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PubMed1999

The need for universal neonatal hearing screening--some aspects of epidemiology and identification.

The devastating consequences of a congenital/early-acquired hearing disability on the speech language and social development of a child and the estimated prevalence rates of at least 1-1.5/1000 live births of congenital permanent hearing impairment are important health problems. Universal neonatal hearing screening programs have provided the opportunity to detect neonates with permanent congenital hearing loss, and thus initiate auditory rehabilitation before the age of 3 mo. Universal neonatal hearing screening represents secondary prevention of hearing impairment/deafness, and the world-wide documented delayed identification of children with congenital/early-acquired hearing impairment will no doubt be improved with the implementation of universal neonatal hearing screening programs.

Age of Onset↗

PubMed2005

Implementation of informed consent for a cystic fibrosis newborn screening program in France: low refusal rates for optional testing.

OBJECTIVES: The French Association for Neonatal Screening implemented cystic fibrosis neonatal screening (CF NBS) region by region in France, from the beginning of the year 2002 to early 2003. The program uses an immunoreactive trypsinogen/DNA testing algorithm on dried blood samples obtained at 3 days of age. Incorporation of DNA testing necessitated compliance with official regulations and French "bioethics" laws: the need for a written consent from the patient/guardian and specific circulation of the prescription, sample, and results. To fulfill these obligations, the Ethics and Genetics committee of the French Association for Neonatal Screening recommended that informed consent should be obtained for all neonates at birth by having the parents sign directly on the sampling paper. This study was designed to evaluate the effect of the educational efforts used to obtain informed consent on acceptance of CF NBS. STUDY DESIGN: Data from the screening center in Lille, France, were analyzed to determine the rate of refusal of CF NBS in the 18 months after initiation of the informed consent process. RESULTS: The number of refusals for CF NBS declined from 0.8% at the start of the program to 0.2% at the end of the first year of the new process for obtaining written consent. CONCLUSIONS: Efforts to inform parents and professionals resulted in a significant decrease in the number of refusals for CF NBS.

Algorithms↗

PubMed1999

Screening for hypercholesterolaemia in 10,000 neonates in a multi-ethnic population.

UNLABELLED: An immunoassay was developed for the detection of hypercholesterolaemia in dried blood spots collected from 6-day-old neonates. Blood spot samples (9,673) were subjected to immunoturbidimetric assay to determine the levels of apolipoprotein B (apoB), an index of plasma low density lipoprotein, and of apolipoprotein A-1 (apoA-1), an index of plasma high density lipoprotein. Infants with raised apoB or a reduced apoA-1/apoB ratio were recalled, retested and, if appropriate, referred to the Vascular Risk Clinic at King's College Hospital for medical management. A total of 189 were recalled for further testing; of whom 82 (45%) attended the recall clinic. A group of 16 families (24 individuals) had abnormal lipid profiles; of these, 7 families (14 individuals) had lipid profiles consistent with inherited hypercholesterolaemia. CONCLUSION: Neonatal screening for hypercholesterolaemia using blood spot apolipoprotein measurements is feasible but ethnic variations in disease prevalence must be considered in the design of a screening programme.

Adult↗

PubMed1979

A rapid double antibody non-equilibrium serum thyrotropin radioimmunnoassay suitable for primary neonatal hypothyroidism screening.

An improved double antibody radioimmunoassay for measuring human thyrotropin (h-TSH) in serum, suitable for neonatal primary hypothyroidism screening is described. The assay employs a non-equilibrium double antibody technique performed at an initial 37 degrees C followed by incubation at room temperature. Studies on the effects of various reaction parameters including time, temperature, antigen and antibody concentrations and the effect of various carrier proteins on the performance of standard curves were also performed. Using a 100-microliter serum sample for analysis, the assay sensitivity is routinely between 3 and 6 microU/mol of h-TSH (MRC 68/38) with interassay and intra-assay coefficient of variation values ranging from 6 to 14% over a wide range of control values. The incubation and phase separation is completed after 26 h with data available following automated counting and computation. Such a rapid assay facilitates a neonatal screening program for the early detection and treatment of primary neonatal hypothyroidism using either cord blood serum or early follow-up serum sampling in infants suspected on initial screening tests of an abnormality.

