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PubMed2002

Universal or selective screening of the neonatal hip using ultrasound? A prospective, randomised trial of 15,529 newborn infants.

The aim of this study was to evaluate whether universal (all neonates) or selective (neonates belonging to the risk groups) ultrasound screening of the hips should be recommended at birth. We carried out a prospective, randomised trial between 1988 and 1992, including all newborn infants at our hospital. A total of 15 529 infants was randomised to either clinical screening and ultrasound examination of all hips or clinical screening of all hips and ultrasound examination only of those at risk. The effect of the screening was assessed by the rate of late detection of congenital or developmental hip dysplasia in the two groups. During follow-up of between six and 11 years, only one late-detected hip dysplasia was seen in the universal group, compared with five in the subjective group, representing a rate of 0.13 and 0.65 per 1,000, respectively. The difference in late detection between the two groups was not statistically significant (p = 0.22). When clinical screening is of high quality, as in our study, the effect of an additional ultrasound examination, measured as late-presenting hip dysplasia, is marginal. Under such circumstances, we consider that universal ultrasound screening is not necessary, but recommend selective ultrasound screening for neonates with abnormal or suspicious clinical findings and those with risk factors for hip dysplasia.

Algorithms↗

PubMed2000

Prenatal and neonatal testing and screening: a double-edged sword.

This article describes some of the more commonly requested prenatal and neonatal screenings and diagnostic tests. Additionally, it outlines the incidence and etiology of specific conditions followed by treatment and counseling options. Finally, issues regarding the ethics involved in testing are discussed. Practical recommendations and responsibilities for the nurse are interwoven throughout the article.

Embryonic and Fetal Development↗

PubMed1993

External and middle ear status related to evoked otoacoustic emission in neonates.

OBJECTIVE: Screening auditory status prior to neonatal hospital discharge to identify newborns with severe hearing impairment is an important pediatric care priority. Evoked otoacoustic emission (OAE) testing is a quick noninvasive method. The purpose of this study was to determine the relationship between external auditory canal and middle ear status with click-evoked OAE. It was hypothesized that vernix caseosa, debris in the ear canal, and middle ear fluid contribute to the OAE fail rate. DESIGN: All neonates had an initial OAE examination. A second investigator, "blinded" to the results, examined all ears otoscopically, cleaned any obstructing debris, and repeated with a second OAE test. SETTING: All neonates were tested in a designated nursery at a mean age of 43 +/- 21 hours. PATIENTS: Forty-one full-term neonates were prospectively enrolled. INTERVENTION: The ear canals with debris were cleaned under direct vision with a pediatric swab dampened by an alcohol wipe. OUTCOME MEASURE: The primary outcome measure was the postcleaning OAE pass rate. RESULTS: The preotoscopic examination pass rate of 82 ears was 76%. The OAE pass rate improved to 91% after debris removal. CONCLUSIONS: The results indicate that the examination and cleaning of the external ear canal are important components of the neonatal screening process.

Acoustic Stimulation↗

PubMedDate not supplied

[Neonatal cystic fibrosis screening program in the state of Paraná: evaluation 30 months after implementation].

OBJECTIVES: To present and analyze the results of the National Neonatal Cystic Fibrosis Screening Program in Paraná, 30 months after its implementation. METHODS: This is a descriptive study, with an analysis of the data from the screening of around 98% of all neonates in the period from September 2001 to April 2004, undertaken at the Neonatal Screening Program laboratory of the Fundação Ecumênica de Proteção ao Excepcional do Paraná. Blood samples for the Guthrie test were collected on hospital discharge, ideally between the second and sixth days postpartum, and filter papers were sent for immunoreactive trypsin assay by the immunofluorometric method. Children whose immunoreactive trypsin assay results were > or = 70 ng/ml for two distinct samples during the first 30 days of life, were referred for sweat conductivity testing by the Wescor method. In cases when the result was greater than 50 mMol/l quantitative chlorine and/or sodium in sweat was assayed (iontophoresis with pilocarpine). RESULTS: From a total of 456,982 tests, 4,028 (0.9%) children presented a first immunoreactive trypsin assay above the cutoff point set. Four hundred and seventy-eight of these (12.5%) also had a second blood sample assayed with immunoreactive trypsin above 70 ng/ml and 56 (11.7%) of these were referred to specialized clinics after their sweat conductivity test results were above 50 mMol/l and 48 (0.01% of the total number of children screened) had a diagnosis of cystic fibrosis confirmed. The incidence for the state of Paraná was 1:9,520, although some children have not yet been fully investigated. CONCLUSIONS: Neonatal screening for cystic fibrosis in the State of Paraná, in accordance with Health Ministry directives, was a pioneering initiative for Brazil. Many patients were diagnosed early, even asymptomatic ones, which is a challenge to improving prognosis with this fatal disease.

