Resources for midwives and nurses on the Newborn Bloodspot Screening Program

The aim of newborn bloodspot screening is early detection, diagnosis and treatment. The success of screening is largely dependent on the quality of the samples collected i.e. dried bloodspot samples taken at the correct time and in the correct manner. Rapid identification of potentially affected babies by screening leads to further diagnostic tests and early treatment.

The best practice is to take the sample between 48 and 72 hours of age. If the infant is discharged before 48 hours then arrangements need to be made to collect the sample later when the baby is 48 to 72 hours old. If there is any concern that this may not happen, or might be delayed, then collect a sample at discharge as well. False negative results may occur if the sample is taken too early.

Incorrect sampling may lead to a repeat test, which could cause a delayed or missed diagnosis. A delayed or missed diagnosis may have serious consequences, such as significant intellectual or physical disability, or life-threatening complications. It is critical that the sample is collected and transported correctly the first time to ensure the timely detection of screened conditions.

The WA Newborn Bloodspot Screening Program Specimen Collection Guidelines (PDF 939KB) outline the correct sampling process that must be followed when collecting a bloodspot sample from a baby in WA. These guidelines compliment the e-learning package and provide helpful instructions on how to correctly collect a bloodspot sample.

Before undertaking the collection procedure outlined in these guidelines, parents should have been provided information and consent obtained to undertake the sample collection according to local hospital policies and procedures.

Provide the information pamphlet Your Newborn Baby’s Screening Test (PDF 1MB) to parents prior to collection and ensure they understand the contents. Discuss the collection and testing with parents, obtain their consent, and complete all relevant documentation. Inform the parents that they will only be contacted if the test is positive or if another sample is required for technical reasons. Information that should be provided include:

• newborn bloodspot screening tests for around 25 serious medical conditions
• these conditions have treatments available that can prevent intellectual or physical disability, or life-threatening complications, if they are provided early in the newborn’s life
• most babies with these conditions seem healthy at first, the test helps detect the condition before it makes the baby sick
• most children with the conditions screened come from families with no previous history of the condition
• most babies who are diagnosed and treated early do well
• newborn bloodspot screening is free of charge
• it is not mandatory, it is strongly recommended.

The parent’s consent to sample collection and testing should be recorded in the medical record. It is also important to record the sample collection date and time, card number, and who collected the sample in the baby’s medical record/personal health record.

It is rare for a family to decline screening. If they do, it is important that the following steps are followed:

1. the importance of newborn bloodspot screening should be reiterated.
2. inform the parents of the risks if the baby does have one of the conditions that newborn bloodspot screening detects.
3. provide options for seeking further information from appropriate health professionals.
4. if the parents continue to decline consent to NBS, record the baby’s details on the bloodspot card and document the decline to consent in the medical records. The blood sample is NOT collected.
5. advise the family to seek medical advice if their baby is unwell. Tell them to make sure that they let the health professional know the bloodspot sample was not collected.
6. the bloodspot card, with only the baby’s details, is then sent to the screening laboratory. Write on the card the words “declined consent”.

If you are unsure about any of these steps, you should contact the laboratory using the details at the bottom of the page.

Once the bloodspot sample has been collected, place the completed card horizontally on a drying rack or non-absorbent surface, out of direct sunlight. Dry the bloodspot card for 4 hours. Any samples collected off-site can be dried on a storage rack within a cooler bag.

Mail or courier the sample cards on day of collection (or within 24 hours) to the WA Newborn Bloodspot Screening Program using the designated pre-addressed envelopes.

• If stacking several cards for mailing, then do not directly place one bloodspot on top of another as this can cause contamination; rotate each card in the stack to alternate the collection areas.
• Place the cards inside a protective paper cover before they are placed in the envelope.  These covers are provided with the envelopes.  If one is not readily available then wrap a sheet of clean white paper around the cards.  Ensure the bloodspots are completely covered.
• There is minimal risk of infection from dried-blood samples.  However, it is recommended that the sample cards be protected by a double layer of covering to ensure the samples remain sealed and well protected.
• There is no special handling required for newborn bloodspot screening samples from individuals with an infectious agent (e.g. COVID-19 or other) and the existing precautions with handling biological samples remain.
• The bloodspot sample should be completely air-dried and transported to the screening laboratory as usual and without delay.

When the screening laboratory receives an unacceptable sample it must request a second sample to ensure the reliability of the test results. Unsuitable or insufficient samples (e.g. 2 bloodspots instead of 3) potentially put a baby at risk, because it takes an additional 7-10 days to take and analyse a repeat sample. Midwives and nurses have a vital role to ensure reliable samples are collected.

