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PubMed2000

An investigation of maternal stress after neonatal hearing screening.

An investigation was undertaken to determine whether mothers whose infants failed a newborn hearing screening (MWIF) had significantly more stress and were consequently at risk for dysfunctional attachment than those mothers whose infants passed a newborn hearing screening (MWIP). The Parenting Stress Index (PSI; Abidin, 1995), a screening and diagnostic assessment questionnaire designed to measure the relative magnitude of stress in a parent-child dyad, was used. Twenty MWIP and 20 MWIF participated. The PSI was administered through a telephone interview approximately 1 month after participants' discharge while their infants were between their fourth and fifth week of life. In the case of MWIF, the interview occurred before their infant's hearing retest. No significant differences in Total Stress, Life Stress, Child Domain, and Parent Domain subscale raw scores of the PSI were found between MWIP and MWIF (p > .05). An examination of the individual PSI profiles of all participants for "high" and "low" normative percentile scores (i.e., percentile scores > or = 90th percentile and percentile scores < or = 0 percentile for the former and latter, respectively) revealed that the incidence of high scale/subscale percentile scores was essentially equivalent between groups. MWIP, however, displayed lower scale/subscale percentile scores. The results of the study suggest that those mothers whose infants receive a refer outcome after a newborn hearing screening demonstrate equivalent stress levels as those mothers whose infants received a pass.

Adult↗

PubMedDate not supplied

[Diagnosis of cystic fibrosis].

The 4 diagnostic stages of Cystic Fibrosis (C.F.) will be dealt with: prenatal diagnosis, singling out of the heterozygotes, clinical diagnosis and finally, the instrumental confirmation with the sweat test. The techniques for the intra-uterine diagnosis and for singling out of the heterozygotes are still in the experimental stage and cannot yet be put to practical use. The BM test on meconium is, among the numerous neonatal screening, no doubt the most widely used because of its simplicity and low cost. However, our personal experience has confirmed the high incidence of false negative (60%) and of false positive responses (0.8 - 0.9%). This has brought about a reconsideration upon the usefulness of neonatal screenings and this goes for the most recent method based on the dosage of blood trypsin levels. Because of the many difficulties imposed by the neonatal screening, there is a trend towards alternative diagnostic route: the clinical diagnosis. One of the most important objective symptoms even if it may seem trivial, is the reduced ponderal growth: in our personal experience, 51% of patients when diagnosed presented with weight below 10th percentile. One of the most frequent clinical pictures in that of a severe obstructive pulmonary disease of the infant. The high incidence of CF (1 in 1,250 live births) and the high mortality rate in the first year of life (50% of patients die during their first year) indicate that CF weighs heavily on the infantile mortality due to lung disease considered globally. This holds true above all for the Emilia-Romagna region, where the infantile mortality due to lung disease has been drastically reduced. One of the most recently discovered clinical manifestations, more frequent in hot climates, is the metabolic alkalosis. There is then a long series of minor clinical signs which should make one suspect a CF: a few of these are prolapse of the rectum, nasal polyposis, the equivalent of meconium ileus, haemorrhagic symptoms due to hypoprothrombinemia etc. An instrumental confirmation, a sweat test carried out with the quantitative method according to Gibson and Cooke, must always follow each clinical suspect. Unfortunately, alternative methods (such as the Orion C1 electrode or the Medtherm conductivity method) which have very high margins of error are still too widely used, in Italy as well, and should be completely abandoned.

Bronchopneumonia↗

PubMed1999

Reduction of false negative results in screening of newborns for homocystinuria.

