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Results for “Neonatal Screening”

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At least 307 records · Page 17Linked to original sources

PubMed1989

Enzyme-linked immunosorbent assay of apolipoprotein B in blood spotted onto filter paper, suitable for neonatal screening.

This assay was developed to measure apolipoprotein (apo) B in blood samples spotted onto filter paper. The long-term aim is to detect young families with the dominantly inherited familial hypercholesterolemia, during current neonatal screening programs. The interassay CV was 5.6%, and apo B concentrations correlated closely with values measured by radial immunodiffusion. In the present assay, the primary apo B standard selected and the serum samples behaved similarly. Use of Triton X-100 in the extraction of apo B from dried blood prevented the decrease in apo B immunoreactivity that otherwise occurred during storage for 20 days at 4 degrees C. In 57 neonates two to six days postpartum, the mean (and SD) apo B concentration in whole blood was 186 (78) mg/L, and the apo A-I/apo B ratio was higher in female than in male neonates (P less than 0.001), as is also true for adults. The assay is suitable for use in screening programs for newborns, and the observations add to our understanding of lipid metabolism in neonates.

Apolipoproteins B↗

PubMed1997

[Results and considerations regarding auditory neonatal screening based on the use of transient evoked otoacoustic emission].

The authors present a 5-year clinical experience in audiological screening performed at the neonatal center of the Policlinico of Perugia, Italy. The study was performed using an IL088 Otodynamics unit produced by Bray & Kemp. A total of 1328 newborns (2656 ears) were tested on the 4th day of life and during spontaneous sleep. None of the children had any audiological risk factors. The test was repeated one month later for all subjects who lacked Transient Evoked Otoacoustic Emissions and in many cases ABR testing was performed by 3 months of age. The authors present the undoubted advantages of the present method which include the fact that it is a) easy to perform, b) non invasive, c) sensitive and d) effective. They then discuss the main problems which arose during the course of the screening and advance some solutions. For the most part these problems involved the high number of false positives (13.1%) and the high percentage of subjects who were lost to subsequent controls (approximately 6% of the total population). The number of false positives could be reduced by using a linear acoustic stimulation (rather than the non-linear stimulation which is the default parameter for the machine). Such a linear stimulation can improve the signal-to-noise ratio, thus making it possible to adopt a reproducibility index lower than the 70% presently used (however, this brings with it the risk of including a certain number of false negatives). Finally, they discuss the possibility of only retesting those subjects with bilateral lack of TEOAEs, thus reducing the number of check-ups to be performed a month later.

Acoustic Stimulation↗

PubMed1988

Neonatal screening for amino acidaemias in Karnataka, south India.

Consanguineous marriages are strongly favoured among the peoples of South India. Because of the potential genetic risks resulting from inbreeding, a neonatal screening project was established in 1980 in the state of Karnataka for the identification of amino acidaemias. To date, blood samples obtained by toe-stab from 98,256 neonates have been tested by thin layer chromatography, with 46 single and 70 general amino acidaemias detected. The coefficients of inbreeding (F) for the two groups of neonates were 0.0336 and 0.0350, by comparison with a previously determined F value for the general, new-born population of 0.0298. The most common single abnormality detected was tyrosinaemia, with spontaneous resolution in the majority of cases.

Amino Acid Metabolism, Inborn Errors↗

PubMedDate not supplied

Neonatal screening by mid-arm circumference.

One hundred and ninety-seven neonates were screened within 24 hours after birth by a tricolored mid-arm circumference (MAC) measuring tape with a borderline yellow-zone between 7.5 cm and 8.5 cm and two peripheral zones, red and green beyond 7.5 cm and 8.5 cm respectively. All of the neonates identified by red-zone had birth weight less than 1500 g. Majority (89.7%) of neonates identified by yellow-zone had birth weight between 1500 g and 2000 g, but only a small (10.3%) number of neonates had birth weight more than 2000 g. A very large proportion of neonates identified by green-zone had birth weight more than 2000 g (98.8% vs 1.2% weighed less than 2000 g at birth). The sensitivity and specificity of MAC critical limit 8.5 cm identifying neonate below 2000 g were 93.7% and 98.2% respectively. It was not worthy in this study to calculate the sensitivity and specificity of the critical limit of 7.5 cm for MAC to identify neonates below 1500 g because of the very small sample size. But, this simple MAC measuring tape can be used by field worker for easy assessment of low birth weight neonates.