Some of the common problems that arise if the correct sampling process is not followed include:

1. Not all bloodspots are collected on the card
   1. If all three bloodspots are not collected, there may be insufficient blood to complete testing.
   2. All three circles should be filled and soaked completely through the card.
2. Milking or squeezing the puncture site
   1. This may cause haemolysis and the mixing of tissue fluid with the blood.
   2. Apply gentle intermittent pressure to the area surrounding the puncture site when collecting the sample.
3. Layering of new blood over dried blood or applying successive drops of blood
   1. This causes non-uniform concentrations of blood and significantly impacts analysis.
   2. If blood flow diminishes, repeat the sampling technique and collect the blood in a new circle. Seek help if you are having any difficulties.
4. The sample was collected outside the correct timeframe.
   1. The newborn bloodspot screening test is most accurate when the sample is collected between 48–72 hours after birth.
   2. Check the baby’s records and confirm that the baby is due for the test before collecting the sample.
5. The sample is contaminated
   1. This may occur during collection, drying or mailing due to substances such as water, milk, talc, hand gel or urine. Contamination renders the result unreliable.
   2. Make sure you prepare yourself, the environment and the equipment appropriately and effectively before collecting the sample.
6. Inadequate or inappropriate drying
   1. If the bloodspot card is not fully dry, or dried inappropriately (due to direct sunlight, or excess heat or cold), the quality of the sample is affected.
   2. Dry the card for a minimum of 4 hours, keeping the cards separate and ensuring they are completely dry prior to mailing.

1. Hospital transfers

Babies may miss being screened when sick neonates are transferred from one hospital to another or when well neonates are transferred from a base hospital to a district or country hospital.  Responsibility must be taken by both hospitals to ensure that a sample is collected.  The hospital site of birth is to communicate the screening status of the baby at transfer and the receiving hospital must ensure that a sample is collected from the baby if and when required.

2. Early discharges

If the infant is discharged before 48 hours then arrangements need to be made to collect the sample later when the baby is 48 to 72 hours old. If there is any concern that this may not happen, or might be delayed, then collect a sample at discharge as well.

3. Homebirths

Babies born at home must be offered a screening test.

4. Other babies at risk of not being screened

Other “at risk” groups include babies of Aboriginal or culturally and linguistically diverse mothers, of mothers who had no antenatal care, of mothers who discharge early against medical advice, and of mothers affected by drugs or alcohol. Midwives and nurses should take extra care to ensure all babies are followed up who did not have a sample collected during their hospital stay.

5. Declined consent

If consent to bloodspot screening is declined, reiterate the importance of screening, inform the parents of the risks if the baby does have a condition, and provide options for seeking further information from appropriate health professionals. If they continue to decline, record the baby’s details on the bloodspot card and document in the medical record. Still send the incomplete card (without blood sample) to the screening program with the words “declined consent.” Advise the family to seek medical advice if their baby is unwell, including notifying the provider that bloodspot screening was not performed.

6. Feeding

A reliable sample can still be collected even if oral feeding has not started. However, the feeding status of the infant must be recorded on the card, so the laboratory can test accordingly.

7. Syringe samples

Samples can be applied to the card from a syringe if collected from arterial or venous lines, as long as the standard procedure for sampling from lines is followed. Avoid mixing the sample with anticoagulant (e.g. heparin or EDTA) as this may interfere with some screening tests.

8. Blood transfusions

A newborn bloodspot screening sample must be taken BEFORE any blood transfusion. If this does not occur, a sample should not be taken until at least 48 hours after the transfusion. If a blood transfusion has occurred, it is vital that this information is recorded on the card. 

9. Very-low-birthweight infants (≤1500g)

Immaturity of the hypothalamic-pituitary axis in very-low-birthweight and preterm infants may initially mask primary congenital hypothyroidism. It is therefore recommended that:

• Infants with a birthweight of 1500g or less should have the newborn screening test repeated routinely on Day 14.
• Infants with a birthweight of 1000g or less should have the test repeated again on Day 28.

Existing precautions regarding blood transfusion still apply when collecting these samples.

10. Screening for cystic fibrosis

The ability to detect infants with cystic fibrosis is helped if the screening program is notified of any newborn in whom cystic fibrosis is suspected clinically (eg. meconium ileus) or where there is a family history of the disorder in a sibling.  Record this additional information on the card.

11. Neonatal deaths

It is recommended that a sample is collected prior to any unexplained early neonatal death. Mark the card “neonatal death.”

12. Babies who present after the recommended timeframe

It may be relevant to screen babies who present after the recommended timeframe; for example, babies who were born overseas and newly arrived in Australia; or parents who change their consent. These babies may be referred to their GP or a Pathology service for sample collection up to one year of age. Contact PathWest for additional assistance if required.

Each hospital or neonatal or midwifery service must nominate a contact position responsible for administering the Newborn Bloodspot Screening Program and who is the point of contact for PathWest and responsible for:

• handling telephone calls and correspondence regarding the Newborn Bloodspot Screening Program
• checking fortnightly reports from PathWest to cross check and record all babies born under their care have been screened or declined consent for screening
• contacting PathWest if any baby’s name is missing from the list to check and record if a sample has been received
• organising any repeat collections when required
• reporting complaints about the Newborn Bloodspot Screening Program to PathWest.

Please report any changes in nominated contact position to wanbs@health.wa.gov.au