Biomarkers↗

PubMed2003

Semiquantitative screening test for G6PD deficiency detects severe deficiency but misses a substantial proportion of partially-deficient females.

Neonatal screening for G6PD deficiency has long been established in many countries. The aim of the study was to determine whether the routine semiquantitative fluorescent spot test could detect all cases of G6PD deficiency, including those cases with partial deficiency (residual red cell G6PD activity between 20-60% of normal). We compared the results of G6PD screening by the semiquantitative fluorescent spot test and quantitative G6PD activity assay on a group of 976 neonates and 67 known female heterozygotes. The values for mean G6PD activity of G6PD-normal neonates and 293 healthy adult females were determined. There was no significant difference in the mean normal G6PD activity between the two racial groups in the neonates (669 Malays, 307 Chinese) and in the 293 healthy adult females (150 Malays, 143 Chinese) group. The values for the upper limits of total deficiency (20% of normal residual activity) for neonates and adult females were 2.92 U/gHb and 1.54 U/gHb, respectively. The upper limits of partial deficiency (60% of normal residual activity) were 8.7 U/gHb and 4.6 U/gHb respectively. The prevalence of G6PD deficiency among the male neonates was 5.1% (26) by both the fluorescent spot test and the enzyme assay method. The G6PD activity levels of all 26 cases of G6PD-deficient male neonates were < 20% normal (severe enzyme deficiency). In the female neonate group, the frequency of G6PD deficiency was 1.3% (6 of 472) by the fluorescent spot test and 9.35% (44 of 472) by enzyme assay. The 6 cases diagnosed as deficient by the fluorescent spot test showed severe enzyme deficiency (< 2.92 U/gHb). The remaining 38 female neonates had partial enzyme deficiency and all were misdiagnosed as normal by the fluorescent spot test. In the female heterozygote group, G6PD deficiency was diagnosed in 53% (35 of 67) by enzyme assay and in 7.5% (4 of 67) of cases by the fluorescent spot test. The 4 cases detected by fluorescent spot test had severe enzyme deficiency (<1.6 U/gHb). The remaining 31 (46.3%) cases, diagnosed as normal by fluorescent spot test, showed partial G6PD deficiency. In conclusion, we found that the semiquantitative fluorescent spot test could only diagnose cases of total G6PD deficiency and misclassified the partially-deficient cases as normal. In this study, the overall prevalence of G6PD deficiency was 3.28% by the semiquantitative fluorescent spot test and 7.17% by enzyme assay. This means that 3.9% of G6PD-deficient neonates were missed by the routine fluorescent spot test and they were found to be exclusively females. This study demonstrates a need to use a method that can correctly classify female heterozygotes with partial G6PD deficiency. The clinical implication is that these individuals may be at risk of the hemolytic complication of G6PD deficiency.

Adult↗

PubMed2000

Sweat testing following newborn screening for cystic fibrosis.

Sweat testing remains the "gold standard" for the diagnosis of cystic fibrosis (CF) and is a critical component of newborn screening programs. We retrospectively reviewed sweat test results reported to a neonatal screening program for CF with respect to completeness of reported results and the values recorded for sweat chloride (Cl(-)) and sodium (Na(+)) concentrations and the Cl(-):Na(+) ratio in screened infants. Thirty-nine of 85 DeltaF508 homozygous (DeltaF508/DeltaF508) and 270 of 274 DeltaF508 heterozygous (DeltaF508/-) infants had sweat tests reported to the screening program. Of those, 30 and 213 sweat test reports, respectively, were complete, i.e., sweat weight, sweat chloride, and sodium were reported. Three centers accounted for 37 of 68 (54%) incomplete results, and 4 centers performed 4 or less post-screening sweat tests in the study period. There were 6 DeltaF508 heterozygous infants with sweat Cl(-) concentrations of 40-60 mmol/L and 4 had CF confirmed by additional genotyping (n = 2) or clinical and repeat sweat Cl results (n = 2). Forty-one percent of DeltaF508/-infants with sweat Cl(-) <40 mmol/L had Cl:Na >1. We conclude that the reporting of incomplete sweat tests is common following newborn screening for CF. Infants with sweat Cl(-) levels of 40-60 mmol/L require further investigation and review, but they almost certainly have CF. The Cl(-):Na(+) ratio does not appear useful in establishing a diagnosis of CF in infants.

