| Cover |
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| Table of Contents |
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| NEWBORN SCREENING HISTORY |
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| The Development of International Cooperation in Newborn Screening and the Efforts ofBob Guthrie and Horst Bickel |
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| H Naruse |
1 |
| History of the International Society for Neonatal Screening |
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| B Therrell, Jr, B Wilcken, H Naruse |
3 |
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| ESTABLISHMENT, EVALUATION AND IMPROVEMENT OF NEWBORN SCREENING PROGRAMS |
| Challenges and Opportunities in Establishing and Maintaining Newborn Screening Systems |
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| BL Therrell |
6 |
| Evaluating Outcomes of Newborn Screening Programs |
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| B Wilcke |
13 |
| Long Term Follow-up of Patients with Inborn Errors of Metabolism detected by the Newborn Screening Program in
Japan |
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| KAoki |
19 |
| Beyond Screening: Challenges in Measuring Outcomes |
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| PD Santos Ocampo, RPR De Guzman, BC Cavan, CD Padilla |
24 |
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| NEWBORN SCREENING QUALITY ASSURANCE SYSTEMS |
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| Quality Control System for Mass Screening in Japan |
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| H Naruse, A Tsuji, E Suzuki, N Watanabe, M Maeda, M Fukushi, N Ichihara |
30 |
| Development of a Newborn Screening Laboratory Quality Assurance System in Shandong, China |
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| W Wang, X Chen, J Zang, Y He, P Zhang, F Shen |
36 |
| Peformance Evaluation for Screening Laboratories of the Asia-Pacific Region |
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| WH Hannon |
39 |
| International Developments in Newborn Screening Quality Assurance |
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| D Webster |
43 |
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| ETHICAL, LEGAL AND SOCIAL ISSUES IN NEWBORN SCREENING (ELSI) |
| Bioethical Considerations in Neonatal Screening: Japanese Experiences |
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| I Matsuda |
46 |
| Storage and Use of Residual Dried Blood Spots |
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| D Webster |
49 |
| Ethical, Legal and Social Issues in Newborn Screening in the United States |
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| BL Therrell, Jr |
52 |
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| SCREENING DATABASES |
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| Information Overload - New Technologies, Can We Store the Data? |
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| V Wiley, K Carpenter, B Bennetts, B Wilcken |
59 |
| Data Integration and Warehousing: Coordination Between Newborn Screening and Related Public Health Prograrns |
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| BL Themell, Jr |
63 |
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| NEWBORN SCREENING PROGRAMS |
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| Newborn Screening in Australia and New Zealand |
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| D Webste |
69 |
| Newborn Screening: Experience of Bangladesh |
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| F Moslem, S Yasmeen, M Hasan, MA Karim, N Nahar, A Ahmed |
71 |
| Neonatal Screening in Hong Kong and Macau |
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| STS Lam, ML Cheng |
73 |
| Newborn Screening in Indonesia |
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| D Rustama, MR Fadil, ER Harahap, A Primadi |
76 |
| Newborn Screening in Japan |
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| K Aoki |
80 |
| Newborn Screening in Korea |
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| YJ Han, DH Lee, JW Kim |
81 |
| National Neonatal Hypothyroid Screening Program in Mongolia |
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| S Erdenechimeg |
85 |
| Newborn Screening in the Philippines |
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| CD Padill |
87 |
| Mass Newborn Screening in Singapore |
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| R Joseph |
89 |
| Neonatal Screening and Monitoring System in Taiwan |
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| WL Hwu, AC Huang, JS Chen, KJ Hsiao, WY Tsai |
91 |
| Neonatal Screening Program in Thailand |
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| W Charoensiriwatana, N Janejai, W Boonwanich, P Krasao, S Chaisomchit, S Waiyasilp |
94 |
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| NEONATAL SCREENING ASSAYS |
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| Reuse ofFilter Plates for Elution of Dried Blood Spot Samples in Neonatal Assays |
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| J Hardy, B Link |
101 |
| Designing Quality Control for Neonatal Screening Assays |
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| EMR Suolinna, TE Torresani, JO Westgard |
103 |
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| TANDEM MASS SPECTROMETRY AND OTHER TECHNOLOGIES: IMPACT ON NEWBORN SCREENING |
| MSMS Newborn Screening - Is It Really That Simple? |
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| V Wiley, K Carpenter, U Bayliss, B Wilcken |
107 |
| Expanded Newborn Screening by Tandem Mass Spectrometry: The Massachusetts and New England Experience |
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| D Marsden |
111 |
| Tandem Mass Spectrometric Analysis for Disorders in Amino, Organic and Fatty Acid Metabolism: Two Year Experience in
South Korea |
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| HR Yoon, KR Lee, H Kim, S Kang, Y Ha, DH Lee |
115 |
| Outcomes from Tandem Mass Spectrometiy (MS/MS) Workshops in the United States and the Performance Evaluation of
MS/MS Laboratories |
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| H Hannon, T Lim, 0 Adam, B Therrell |
121 |
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| G6PD DEFICIENCY |
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| Glucose-6-Phosphate Dehydrogenase Deficiency: Molecular Heterogeneity in Southeast Asian Countries |
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| M Matsuo, K Nishiyama, T Shirakawa, CD Padilla, LP San, P Suryantoro, NM Yusoff, NTN Dao |
127 |
| Quality Assurance Program for Neonatal Screening of Glucose-6-Phosphate Dehydrogenase Deficiency |
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| SH Chiang, KF Wu, TT Liu, SJ Wu, KJ Hsiao |