Cold Temperature↗

PubMed1994

Comparison of liquid and dried blood for neonatal hemoglobinopathy screening: laboratory and programmatic issues.

OBJECTIVES: To compare laboratory and programmatic issues in neonatal hemoglobin screening in two systems using either liquid cord blood or heel puncture blood dried on filter paper (DB) to determine the accuracy of hemoglobin phenotype; the collection rate of cord blood versus DB; and the types of and reasons for errors. METHODS: Cord blood samples for 6904 newborns were analyzed by electrophoresis in a large hospital laboratory. DB samples on the same cohort were analyzed by isoelectric focusing in a state public health laboratory. RESULTS: Interlaboratory concordance was 99.4% for 6904 matched specimen pairs, which included 27 disease and 596 carrier phenotypes. In 42 pairs, discordances for potential disease phenotypes occurred with cord blood samples. Errors involving carrier phenotypes occurred in 15 cord blood samples and 14 DB samples. Inconclusive results requiring repeat testing occurred more often in the cord blood testing system (92) than in the DB system (23). Clerical transcriptions and limitations of the techniques accounted for most laboratory errors. Noncompliance in sample collection occurred more frequently with cord blood (181) than DB (86). CONCLUSIONS: Both systems are subject to errors, but are equally reliable for neonatal hemoglobinopathy screening.

Blood Protein Electrophoresis↗

PubMed1996

Neonatal hearing screening.

UNLABELLED: Severe congenital hearing impairment is an important handicap affecting 0.1% of live-born infants and 1%-2% of graduates of Neonatal Intensive Care Units. The prognosis for intellectual, emotional, language and speech development in the hearing-impaired child is improved when the diagnosis is made early and intervention is begun before the age of 6 months. The usual age at diagnosis of hearing impairment is at least 18-30 months (or even later in cases of less severe hearing impairment) where there are no screening programmes. When screening is carried out using distraction methods at the age of approximately 9 months some hearing-impaired infants are missed and those discovered are at least 15-18 months before intervention begins. Neonatal screening could give hearing-impaired children the best chances for optimal care and development. Universal neonatal hearing screening is necessary, because, when neonatal hearing screening is restricted to high risk groups 30%-50% of infants with hearing loss are not discovered. The methods available for neonatal hearing screening are discussed in this paper. CONCLUSION: In our view automated measurement of auditory brainstem responses is the most valuable method for universal neonatal hearing screening.

Audiometry, Evoked Response↗

PubMed1994

Variation in coverage by ethnic group of neonatal (Guthrie) screening programme in south London.

OBJECTIVES: To determine whether coverage of the neonatal (Guthrie) screening programme in Britain is different for groups at highest risk of sickle cell disease and to identify possible reasons for incomplete coverage. DESIGN: Descriptive study of coverage of screening programme and its variation by mobility, district of residence, and ethnic group. SUBJECTS: 1727 infants born between 1 October and 31 December 1991. SETTING: Former West Lambeth and Camberwell District Health Authorities, London. MAIN OUTCOME MEASURE: Proportion of infants with an identifiable screening test result. RESULTS: Screening covered 1663/1727 (96.3%) infants overall (745/786 (94.8%) in West Lambeth; 918/941 (97.6%) in Camberwell). The relative odds ratio of an African infant not having been tested compared with a white infant was 3.05 (95% confidence interval 1.30 to 7.14) (2.08 (0.86 to 5.01) after adjustment for mobility and district of residence). For infants whose families moved into the districts after the birth compared with those born and resident in the districts the relative odds ratio of having been tested was 10.16 (4.85 to 21.29). The odds ratio of locally delivered infants in West Lambeth not having been tested compared with those in Camberwell was 2.12 (1.08 to 4.16) after adjustment for ethnic group. CONCLUSION: Coverage of the screening programme is incomplete and poorer in infants of African ethnic group than in white infants. Poorer coverage is also associated with mobility of the family around the time of birth. The findings have implications for using the neonatal programme for testing for sickle cell disease and other disorders. Arrangements for monitoring the existing screening programme are inadequate and an improved system should be established, similar to the scheme that monitors the immunisation programme.

Africa↗

PubMed2002

Screening of neonatal calves for persistent infection with bovine viral diarrhea virus by immunohistochemistry on skin biopsy samples.

