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Neonatal Screening LaboratoryOutlineThe South Australian Neonatal Screening Laboratory provides screening to detect rare, but serious health problems in newborn infants, often before there is any sign that a problem exists. Early diagnosis means that appropriate treatment can be given to greatly reduce and often prevent entirely the effects of the problem for the rest of the child’s life. The South Australian Neonatal Screening Laboratory is located within the Department of Genetic Medicine at the Women’s and Children’s Hospital 72 King William St, Adelaide, a leading Paediatric teaching hospital. The role of the South Australian Neonatal Screening Laboratory is to identify and diagnose infants who are at risk of developing one of the screened disorders. This enables early medical intervention to prevent, or significantly reduce the morbidity and mortality associated with the screened disorder. The South Australian Neonatal Sceening Laboratory was established in 1966 with screening for Phenylketonuria, (PKU). The PKU test was developed by Dr. Robert Guthrie in the early 1960's. Since these early beginnings the numbers of patients screened by the Centre and the disorders tested for has grown, so that infants are now screened for over 30 different inherited disorders. To date, over 750,000 infants have been screened in South Australia with the detection of over 250 affected infants. Developments in technology saw the Laboratory obtain its first Tandem Mass Spectrometer in 1998. This piece of equipment allowed for expansion in the range of health problems that infants could be tested for to include over 30 different inherited disorders. In the year 2001, there are only 15 centres worldwide that use tandem mass spectrometry as part of their neonatal screening program. The addition of another two new machines in 2001 will allow the South Australian Neonatal Screening Laboratory to become one of the leading neonatal screening centres in the Asian Pacific Region. The South Australian Neonatal Screening Laboratory is at the forefront of research into newborn screening in the world and provides state of the art screening services for a number of states in Australia as well as several centres overseas. How to access the serviceHow to organise a testSending Samples from Within Australia Blood Spot Collection Card Tel: (08) 8161 7396 For practitioners sending samples from countries other than Australia, please refer to our detailed instructions on "Sending Samples from Outside Australia". Parent Information Booklets The booklet can be down loaded and printed by clicking on the image or it can be ordered from the laboratory as required. Collecting the Sample Collect the specimen from the infant when it is at least 48 hours of age. This allows for early metabolic changes and the commencement of milk feeds. A quality specimen will have all the requested information on the screening collection card completed. All four circles on the card should be completely filled (from the back of the card) and saturated with a uniform cover of blood. The card should look identical on the front and the back with each circle completely saturated with blood. The screening collection card should be air dried in an appropriate drying rack for a minimum of four hours at a temperature no greater than 30 degrees Celsius. For more detailed information on how to undertake a heel prick blood collection, see 'Education resources on blood spot sample collection.' Sending Instructions It is important that all the information asked for on the card is provided. Failure to provide the appropriate information may result in the test and subsequent results being delayed. Cards should be packed alternating the spots so that the blood spots from any one card are resting on the bottom of the cards packed before and after it. This helps to prevent contamination between samples. The Neonatal Blood Spot Collection cards should then be packed inside an envelope, or wrapped carefully with white paper. This first envelope is placed inside a second envelope and sealed. The second envelope should then be addressed to the laboratory (details below) and sent on the day of collection. Placing the cards inside two envelopes helps to protect the cards should the outer envelope get damaged in transit. Cards should never be packaged in plastic bags as this may cause the samples to sweat. All samples should be dispatched to the laboratory on the day of collection. Address for Sending a Sample from within Australia South Australian Neonatal Screening Laboratory Results After testing has been completed, the referring hospital or health professional will be contacted by the SA Neonatal Screening Centre via mail or telephone depending on the outcome of the tests. The main test outcomes A request for a re-sample due to poor specimen or equivocal test results A positive result indicates that the child is at risk of having that particular disorder. These results are always provisional. Formal diagnosis of the disorder usually requires another test. This may be a blood test, urine test or both. It is also essential to confirm that the screening test results actually