BACKGROUND: Mental retardation and other disabilities (including ectopia lentis, osteoporosis, and thromboembolism) in patients who have homocystinuria as a result of a deficiency of cystathionine beta-synthase can be prevented by the screening of newborns with measurement of blood methionine, followed by the early treatment of affected infants. Many infants with this disorder, however, are not identified by screening and have irreversible brain damage. METHODS: We reviewed the results of neonatal screening for homocystinuria over a period of 32 years in New England. Additional specimens were requested for repeated analysis when blood methionine measurements were at or above the established cutoff level. Homocystinuria due to cystathionine beta-synthase deficiency was confirmed by quantitative amino acid analyses. RESULTS: For the first 23.5 years of the review period, the blood methionine cutoff value was 2 mg per deciliter (134 micromol per liter). Among the 2.2 million infants screened during that period, 8 with homocystinuria were identified (1:275,000). In 1990, the cutoff value was reduced to 1 mg per deciliter (67 micromol per liter). Among the 1.1 million infants screened in the subsequent 8.5 years, 7 with the disorder were identified (1:157,000). During the latter period, the specimens were collected from six of the seven infants when they were two days of age or less; five of the six had blood methionine concentrations below 2 mg per deciliter. Use of the reduced cutoff level increased the false positive rate from 0.006 percent to 0.03 percent. CONCLUSIONS: A cutoff level for blood methionine of 1 mg per deciliter in neonatal screening tests for homocystinuria should identify affected infants who have only slightly elevated concentrations of methionine and reduce the frequency of false negative results.

False Negative Reactions↗

PubMed2006

[Normal thyroid-stimulating hormone levels in screening for congenital hypothyroidism in newborn twins].

INTRODUCTION: A large number of articles have been published since neonatal screening for congenital hypothyroidism (CH) started in the 1970s. Surprisingly, little information on false negative results in these screenings has been reported. PATIENTS AND METHODS: Thyroid-stimulating hormone (THS) levels were determined in 360,651 newborn infants in Malaga until March 2005. One hundred and fifty-six CH cases were detected, of which 86 % were permanent and 14 % were transient. In this study, we retrospectively analyzed a group of 13 CH dizygotic twins in which only one of the twins had CH. RESULTS: The first two patients were diagnosed late and data on whether they were included in neonatal screening were lacking. In seven of the 13 patients, TSH values were initially normal: five patients were diagnosed by a second test performed 14 days after birth and were treated before they were 1 month old, and two were diagnosed and treated late because a second test was not performed. In the remaining four patients, TSH values were initially elevated but were lower than confirmation test values. CONCLUSIONS: It is now widely accepted that thyroid function could be compensated between two dizygotic twins if only one of the twins has CH, leading to a false negative result. The results of the present study indicate the need to repeat the test for CH 14 days after birth in all dizygotic twins.

Congenital Hypothyroidism↗

PubMedDate not supplied

[Neonatal hypothyroidism screening. 9 years' experience at a peripheral hospital].

Since 1979 in our Hospital 2500 newborns have been screened for C.I. by T4 and, afterwards, by TSH test. One case of C.I. was detected with an apparently higher frequency than in Lombardia and Italy. Even in a peripheral hospital, the screening for C.I. is useful for patients and the society and it has to be extended all over the country.

Congenital Hypothyroidism↗

PubMed1977

Observer bias as a factor in neonatal hearing screening.

To evaluate observer bias as a possible factor influencing neonatal hearing testing, two trained observers were asked to evaluate the behavior of 200 neonates at a moment the observers thought a stimulus was being presented. Observers were receiving masking noise, and when the stimulus button was pressed a stimulus might or might not be delivered to the child. Results suggest that observer bias is not a factor when arousal is the only acceptable response and is clearly defined, and the observers are limited to a yes-no decision. Sequential analysis of infant response patterns is presented and a specific test scoring protocol is outlined.

Arousal↗

PubMed1989

[Mass screening of neonates for histidinemia].

The authors report on newborn mass-screening for histidinemia by Guthrie bacterium inhibition assay. 51,618 newborns were screened and 805 cases with more than 5 mg% histidine blood level were found. A second test, urocanic acid thin-layer chromatography was done from these samples. According to these tests no histidinemic patient was detected. It is worth mentioning that blood histidine level exceeded 20 mg% in 55 cases from 805 newborns. Considering our screening results, the low incidence and the relatively good prognosis of the disease, a mass-screening in Hungary is not necessary.

Histidine↗

PubMed1986

Descriptive epidemiology of missed cases of phenylketonuria and congenital hypothyroidism.