Arm↗

PubMed1983

[Thyroid ectopia, a cause of error in neonatal screening for hypothyroidism].

The authors report the case of a boy presenting with hypothyroidism due to ectopic thyroid, diagnosed at age 3 years. The results of neonatal screening for hypothyroidism (T4 + TSH) had been normal. A large ectopic thyroid might have been responsible for normal levels of thyroid hormone at birth.

Child, Preschool↗

PubMed1981

Routine neonatal screening for phenylketonuria in the United Kingdom 1964-78. Medical Research Council Steering Committee for the MRC/DHSS Phenylketonuria Register.

From 1964 to 1968, despite a general policy of routine neonatal screening for phenylketonuria that was usually carried out using the Phenistix nappy test, half to one-quarter of all cases reported to the register had been missed in the screening programme and had not been detected before the age of 4 months. In about two-thirds of the "missed" cases no screening test had been carried out, and in one-third a urine test had been performed but had given a false-negative result. In 1968-9 the screening programme was reorganised according to recommendations made in a Government circular (HM (69) 72), which proposed that a specimen of blood should be obtained by heel prick from all newborn infants between the 6th and 14th day of life and be tested in a central laboratory for the presence of raised blood phenylalanine concentrations. The senior medical officers of the various regions were made responsible for ensuring that all infants were tested. By 1974 only 1 to 2% of surviving infants were not being tested for phenylketonuria in the neonatal period, and only five of the 357 cases born between 1974 and 1978 and notified to the register had been diagnosed after the age of 3 months.

False Negative Reactions↗

PubMed2001

[Neonatal screening for sickle cell anemia: evaluation of a five-year experience in an area of northern Paris].

UNLABELLED: We report a five-year experience of targeted neonatal screening for sickle cell disease in the northern part of the Paris area as well as the follow-up procedure of screened patients. POPULATION: This geographic area in France is characterized by a high frequency of populations at risk for sickle cell disease. RESULTS: Among 115,480 tested newborns, 250 patients were diagnosed (frequency: 1/462). The quality of the screening was attested by the high frequency (5.34%) of newborn carriers for a hemoglobin abnormality (n = 6168). We developed an optimized strategy which avoids the majority of pitfalls (false positive and false negative responses), except for S/HPFH. More than 95% of sickle cell disease was followed, the majority by medical sickle cell disease experts from hospitals. Only two deaths were recorded during this time period. CONCLUSION: We demonstrate the efficiency of targeting the proposed methodological strategy and the follow-up of affected newborns, a major argument demonstrating the importance of newborn screening.

Anemia, Sickle Cell↗

PubMed1988

Neonatal screening: life-stress scores in families given a false-positive result.

In a previous study the psychological reactions to a false-positive result of a neonatal screening test were studied in 102 families. The present study deals with life-stress factors in the same families at the time of screening. The number of factors are used to denote a life-stress score and the families have been divided into two groups: those with high and those with low scores. The children's physical health during the first year and the changes in the families during the five years after the screening have also been investigated. There were no large differences between the two groups of families; however, the mothers in families with high scores more often breastfed their children for less than two months, more frequently required medical care during the infants' first year of life and were more often separated during the first five years.

Adaptation, Psychological↗

PubMed1990

[Neonatal screening for phenylketonuria and hypothyroidism. An optimizing system].

Screening for phenylketonuria and hypothyroidism in neonates is currently performed on blood samples collected on the 5th day of life. The efficacy of blood-sampling is evaluated subsequently. Double-sampled and non-sampled children are not always identified. We present a system which provides complete control of child, and was tested experimentally over one year on the 4,260 births in a maternity hospital. The sampling done by the maternity hospital as very thorough: only 0.47% of the children were not sampled spontaneously (ET = 1.07 10(-3)). The sampling of children transferred to pediatric units before the 5th day was a little less rigorous: 6.06% were not sampled before the telephone reminder (ET = 1.86 10(-2)). After a year our system ensured a 100% sampling after identification and telephone reminder for non sampled children, and allowed us to spot and count cases of double-sampling.

Hospital Information Systems↗

PubMed1989

Neonatal screening for cystic fibrosis in Wisconsin.

