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, Congenital Adrenal Hyperplasia (CAH) and over 22 other rare conditions. These rare but serious conditions cannot be seen by just looking at the baby. These tests ensure early detection and treatment of these conditions to save lives. 

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

• 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.
  

Timing of the Test

All newborn infants are screened regardless of gestational age, weight, feeding or health status between 36 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

NBS flowchart - prem sick neonate v2.1 (vcgs.ninja)

****Blood product is now PRBC or whole blood transfusion or ECMO

Responsibility Prior to Collection

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.

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:

Step 1: When parents or guardians are unsure or choose to decline screening, engage them in further discussion to determine their concerns and ensure they have not been misinformed. The storage and access to cards after screening are secondary issues. If their concerns are about storage and access to screening cards, reassure them they are free to opt out of research use and are able to request their baby’s card back after 2 years. It is vital that these issues do not deter parents from having their baby screened.  

Step 2: Highlight the possible risks involved in not screening:

• It may lead to a delay in diagnosis and treatment of a serious medical condition.
• A delay in treatment could impair normal development and in rare cases, the condition may cause death.
• There are no alternatives to screening; by the time symptoms appear, development may already be affected.
  

Step 3: Offer to refer parents to a paediatrician or a newborn bloodspot screening counsellor, who will be able to further discuss any concerns. A newborn bloodspot screening counsellor can be contacted on 1300 118 247.

Step 4: If after discussion parents wish to decline screening, this decision must be respected. A parent is required to sign a written "decline of screening" form, indicating they understand the potential risks - this should be kept in the baby’s medical file, along with a description of the discussion that took place. Please ensure refusal is also documented in the baby’s maternal and child health record book.

You must also advise the family to seek medical attention if their baby is unwell and to tell the health-care provider the baby has not had newborn screening.

Step 5: Fill in a screening card as normal and have a parent sign that they are declining screening. Send this to the laboratory.

Sampling

Documentation

 Record date and time of sample taken in:

Sending Samples

• Samples should be airdried at the bedside for 4 hours
• Samples should then be placed in a paper envelope and sent immediately after drying directly to VCGS Specimen Reception or to RCH Specimen Reception (both via the pneumatic tube)
  
  • VCGS Specimen Reception – pneumatic tube #4 (send to this station between 0700-1700 only)
    
  • RCH Specimen Reception – pneumatic tube #2 (send to this station at all other times)

Special Considerations

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

Links

• Victorian Clinical Genetic Service: Newborn Bloodspot Screening
• Newborn Bloodspot Screening e- learning tool
• Newborn Bloodspot Screening Parent Information Video
• Newborn Bloodspot Screening Sample Collection Guidelines
• Newborn Bloodspot Screening Information for Parents
• Newborn Bloodspot Screening: Test and Specimen Requirements
• Human Genetics Society of Australasia
• Refusal of Consent for Newborn Bloodspot Screening PDF
• The Nature of CAH

Other Resources

RCH Newborn Screening Clinical Nurse Consultants
Noelle Giordano, Tabitha Hole, Mia Normoyle
Phone: (03) 9345 6244 or (03) 9345 6062

Newborn Bloodspot Screening Laboratory
Victorian Clinical Genetic Services
Royal Children's Hospital, Parkville 3052
Tel: (03) 8341 6272 Fax: (03) 8341 6339
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 January 2023.