belong to the infant whose name appears on the screening card. All faxed or emailed results will be followed up with a hard copy of the report For more information regarding results see "How will I be contacted with results" Confirmatory Testing of Positive Screening Results For more information on the range of other metabolic, enzyme or molecular tests undertaken within the Department of Chemical Pathology at the Women’s and Children’s Hospital see the links below For a general list or search of all the tests offered by the Department of Chemical Pathology Available Tests and Screens (COMMING SOON) For general information on the enzyme and molecular analysis For general information on metabolic tests Sending Samples from Outside Australia If you would like to send samples to the South Australian Neonatal Screening Centre please contact the laboratory to arrange for collection cards and an information kit to be sent to you. Blood Spot Collection Card Tel: (08) 8161 7396 Parent Information Booklets The booklet can be down loaded and printed by clicking on the image or it can be ordered from the laboratory as required. Collecting the Sample Collect the specimen from the infant when it is at least 48 hours of age. This allows for early metabolic changes and the commencement of milk feeds. A quality specimen will have all the requested information on the screening collection card completed. All four circles on the card should be completely filled and saturated with a uniform cover of blood. The card should look identical on the front and the back with each circle completely saturated with blood. The screening collection card should be air dried in an appropriate drying rack for a minimum of four hours at a temperature no greater than 30 degrees Celsius. For more detailed information on how to undertake a heel prick blood collection, please click here Sending Instructions You will need to check with your country’s quarantine and mail rules to ensure compliance with local regulations. The collection card must be TOTALLY dry before being placed in an envelope for mailing. Cards should be packed alternating the spots so that the blood spots from any one card are resting on the bottom of the cards packed before and after it. This helps to prevent contamination between samples. It is important that all the information asked for on the card is provided. failure to provide the appropriate information may result in the test and results being delayed. The Neonatal Blood Spot Collection cards should then be packed inside an envelope, or wrapped carefully with white paper. This first envelope is placed inside a second envelope and sealed. The second envelope should then be addressed to the laboratory (details below) and sent on the day of collection. Placing the cards inside two envelopes helps to protect the cards should the outer envelope get damaged in transit. Cards should never be packaged in plastic bags as this may cause the samples to sweat. All samples should be dispatched to the laboratory on the day of collection. For overseas customers, it is important that all samples are sent via airmail to ensure the sample reaches the laboratory as quickly as possible. Address South Australian Neonatal Screening Laboratory Results For our overseas customers, the laboratory provides a fax or email service to notify referring doctors or health professionals of results. Please ensure that when you send a sample you also provide a contact telephone number and either fax or email address for receiving results. This will help to ensure that your results are delivered promptly. The main test outcomes are: A 'negative’ screening test result indicates that the test results in that sample are all in the normal range. These are the majority of test results. A request for a re-sample due to poor specimen or equivocal test results A positive result indicates that the child is at risk of having that particular disorder. These results are always provisional. Formal diagnosis of the disorder usually requires another test. This may be a blood test, urine test or both. It is also essential to confirm that the screening test results actually belong to the infant whose name appears on the screening card. All faxed or emailed results will be followed up with a hard copy of the report For more information regarding results see "How will I be contacted with results" Confirmatory Testing of Positive Screening Results For more information on the range of other metabolic, enzyme or molecular tests undertaken within the Department of Chemical Pathology at the Women’s and Children’s Hospital see the links below For a general list or search of all the tests offered by the Department of Chemical Pathology Available Tests and Screens For general information on the enzyme and molecular analysis National Referral Laboratory For general information on metabolic tests Metabolics and Therapeutics For further information regarding ordering of a Neonatal Screening Test please contact the laboratory Information for FamiliesNewborn Screening – Frequently Asked QuestionsWhat is a new born screening test? Screening newborn babies for health problems (congenital disorders) is an established worldwide