GUIDE TO NEWBORN SCREENING PROGRAMME

Transcription

1 \ GUIDE TO NEWBORN SCREENING PROGRAMME 1

2 MEDILAB PROFILE MEDILAB, the leading independent provider of Clinical Laboratory Diagnostic Services in Cyprus, was established in 1980 by Mr. C. Pavlides and has grown since steadily over the years to become the largest Laboratory Services by providing an extensive range of high quality routine and specialised laboratory referral investigations to meet all the needs of the medical specialists. MEDILAB has been the laboratory of choice for the majority of the medical community in Cyprus and the pioneer in the application of the most advanced technologies and methodologies, including the Newborn Screening Programme. MEDILAB, is considered today amongst the most Accredited Laboratories in Europe, having been accredited by the European and International Accreditation Certificate ISO15189 in over 170 tests, covering all major disciplines, including that of Clinical Microbiology. MEDILAB s reputation was built on Quality and Modern Technology, coupled by its timely and continuous improvement in its services, fast turnaround of results, most within 2 hrs, low cost, efficient management and continuous innovation. MEDILAB is considered by the medical community as the most state of the art technologically and electronically advanced Laboratory in Cyprus, equipped with cutting edge technology, capable of performing up to 8000/tests per day. Efficiency backed by the use of modern LIS, along with the newest electronic equipment in fields such as OCR technology, for automatic test ordering and for patient registration, results transmission by various ways, including HL7 protocol etc. MEDILAB operates from its owner-occupied and luxurious 600m 2 premises in a modern Laboratory setting situated in the Lycavittos area in Nicosia. Our in-house team is composed of 22 well trained professionals, operating its own courier service, home phlebotomy service and an exclusive 24 hour on call service. MEDILAB s popular Referral Services provides a comprehensive specialty diagnostic service to over 130 Laboratories, Private Hospitals, Medical Centres and Government Hospitals. Costas Pavlides, MRSC, FIBMS Medilab Director 2

3 NEWBORN SCREENING PROGRAMME Medilab offers the Newborn Screening Programme, an innovative test that screens babies at birth for 54 Inborn Errors of Metabolism (IEM). The Newborn Screening Programme is performed under the strict international standards, fully in line with modern scientific practices in the field of Paediatric Prevention. The implementation of the Programme, can save lives or prevents severe psychokinetic disabilities. The purpose of the Programme is to detect diseases in newborns in the first few days of life, for which early medical intervention leads to reduction or elimination of mortality, pathology or general health complications of the newborn. The Programme applies to the whole neonatal population and the process is quite simple: around the 2nd to 6th day of birth a few drops of blood are collected on a special collection card (Guthrie), are tested for IEM with results made available within 2-4 days from sample arrival at the Laboratory. If the child is born with a disorder and does not receive proper treatment early, this is likely to lead to severe long-term health complications, such as physical and mental retardation, neurokinetic disorders or even premature death. In most cases, treatment is very simple and it involves either avoiding certain foods or supplementing food with some hormones or vitamins. One by one the disorders may be rare, but all together the Inborn Errors of Metabolism are frequent with rates ranging from 1:1000 to 1:5000. Our specialized laboratory applies state-of-the-art technology and methodologies, according to the standards proclaimed by the American College of Medical Genetics. Quality certified by Accreditation under the European and International Quality Standard ISO 15189, with an applied External Quality Control under the strictest specifications of the European Union and the U.S. Newborn screening Programmes are widely applied in all developed countries around the globe since Each country chooses a customized panel of tests, according to its history of inherited diseases, economic strength and pressure applied by each country s scientific lobby. In the U.S.A all the states apply Newborn Screening Programme with a panel of tests varying, reaching in some states up to 75 disorders. 3

4 Medilab is ready, strengthened by its sound structure, the expertise, the capacity and the logistics, to undertake in the event of a concord, the screening of all the country s newborn babies. Furthermore, by using the detailed data & information that are collected from all newborns, we will help in the establishment, or strengthening if already exists, a National Epidemiology & Hereditary Diseases for your country. Such detailed data can help to create a Preventive Health Policy, as dictated by the modern international scientific practices in Pediatrics Prevention. Kind Regards,... Costas Pavlides, MRSC, FIBMS Medilab Director 4

5 EXPANDED NEWBORN SCREENING PROGRAMME CLINICAL APPLICATION: PROGNOSIS USEFULNESS & BENEFITS A- The Programme 1. Our Expanded Newborn Programme tests for 54 Inborn Errors of Metabolism (IEM) in a drop of blood on the Guthrie paper. 2. Results in 2-4 days from the time the sample arrives at the Lab. 3. Free follow up tests in children who test positive on the screening test, with specialized analysis for metabolic tests. B- Newborn Testing Prevention Policy 1. Prevents the birth of a second child with IEM. Parents who have no family history of problems and/or who have already had healthy children can still have children with these disorders. 2. Most infants with these disorders show no signs of these conditions. If these conditions are detected at birth the child can lead a normal, healthy life. 3. Application of the programme will prevent the birth of children with permanent disabilities thus relieving, both the family and the state, of the huge psychological and life economic burden for the treatment and rehabilitation of these children in costly specialized Medical Centres. 4. Contribution to the shaping of a State Health Prevention Policy. C- Epidemiology 1. Archive for epidemiology statistical studies for the prevention and epidemiology of hereditary diseases. 2. Results data will be useful to the government to help draw conclusions regarding prevention measures and epidemiological prevalence of the various diseases and apply new approach to therapy. Such data are also welcomed by the European Union. 5