Chlorides↗

PubMed1981

Massachusetts Metabolic Disorders Screening Program. II. Methylmalonic aciduria.

Screening neonates for methylmalonic aciduria is part of routine screening for metabolic disorders in Massachusetts. The process of urine collection by the parent and transmitted to the central screening laboratory was described in a previous publication (Pediatrics 49: 825, 1972). The primary objective of screening for methylmalonic aciduria is to detect methylmalonic acidemia, an inherited organic acid disorder. During the most recent 5 1/2-year period when the sensitive fast blue B stain was used in the analysis, four infants with methylmalonic acidemia were detected among 293,535 screened. Additional infants and children who came to attention because of clinical illness or family study also could be readily detected. Prior to this period, 325,634 neonates had been screened with the aniline-xylose method, which proved to be not sensitive enough for the identification of methylmalonic aciduria. Some affected infants have responded well to therapy and are clinically normal while two have shown poor biochemical response and are developmentally delayed. Four children in two families appear to have a benign variant of methylmalonic acidemia. Based on these studies the observed incidence of methylmalonic acidemia in Massachusetts is 1:48,000. Screening for methylmalonic aciduria may be an appropriate addition to newborn screening programs.

Child↗

PubMed2002

Newborn screening with tandem mass spectrometry: examining its cost-effectiveness in the Wisconsin Newborn Screening Panel.

OBJECTIVE: To examine the cost-effectiveness of tandem mass spectrometry (MS/MS) in a neonatal screening panel for 14 fatty acid oxidation and organic acidemia disorders in the Wisconsin Newborn Screening Program. STUDY DESIGN: An incremental cost-effectiveness analysis with a hypothetical cohort of 100,000 infants was performed. A threshold of $50,000/QALY (quality-adjusted life-year) was used to determine whether screening for medium-chain acyl-CoA dehydrogenase deficiency (MCAD) alone is cost-effective or whether additional disorders would need to be incorporated into the analysis to arrive at a conclusion regarding the overall cost-effectiveness of MS/MS. RESULTS: Under conservative assumptions, screening for MCAD alone yields an incremental cost-effectiveness ratio of $41,862/QALY. With the use of more realistic assumptions, screening becomes more cost-effective ($6008/QALY) and remains cost-effective so long as the incremental cost of screening remains under $13.05 per test. Adding the incremental costs of detecting the 13 other disorders on the screening panel still yields a result well within accepted norms for cost-effectiveness ($15,252/QALY). CONCLUSIONS: In Wisconsin, MS/MS screening for MCAD alone appears to be cost-effective. Future analyses should examine the cost-effectiveness of alternative follow-up and treatment regimens for MCAD and other panel disorders.

Acyl-CoA Dehydrogenase↗

PubMedDate not supplied

Incidence and pattern of congenital dislocation of the hip in Aseer region of Saudi Arabia.