public health practice. The Newborn Screening Test is done using a small sample of blood collected when the baby is about 2 days of age. From this sample, several tests are performed to detect rare, but serious health problems, often before there is any sign that the problem exists. Early diagnosis and appropriate treatment can greatly reduce, and often prevent, the effects of the problem for the rest of the individual’s life. The Newborn Screening Test blood-spot sample is collected by a midwife in the hospital where your baby is born. If your baby is not born in a hospital or if you and your baby are discharged earlier, the blood-spot sample may be collected at home. To collect the blood, the baby’s heel is pricked, and a small piece of special filter paper is soaked with four small spots of blood and allowed to dry. The blood-spot is sent to the Women’s and Children’s Hospital where it is tested and the results sent back to the hospital or midwife within a week. Over 30 different health problems can be detected using these blood-spots. These include Phenylketonuria (PKU), Galactosaemia, Congenital Hypothyroidism (CHT), Cystic Fibrosis (CF) and several conditions affecting the breakdown of fats (fatty acid oxidation defects) and proteins (amino acid metabolism disorders). Using advanced technology known as Tandem Mass Spectrometry, several tests can now be performed on each blood-spot. Your doctor or midwife will contact you if there is any suggestion that your baby might have a problem. A repeat of this test may sometimes be required because of a poor sample or for a slightly elevated result. What will my baby be tested for? 1. Congenital Hypothyroidism (CHT) 2. Cystic Fibrosis (CF) 3. PKU and other Amino Acid Metabolism Disorders In addition to PKU, there are other, rarer disorders of amino acid metabolism, which the Newborn Screening Test also detects. 4. Galactosaemia 5. Fatty Acid Oxidation Defects (FAOD) Babies with a FAOD cannot use their stored fat to provide energy during a time of stress, causing the body to use all of its blood sugar instead. This results in low blood sugar levels that can be fatal if not treated. Children with a FAOD are generally well unless they have a viral infection (cold or flu) or go for longer than usual between meals, when they may develop a severe problem. Treatment for this group of disorders usually involves a special diet and avoiding prolonged periods of fasting. 6. Screening Tests for other Disorders 7. Pilot Programme for Lysosomal Storage Disorders The LSD are a group of rare inherited health problems, which affect 1 in 7,700 babies born in Australia. Infants with a LSD will develop a range of health problems such as bone and joint problems, breathing difficulties, developmental and behavioural problems. Early detection of these disorders enables counselling of families, close monitoring of the child and an opportunity to provide appropriate medical treatment. What is the chance my baby will have one of these disorders? These health problems are rare and are found in 1 out of every 800 babies born in Australia. In Australia, on average,75 babies are born with congenital hypothyroidism, and about 105 babies are born with Cystic Fibrosis each year. 20 babies are born with PKU each year, and 5 babies with Galactosaemia. Fatty Acid Oxidation Defects affect about 20 babies each year. How is the blood test performed? The test is performed by pricking the infant’s heel and putting four drops of blood on a special filter paper. These blood spots are allowed to dry and are sent to the Women’s and Children’s Hospital in Adelaide, where they are tested. The results of the tests will then be sent to your hospital, doctor or midwife within a week. Because the disorders tested for are rare, the great majority of infants tested will show no signs of being affected with a particular disorder. Only 1 in 800 babies tested will be affected with one of these disorders. If your child’s test shows an abnormal result, you will be notified immediately by your doctor who will provide all the necessary details on what to do next. This will almost always require further testing in order to confirm or exclude the disorder in your baby. Why is this test done? The test is done to find out whether your baby has an inherited health problem for which early treatment can help to greatly reduce, and often prevent the effects of the problem for the rest of the child’s life. The tests are done when the baby is well, before any signs of a problem exists. This allows the baby to receive appropriate treatment early in order to stop very serious problems such as mental retardation and even death from occurring. For example, if an infant affected with PKU is left untreated, they will develop significant brain damage within a few months. Treatment for these infants involves the use of a special diet given soon after birth. By maintaining the diet for the rest of their lives, these infants will go on to grow and develop normally. But my family has no history of any of these health problems Parents who have no family history of problems and who already have had healthy children can still have children with these health problems. In fact, most