining written consent. An interpreter may also be required if their language not available on the website.
    • The brochure, and the simplified version in 12 other languages is available on the Newborn Bloodspot Screening website. The information leaflet can also be obtained from VCGS (Victoria Clinical Genetic Service), 4th Floor East, Royal Children's Hospital.

    Ensure all details are filled out correctly on the newborn screening card including:
    • Date and time of birth
    • Gestation of birth
    • Current weight
    • Tick box if currently being breastfed or formula fed
    • Alternatively tick box if baby is receiving TPN nutrition at time of sample
    • Relevant clinical/family history – refers to the metabolic conditions we are testing for and if the baby has a past medical history of relevant conditions such as; meconium ileus, severe jaundice or maternal hypothyroidism. If the infant has received any blood products, this needs to be noted in the Relevant Clinical/Family History section on the newborn screen card.


    • Ensure all documentation has been filled out correctly (refer to 'Documentation' section of this guideline).


    Occasionally, stored newborn bloodspot screening cards get used for research. Some examples are the development of new tests or determining normal levels of a biomarker. This research is de-identified (i.e. no personal details are released to the researchers) and must be approved by an ethics committee. Parents can tick the “No Secondary Research Use” box if they do not wish their child’s card to be available for such research

    Refusal of Consent

    If parents refuse to have the test the following steps should be followed:

    • Confirm the parents/guardian have received the Newborn Bloodspot Screening information brochure (Newborn Bloodspot Screening - for the health of your baby), and that staff have discussed the test with them. 
    • A medical staff member of the treating team must then meet with the parents and clearly outline the benefits & risks of the NBS and the risks of not completing the test. This is to ensure the parents have a good understanding of the possible consequences. 
    • Medical staff should document clearly in the Progress Notes refusal of consent and the nature of the discussion. The refusal for consent form should be completed and countersigned by the parents.
    • The newborn screening card should be filled out with relevant infant details with ‘NO’ ticked on the Newborn Screening Consent section. 
    • The card can then be sent as normal to the laboratory. 
    • Document the refusal for the test in Child Health Record Book.  
    • Inform the parents/guardian that if the infant becomes unwell, they should inform their GP/paediatrician that their infant has not had a newborn screening test. 
    • Parents/guardian can change their mind at any stage but it should be explained to them that some disorders will not be detected if newborn screening is not performed at the correct time. 

    Parents/guardian must be offered the opportunity to meet with a newborn bloodspot screening counsellor (VCGS Call Center: 1300 118 247). Contact the newborn bloodspot screening counsellor as soon as possible.

    Sampling

    Collection
    Procedural Pain Management
    Arterial Sample
    • For arterial line sampling, ensure that the sample does not contain heparinised fluid. A discard of 2-3mls is recommended before using a new syringe to take the sample.
    Venous Sample
    • For venous sampling, refer to the blood sampling section of the RCH Policy Central Venous Access Device Management. Ensure that the sample does not contain heparinised fluid. A discard of 2-3mls is recommended before using a new syringe to take the sample.
    • A venous sample can also be collected via peripheral venous access. Refer to Intravenous Access – Peripheral for sampling technique.

      Documentation

       Record date and time of sample taken in:

      Electronic Medical Record (EMR)
      • Progress Notes – for Ward patients.
      • Flowsheets: NICU Shift Checks: Neonatal Screening Tests
        or ADT Navigators: Admission: Admission Information – for Butterfly/NICU patients.
      Child Health Record book (Green book) Under ‘Birth Details’ section.

      Special Considerations

      For more information about what happens after screening, please refer for the Newborn Bloodspot Screening Information for Parents brochure. 

      Links

      Other Resources

      Newborn Bloodspot Screening Laboratory
      Victorian Clinical Genetic Services
      Royal Children's Hospital, Parkville 3052
      Tel: (03) 8341 6272 Fax: (03) 8341 6398
      Email: screeninglab@vcgs.org.au

      Newborn Bloodspot Screening Nurse:

      Email: sally.morrissy@vcgs.org.au

      Phone: (03) 8341 6460

      Evidence Table

      Newborn Screening Evidence Table


      Please remember to  read the disclaimer.


      The development of this nursing guideline was coordinated by Lauren Cross, Registered Nurse/Midwife, Butterfly Ward, and approved by the Nursing Clinical Effectiveness Committee. Updated September 2019.