OBJECTIVE: The aim of this paper is to determine the incidence, pattern, predisposing risk factors, treatment modalities and outcome of congenital dislocation of the hip (CDH) in the Aseer region of Saudi Arabia. METHODS: A retrospective study of 300 cases of CDH seen during a 4-year period between 1996 to 1999 was carried out at the Aseer Central Hospital, Abha. The relevant data examined included the details on pregnancy, birth, family history, methods of diagnosis and treatment. Data on live births for the same period was also obtained from the Directorate of Health, Aseer Region, Ministry of Health, Saudi Arabia. RESULTS: During the period of study, 300 children were found to have CDH with an incidence rate of 3.5/1000 live births. Only 32.4% of CDH was diagnosed in first 6 months of life. Mean age at diagnosis was 14.5 +/- 19.7 months while the mean age at treatment was 44.50 +/- 36.41 months. Some 235 cases (78.3%) were females (M:F ratio = 1:3.6) and 292 (97.7%) were Saudi nationals. There was a positive family history in 64 cases (21.3%). Both hip joints were involved in 151 cases (50.3%), the left hip joint 82 cases (27.3%) and the right hip joint in 67 cases (22.3%). Delivery was by spontaneous vaginal delivery in 268 cases 89.3%), caesarean section in 28 cases (9.3%) and breech delivery in 29 cases (10%). Limping and waddling gait were the most common clinical presentation seen in 166 cases (55.3%). In 22 children (7.3%), the parents were blood relatives. First born children constituted 56 out of 216 (25.9%). In the present series, 46% of the children were treated surgically, 42% were treated conservatively and 12% were treated by both. Avascular necrosis (AVN) of the femoral head following the treatment was seen in 6 children (2%). CONCLUSION: Incidence rate of CDH in Aseer Central hospital and by inference in Aseer region of Saudi Arabia was found to be 3.5/ 1000 live births. Since the neonatal screening of CDH in this region is poor, awareness programmes, routine neonatal hip joint examination at birth and up to one year of age and plain x-ray of pelvis after the age of 3 months in high-risk babies are strongly recommended.

Birth Order↗

PubMed2005

[Sickle cell disease: exotic disease or a Belgian public health problem?].

Sickle cell disease is a genetic disorder involving the haemoglobin designated as haemoglobin S, an autosomic recessive hereditary disease. It is the most frequent hereditary disease in sub-Saharan Africa, however epidemiological studies performed with a systematic neonatal screening in Brussels and Liège have proven that more than one neonate over 2.000 has a sickle cell disease. If this amount is significant, at the level of each physician the number of patient-contacts will be weak. Another aspect of the disease is the variability in its expression: some patients suffer from multiple and chronic organ alterations while other suffer also from acute events which might lead to death if not treated appropriately. The poor experience of each physician, the lack of the disease knowledge by the population, the symptoms complexity, and the socio-economical aspects of sickle cell disease explain that it can be considered as an "exotic" disease but also as a public health problem. A global and dedicated approach of the patient as a whole must be implemented. This is the reason for the existence of the "Réseau des Hémoglobinopathies": http://www.redcellnet.be/.

Africa↗

PubMedDate not supplied

Newborn screening guidelines for the critically ill infant.

The use of mass spectrometry in newborn screening has made possible the early diagnosis of various metabolic diseases. However, because aminoglycosides, blood transfusions, nothing by mouth status, and the presence of heparinized solutions all affect the results of newborn screens, neonates in critical care units who receive such treatments ought to be screened under specific practice guidelines. Many of the devastating sequelae of metabolic diseases are preventable if diagnosed early, making the development of such practice guidelines for use in the NICU especially important. Additionally, no standardized practice guidelines presently exist for determining who, whether birth hospital or primary care provider, is responsible for notifying the parent of a positive result and thus ensuring invaluable follow-up care. Such standardized guidelines for screening practice are needed to prevent devastating neurologic sequelae for children whose condition may otherwise escape unaddressed. Newborn screening guidelines developed at Johns Hopkins Hospital and Memorial Regional Hospital provide a helpful starting point.

Critical Illness↗

PubMed1997

Newborn screening for cystic fibrosis in Wisconsin: comparison of biochemical and molecular methods.