children with these health problems come from families with no previous history of the condition. How can I have my baby tested for all of these health problems? All samples sent to the South Australian Neonatal Screening Centre are tested for all of the disorders outlined above in "What will my baby be tested for?". For those parents living in South Australia, Tasmania and the lower part of the Northern Territory, you will be offered these tests by your midwife or doctor, 48 hours after you have had your baby. If your baby is not born in a hospital or if you and your baby are discharged earlier than 48 hours after birth, the blood-spot sample may be collected by an experienced practitioner at home, in a doctor’s rooms or at a pathology collection centre. Not all states in Australia test infants for the full range of disorders. Parents should refer to their local health authority that can provide information on the specific disorders tested for in your area. For children born overseas, some countries offer either some or all of these tests as a matter of routine. Some countries have these tests available by request, while other countries do not offer these tests at all. The South Australian Neonatal Screening Centre provides a world class testing service for infants born in countries other than Australia. Contact your doctor or Paediatrician or follow the link "How to organise a test" for more information on ordering these tests. Storage of blood-spot cards The National Pathology Accreditation Advisory Council of Australia recommends that the newborn screening dried blood-spot cards be stored for 50 years. Information regarding individuals tested and the test results are securely held within the Women’s and Children’s Hospital in accordance with Hospital policy and guidelines governed by state confidentiality laws. If you have any difficulty with this, please contact us. Further information For more information about the neonatal screening programme, please contact: Scientific Enzo Ranieri Medical Dr. Janice Fletcher What Happens When a Child has One of These Disorders – Jackson's StoryIn 1999, the South Australian Neonatal Screening Centre launched an expanded Neonatal Screening Program. This expanded program meant that babies could be screened much earlier for a larger range of inherited health problems known as ‘Inborn Errors of Metabolism’. By undertaking early testing for these inherited health problems, babies who would have gone on to develop serious health problems in the first few months of life are able to be treated much earlier to either prevent entirely, or greatly reduce, the effects of the problem on the baby for the rest of his/her life. As a baby, Jackson was the first child identified with a condition detected through the expanded neonatal screening program. Jackson suffers from an inherited disorder known as MCAD deficiency. This disorder affects the ability of the body to process fats. In times of stress or sickness, Jackson is unable to use his stored fat for extra energy. Having MCAD disorder means Jackson is at very high risk of serious illness if he gets sick with a cold or flu, or if he goes for a long time between meals. Once Jackson was diagnosed via his screening test, he was placed on a special dietary intervention – his parents know he must not go for long periods between feeds and if unwell, is fed more frequently on a special diet. As a result of this treatment and regular check ups with Dr Fletcher at the Metabolic Clinic at the Women’s and Children’s hospital, Jackson is growing up into a normal, healthy child. Without diagnosis and early treatment, 20% of babies with MCAD deficiency are at risk of coma and death. Since the introduction of the expanded screening program, the South Australian Neonatal Screening Centre has detected 3 other babies with MCAD disorder and a number of children with other inherited metabolic disorders. Early detection of children with these disorders enables early treatment and the chance for these children to live a much better life. Family Support and Information LinksThe following is a list of information and website links that provide further information and support to patients who have a metabolic disorder, and their families. www.cyh.com www.tylerforlife.com PKU Information for South Australians Support group for families affected with Nonketotic Hyperglycinemia National Coalition for PKU National Urea Cycle Disorders Foundation International Storage Disease Collaborative Study Group The Montreal Childeren's Hospital United Leukodystrophy Foundation Children's PKU Network National PKU News PKU of Florida National Society for PKU (NSPKU) Research Trust for Metabolic Diseases in Children (RTMDC) The Canadian Society For Metabolic Disease PKU Canada Inc. Family Association Information for Parents BookletThe South Australian Neonatal Screening Centre has produced an "Information for Parents" booklet that can be downloaded by clicking here. Information for Health ProfessionalsFrequently Asked QuestionsWho Performs the Screening Tests? The South Australian Neonatal Screening Laboratory is located within the Department of Genetic Medicine at the Women’s and Children’s Hospital 