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PubMedDate not supplied

Specific enzymatic assay method for homocysteine and its application to the screening of neonatal homocystinuria.

A simple and specific enzymatic assay method for homocysteine is described. The method is based on the formation of S-adenosylhomocysteine from adenosine and homocysteine through the catalysis of S-adenosylhomocysteine hydrolase (EC 3.3.1.1), followed by its separation by high-performance liquid chromatography. The results for human blood, serum, and urine and those extracted from filter paper showed good correlation with those obtained on measurement with a conventional amino acid analyzer, which demonstrates that the method is useful for neonatal screening for homocystinuria.

Adenosylhomocysteinase↗
PubMed1983

Screening for neonatal Duchenne muscular dystrophy by bioluminescence measurement of creatine kinase in a blood sample spotted on paper.

Neonatal screening for Duchenne-type muscular dystrophy is greatly simplified by use of a new bioluminescence procedure for creatine kinase. The blood of newborn myopathic children consistently showed increased activity. The improved method permits the analysis from a dried sample of whole blood spotted on filter paper; it shows high correlation with existing procedures and is highly specific and precise. The use of the improved method in a screening program involving 158 000 newborns is reviewed. We find a prevalence of 1/5929 living eighth-day boys.

Adenosine Triphosphate↗
PubMed2001

A Two-stage bipodal screening model for universal neonatal hearing screening.

OBJECTIVE: A model is proposed for universal neonatal hearing screening. METHODS: The screening model is two-staged because it consists of a first test and, in case of failure (1.4% of the subjects), of a retest 3 weeks later. It is bipodal because it involves both the hospital audiologic department and a central Well Baby Organization. The idea is to have a maximal number of newborns tested at the maternity by trained audiologists and to have the Well Baby Organization trace and chase the missing subjects. The model has been evaluated during 1 calendar year (1999) in a maternity with 2,012 newborns. RESULT: The result is a coverage of 99.3%. Most newborns (97.3%) were tested at the maternity ward with a total time investment of less than 15 minutes per child. The actual test time is 2 minutes, 12 seconds (median value). The Well Baby Organization keeps track of all the results and has to test no more than 2% of the newborns. Sensitivity and specificity were not the primary outcomes of this evaluation, but they were similar to those of a previous study evaluating the screen procedure on a larger scale, giving a sensitivity of approximately 100% and a false alarm rate of 1/1,000. CONCLUSION: These figures demonstrate that universal neonatal hearing screening is feasible within the existing health care structure, with unprecedented coverage, sensitivity, and specificity.

Belgium↗
PubMed1999

Preventive aspects of genetic morbidity: experiences of the Canadian model.

Genetic disorders are emerging as a major health problem in industrialized countries, especially with greater control of environmental diseases. Of total admissions to major paediatric hospitals, 50% are due to genetic disorders, and at least 10% of all adult admissions to hospitals involve major genetic contributions. Several programmes aimed at preventing or ameliorating these genetic disorders are being implemented. Identifying people at risk of genetic disease has helped decrease the burden of such diseases on families and society. Early recognition also leads to greater success of treatment and improves outcome and prognosis. In Arab populations, genetic disorders are still not perceived as a major health problem, even though they are widely prevalent. Applying similar programmes of early detection, maternal screening, neonatal screening, carrier testing and susceptibility testing will significantly help reduce the impact of these disorders in our populations.

Algorithms↗
PubMed2003

National neonatal hypothyroid screening program in Mongolia.

This study was motivated by the desire to identify patients with congenital hypothyroidism for early treatment. A pilot project was developed by the Department of Nuclear Medicine and initial screening was began at 2 of the maternity houses in Ulaanbaatar. The methodology used for these activities involved collecting samples by heel prick at 3-4 days of age and analysed for TSH by immunoradiometric testing (Skybio Ltd, United Kingdom). From July 2000 to September 2001, 1,529 babies were screened. Although there were no positive screens from neonatal screening, TSH was high and T4 was low in 2 cases referred by the endocrinologist and therefore leading to treatment. The programme appears to be of important significance to the country and thus committed to further improving the implementation of the program.