Detection and elimination of cattle that are persistently infected with bovine viral diarrhea virus (BVDV) is important for controlling the transmission of this virus. Colostrum-derived antibodies make the detection of persistently BVDV-infected neonatal calves cumbersome and expensive. The objective of this study was to evaluate the use of immunohistochemical staining of skin biopsy samples from neonatal calves as a method for the early detection of persistent BVDV infection. Three hundred thirty-two 1- to 4-week-old dairy calves were screened for BVDV as part of a routine control program. Formalin-fixed skin biopsy samples were stained for BVDV antigen by immunohistochemistry (IHC), and the results were compared to those of virus isolation (VI) from white blood cell preparations. Six calves were positive by both IHC and VI and remained positive for BVDV upon subsequent follow-up testing; thus, they were classified as persistently infected with BVDV. One calf was positive by VI but negative by IHC. On subsequent testing, the calf was negative by VI, suggesting that the initial VI result was due to an acute BVDV infection. One calf was positive by IHC but negative by VI. This calf remained negative by VI on follow-up testing. Immunohistochemical staining of skin biopsy samples is a reliable method for screening neonatal calves for persistent BVDV infection and would be a useful management tool as an aid for controlling and preventing BVDV infection.

Animals↗

PubMed1990

The status of state-wide policies for neonatal hearing screening.

During the process of establishing follow-up procedures for our neonatal hearing program, we became interested in the current status of screening programs nationwide. Fifty states and the District of Columbia were surveyed to determine the extent and content of legislatively mandated neonatal hearing screening programs. Fourteen states have legislative mandates for screening and, at this point, approximately 50 percent of the states have no state-wide policy regarding neonatal hearing screening. Among the various state-wide protocols two basic approaches emerged: (1) the high-risk register and (2) in-hospital screening. In addition, information was obtained on screening methods, the level of program implementation, and some of the pros and cons for mandating neonatal hearing screening.

Audiology↗

PubMed2001

[Neonatal deafness screening with the evoked otoacoustic emissions technique. Study of 320 newborns at the neonatal resuscitation service of the Amiens neonatal care unit].

Between January 1997 and June 1999, we screened for hearing loss using evoked otoacoustic emissions in 320 newborns in the neonate intensive care unit at the Amiens University Hospital. The purpose of this study was to search for correlations between deafness and one of the hearing loss risk factors identified by the Joint Committee on Infant Screening. Three risk factors were found to be significant: craniofacial abnormalities, low birth weight (less than 1500 g) and a familial history of hearing loss. Unfortunately a large proportion of the infants were lost to follow-up. Evoked otoacoustic emission provide an excellent screening technique for hearing loss in newborns. Such screening implies however the creation of networks to assure patient follow-up.

Deafness↗

PubMed2002

Screening for neonatal herpes: physicians' descriptions of discussions with parents.

Screening for possible herpes simplex virus infection in neonates may raise feelings of anxiety and distress among parents and physicians. To elicit physicians' experiences of communicating with families when screening for neonatal herpes, we conducted a series of semi-structured interviews with 15 physicians from one paediatric institution, and coded the resulting audiotapes for common themes. These included how physicians prepared families for screening and treatment, how physicians managed stigma, and perceived parental reactions. Techniques for fostering good communication included being direct and honest and ensuring the time and place for discussion were appropriate; strategies for managing stigma included placing the diagnosis in epidemiological context, and discussing the potential severity of the disease. Physicians described many parental emotional reactions, some of which were herpes-specific, and suggested strategies to manage potential discomfort when discussing neonatal herpes with families. Future research can determine which strategies are most effective, which are associated with negative psychological outcomes, and how medical students and residents can be better trained to screen for this diagnosis.

Adult↗

PubMed1985

[Reevaluation of recalled infants by neonatal mass screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Diagnostic value of pregnanetriolone in a single urine specimen using glass capillary gas chromatography].