72 King William St, Adelaide, a leading Paediatric teaching hospital. The role of the South Australian Neonatal Screening Laboratory is to identify and diagnose infants who are at risk of developing one of the screened disorders. This enables early medical intervention to prevent or significantly reduce the morbidity and mortality associated with the screened disorder. The South Australian Neonatal Screening Laboratory was established in 1966 with the screening for Phenylketonuria, (PKU). The PKU test was developed by Dr. Robert Guthrie in the early 1960’s. Since these early beginnings the numbers of patients screened by the centre and the disorders tested for has grown, so that infants are now screened for over 30 different inherited disorders. To date, over 750,000 infants have been screened in South Australia with the detection of over 250 affected infants. The South Australian Neonatal Screening Laboratory is at the fore front of research into newborn screening in the world and provides state of the art screening services for a number of states in Australia as well as several centres overseas. Where are the tests sent? The tests are sent to the South Australian Neonatal Screening Laboratory at the Women's and Children's Hospital in Adelaide, South Australia. The South Australian Neonatal Screening Laboratory has been identified as a ‘Centre of Excellence’ in which a state of the art laboratory delivers a world class analytical and clinical service using the latest technology. How are the tests analysed? The South Australian Neonatal Screening Centre analyses some 30,000 blood-spot samples every year. Tests are performed using a range of different testing methodologies and equipment incorporating the latest technological advances. The most recent equipment acquisition to the laboratory has been the introduction of Tandem Mass Spectrometry (MSMS). The introduction of MS-MS technology to the laboratory in 1999 allowed newborn infants to be tested for more than 30 inherited health problems known as ‘Inborn Errors of Metabolism’ (IEM). These IEM are due to defects associated with amino acid and fatty acid utilisation. The SA Neonatal Screening Centre is one of only 15 centres worldwide using tandem mass spectrometry for neonatal screening in 2001. In the laboratory, 3 mm blood spot discs are punched from the blood collection cards and prepared for testing. These spots are used in a panel of screening tests to identify infants at risk for Congenital Hypothyroidism, Galactosaemia, Cystic Fibrosis, disorders of Amino Acid Metabolism, Fatty Acid Oxidation Defects and Organic Acidurias. Collectively, these health problems occur in one out of every 800 newborn infants. Which disorders are tested for? Conditions that are tested for by the SA Neonatal Screening centre include: Congenital Hypothyroidism Cystic Fibrosis Infants who emerge from the screening process with an elevated IRT and two copies of CF mutations are diagnosed as having CF. Babies with only one identified CF mutation may have another, rarer CF mutation, or, more likely, they may simply be one of the 1 in 25 South Australians who are CF carriers. These infants will need to be recalled for a sweat test to exclude the diagnosis for CF. In this group, infants with a positive sweat test will have CF while those with a negative sweat test will simply be a carrier of a CF mutation. Advances in antibiotic therapy and pancreatic enzyme replacement have greatly improved the quality and lengthened the life span of individuals affected by CF. Almost all patients with PKU have an inherited deficiency of the enzyme phenylalanine hydroxylase (PAH), which breaks down the amino acid phenylalanine to tyrosine. If left untreated, phenylalanine accumulates in plasma and tissues to toxic levels, causing irreversible intellectual disability. Because phenylalanine is an essential amino acid derived entirely from the diet, treatment by restriction of phenylalanine intake, combined with a phenylalanine - free amino acid supplement, makes it possible to lower plasma phenylalanine concentrations, and prevent damage to the brain. Galactosemia Fatty Acid Oxidation Defects Organic Acidurias Treatment for these disorders requires close dietary management to reduce the build up of the toxic chemicals while allowing normal growth and development. Lysosomal Storage Disorders Pilot Project How will I be contacted with results? The laboratory runs screening tests each working day. Once specimens are received by the laboratory, tests are run either on the same day, or the next working day. After testing has been completed, the referring hospital or health professional will be contacted by the SA Neonatal Screening Centre via mail or telephone depending on the outcome of the tests. This is an example of the report form sent to the hospital or health professional when the screening test for a particular infant has shown that the baby’s screening test is "all clear". The hospital or health professional has the ultimate responsibility to ensure that the results for each baby are received, checked against the birth records and recorded in the infant’s’ medical records. It is essential that all birthing centres and hospitals