Congenital Hypothyroidism↗
PubMed2002

Neonatal biochemical screening for disease.

BACKGROUND: The practice of screening the neonatal population for certain diseases by biochemical testing of a dried blood spot is an established public health initiative in many countries. The diseases for which screening is done vary from region to region, based on ethnic, financial and political considerations. Criteria have been established to identify diseases suitable for neonatal screening. DISEASES SCREENED: In Western countries, screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) has been introduced throughout. Subsequently, cost-benefit analysis has confirmed the existence of a financial benefit. Other diseases screened for in some regions include galactosemia, aminoacidemias and organic acidemias, cystic fibrosis, congenital adrenal hyperplasia, biotinidase deficiency, hemoglobinopathies, glucose-6-phosphate dehydrogenase deficiency, and Duchenne muscular dystrophy, although in no case has a clear financial benefit been established. CONCLUSIONS: Since the introduction of neonatal screening over 40 years ago, new methods have resulted in an increase in the number of diseases amenable to screening, better automation and greater specificity. Methods currently used include growth of an inhibited bacterial auxotroph (the original phenylalanine (phe) method of Dr. Robert Guthrie), spectrophotometry, fluorometry, immunoassay, and tandem mass spectrometry with electrospray ionization.

Adrenal Hyperplasia, Congenital↗
PubMed1993

The Munich screening programme in neonates.

For development, it is necessary to stimulate the auditory pathway during the first weeks of life. This knowledge and improved techniques for the treatment of young children with hearing loss make early detection even more important, otherwise developmental disabilities inevitably occur. The method of transient-evoked otoacoustic emissions is the most useful test for neonatal screening and has the following advantages: emissions are quickly measured (i.e. within a few minutes), the measurements can be performed in the hospital nursery by trained volunteer examiners, the test produces the same results in awake, anaesthetized, sedated, and sleeping patients, and the existence of TEOAEs excludes with very high probability a peripheral hearing loss which may influence the development of speech. A prerequisite of a successful evaluation with crying and moving neonates is an apparatus with two specific rejection thresholds; one for time, the second for amplitude. Additionally, the probe has to be robust, but also small both to minimize its weight and to fit comfortably within the diameter of the neonatal ear canal.

Acoustic Impedance Tests↗
PubMed2001

Project of the countrywide data collecting system for neonatal hearing screening programme in Poland.

Neonatal hearing screening is becoming a standard of care in increasing number of hospitals and outpatient departments in Poland. A project of central data collecting system applicable to a neonatal hearing screening programme has been elaborated as a preparation to introducing a countrywide screening programme. The data collecting system will be based on the currently existing central system for the registration of neonatal screening tests for metabolic diseases. Data on risk factors for hearing loss and hearing screening test results will be collected. A central data collecting system for a neonatal hearing screening programme will increase the efficiency of the screening programme and facilitate epidemiological studies.

Data Collection↗
PubMedDate not supplied

[Sonographic screening of neonates' hips. Analysis of the years 1986-1988 and comparison with 1977-1979].

Establishing a sonographical neonate hip screening program in three nearby counties has made us able to simplify our management in socalled "congenital dysplasia of the hip". Earliest diagnosis has led to a percentage of conservative treatment of 95% and therefore to a reduction of surgical interventions and less inpatient treatment. Our results force us to urge a state covering sonographical neonate hip screening done by educated specialists (Orthopaedic surgeons, Paediatricians, Radiologists).

Hip Dislocation, Congenital↗
PubMed2004

[Screening for phenylketonuria and congenital hypothyroidism in 5.8 million neonates in China].

