Metabolic Screening Samples in Newborn Infants

Reviewed by Dr Callum Wilson (Metabolic Service, Starship Hospital) and Dr Dianne Webster (National Testing Centre)

November
2006

Introduction	Associated Documents	Newborn Screening	Timing of Test
Informed Consent	Process - Postnatal Period	Newborn Service Metabolic Screening	Forwarding of Cards to the National Testing Centre
Obtaining a Blood Sample	Follow-Up of Test Results	National Testing Centre Contact Details	Parent Information Sheet

For infants with suspected metabolic problems, Dr Callum Wilson should be contacted via Starship Hospital.

Introduction

Purpose

To ensure that appropriate consent is obtained for metabolic screening in the newborn, and that the correct procedure is followed to obtain blood for testing.

Associated Documents

The table below indicates other documents associated with this process.

Type	Document Title(s)
Board Policy Manual	Informed Consent Infection Control Manual
Hospital Policy	N/A
Leaflet	Your Newborn Baby’s Blood Test

Newborn Baby Metabolic Screening

There are a number of disorders the newborn is screened for from the newborn metabolic screening test, commonly known as the "Guthrie test".

The conditions screened for are:

Congenital hypothyroidism (CH)

Cystic fibrosis (CF)

Congenital adrenal hyperplasia (CAH)

Galactosaemia

Phenylketonuria

Fatty acid oxidation disorders including MCAD

Some organic acidopathies (e.g. methymalonic acidaemia)

Some amino acidopathies ( e.g. MSUD, homocystinuria, and some urea cycle disorders)

For the purpose of this policy the "Guthrie test" reference will encompass all the tests associated with Newborn Baby Metabolic screening testing undertaken at the National Testing Centre.

Timing of Test

The National Testing Centre advise that all Guthrie tests are to be taken 48 hours.
Samples should be taken as soon as possible after this time as some of the conditions - if untreated - can kill babies in the neonatal period.
Sensitivity of screening for some disorders is reduced is screening is delayed.

Informed Consent – Policy Statements

It is necessary to gain informed consent from mothers/legal guardian of all infants undergoing the screening test (Health and Disability Code of Consumer’s Rights. Right 7 – Right to Make an Informed Choice and Give Informed Consent).
Informed consent must be gained for the test itself, follow up and for the sampling at the time the sample is taken.

Informed Consent

Information to be provided consists of three parts:

Sampling of blood, the method and reasons for;
An explanation of why the sample is held in perpetuity; (this is for quality assurance testing should a child be later found to have one of the conditions tested for), and
Information regarding return of the specimen following receipt of a written request from the mother/legal guardian. A form for this can be downloaded here.

Consent will be documented on the Delivery Summary or in Newborn Services in the baby’s clinical record.
Testing is only undertaken where written evidence of consent has been ascertained.

Lead Maternity Carer Responsibilities - Antenatal	Lead Maternity Carers (LMC) are responsible for discussing and documenting the woman’s decision in regard to newborn screening during the antenatal period. At this time the leaflet produced by the National Testing Centre, title “Your Newborn Baby’s Blood Test” is given to the women and discussed.
Phlebotomists	Phlebotomists will not take blood for the screening test unless consent has been clearly documented.

Process - Postnatal Period

Lead Maternity Carer Responsibility	The LMC completes the Newborn Record (S291) and documents acknowledgement of informed consent using the space provided on page 2 at the bottom left of the chart. The LMC’s plan of care will be with the woman at time of admission to the delivery suite for reference if required.
Admitting Office Responsibility	The admitting office issues the registration details for the infant and attaches the test card to the registration sheet. Admitting undertake the distribution of Guthrie test cards to ensure all infants born at National Women’s Hospital receive a test card prior to discharge.
Ward Clerk Responsibility	The ward clerk checks the Newborn record (S291) for Guthrie testing consent and places the request card on the clip. The Midwife / Phlebotomist ensures the blood test is undertaken within the required time frame. If the acknowledgement of consent is not evident from the Newborn record the ward clerk approaches the midwife caring for the infant. The midwife refers to the plan of care or discusses the issue of consent with the LMC. The LMC’s name and registration number must be clearly documented.
Midwife Responsibility	If the Midwife caring for the infant is undertaking the Guthrie testing it is their responsibility to ensure that consent for taking the sample is obtained from the mother prior to undertaking the procedure. On completion of testing the midwife documents in the infant’s records the procedure has been undertaken with parental consent. The LMC’s name and registration number must be clearly documented.
Responsibility for Consent	Prior to undertaking the testing procedure the staff member undertaking the test must also ensure that verbal consent is obtained from the mother prior to approaching the infant to take the sample. If no consent is obtained, please return the Guthrie card with full demographic documentation and write "Family fully informed, declined test" and send to the National Testing Centre.