Primary care physicians have been very cooperative in referring screened patients to the two designated CF centers in Wisconsin--the University of Wisconsin Cystic Fibrosis Center, and the center at the Medical College of Wisconsin in Milwaukee--and their help has made this study possible. By 1990, we anticipate that meaningful clinical comparisons between the screened and control groups will be possible, and at that time we can begin to obtain some definitive answers concerning the benefits and potential risks of neonatal screening for cystic fibrosis. At this time, it would be premature to make a decision concerning the efficacy of screening for cystic fibrosis for the State of Wisconsin. It is very important that the study go to completion before making conclusive recommendations. We are eager to meticulously document the natural history of CF by following study patients for a long time. Answers to questions concerning rate of decline of the IRT value in true positives, psychosocial risks of screening to true positives, effect on future reproductive plans, and the cost effectiveness of the screening program will not be available for at least two more years. False positive IRT results seem to be related to perinatal asphyxia. We postulate the mechanism is ischemia in the pancreas related to hypoxia during the perinatal period leading to transient release of trypsin from the pancreas into the bloodstream. Decline of the IRT result over time is of great interest because a repeat blood sampling approach would hopefully eliminate several false positives.(ABSTRACT TRUNCATED AT 250 WORDS)

Cystic Fibrosis↗

PubMed1992

Neonatal screening for hip joint instability. Its clinical and economic relevance.

Effort to determine the efficacy of neonatal hip examination began in 1967. During the subsequent 23 years, there have been three analyses of the study's data: (1) a retrospective review reported in 1981, (2) a prospective examination in 1989, and (3) an economic evaluation in 1990. The retrospective review concluded that a neonatal hip screening program effectively screens for acetabular dysplasia, and early treatment seems to alter the outcome of congenital dislocation of the hip. The prospective examination, involving 62 newborns diagnosed as having dislocated or dislocatable hips, established that such cases can be effectively treated from birth with flexion/abduction splints monitored by routine clinical and follow-up examinations. An economic evaluation of the data demonstrated an economic benefit of more than $15,000 Cdn per 1000 infants screened. This study, through these three analyses, presents a compelling argument in favor of a routine, standardized neonatal hip examination.

False Negative Reactions↗

PubMed2001

Neonatal screening program for congenital adrenal hyperplasia: adjustments to the recall protocol.

OBJECTIVE: To evaluate the influence of gestational age (GA) and birth weight (BW) on 17 alpha-OH-progesterone (17-OHP) levels with respect to their impact on the recall rate of neonatal screening programs for congenital adrenal hyperplasia (CAH). PATIENTS AND METHODS: In June 1997 we began a pilot screening program for CAH measuring 17-OHP using a fluoroimmunoassay method (DELFIA) on dried blood spots. Until September 1999, 24,153 babies were screened. Among them, we analyzed the levels of 17-OHP in 1,313 samples from healthy preterm babies (23-36 weeks) and 1,500 term babies (>37 weeks), grouped according to GA and BW. All preterm babies underwent another sampling in their 2nd week of life. RESULTS: 5 CAHs were detected. The 30-nmol/l cutoff limit for 17-OHP in blood corresponded to the calculated 99th percentile in term newborns, while in preterm babies higher levels were found. GA and BW correlated inversely with 17-OHP levels. CONCLUSION: GA and BW were useful tools to adjust cutoff levels, obtaining a significant reduction in follow-up testing and psychological stress for families. The high false-positive recall rate in preterm babies can be substantially lowered with adjusted GA and/or BW criteria.

17-alpha-Hydroxyprogesterone↗

PubMed1998

[Neonatal screening in Denmark. Status and future perspectives].

In Denmark, the Faroe Islands, and Greenland, comprehensive screening of newborns for phenylketonuria and congenital hypothyroidism has been carried out for 20 years. The screening programme has detected 98 and 356 patients, respectively, corresponding to incidences of 1:12,000 and 1:3,400. The future savings on health care expenditures resulting from one year of neonatal screening are estimated to be 196 million DKK in present day value, which is 28 times higher than the cost of screening. The screening samples are stored in a biobank, which is used in diagnosis of congenital diseases and infant deaths and for development of future screening methods. It is desirable to expand the existing screening programme to include a range of rare inherited metabolic diseases, which collectively are frequent. This is realistic with the advent of tandem mass spectrometry, which allows cost-effective simultaneous screening for a group of inborn errors of metabolism.