cross check that all infants have been screened and accounted for. In the event that no report has been received, the neonatal screening laboratory must be notified. What does a negative screening result mean? A 'negative’ screening test result indicates that the test results in that sample are all within the normal range. If a screening test produces a negative result, the hospital or referring doctor should receive the results from the South Australian Neonatal Screening Centre within 7 – 10 days of the laboratory receiving the sample. What does a ‘re-sample’ result mean? A ‘re-sample’ is a result which indicates that a sample will need to be recollected from a particular infant. There are a number of reasons why a sample may need to be re collected including: 1. Sample problems 1. Sample Problems
2. Correct Timing of Sample Collection 3. Borderline and Equivocal Test Results In the majority of cases, those infants who are recalled for a second sample return a normal result once the sample has been re tested. The doctors and midwives caring for the very small number of infants who record a positive result for one of the disorders tested for in the Neonatal Screening test panel are notified of these results immediately by telephone. What does a ‘positive result’ mean? A positive result indicates that the child is at risk of having that particular disorder. These screening results are always provisional. Confirmation of the diagnosis of the disorder requires further testing. This may be a blood test, urine test or both. It is also essential to confirm that the screening test results actually belong to the infant whose name appears on the screening card. All positive results are telephoned to the treating doctor or midwife and are faxed, wherever possible, on the same day. Confirmatory Testing of Positive Screening Results The South Australian Neonatal Screening Laboratory in association with the National Referral and Metabolic Laboratory at the Women’s and Children’s Hospital can provide a full range of confirmatory tests for any positive screening results. This may be a blood test, urine test or both. It is also essential to confirm that the screening test results actually belong to the infant whose name appears on the screening card. The laboratory will discuss suitable samples for confirmatory testing with the referring doctor when a positive screening result is found. For more information on the range of other metabolic, enzyme or molecular tests undertaken within the Department of Genetic Medicine at the Women’s and Children’s Hospital see the links below: For a general list or search of all the tests offered by the Department of Genetic Medicine For general information on the enzyme and molecular analysis For general information on metabolic tests What screening tests should I do on a premature or sick infant? Premature or sick infants pose a challenge to any screening Centre. Often these infants may be on intravenous fluids and antibiotics and may not have had sufficient protein and lactose to show up abnormalities. To overcome these problems, many hospitals have implemented the collection of several blood spot specimens over the period of hospitalisation. The frequency and timing of these collections will vary and it is important to check with your institution’s protocol before undertaking sample collection, however as a minimum, a sample should always be collected at 48 hours after birth and again before discharge. We have found re-sampling at around 30 days of age to be very helpful in extremely low birth rate infants. If you have any queries about when to collect specimens on sick or premature infants, please contact the laboratory for advice. South Australian Neonatal Screening Centre BulletinDownload the latest bulletins for the South Australian Neonatal Screening Centre You will need the Acrobat PDF plug-in to access these files. SA Screening Centre Bulletin – February 2001 | (TO COME) Education Resources on Blood Spot Sample CollectionThe following information has been provided as a brief overview of the procedure for undertaking a heel prick blood collection. If you are unsure as to the details of the method or are an inexperienced operator you should seek the advice of a more experienced colleague within your institution. Spot On - Neonatal Screening CD & Video The South Australian Neonatal Screening Centre has produced a comprehensive guide to the Neonatal Screening Test in the form of a program entitled "Spot On". The program is divided into two parts. The first part provides on overview of how and why the tests are done and how neonatal screening fits into the broader context of public health care. This section of the program also provides an explanation of the disorders tested for by neonatal screening. The second part of the program is designed as an instructional guide in the collection of samples for screening. The program is designed to assist both practitioners who seek to learn about the screening program and the methodology used to undertake a heel prick blood collection, and as an educational program for use in schools and other educational environments. The program is available in both VHS video or CD Rom format.
