OBJECTIVES: To develop a quality control indicator system for neonatal screening of inherited metabolic diseases in obstetric settings, so as to provide a standardized tool for quality control in clinical neonatal screening of inherited metabolic diseases. METHODS: From March to May 2024, a literature review combined with expert clinical experience was conducted to develop a preliminary questionnaire on quality control indicators for neonatal screening of inherited metabolic diseases. The final indicator system was established after two rounds of the Delphi method, and the Analytic Hierarchy Process was used to determine indicator weights. RESULTS: Sixteen questionnaires were distributed in each of the two consultation rounds, with a valid response rate of 100% for both. The expert authority coefficients were 0.863 and 0.876, respectively. Kendall's coefficient of concordance for the importance and feasibility of the indicators ranged from 0.091 to 0.125. The final indicator system comprised 3 primary indicators, 8 secondary indicators, and 28 tertiary indicators for neonatal screening of inherited metabolic diseases in obstetric settings. CONCLUSIONS The quality control indicator system developed using the Delphi method demonstrates a strong systematic structure, high clinical adaptability, and strong operability, and can be effectively applied to quality control in neonatal screening of inherited metabolic diseases in obstetric settings.
Humans ; Infant, Newborn ; Neonatal Screening/standards* ; Quality Control ; Metabolism, Inborn Errors/diagnosis* ; Metabolic Diseases/diagnosis* ; Delphi Technique ; Female ; Quality Indicators, Health Care ; Pregnancy

OBJECTIVE: To explore effects of different delivery and storage conditions on concentrations of amino acids and carnitines in neonatal dried blood spots (DBS), so as to provide evidence for improving accurate and reliable detection by tandem mass spectrometry. METHODS: A total of 1 254 616 newborn DBS samples in Newborn Screening Center of Zhejiang Province were delivered and stored at room temperature (group A, RESULTS: The concentrations of amino acids and carnitines in the three groups were skewed, and the differences in amino acid and carnitine concentrations among groups were statistically significant (all CONCLUSIONS Cold-chain logistics system and storage in low temperature and low humidity can effectively reduce degradation of some amino acids and carnitines in DBS, improve the accuracy and reliability of detection, and thus ensures the quality of screening for neonatal metabolic diseases.
Amino Acids/analysis* ; Carnitine/analysis* ; Dried Blood Spot Testing/standards* ; Humans ; Humidity ; Infant, Newborn ; Neonatal Screening ; Reproducibility of Results ; Specimen Handling/standards* ; Tandem Mass Spectrometry ; Temperature ; Time Factors

Blood Glucose ; analysis ; Capillaries ; metabolism ; Humans ; Hypoglycemia ; diagnosis ; Infant, Newborn ; Neonatal Screening ; methods ; Reference Standards

When I started the neonatal screening in Japan, I could not obtain the necessary information for establishing the national screening system in my own country. Thus, around 1970, I visited H. Bickel, R. Guthrie and several other experts in the field of the neonatal screening in USA and Europe. Through their help, I could learn: (i) the philosophy of the world of screening, (ii) the way to improve the basic techniques in this field and (iii) the way to improve the level of screening. On the other hand, I realised that in some countries, people received imprecise information from non-authoritative sources. I also realised that it was difficult for people in developing countries to meet experts of other countries. Therefore, when I was appointed the first president of International Society of Neonatal Screening (ISNS), I proposed to have the regional meetings held in many areas. In this report, I explained how we were asked to establish the national screening system in Japan through the support of experts around the world. I hope that people will understand the reason why I proposed that regional meetings of the ISNS be held in various locations.
Congresses as Topic ; Humans ; Infant, Newborn ; International Cooperation ; Japan ; Neonatal Screening ; organization & administration ; standards ; Societies, Medical

The lack of a national policy on newborn screening (NBS) in the United States has resulted in 51 state-specific NBS policies (including 50 states and the District of Columbia). In 2000, a working group of the American Academy of Pediatrics provided a national NBS blueprint for the future. Using this guidance, the Health Resources and Services Administration contracted with the American College of Medical Genetics to: (i) develop a decision-making algorithm for states to use in selecting conditions for screening panels, and (ii) recommend a panel of tests to guide states in their screening requirements. This report outlines and summarises the processes and outcomes leading to the current NBS recommendations in the United States.
Humans ; Infant, Newborn ; Neonatal Screening ; methods ; standards ; United States