To establish a detailed reevaluation system for infants who were recalled by a neonatal mass screening for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, pregnanetriol (PT) and pregnanetriolone (PTL) in a single urine specimen combined with plasma 17 alpha-hydroxyprogesterone (17-OHP) and 21-deoxycortisol (21-DOF) were determined by a simple method using glass capillary gas chromatography. A pilot study of neonatal mass screening for CAH with a determination of "disc 17-OHP" value in dried blood on filter paper was carried out in Western Shizuoka Prefecture. During the study period (32 months), 37472 neonates were determined by mass screening, and 362 neonates proved to be abnormal candidates who needed further evaluations. From out of these candidates, 262 neonates responded with recall and were studied. Amongst these 262 neonates, 241 neonates visited directly our outpatient clinic at Hamamatsu University Hospital. The reevaluation conducted at our clinic included a physical examination, detailed family history, measurement of serum electrolytes, disc 17-OHP, plasma 17-OHP and 21-DOF values, and PT and PTL in a single urine specimen. Consequently, 3 neonates appeared to be patients with CAH. Two of them were the salt-losing type and the other was the simple virilizing type. The rest of the candidates who received reevaluation were finally decided to be healthy neonates, indicating false positivity by mass screening. Compared to the candidates who showed false positivity in the mass screening, the CAH patients had an apparently high urinary PT and PTL titer of ten or one hundred fold. Additionally, despite corticosteroid treatment in one case, significantly elevated levels of PT and PTL were detected. To assay PTL was a more reliable parameter for the detection of CAH and for following up the candidates because PTL was not detectable in 63.3% of the false positive cases, suggesting that PTL was less likely to indicate false positive cases. PTL was detected at more than 0.01 microgram/ml urine in 19.4% of false positive cases, however, no case showed further elevation of PTL during the follow up period. In all false positive cases, PTL was not detectable until the age of six months. Despite problems to be resolved, determination of urinary PTL titer is valuable for the detection of CAH patients. In addition, urinary PTL could be a good parameter for the further follow up of false positive cases in neonatal mass screening.

17-alpha-Hydroxyprogesterone↗

PubMed2006

Cost-effectiveness of neonatal ECG screening for the long QT syndrome.

AIMS: A significant number of preventable cardiac deaths in infancy and childhood are due to long QT syndrome (LQTS) and to unrecognized neonatal congenital heart diseases (CHDs). Both carry a serious risk for avoidable mortality and morbidity but effective treatments exist to prevent lethal arrhythmias or to allow early surgical correction before death or irreversible cardiac damage. As an electrocardiogram (ECG) allows recognition of LQTS and of some of the CHDs that have escaped medical diagnosis, and as LQTS also contributes to sudden infant death syndrome, we have analysed the cost-effectiveness of a nationwide programme of neonatal ECG screening. Our primary analysis focused on LQTS alone; a secondary analysis focused on the possibility of identifying some CHDs also. METHODS AND RESULTS: A decision analysis approach was used, building a decision tree for the strategies 'screening'-'no screening'. Markov processes were used to simulate the natural or clinical histories of the patients. To assess the impact of potential errors in the estimates of the model parameters, a Monte Carlo sensitivity analysis was performed by varying all baseline values by +/-30%. Incremental cost-effectiveness analysis for the primary analysis shows that with the screening programme, the cost per year of life saved is very low: 11,740 euro. The cost for saving one entire life of 70 years would be 820,000 euro. Even by varying model parameters by +/-30%, the cost per year of life saved remains between 7400 euro and 20,400 euro. These figures define 'highly cost-effective' screening programmes. The secondary analysis provides even more cost-effective results. CONCLUSION: A programme of neonatal ECG screening performed in a large European country is cost-effective. An ECG performed in the first month of life will allow the early identification of still asymptomatic infants with LQTS and also of infants with some correctable CHDs not recognized by routine neonatal examinations. Appropriate therapy will prevent unnecessary deaths in infants, children, and young adults.

Cohort Studies↗

PubMedDate not supplied

[Results of neonatal hearing screening with transitory evoked otoacoustic emissions].

From 1. 10. 1992-31. 12. 1993 a hearing screening was performed in 994 preterm and term babies (765 healthy neonates and 229 neonates with risk factors for hearing loss) by means of transient evoked otoacoustic emissions (TEOAE). There was a bilateral absent of emissions in 4.3% of the healthy neonates and 11.8% of the risk babies. 8 from 32 healthy neonates and 10 from 22 risk babies also had a negative test result in the control investigation. 16 of these children showed in 7 cases a severe hearing impairment in expanded pedaudiological investigations. The registration of TEOAE is a recommendable method for a hearing screening in neonates.

Birth Weight↗

PubMed1975

Thyroxine (T4) immunoassay using a filter paper blood samples for screening of neonates for hypothyroidism.