The order form can be printed out and faxed or sent off to the SA Neonatal Screening Centre address on the form. Once payment has been confirmed, videos are dispatched within 2 weeks. If you have any further queries about the video please contact: Clare Kiesewetter Heel Prick Blood Collection The following is a brief overview of the procedure for a heel prick blood collection. This is designed as an overview only and is not intended as a comprehensive guide. Excerpts from the "Spot On" video have been included for illustration purposes only. Timing of Collection Timing of collection is critical. It is important that the specimen is collected from infants when they are at least 48 hours of age. This allows for early metabolic changes and the commencement of milk and protein feeds. Samples collected too early may give false negative results. Samples collected too late may place children with health problems at risk of irreversible damage. When testing premature and sick infants, check your institution's protocol before taking the sample. If you are still unsure, contact the laboratory for further clarification. Informed Parental Consent
Parents may refuse to have their infant screened. This must be documented in the infant’s medical records. It is also advisable that the parents sign the appropriate documentation indicating their refusal and that this is recorded in the baby’s case notes. Documentation Before commencing the procedure complete ALL the details on the Neonatal Screening Collection Card using a ballpoint pen. It is important in order to process the sample accurately to record
It is important that a screening card from the South Australian Neonatal Screening Centre is used. This is because the card has been designed to capture four blood spots and has space for all the IMPORTANT details regarding the infant’s background, the sample and the referring doctor or hospital. Without all of this information, the laboratory will be unable to process the test. Sample Collection Procedure Preparation The puncture Collecting blood on the card The first drop is applied to the centre of the first circle. This almost never fills the circle completely. Place the second drop in a blank area within the circle and continue doing so until the first circle is filled. Then move onto the other circles, filling them in the same manner. Completing the documentation Drying and sending the card There are many ways of drying the cards safely. Cards can also be left to dry on the edge of a bench or ledge. The collection card must be TOTALLY dry before being placed in an envelope for mailing. Cards should be packed alternating the spots so that the blood spots from any one card are resting on the bottom of the cards packed before and after it. This helps to prevent contamination between samples. The Neonatal Blood Spot Collection cards should then be packed inside an envelope, or wrapped carefully with white paper. This first envelope should then be placed inside a second envelope and sealed. The second envelope should be addressed to the laboratory as per the directions outlined in the section "How to organise a test". Placing the cards inside two envelopes helps to protect the cards should the outside envelope get damaged in transit. Cards should never be packaged in plastic bags as this may cause sweating. All samples should be dispatched to the laboratory on the day of collection. For those sending samples from overseas, please refer to mailing directions in the section "How to organise a test". Common Collection Problems There are a number of common collection problems that can occur when undertaking a heel prick blood collection. When these problems occur, the infant will often need to be recalled for another collection. The ultimate aim of undertaking a heel prick blood collection is to ensure that each circle on the card is completely covered with a uniform amount of blood. This ensures that the reliability of the test is not compromised by problems with the sample. Each circle should be completely filled and the blood should be sufficient in volume to soak through the card. The collection should occur reasonably quickly so that fresh blood is never placed on top of partially dried blood. The most common collection problems that will require another sample to be collected are explained below. Insufficient Blood Volume Lack of Blood Coverage This problem may also occur if the operator attempts to collect blood too quickly, not allowing time for large drops to form. Layering of Blood Incomplete Blood Saturation Contamination Inappropriate Drying Conditions Separation In this example note the periphery of the circles illustrating separation of red blood cells and serum. Specimens showing the slightest evidence of separation must be recollected. NewsNew Version of Spot On Program Released The program incorporates a wide range of information on newborn screening that is relevant for practitioners and those who are interested in the genetic, social and ethical issues associated with screening programs such as schools and universities. The program is divided into two parts. The first part provides an overview of neonatal screening covering how and why the tests are done and how neonatal screening fits into the broader context of public health care. It also provides an explanation of the disorders tested for by neonatal screening. The second part is designed as an instructional guide for practitioners who are involved in the collection of samples for screening. Several well known researchers and genetic experts were interviewed for the program including:
The program is available as a video or on CD ROM to order a copy, please contact: Clare Kiesewetter Tel: (08) 8 8161 8094 Recent Diagnostic RecordSouth Australian Screening Laboratory BulletinReport of the activity for the period February 1999 to February 2000 Achievements In the 12 month period of operation 19,942 neonatal blood-spot screening tests have been analysed from the South Australian newborn population.The analysis was performed using tandem mass spectrometry in which an acylcarnitine profile identified fatty acid oxidation defects and organic acidurias and an aminoacid profile is used to identify aminoacidopathies.In addition to this,standard techniques were employed for the screening of congenital hypothyroidism, galactosemia and cystic fibrosis. Some infants have been screened on more than one occasion,the majority of these were premature infants in whom repeat testing at various ages is accepted protocol.As usual, some samples were inadequate for analysis and repeat samples were requested;this proportion was no different from that seen in previous years.Other infants had repeat samples requested because of transient abnormal profiles detected on their blood- spot screening tests.There was a ~3-4% overall recall rate for poor specimen, inappropriate collection time,multiple collection for premature infants and repeat testing. A clinical interpretation software was developed in collaboration with Professor A Roscher from the Munich Paediatric Hospital.The software enables the interpre-tation of the 93 individual analytical results produced by the tandem mass spectrometer in order to make a provisional diagnosis of an IEM.Confirmation of a “high risk ”infant identified by screening was performed by routine metabolic testing using blood and urine.