Nationwide neonatal mass screening for inherited metabolic diseases has started in Japan since 1977. At least 8000 children have probably been spared from handicaps resulting from such diseases over the past 30 years. Recently remarkable changes have been made to the evolving neonatal screening system. Declining birth rate and economic problems in Japan have demanded a more effective neonatal screening system. Development of new innovative screening methods and treatment tools, e.g. tandem mass spectrometry (MS/MS) technology and enzyme replacement therapy for mucopolysaccharidosis (MPS), have facilitated expansion of target diseases in neonatal screening. We have carried out pilot screening using MS/MS in 6 laboratories in Japan. The incidence of inherited metabolic diseases was found to be 1 in 9330 (65 cases out of 606,380 babies screened) during the period between 1997 and 2007. The incidence was lower than those of Europe or USA (about 1 in 4000 to 5000). The disease frequency between unscreened symptomatic cases and asymptomatic cases detected through MS/MS screening were also found to be different. In MS/MS screening, the most common organic acidemia was propionic acidemia, whereas in symptomatic cases, methylmalonic acidemia was the most common. Further study of ethnic diversity in severity of propionic academia is required. The outcomes of patients detected in the MS/MS screening were significantly favourable. The results showed the benefits of MS/ MS screening. The diagnostic support network for gas chromatography-mass spectrometry (GC/ MS) analysis and enzyme determination has also been developed. We have developed an automated system of GC/MS data processing and auto-diagnosis which allowed the GC/MS data processing to be extremely fast and simple. Enzyme evaluation for diagnostic support for screening, including a method using peripheral blood and high performance liquid chromatography (HPLC), and another method of in-vitro probe assay using cultured cells and MS/MS. Furthermore, re-location of screening laboratories for a more efficient screening network will be required such that at least 30,000 samples can be analysed in each laboratory.
Humans ; Infant, Newborn ; Japan ; Metabolism, Inborn Errors ; diagnosis ; Neonatal Screening ; methods ; organization & administration ; standards ; Tandem Mass Spectrometry

The challenge of newborn screening programmes is to maximise benefits and minimise harms. These harms include pain inflicted as a result of taking the test, reduced by pain relief and training of specimen takers; from false positive and negative test results (impacting both affected families and healthcare professionals), minimised effectively by taking the sample at the correct time, precise and specific tests, appropriate disorder definition, well chosen cut-offs (which may be informed by a large series of diagnosed cases of the screened disorders) second-tier tests, age adjusted normal ranges and anxiety which may be appropriate but limited by the availability of information. Programme audit is important in early detection of problems.
Humans ; Infant, Newborn ; Neonatal Screening ; adverse effects ; standards

Newborn Screening is a well recognised public health programme aimed at the early identification of infants who are affected by certain genetic/metabolic/infectious conditions. Early identification of these conditions is particularly crucial, since timely intervention can lead to a significant reduced morbidity, mortality, and associated disabilities in affected infants. Establishing sustainable newborn screening programmes in developing countries poses major challenges as it competes with other health priorities--infectious disease control, immunisation, malnutrition, etc. Despite this, it is imperative that developing countries recognise the importance of newborn screening based on experiences on both developed and developing countries in saving thousands of babies from mental retardation, death and other complications. Some of the critical factors necessary for a successful national newborn screening programme are inclusion of newborn screening among government priorities, funding (including the possibility of newborn screening fees), public acceptance, health practitioners cooperation, and government participation in institutionalising the newborn screening system. This paper presents a historical review of 4 eras of newborn screening in the Asia Pacific, discusses enabling factors leading to successful newborn screening programme implementation, and identifies obstacles that threaten the programme implementation in developing countries.
Developing Countries ; Humans ; Infant, Newborn ; Neonatal Screening ; standards

INTRODUCTIONThe nationwide neonatal screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency in Taiwan was started on 1 July 1987. A network of G6PD referral hospitals distributed all around Taiwan was organised for follow-up, confirmatory testing, medical care and genetic counselling. To assess the reliability of confirmatory and screening tests, an external quality assurance (QA) programme for G6PD assay was developed.

MATERIALS AND METHODSLyophilised quality control (QC) materials and dried blood spots were prepared from erythrocytes and whole blood for confirmatory and screening tests, respectively. The external QA surveys were carried out every 1 to 2 months. The QA results were evaluated and compared to the consensus result and reference value. The test results were submitted through internet by participating laboratories and the summary reports were published on a webpage (http:// www.g6pd.tw) within 2 weeks.

RESULTSTwenty-one referral laboratories in Taiwan and 16 screening laboratories in Germany, Lebanon, Mainland China, Philippines, Thailand, Taiwan, Turkey, and Vietnam have been participating in the QA programme. From 1988 to 2007, 144 QA surveys for confirmatory testing were sent to referral laboratories. Among the 2,622 reports received, 292 (11.1%) were found to be abnormal. Interlaboratory coefficient of variation (CV) for the confirmatory test has reached below 10% in recent years. The significant improvement in interlaboratory CV was found to be correlated with the preventive site visits to the referral laboratories since November 2004. From 1999 to 2007, 52 external QA surveys for the screening test were performed. Among 504 reports received, 97 (19.2%) were found to be abnormal. From the 5040 blood spots tested by the screening laboratories, 95 false negative (1.9%) and 187 false positive (3.7%) results were reported.

CONCLUSIONSThe external QA programme has been useful for monitoring the performance of the referral hospitals and screening laboratories and helpful for the participating laboratories to improve their test quality.

Over the last 40 years newborn screening has been an undoubted success and many thousands of children have been saved from mental retardation and other problems because of early diagnosis of their disorders. Now many diseases can be diagnosed early by newborn screening and many more are on the horizon. It must be a long-term goal to extend newborn screening tests to all children but, in areas of the world where healthcare delivery is insufficient, solving other health problems has to take precedence over introducing newborn screening. If it is decided to introduce newborn screening in a region where currently there is none screening for congenital hypothyroidism alone should be started before anything else at all is attempted so that proper systems can be put in place. There is an exciting future for newborn screening ahead. If new programmes are approached with proper caution maximal benefit will be achieved from newborn screening, which is one of the few clearly effective preventive strategies in healthcare.
Child ; Child Welfare ; Humans ; Infant, Newborn ; Neonatal Screening ; standards