Newborn Service Metabolic Screening

Within the Newborn Service where the LMC may not yet have discussed testing and/or antenatal records may not be available, medical/senior nursing staff will undertake to discuss testing and undertake discussion with parents and document action accordingly.
For babies in NICU and PIN a Guthrie card should be put on the incubator by the Ward Clerk and blood collected 48 hours after birth on all infants regardless of feeding regime and health status.
- If this is not done conditions such as congenital hypothyroidism will have a delayed diagnosis and treatment.
- If the baby is not tolerating full feeds, this first sample should be labelled stating, "Baby is not fully orally feed".
The Nurse is responsible for documenting the collection of the blood sample in the chart of the baby.
The National Testing Centre will send a report of the original sample with a further sample card and reminder for the retest. This is important because they are then able to link subsequent samples with the original one.
When these infants are taking full oral feeds for 48 hours, this further sample should be taken and sent to the National Testing Centre.

Forwarding of Cards to National Testing Centre

Cards should be dried and mailed promptly each day to minimise delays in delivery and testing of samples.
From National Women's the cards should be forwarded in the internal mail addressed to ‘National Testing Centre, Labplus, Building 31, Grafton Site’.

Obtaining a Blood Sample

Process

Follow the steps below to obtain a blood sample for newborn baby metabolic screening test.

Stage	Description
1	Obtain informed consent from parent(s)/caregiver and document in Clinical Record.
2	Do not touch the specimen collection paper (circles).
3	Fill out all requested information on test card.
4	Ensure the mother or other caregiver has seen the Fact Sheet “Your Newborn Baby’s Blood Test”.
5	Warm foot if necessary.
6	Sterilise the puncture site (see diagram) using a medi-swab. Wait for the area to dry.
7	Make puncture with lancet with tip shorter than 2.0mm. Wipe off first small drop.
8	Gently apply collection paper to large drop of blood. Allow blood to soak through completely. If blood does not fill the circle another drop may be applied immediately. Collect from one side of the paper only and check the circle is completely filled from both sides.
9	Repeat step 8 to fill other 3 circles.
10	Allow to dry.
11	If necessary, put plaster over puncture site.
12	Complete Well Child Health Book.

Follow Up of Testing

If results are normal	If results are normal, no formal notification is made by the National Testing Centre to either the LMC or the parents unless this is indicated by clinical details received with the test card or unless specifically requested.
If repeat testing is required	If a repeat test is required, either because of insufficient sample or to retest for specific conditions, the LMC is contacted again by the National Testing Centre. Confirmation of the outcome of the second test is sent by the National Testing Centre. If the LMC details are unclear, the National Women's Facility Midwife based in the Walk-in Centre, Maternity Outpatients is contacted and she will identify and follow up with the LMC as appropriate.
If results are abnormal	The National Testing Centre notifies the LMC and discuss further followup options with them. Where the condition requires urgent treatment and the LMC is unable to be contacted NTC will notify a paediatric specialist in the condition indicated by the screening test. Abnormal test results are notified within a week of receipt of the sample.
Summary Report	The National Testing Centre sends a report monthly to LMCs listing infants tested for them in that month. LMCs are responsible for checking the list and informing the National Testing Centre of any other infants who are not reported as being tested. At National Women's the Facility Midwife in outpatients clinic checks this list.

National Testing Centre Contact Details

Mail	National Testing Centre Labplus Auckland District Health Board Private Bag 92 024 Auckland New Zealand
Phone	External: +64 9 307 4949 Ext.6759 Internal: Ext.6759
Fax	External: +64 9 307 4936 Internal: Ext.6936
Email	ntc@adhb.govt.nz

Parent Information Sheet

Click here to download the parent information sheet.
Note: requires Adobe Acrobat Reader.

Metabolic Screening Samples in Newborn Infants

Introduction

Purpose

Associated Documents

Newborn Baby Metabolic Screening

Timing of Test

Informed Consent – Policy Statements

Informed Consent

Lead Maternity Carer Responsibilities - Antenatal

Phlebotomists

Process - Postnatal Period

Lead Maternity Carer Responsibility

Admitting Office Responsibility

Ward Clerk Responsibility

Midwife Responsibility

Responsibility for Consent

Newborn Service Metabolic Screening

Forwarding of Cards to National Testing Centre

Obtaining a Blood Sample

Process

Follow Up of Testing

If results are normal

If repeat testing is required

If results are abnormal

Summary Report

National Testing Centre Contact Details

Mail

Phone

Fax

Email

Parent Information Sheet