Introduction The Department of Chemical Pathology at the Women ’s and Children ’s Hospital introduced tandem mass spectrometry into front-line newborn screening in February 1999 as part of an Expanded Neonatal Screening Programme.This new technology has had a significant impact on the provision of neonatal screening service with the ability to identify over 30 different inborn error of metabolism (IEM).This was in addition to the standard screening for congenital hypothyroidism,galactosemia and cystic fibrosis. The Expanded Neoantal Screening Pro-gramme in the first year of operation has identified a number of disorders of fatty acid oxidation,organic acidurias and aminoacidopathies. Using tandem mass spectrometry the SA Neonatal Screening Programme has detected 4 babies with metabolic abnormalities,who would not have been detected using our previous screening methods.These were detected with abnormal acylcarnitine profiles diagnostic for medium chain acyl-CoA dehydrogenase deficiency (MCAD), isovaleric acidemia (IVA),3-methyl crotonyl CoA carboxylase deficiency (3MeCoACD) and a case of carnitine deficiency.There was an additional MCAD detected in December 1998 during the pilot phase.Tandem mass spectrometry screening using an acylcarnitine and aminoacid profile has detected 9 infants overall,giving an incidence of 1 in 2055 using this technology.The specific diagnoses are listed in Table 1. Outcomes In order to make these diagnoses,118 infants had repeat neonatal screening tests requested: 33 for abnormal amino acid profiles and 85 for abnormal acylcarnitine profiles (0.43%of all babies screened).Thirteen infants had persistently abnormal results and were recalled for counseling and further metabolic testing,of whom 9 have received a diagnosis of an inborn error of metabolism.In some infants the acylcarnitine marker metabolites were grossly elevated and a direct request for a formal metabolic screen was made without the need for a repeat blood-spot collection. In addition,fifteen infants were diagnosed by other screening methods to have congenital hypothyroidism (8 infants),galactosemia (2 infants)and cystic fibrosis (5 infants)(table 2).The collective incidence is one infant identified in every 771 births in the SA population. Conclusion SA Expanded Neonatal Screening Programme using tandem mass spectrometry has been successfully introduced in SA.This has enabled the identification,within 2 days of age,of four infants with an IEM that would have otherwise not been detected. FormsThe forms section should contain a list of forms/other paperwork that can be downloaded, and completed at home. Only forms that are up-to-date and relevant should be included. Resources/PublicationsWe envisage resources as being more directed toward health professionals – though this should not preclude patients and families. The resources should be presented as a list of links. Some examples of resources are:
Research ActivityInclude here brief details of any current/recent research projects. To avoid crowding use hyperlinks HoursMonday to Friday 9am – 5pm. Contact InformationScientific Staff
Enzo Ranieri Rosemarie Gerace Technical Staff Bronwen Bartlett Kerry Barnard Tel: (08) 8161 7396 Medical Staff
Dr Janice Fletcher Tel: (08) 8161 7295 or (08) 8161 7100 Location
Mailing AddressNeonatal Screening Department of Genetic Medicine Phone/Fax/EmailTel: (08) 8161 7396 Fax: (08) 8161 7100 Email: neonatalscreen@wch.sa.gov.au
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The time of birth
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