6 D- Test and Method Credentials 1. Quality Assurance The laboratory participates in all Quality Control (QC) programs performed internationally on the subject such as the Centre for Disease Control CDC (Atlanta USA), ERNDIM (UK based) etc. 2. Accreditation The Laboratory is an ISO Accredited specifically for newborn screening methodologies. 3. Application of modern technology according to strict standards of American College of Medical Genetics. 4. Logistics Organizational structure and logistics in place, for a rapid transportation of samples to Medilab Laboratories. 5. Electronic transmission of results, possible application of remote access. E- Medilab Commitment 1. To provide results of the Expanded Newborn Programme of 54 Inborn Errors of Metabolisms (IEM) 2. To analyze the tests included in the Program based on internationally accepted analytical standard methods. 3. To provide free of charge the Guthrie collection filter papers in English, Greek and Russian language. 4. To undertake shipping expenses for the samples sent to Medilab. 5. To provide free of charge tests to confirm positive screening results. 6. To results as soon they are completed. 6

7 THE NEWBORN PROGRAMME SCREENING Testing for 54 Inborn Errors of Metabolism (IEM) Q. What is the Newborn Screening Programme? Newborn Screening Programme tests babies for serious disorders, usually performed when the baby is 2-4 days old Q. Why is Newborn Screening Programme done? It is done to find out if the baby has a disease or condition for which early treatment can prevent death, mental retardation, or physical disability. Q. How is performed? Newborn Screening Programme is performed by pricking the baby s heel and putting a few drops of blood on the Guthrie special filter paper. The paper is allowed to dry and then sent to the laboratory Q. But we have no family history of these disorders... Parents who have no family history of problems and/or who have already had healthy children can still have children with these disorders. In fact, most children with these disorders come from families with no previous history of the condition. Genes for these disorders can be passed along through generations of healthy people. These "carriers" are healthy because the normal gene in the pair is working (genes come in pairs one from each parent), making up for the flawed gene. But when two people who coincidently carry the same flawed gene get together, their risk of having an affected child is 25% for each pregnancy. This pattern called recessive inheritance, explains how most metabolic diseases appear unexpectedly. Q. But my baby looks healthy... Most babies with disorders look and act normal and seem perfectly healthy. The Newborn Screening Programme helps to catch the problem before symptoms and before the baby becomes sick. If babies are diagnosed and treated early they do well and lead a healthy life. The earlier the disorder is detected, the higher the chance of having a good prognosis. Q. What is a Retest? If the result of your child's test is abnormal, a "retest" is usually required. A request for a retest does not necessarily mean the child has a disorder, but that it is possible. 7

8 Q. What does a positive result indicate? Parents should not be alarmed by positive results as the screening gives only preliminary information, albeit with a high degree of accuracy. In this case, Newborn Screening Test should be followed by a precise confirmatory test. Q. What exactly are Inborn Errors of Metabolism (IEM)? These are disorders caused by the accumulation of chemicals produced naturally in the body to abnormal levels. The symptoms manifest themselves in a variety of ways; slow physical development or mental retardation. In some cases, they could result in death. Unfortunately, most newborns with these disorders show no signs of these conditions. If these conditions are detected at birth, the child can be treated and lead a normal, healthy life. Q. If the disorder is detected early can it save lives? What the therapy consists of? Of course Newborn Screening Programme can save lives or prevent serious psychokinetic disabilities. The symptoms and effects can be mitigated, if they are detected and treated early, leading to a normal life. Therapy in most cases consists of special diets such as, reduction of fat, reduction of proteins, treatment with certain amino acids etc Without therapy the disorder is fatal and if not so, it can result in severe psychokinetic retardation, causing family and the state, huge psychological and life economic burden for the treatment and rehabilitation of these children in costly specialized Medical Centres. Q. Can Newborn Screening Test be performed in older children or adults? Yes. Older children or adults can also be screened but without the test for Cystic Fibrosis. Q. Will Newborn Screening Test detect all conditions? The analyses conducted produce results that can be used by qualified physicians in the diagnosis of IEMs. Evidence of these conditions will be detected in the vast majority of affected individuals. However, due to genetic variability, age of the patient at the time of specimen collection, quality of the specimen, health status of the patient and other variables, such conditions may not be detected in all. 8

9 FREQUENCY OF INBORN ERRORS OF METABOLISM PHENYLKETONURIA (PKU) 1:10000 CYSTIC FIBROSIS 1:2500 GALACTOSAEMIA 1:50000 CONGENITAL ADRENAL HYPERPLASIA 1:18000 CONGENITAL HYPOTHYROIDISM (TSH) 1:3000 BIOTINASE ACTIVITY 1:80000 METABOLIC DISEASES TOTAL 1:1000 1:5000 QUALITY INDEX FOR NEWBORN SCREENING PROGRAMME The total assessment of the Newborn Screening Programme by the use of specific statistical data: Sample Collection Results Report 2 d - 6 th day Sensitivity 83.33% Specificity 99.68% Prevalence 1:2897 False-Positive Percentage 0.32% 2 4 days from sample arriving to the Lab 9