OBJECTIVES: To summarize neonatal screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) in China, to further clarify incidence of the two kinds of diseases in newly-born babies, and to explore issues in neonatal screening and their solutions. METHODS: Neonatal screening for PKU and CH was conducted by 39 neonatal screening centers all over the country, sponsored by the Group of Neonatal Screening, Chinese Society of Child Health Care, Chinese Preventive Medical Association and the Center for Neonatal Screening Quality Control Laboratory, National Center for Clinical Laboratories (NCCL). In each infant a heel prick blood sample was collected at 72 hours postnatal onto standard filter paper. PKU was screened by bacterial inhibition assay and fluorometric method, and CH was screened by TSH measurement by time-resolved fluorescence immunoassay (TRFIA), fluorescence enzyme immunoassay (FEIA) and enzyme immunoassay (EIA). RESULTS: From 1985 to 2001 in China, totally of 5 817 280 newborns were screened for PKU, 522 cases of PKU detected with an incidence of 1:11 144, and 5 524 019 newborns were screened for CH, 1 836 cases of CH detected with an incidence of 1:3 009. Annual average number of newborns screened for congenital genetic diseases was increased by 45.5% in recent six years. CONCLUSIONS: Neonatal screening was developed quickly in China in recent years, especially in some developed cities, such as Shanghai with a coverage of 98.3% in 2001. But, its coverage was about only 10% in China as a whole. In development of neonatal screening, it is necessary to attach more importance to quality of screening and increasing coverage of screening, as well as gradual development of new screening techniques for other neonatal preventable diseases, in addition to PKU and CH, and their application, and improvement of level of child health care in China.

China↗
PubMed1999

Auditory screening in neonates by means of transient evoked otoacoustic emissions: a report of 2,842 recordings.

The principal goal of an early identification program is to identify hearing impairment present at birth, in order to effect appropriate intervention as early as possible. Although recent research provides some evidence for the value of transient evoked otoacoustic emissions (TEOAEs) in neonate hearing screening, data are needed from large-scale clinical evaluations about the value of using TEOAEs for screening not only high-risk but also healthy neonates. A cohort of 1,421 neonates (2,842 ears) from the well-baby nursery was screened with TEOAEs in a 2-stage process. Neonates were referred from the first test prior to being discharged from the hospital. Those who failed were rescreened before the end of the first month. Those who did not pass the second-stage TEOAE screening were referred for diagnostic audiological evaluation for confirmation of hearing loss. Neonates transferred to a neonatal intensive care unit were not included in this study. Two neonates with bilateral sensorineural hearing loss of >40 dB hearing level were identified from this cohort. This study demonstrates the feasibility and the limitations of using TEOAEs as a universal hearing screening tool for all neonates. It confirms that the prevalence of hearing impairment in neonates has to be taken into account, even in a group of children without high-risk criteria. In France, a prevalence of 1.4 per 1,000 would represent 1,000 deaf children born every year, with reference to about 700,000 births per year. This study suggests that such universal screening programs would substantially increase the rate of early-identified infants with significant hearing impairment.

Acoustic Stimulation↗
PubMed1985

Screening for neonatal hypothyroidism in Israel during a 4-year period.

The neonatal hypothyroidism (NH) screening program in Israel was initiated in May 1978, and by the end of April 1984, 538,565 infants had been screened. One hundred sixty-six newborns were found to have NH; 7 of these exhibited only transient hypothyroidism. During the screening period the average age for initiation of treatment decreased from 6 to 4.8 weeks. A thyroid scan was performed on 51 of the neonates with NH; 41% had agenesis of the thyroid, 24% ectopic thyroid tissue, 29% dyshormonogenesis, and 6% secondary or tertiary hypothyroidism. This high incidence of dyshormonogenesis in Israel is probably due to a high rate of consanguinity among the Arab population and also within some of the Jewish ethnic groups. No blood sample was received from four infants with NH, and one infant with NH was not notified. This study indicates that a neonatal screening program can effectively detect infants with NH, resulting in earlier treatment.

Congenital Hypothyroidism↗