Cost-Benefit Analysis↗

PubMed2001

Neonatal ketosis is not rare: experience of neonatal screening using gas chromatography-mass spectrometry.

The causes and effects of transient neonatal ketosis, discovered during a pilot study of screening for abnormalities in neonatal metabolism using gas chromatography-mass spectrometry, were investigated. Of the 21,342 neonates that were screened, 47 had significant ketosis. The organic acid profile accompanying ketosis in the urine of neonates followed the pattern of ketotic dicarboxylic aciduria in approximately half of the cases. Ketosis was more often found in neonates nourished by breast feeding (33 out of 47). Over half of the neonates showing ketosis (28 out of 47) were asymptomatic. When normal neonates and neonates testing positive for ketosis were compared, no statistically significant correlations were found with regard to birth mass, gestational period, or gender. However, neonates with ketosis tended to have low mass gain rates in the 5 days from birth and a statistically significant difference was found in this regard in comparison to normal neonates (P<0.0001). From the above results, development of ketosis in neonates was found to be possible even in normal subjects. Most ketosis in neonates was also found to depend largely on nourishment after birth. Existence of an asymptomatic ketosis category was also suggested.

Gas Chromatography-Mass Spectrometry↗

PubMed2001

Neonatal screening for haemoglobinopathies: the results of a 10-year programme in an English Health Region.

Neonatal identification of sickle cell disease can significantly reduce mortality and morbidity during the first 5 years of life. During a 10-year period, 414,801 neonates were screened by isoelectric focusing. The most common variants detected were haemoglobins S, C, D and E. Two hundred and fifty of the samples tested were homozygotes or compound heterozygotes, and 6554 samples were heterozygotes for the common variants. The gene frequencies in the population tested were calculated from this data for the most common variants. They were: S, 0.0057; C, 0.0014; D(Punjab(Los Angeles)), 0.0007; E, 0.0005. Additionally, 16 babies had beta thalassaemia major and 405 had rarer variants, of which six had never previously been described. Knowledge of the distribution of these inherited diseases is useful in healthcare planning and appropriate allocation of resources, while counselling targeted at appropriate couples enables informed parental choice and may prevent disease.

Anemia, Sickle Cell↗

PubMed1987

[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 2. Analysis of steroids with high-performance liquid chromatography for diagnosis of congenital adrenal hyperplasia].

A quantitative analysis of steroids in serum, dried blood samples on filter paper and amniotic fluid with high-performance liquid chromatography has been developed and applied to the diagnosis of risk infants on neonatal screening for congenital adrenal hyperplasia. The present method is simple, rapid and accurate. The detection limits of cortisol and 17 alpha-hydroxyprogesterone are 0.2 ng and 0.3 ng, respectively. The twenty-two steroids can be analysed within 60 minutes using the isogradient mobile phase. The method is highly correlated with radioimmunoassay and enzymeimmunoassay. In 4 patients with the salt-losing form, 17 alpha-hydroxyprogesterone was higher and cortisol lower than in 4 patients with the simple-virilizing form. This method seems suitable for the routine clinical elucidation of congenital adrenal hyperplasia.

17-alpha-Hydroxyprogesterone↗

PubMedDate not supplied

[Ultrasonic neonatal screening of congenital hip dislocation].

Routine echographical neonatal diagnosis of congenital dislocation of the hip is today a good method of treatment of this pathology: early diagnosis, infarct, allows treatment in early years with complete healing as shown by long term follow-up. 596 newborns have met with echographic hip screening: the method has shown good result and the study has led us to realize an anamnestical schema pointed on the familiarity which is one of the pathognomic matters of this pathology.

Hip Dislocation, Congenital↗

PubMed1982

Duchenne's muscular dystrophy in six siblings. The case for early diagnosis and neonatal screening.

Six brothers aged from 15 months to 13 years with confirmed Duchenne's muscular dystrophy are described. The serum creatine kinase levels ranged from 2420 IU/I in the youngest boy to 769 IU/I in the eldest. The diagnosis of Duchenne's muscular dystrophy was only made when the eldest boy was 13 years old, despite the fact that his parents had sought medical advice when he was 5. The importance of early diagnosis, detection of carriers and neonatal screening is discussed in relation to the prevention of Duchenne's muscular dystrophy.

Adolescent↗