10 INBORN ERRORS OF METABOLISM (IEM) DETECTED BY OUR NEWBORN PROGRAMME 1 Medium Chain Acyl Coa Dehydrogenase Deficiency 28 2 Long Chain 3 Hydroxy Acyl CoA Dehydrogenase Deficiency 29 Malonyl CoA Decarboxylase Deficiency (Malonic Acidemia) 2 Methyl 3 Hydroxybutyryl CoA Dehydrogenase Deficiency 3 Trifunctional Protein Deficiency 30 Ethylmalonic Encephalopathy 4 Very Long Chain AcylCoA Dehydrogenase Deficiency 31 Formiminoglutamic Aciduria 5 Short Chain AcylCoA Dehydrogenase Deficiency 32 Biopterin Biosynthesis Defects 6 Carnitine Palmitoyl Tranferase Deficiency Type I 33 Biopterin Regeneration Defects 7 Carnitine Palmitoyl Transferase Deficiency Type II 34 Hyperphenylalaninemia 8 Glutaryl CoA Dehydrogenase Deficiency 35 Phenylketonuria (PKU) 9 2,4 Dienoyl CoA Reductase Deficiency 36 Argininemia 10 Carnitine/Acyl Carnitine Translocase Deficiency 37 Arginino Succinic Aciduria (ASA Lyase Deficiency) 11 Carnitine Uptake Defect 38 Carbamoylphosphate Synthetase Deficiency 12 Short Chain Hydroxy AcylCoA Dehydrogenase Deficiency 39 Ornithine Transcarbamylase Deficiency 13 Medium Chain Ketoacyl CoA Thiolase Deficiency 40 Citrullinemia Type I 14 3 Hydroxy 3 MethylGlutaryl CoA Lyase Deficiency 41 Citrullinemia Type II 15 Glutaryl CoA Dehydrogenase Deficiency Type I 42 Homocystinuria 16 Isobutyryl CoA Dehydrogenase Deficiency 43 Methionine Adenosyltransferase (MAT I/III) Deficiency 17 Isovaleryl CoA Dehydrogenase Deficiency 44 Maple Syrup Urine Disease (MSUD) 18 2 Methylbutyryl CoA Dehydrogenase Deficiency 45 MTHFR 19 3 Methylcrotonyl CoA Carboxylase Deficiency 46 Tyrosinemia Type I 20 3 Methylglutaconyl CoA Hydratase Deficiency 47 Tyrosinemia Type II 21 Methylmalonyl CoA mutase(0,+) Deficiency 48 Tyrosinemia Type III 22 Adenosyl Cobalamin Synthesis Defects (CblA,B) 49 Transient neonatal Tyrosinemia 23 Methylmalonic Acidemia and Homocystinuria(CblC,D) 50 Biotinase activity 24 Maternal Vitamin B12 Deficiency 51 Galactosemia 25 Mitochondrial AcetoacetylCoA Thiolase Deficiency 52 Congenital Hypothyroidism (TSH) 26 Propionyl CoA Carboxylase Deficiency(Proprionic Acedemia) 53 Cystic Fibrosis 27 Holocarboxylase Synthetase Deficiency 54 G6PD Deficiency 10

11 STEPS FOR SPECIMEN COLLECTION AND SAMPLING PROCEDURE 1. Fill out the demographics of the card. 2. Clean the heel of the baby with alcohol prep, and let it air dry. 3. Puncture heel at the sciagraphic area. 4. Wipe out the first blood drop with sterile gauze. 5. Allow a free blood flow with a gentle squeeze of the area. 6. Allow blood drops onto the circles or lightly touch filter paper to large blood drop until completely fill circle. 11

12 SAMPLE PRESERVATION AND TRANSPORT STORING THE SAMPLES Blood samples are placed on the Guthrie Cards, dried for 2-3 hours at room temperature (up to 27 C). Once dried place each card separately in the specific envelope supplied. Samples can be preserved up to 15 days from collection if refrigerated or kept at (4-8 C). SHIPPING SAMPLES TO MEDILAB Every day, all envelopes with Guthrie cards are placed in a large envelope and ship to Medilab Laboratories via an international courier service, using our international account number. To arrange a courier sample collection, please call Medilab Reception at /2 or to info@medilabonline.com NOTE: Shipping costs undertaken by Medilab. 12

13 GUTHRIE CARD 13

14 CONTACT DETAILS 16, Nicodemou Mylona str Lycavittos - Nicosia, Cyprus Tel : (+357) / 2 Fax: (+357) info@medilabonline.com web: On Call Service (24hrs): (+357) Additional Contacts: Technical info & supplies: (+357) (direct), (+357) (ext. 3) Accounts Department: (+357) (direct), (+357) (ext. 5) fax: (+357) accounts@medilabonline.com 14