130 |
| G6PD Viangchan and G6PD Mediterranean are the Main Variants in G6PD Deficiency in the Malay Population ofMalaysia |
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| NM Yusoff, T Shirakawa, K Nishiyama, CK Ee, MN Isa, M Matsuo |
135 |
| Glucose-6-Phosphate-Dehydrogenase (G6PD) Deficiency in Yogyakarta and its surrounding areas |
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| P Suryantoro |
138 |
| Using the Fluorescence Spot Test for Neonatal Screening of G6PD Deficiency |
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| J Jiang, X Ma, C Song, B Lin, W Cao, S Wu, KJ Hsiao |
140 |
| Automated Determination of Glucose-6-Phosphate Dehydrogenase (G6PD) on a SPOTCHECK@ Microflow Analyzer |
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| GST Chen, CL Peterson |
143 |
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| CONGENITAL HYPOTHYROIDISM |
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| The Investigation of Factors Influencing the Measurement of Thyroid Stimulating Hormone in Dried Blood Spots on Filter
Paper |
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| X Chen, G Wu, Z Song, H Zhou, C Zhou, C Yang, W Wang |
147 |
| Detection Through Screening of Maternal Thyrotoxicosis Induced Central Hjpothyroidism In Newborns |
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| R Joseph, YS Lee, SCY Ng, KY Loke |
150 |
| The Utility of FT4 Serum in Newborns at Risk For Congenital Hrpothyroidism (CH) |
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| RA Cordova, G Vignola |
152 |
| Initial Versus Confirmatory Thyroid Stimulating Hormone (TSH) Levels: Is there a correlation? |
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| SC Estrada, KIT dela Cruz, C Padilla |
154 |
| Urinaiy Iodide Levels In Term Newborns And Their Mothers - A Pilot Study |
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| S Chan-Cua, M Ng, I Dayao, C Cuayo-Juico, F King, KK Tan |
158 |
| Screening for Congenital Hypothyroidism -A New Era in Bangladesh |
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| M Hasan, N Nahar, A Ahmed, F Moslenl |
162 |
| Newborn Screening for Congenital Hypothyroidism in Early Discharged Infants |
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| CF Domingo, CD Padilla |
165 |
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| CONGENITAL ADRENAL HYPERPLASIA |
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| CongenitalAdrenal Hyperplasia: Should Nationwide Screening Be Implemented in Thailand? |
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| N Janejai, P Krasao, J Phansang, R Pankamjanato, W Charoensiriwatana |
170 |
| Monitoring Congenital Adrenal Hyperplasia Using Blood Spot 17-Hydroxyprogesterone Assay |
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| CM Santos, LR Abad, SC Chua, CF Domingo |
174 |
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| DISORDERS IN PHENYLALANINE METABOLISM |
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| Phenylketonzrria Detected by the Neonatal Screening Program in Thailand |
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| S Pangkanon, V Ratrisawadi, W Charoensiriwatana, W Techasena, K Boonpuan, C Srisomsap, J Svasti |
179 |
| Hyperphenylalaninemia in the Philippines |
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| SC Estrada, CD Padilla |
182 |
| A Survey fir the Incidence of Pkenylketonuria it1 Guangdong, China |
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| J Jiang, X Ma, X Huang, X Pei, H Liu, Z Tan, L Zhu |
185 |
| 6-Pyruvoyl Tetrahydropterin Synthase Dejciency: A Case Report |
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| SB Capistrano-Estrada, WL Nyhan |
186 |
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| OTHER INBORN ERRORS OF METABOLISM |
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| Clinical Evalttation and Emergency Management of Inborn Errors of Metabolism Presenting in the Newborn |
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| J Christodoulou |
189 |
| An Introduction to Nutritional Treatment in Inborn Errors ofMetabolism -Different Disorders, Dzfferent Approaches |
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| B Wilcken |
198 |
| Challenges of Managing Patients With Inherited Metabolic Disorders in a Developing Country |
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| PB Acosta, R Sabo |
202 |
| Practical Aspects of Managing Low Protein Diets |
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| S Thompson |
208 |
| Dietary Management of Galactosemia |
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| SM Thompson, FE Arrowsmith, JR Allen |
212 |
| Cost-Benejt Analysis of Newborn Screening for Galactosemia in the Philippines |
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| CD Padilla, LF Dans, SC Estrada, MR Tamondong Jr, JJO Laceste, RMS Bemal |
215 |
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| INFECTIOUS DISEASES |
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| A Study to Implement Early Diagnosis ofHIVInfection in Infants Born to Infected Mothers |
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| B Sriwanthana, N Wetprasit, S Chareonsook, N Janejai, W Charoensiriwatana |
221 |
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| NEWBORN HEARING SCREENING |
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| Universal Neonatal Hearing Screening: Applications for a Developing Country in the Asia-PaciJic Region |
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| CG Navarro-Locsin |
227 |
| Mass Newborn Screening for Hearing Impairment |
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| R Joseph, HKK Tan, KT Low, PG Ng, J Tunnel, S Mathew |
229 |
| Newborn Hearing Screening Using the Evoked Otoacoustic Emission: The Philippine General Hospital Experience |
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| MRTR Quintos, PFD Isleta, CC Chiong, GT Abes |
231 |
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| HUMAN GENOME PROJECT |
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| The Human Genome Project: Opportunities, Challenges and Consequences for Population Screening |
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| J Christodoulou |
234 |
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| BIRTH DEFECTS |
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| Birth Defects Ascertainment in the Philippines |
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| CD Padilla, EM Cutiongco, JM Sia |
239 |
| Prenatal Genetic Screening for Down Syndrome and Open Neural Tube Defects Using Maternal Serum Markers in Thai
Pregnant Women |
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| P Wasant and S Liarnrnongkolkul |
244 |
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