OBJECTIVES: To evaluate neonatal screening for cystic fibrosis (CF), including study of the screening procedures and characteristics of false-positive infants, over the past 10 years in Wisconsin. An important objective evolving from the original design has been to compare use of a single-tier immunoreactive trypsinogen (IRT) screening method with that of a two-tier method using IRT and analyses of samples for the most common cystic fibrosis transmembrane regulator (CFTR) (DeltaF508) mutation. We also examined the benefit of including up to 10 additional CFTR mutations in the screening protocol. METHODS: From 1985 to 1994, using either the IRT or IRT/DNA protocol, 220 862 and 104 308 neonates, respectively, were screened for CF. For the IRT protocol, neonates with an IRT >/=180 ng/mL were considered positive, and the standard sweat chloride test was administered to determine CF status. For the IRT/DNA protocol, samples from the original dried-blood specimen on the Guthrie card of neonates with an IRT >/=110 ng/mL were tested for the presence of the DeltaF508 CFTR allele, and if the DNA test revealed one or two DeltaF508 alleles, a sweat test was obtained. RESULTS: Both screening procedures had very high specificity. The sensitivity tended to be higher with the IRT/DNA protocol, but the differences were not statistically significant. The positive predictive value of the IRT/DNA screening protocol was 15.2% compared with 6.4% if the same samples had been screened by the IRT method. Assessment of the false-positive IRT/DNA population revealed that the two-tier method eliminates the disproportionate number of infants with low Apgar scores and also the high prevalence of African-Americans identified previously in our study of newborns with high IRT levels. We found that 55% of DNA-positive CF infants were homozygous for DeltaF508 and 40% had one DeltaF508 allele. Adding analyses for 10 more CFTR mutations has only a small effect on the sensitivity but is likely to add significantly to the cost of screening. CONCLUSIONS: Advantages of the IRT/DNA protocol over IRT analysis include improved positive predictive value, reduction of false-positive infants, and more rapid diagnosis with elimination of recall specimens.

Apgar Score↗

PubMed2001

Management of the hearing impaired infant.

With the advent of new testing methods for screening and confirmation of hearing loss in the newborn and setting up neonatal screening programs across the country, significant number of children with hearing loss are being diagnosed very early. Although still considered as one of the best behavioural tests in the competent hands, distraction testing is becoming superseded by more refined and controlled techniques such as visual reinforcement audiometry which is capable of determining a more complete audiometric profile of an infant from about the age of 6 months. A combination of these methods has allowed audiologists to bring down the average age of diagnosis of permanent congenital hearing impairment (PCHI) from over 2 years to well below 12 months. At the same time, increasingly complex and sophisticated hearing instruments are being developed to address traditional problems and also to deliver better amplified speech. Habilitating a neonate with a hearing loss is often challenging and requires a significant amount of resources, expertise and experience. Determining the infant's amplification needs could be difficult, as often the audiometric information is not complete. Further, selecting a suitable hearing instrument for an infant from a vast range is not easy and measuring the outcome after fitting hearing aids, especially in a few months old infant, can be extremely hard. With professionals becoming more confident in implanting younger children and realizing the benefits of early implantation, especially for speech & language development, there is a growing demand for referring infants as early as possible to the implant teams. Providing amplification is only the beginning of the process of habilitation. A multidisciplinary team approach is extremely important in this process and inclusion of the parents in the multidisciplinary team managing the infant often leads to a much improved outcome. There is growing evidence that early diagnosis and habilitation of PCHI leads to better speech and language development and more children being educated in the mainstream setting.

Acoustic Impedance Tests↗

PubMed1996

International database of tetrahydrobiopterin deficiencies.

Approximately 2% of newborns with hyperphenylalaninaemia are deficient in tetrahydrobiopterin. Selective screening must be performed in all instances where hyperphenylalaninaemia is detected by neonatal screening. In the last 20 years, 308 patients with tetrahydrobiopterin deficiencies have been recognized as a result of screening carried out, worldwide, in Departments of Paediatrics. Of these 308 patients, 181 suffered from 6-pyruvoyltetrahydropterin synthase deficiency, 92 from dihydropteridine reductase deficiency, 13 from pterin-4a-carbinolamine dehydratase deficiency, 12 from GTP cyclohydrolase I deficiency, and 10 are still unclassified. In the BIODEF database we have tabulated the most common clinical and laboratory data related to hyperphenylalaninaemia and tetrahydrobiopterin deficiencies. Additionally, there are data regarding treatment, outcome, and DNA analysis. Preliminary evaluation reveals that the degree of hyperphenylalaninaemia can vary from normal to 2500 mumol/L. Analyses of pterins in urine and measurement of dihydropteridine reductase activity from Guthrie cards are absolutely essential tests for accurate diagnosis. There is a regional (demographic) variation in the frequency of tetrahydrobiopterin deficiencies indicating the highest incidence in Saudi Arabia, probably a consequence of the high consanguinity rate.