We conducted a structured telephone survey of state public health laboratory directors of neonatal screening programs to determine the extent of the problem of missed cases of phenylketonuria (PKU) and congenital hypothyroidism. A total of 76 missed cases were reported--43 PKU and 33 congenital hypothyroidism. We looked at the following characteristics of the missed cases: the stage at which the miss occurred, which included specimen collection, laboratory procedures, or follow-up; the size of the program; the type of screening program; the age of the infant at the time of screening; and any legal action that resulted from the miss. The 76 missed cases probably represent an underascertainment of the true number, yet we believe that our data provide an overview of some of the problems associated with mass neonatal screening. There was one missed case of PKU for every 70 cases detected, and one missed case of congenital hypothyroidism for every 120 cases detected; in other words, two congenital hypothyroidism cases were missed for every 1 million infants screened. Regarding the stage of screening in which the miss occurred, 14% occurred during specimen collection, 45% during the laboratory procedures stage, 16% during follow-up, 11% were the result of biologic variation, and in 14% the stage could not be identified. We conclude that neonatal screening programs have been highly successful but that there may be additional safeguards to be developed, tested, and implemented when practical.

Clinical Laboratory Techniques↗

PubMed2005

The frequency of the sickle allele in Jamaica has not declined over the last 22 years.

The 'malaria hypothesis' predicts that the frequency of the sickle allele, which is high in malaria-endemic African populations, should decline with each generation in populations of African descent living in areas where malaria is no longer endemic. In order to determine whether this has been the case in Jamaica, we compared haemoglobin electrophoresis results from two hospital-based screening programmes separated by more than 20 years (i.e. approximately one generation). The first comprised 100,000 neonates screened between 1973 and 1981, the second, 104,183 neonates screened between 1995 and 2003. The difference in frequency of the sickle allele was small (5.47% in the first cohort and 5.38% in the second screening cohort) and not significant (Z = 1.23, P = 0.22). The same was true of the sickle trait frequency (10.05% in the first cohort and 9.85% in the second, Z = 1.45, P = 0.15). These differences were smaller than predicted under simple deterministic models based on the malaria hypothesis, and suggest that these models may not capture important determinants of allele and trait frequency decline (or persistence) in contemporary populations. Refining the expectations for allele and trait frequency change for Jamaica and other similar populations is an area for future study.

Anemia, Sickle Cell↗

PubMed2002

[Neonatal auditory screening with automated ABR].

UNLABELLED: To detect infant hearing disorders at the earliest stage, we use an ABR screener with natus-ALGO2e (AABR). We evaluated AABR efficacy and it with conventional ABR. MATERIALS AND METHODS: We examined 1450 ears of 725 infants at the perinatal center of Toho University Hospital (Ohmori) using AABR. Average gestation was 38.77 +/- 2.61 weeks average weight at delivery 2891.4 +/- 567.2 grams, and average days after birth 10.5 +/- 21.28 days at examination. Conventional ABR was used on 60 ears of 30 infants at high-risk for hearing disorders in 75 cases. AABR detection was "normal" (PASS) or "uncertain" (REFER). RESULTS: 1. AABR screening tests were used in all cases sleeping without the use of narcotics. A test took only 5.12 +/- 6.08 minutes on average. Of the 725 cases, 716 (98.8%) resulted in a bilateral PASS, 6 (0.8%), in unilateral REFER, and 3 (0.4%) in bilateral REFER. 2. In low-risk hearing impairment of 1300 ears of 650 infants, bilateral PASS was seen for 646 infants (99.4%) and unilateral REFER for 4 (0.6%). Reexamination was done for 4 infants with unilateral REFER after a week, but PASS was indicated in all cases. 3. In the comparative study with conventional ABR in high-risk hearing disorder for 60 ears of 30 infants, examination showed abnormalities in 2 of 53 ears passed by AABR. These 2 infants had marked low weight at delivery and abnormal chromosomes and are being followed up carefully as outpatients. 4. Seven ears of 4 infants with unilateral REFER and bilateral REFER by AABR were abnormal in all cases in conventional ABR examination. These cases had severe risk factors such as marked low weight at delivery, asphyxia neonatorum, and long-term respiratory control problems. Two ears of 1 infant gave no response bilaterally in conventional ABR at the age of 1 year and 2 months. CONCLUSION: AABR screening is compact, speedy, and more risk-free than conventional ABR, but discrepancies in results suggest the need for careful reexamination.