A rapid, sensitive radioimmunoassay for thyroxine (T4) is described which requires a specimen of dried blood on filter paper. One milliliter of glycine-acetate buffer containing anti-T4 antibody, tracer T4, and sodium salicylate is added to a tube containing a 1/8-inch dot of the filter paper specimen. After incubation overnight, bound and free hormone are separated by addition of dextran-coated charcoal. Quantitation is obtained using a standard curve prepared from dots of dried blood samples with known T4 content. The dot remains in the solution throughout the procedure. Recovery of T4 is 95% and intra- and interassay coefficients of variation are both less than 10%. The mean T4 content of 983 samples from the 3-day-old infants was 189 +/- 48 pg T4/dot (mean SD). This corresponds to the T4 in 1.5 mul plasma, and thus the estimated plasma T4 in these infants is 12.6 +/- 3.2 mug T4/100 ml. Nine neonates had repeated samples in which the T4 content was lower than 2 SD below the mean. All of these infants had normal cord thyroid-stimulating hormone (TSH) concentrations and thus presumably do not have primary hypothyroidism. The method should be useful for screening neonates (and older infants), since it can be adapted for use with the punch-index machine for automated processing, no prior extraction of T4 from the dot is required before quantitation, and the small size of the sample allows repeated tests of suspicious results.

Congenital Hypothyroidism↗

PubMed2004

Evolution of late presenting developmental dysplasia of the hip and associated surgical procedures after 14 years of neonatal ultrasound screening.

Between 1985 and 1998, 12,331 patients were included in the general neonatal ultrasound hip screening programme for developmental dysplasia of the hip (DDH). Patients who needed treatment (604) were compared with a second group of 73 unscreened children treated conservatively and surgically for DDH. The incidence of Graf sonographic hip types IIc to IV varied throughout the observation period. Femoral and pelvic osteotomies were almost entirely restricted to the unscreened group of patients. The six to ten per year recorded in the period 1985 to 1990 declined subsequently to three or less per year. The yearly admissions to hospital fell noticeably after six years of screening. Late presentations of DDH were reduced to three or less per year from 1990 to 1994, none between 1995 and 1998 and one or two per year from 2000. We conclude that general neonatal sonographic hip screening can reduce significantly surgical procedures, hospitalisation and late presentation of DDH.

Age Factors↗

PubMed2001

Costs of different strategies for neonatal hearing screening: a modelling approach.

OBJECTIVE: To compare the cost effectiveness of various strategies for neonatal hearing screening by estimating the cost per hearing impaired child detected. DESIGN: Cost analyses with a simulation model, including a multivariate sensitivity analysis. Comparisons of the cost per child detected were made for: screening method (automated auditory brainstem response or otoacoustic emissions); number of stages in the screening process (two or three); target disorder (bilateral hearing loss or both unilateral and bilateral loss); location (at home or at a child health clinic). SETTING: The Netherlands TARGET POPULATION: All newborn infants not admitted to neonatal intensive care units. MAIN OUTCOME MEASURE: Costs per child detected with a hearing loss of 40 dB or more in the better ear. RESULTS: Costs of a three stage screening process in child health clinics are 39.0 pounds (95% confidence interval 20.0 to 57.0) per child detected with automated auditory brainstem response compared with 25.0 (14.4 to 35.6) pounds per child detected with otoacoustic emissions. A three stage screening process not only reduces the referral rates, but is also likely to cost less than a two stage process because of the lower cost of diagnostic facilities. The extra cost (over and above a screening programme detecting bilateral losses) of detecting one child with unilateral hearing loss is 1500-4000 pounds. With the currently available information, no preference can be expressed for a screening location. CONCLUSIONS: Three stage screening with otoacoustic emissions is recommended. Whether screening at home is more cost effective than screening at a child health clinic needs further study.

Audiometry, Evoked Response↗

PubMed1988

Feasibility of screening all neonates for hearing loss.

We investigated the feasibility and cost of screening all neonates for hearing loss using the auditory response cradle (ARC). At least three full time staff are needed to screen 95% of the 3000 infants delivered each year including those in intensive care. Estimated costs per case detected are between pounds 3000 and pounds 6000 but true costs may be higher.

Costs and Cost Analysis↗