Amino Acid Metabolism, Inborn Errors↗

PubMedDate not supplied

Delta-F508 cystic fibrosis mutation is not linked to intussusception: implications for rotavirus vaccine.

OBJECTIVE: To determine whether the cystic fibrosis (CF) delta-F508 gene mutation predisposes to intussusception, and so selects infants who should not receive rotavirus vaccine. METHODS: Stored neonatal screening blood spots, retrieved from 81 infants with intussusception and from 79 controls, were tested for the presence of the CF delta-F508 gene mutation. RESULTS: Prevalence of the mutation was similar in blood specimens from intussusception patients and from controls. CONCLUSION: Testing for the CF delta-F508 mutation at birth is unlikely to identify infants predisposed to intussusception, and therefore is not relevant to rotavirus vaccine programs.

Australia↗

PubMed1997

Are we screening too many babies for retinopathy of prematurity?

A retrospective, hospital-records-based study of neonates screened for retinopathy of prematurity (ROP) was undertaken to determine whether the inclusion criteria for screening could have been safely altered to reduce the numbers of babies screened whilst not missing any stage III disease. Babies from six neonatal intensive care units in Birmingham were screened by a single examiner. Between November 1989 and November 1995, 1611 babies were examined and 1429 of these fell within the inclusion criteria of current guidelines for ROP screening produced by the Royal College of Ophthalmologists and the British Association of Perinatal Medicine--any baby < or = 1500 g birthweight or < or = 31 weeks gestational age. Thirty-nine (39) babies developed stage III ROP of which 31 (2.2%) were from Birmingham. In addition 8 babies with stage III ROP were referred from elsewhere. All 39 babies with stage III ROP had a birthweight < or = 1250 g or a gestational age of < or = 29 weeks, but 2 fell outside one criterion, indicating the need for both to be used. Had these inclusion criteria been utilised during this period, then 30% fewer babies would have been examined (432 of 1429). The importance of using both birthweight and gestational age as inclusion criteria is discussed, and the dangers of altering the indications for national screening on the basis of one study population is emphasised.

Birth Weight↗

PubMed1999

A fluorogenic allele-specific amplification method for DNA-based screening for inherited metabolic disorders.

Rapidly growing mutation databases for various inherited metabolic diseases raise the possibility of neonatal screening by DNA-based diagnosis. It is therefore important to develop a simple DNA diagnostic method which is suitable for processing a large number of samples. We have devised an allele-specific amplification (ASA) method with a fluorogenic probe (TaqMan probe) to detect point mutations. A pairwise PCR amplification with two sets of allele-specific primers was performed in the presence of the TaqMan probe with real-time fluorescence monitoring on an ABI PRISM 7700 sequence detector. The difference in the amplification efficiency between two PCR reactions was determined by "threshold" cycles to differentiate mutant and normal alleles. The method, TaqMan-ASA, does not require post-PCR processing, thus obviating potential PCR contamination. Since the entire procedure can be carried out in a 96-well microtiter plate format, it is easy to automate. We successfully applied TaqMan-ASA to detect a common g727t mutation in Japanese patients with glycogen storage disease type Ia and a prevalent a985g mutation in Caucasian patients with medium-chain acyl-CoA dehydrogenase deficiency.

Alleles↗

PubMed1993

Screening for cystic fibrosis in dried blood spots of newborns.

We propose a newborn cystic fibrosis (CF) screening test based on the analysis of dried blood spot DNA by a strategy involving simple or multiplex denaturing gradient gel electrophoresis (DGGE) of PCR products of CFTR gene fragments, in conjunction with the immunoreactive-trypsin (IRT) assay. From May 1988 to May 1992 we have performed a neonatal screening programme of 42,000 newborns in Brittany. We identified 450 infants with an elevated IRT level. From this cohort, to evaluate the feasibility of measuring IRT in conjunction with mutation analysis in Guthrie cards, a pilot study was initially conducted on 200 individuals with normal IRT and 150 with raised IRT levels. Furthermore, a retrospective study was performed on 189 IRT positive cards, involving mutation scanning of exons 10 and 11 of the CFTR gene, which contains a number of frequent mutations including the deletion delta F508. We show that this approach has several implications for neonatal CF screening especially in decreasing the recall rate and detecting CF carriers.

Algorithms↗