Evoked Potentials, Auditory, Brain Stem↗

PubMed2006

Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.

Since a few years ESI-MS/MS has been employed for the simultaneous detection of a wide range of inborn errors of metabolism. The screening center North at the Hamburg University Medical Center processes 40-50,000 samples per year. To assess current developments in neonatal screening, the Northern German Working Group on Neonatal Screening consisting of health care providers, metabolic centers, and screening laboratories was founded. Based on current literature and experience four categories of diseases were established. The first three categories were recommended for screening under constant scientific evaluation, while glutaric aciduria II, beta-ketothiolase deficiency, short-chain acylCoA dehydrogenase deficiency, and homocystinuria were not included in the screening program. In contrast, general screening for phenylketonuria (PKU) remains undisputed and MS/MS screening reduced false positives by simultaneously detecting phenylalanine and tyrosine. Recently, (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin (BH(4))-sensitive PKU has been discovered. We were able to demonstrate that BH(4) treatment without dietary restrictions may be sufficient for certain BH(4)-responsive PKU patients. In general, MS/MS provides a potential to rapidly screen for a wide variety of rare metabolic disorders but a close cooperation between scientists and metabolic doctors is required to constantly evaluate results in terms of improving the outcome of patients.

Amino Acids↗

PubMed1993

Using transient evoked otoacoustic emissions for neonatal hearing screening.

The Rhode Island Hearing Assessment Project was developed to determine the feasibility of establishing a valid cost-effective method of screening newborn hearing through a universal early identification programme. In a sample of 1850 infants, sensorineural hearing loss was identified in 11 infants using transient evoked otoacoustic emissions (TEOAEs). A second sample of 1451 infants showed similar trends in hearing loss identification. TEOAE was shown to have significant potential as a newborn screening tool when used in a carefully designed hospital-based early identification programme.

Acoustic Stimulation↗

PubMed1994

An evaluation of the adequacy of health visitor education for neonatal hip screening.

Congenital dislocation of the hip (CDH) affects two children per 1000, with potentially serious consequences. Student health visitors in Northern Ireland learn screening techniques for CDH at a half-day workshop at a regional hospital. In order to evaluate the adequacy of this preparation, 71 qualified health visitors were surveyed to assess their knowledge relating to CDH, their views on the adequacy of the training, and their opinions about referral of positive cases. Knowledge in some areas was poor and preparation was considered too short. Direct referrals of positive cases to orthopaedic clinics, without a general practitioner acting as an intermediary, was a frequently cited desire. Recommendations include extending the training for those involved in CDH screening while ensuring that experienced health visitors, from whom novices learn, are themselves using correct procedures.

Attitude of Health Personnel↗

PubMed2002

Neonatal thyroid screening--the Shifa experience.

OBJECTIVE: To evaluate the results of T4, TSH analysis and pattern of presentation in babies born at our hospital. METHOD: We retrospectively reviewed the data collected from T4, TSH screening on all babies delivered at our Hospital, where the blood was drawn within the first 4 days of life. Period under evaluation was from October 1995 to October 1998. Shifa Reference values were used. RESULTS: Blood sample were collected from 997 babies within 4 days of birth. Nine hundred and forty nine (95.2%) were evaluated after 24 hours. and 48(4.8%) in less than 24 hours of age. A high TSH was reported on 166 (16.8%) babies and a low T4 was reported on 78 (7.9%) babies. Statistical analysis showed a similar sensitivity for T4 and TSH (100%) but a higher specificity for T4 (93.1%) as compared to TSH (86%). A high-TSH with a low T4 was reported in 5 (0.5%) babies out of which 1 case was confirmed as congenital hypothyroidism requiring permanent thyroxin replacement and one case manifested a picture consistent with transient hypothyroidism. A low TSH with a low T4 was seen in 2 cases, however, they were all premature babies on antibiotics. CONCLUSION: Congenital hypothyroidism may be more frequent in our population and for the purpose of screening babies T4 values would carry a higher positive predictive value than TSH. Combining T4 TSH assays would however reduce the call back rate quite significantly but may prove to be a bit more expensive.

Congenital Hypothyroidism↗

PubMed2002

An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.

In galactokinase (GALK) deficiency, galactose cannot be phosphorylated into galactose-1-phosphate, which leads to cataract formation. Neonatal screening for hypergalactosemia in Berlin has been performed by thin-layer chromatography since 1978, which detects classical galactosemia and GALK deficiency. Until 1991, GALK deficiency has not been identified in a total of approximately 260,000 samples. In contrast, from 1992 to 1999, nine patients were detected in a total of approximately 240,000 screened newborns. One Turkish patient was homozygous for two novel S142I/G148C GALK mutations in close proximity to the putative ATP-binding site of the enzyme. The other eight children were born to five families belonging to the Bosnian refugee population consisting of approximately 30,000 individuals who have arrived in Berlin since 1991. In two of these families, GALK deficiency was subsequently diagnosed in siblings who had cataract surgery at 4 and 5 y of age, respectively. In all these 10 Bosnian patients, a homozygous P28T mutation located near the active center of the enzyme was identified. We propose that neonatal screening of populations with a significant proportion of Bosnians and possibly other southeastern Europeans, e.g. Romani, should be particularly directed toward GALK deficiency, an inborn error of metabolism that is readily amenable to effective treatment.

Adenosine Triphosphate↗

PubMed2001

Universal neonatal hearing screening: past, present, and future.

After a brief review of the history of newborn hearing screening including the Downs behavioral testing procedure, the Crib-o-gram and similar devices, and the use of auropalpebral reflex and otoacoustic emissions, there is a discussion of key issues that need to be resolved before universal hearing screening is introduced. Included are questions regarding the target population(s) of screening programs, well baby versus NICU screening, dealing with false-positives and the effects on parent-child relationships, and finally, the availability of resources for screening and follow-up. The results of a recent study in the United Kingdom that assessed the current state of audiology services and found there is a difference between existing standards and what is actually being done in practice, are presented and considered in terms of current trends in the United States to move ahead with universal screening without a solid database of information regarding the preparedness of clinical centers to deal with the need for services that will result from the initiation of universal programs. Caution is urged.

Follow-Up Studies↗

PubMed2006

Low prevalence of hearing impairment among very low birthweight infants as detected by universal neonatal hearing screening.

OBJECTIVES: To (a) study the prevalence of hearing impairment in a cohort of very low birthweight (VLBW) infants and (b) evaluate the effectiveness of transient evoked otoacoustic emissions (TEOAE) as a first stage in-hospital hearing screening tool in this population. STUDY DESIGN: The study group was a cohort of 346 VLBW infants born in 1998-2000 at The Sheba Medical Center. The prevalence of hearing impairment in the study group was compared with that of all other newborn infants participating in a universal newborn hearing screening programme during the same period. To evaluate the effectiveness of TEOAE, a control group of 1205 healthy newborns who had no known risk factors for hearing impairment was selected. The results and follow up of hearing screening for these infants were examined retrospectively. RESULTS: Only one VLBW infant (0.3%) was diagnosed with bilateral sensory-neural hearing loss. In addition, nine infants (2.7%) were diagnosed with conductive hearing loss. Bronchopulmonary dysplasia and low Apgar score were the most significant factors for predicting the occurrence of conductive hearing loss. The percentage of VLBW infants who successfully passed the in-hospital TEOAE screening was 87.2, compared with 92.2% in the full term control group. No false negative cases were detected on follow up. CONCLUSIONS: The study shows a low incidence of sensory-neural hearing loss in a cohort of VLBW infants and a relatively high incidence of conductive hearing loss. TEOAE screening was found to be an effective first stage in-hospital hearing screening tool in this population.

Apgar Score↗

PubMed1999

[Neonatal hearing screening--consequences for public health policy].

In Germany 1-2 of every thousand newborns suffer from severe hearing impairment. The fatal consequences of this irreversible condition are avoidable only if therapy is started as early as possible--according to current US-American recommendations before the age of 6 months. In Germany children even with severe hearing loss are identified only when they are 21 months old (average figure). Universal hearing screening before the age of 3 months could be a useful measure to reduce the mean age of children at the time of diagnosis and so to give them a chance of an early and promising therapy. In the USA this has been recommended by the National Institute of Health since 1993.

Germany↗