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PubMed2003

Neonatal hip screening.

CONTEXT: A "missed" case of congenital hip dislocation (CDH) can be a disaster for the patient and the outcome may be poor. Considerable resources are expended on screening programmes to identify appropriate cases early but a recent change in terminology to developmental dysplasia of the hip (DDH) and a realisation that neonatal hip maturation is poorly understood has made it difficult to know who should be screened and why. STARTING POINT: Neonatal hip screening is well established although some experts feel that the effectiveness of clinical let alone ultrasound screening programmes is unproven. Several European countries undertake population screening, while selective screening occurs in 93% of UK units. K Holen and colleagues recently reported (J Bone Joint Surg 2002; 84-B: 886-90) a prospective randomised trial of just over 15 500 newborn babies in which they compare universal and selective screening programmes. With a follow-up of 6-11 years, one late-detected hip dysplasia was seen in the universal group compared with six in the selective group (not statistically significant). These investigators found, on the background of an excellent clinical programme, no additional benefit from universal screening and thus advocate selective screening. WHERE NEXT: The aims of a screening programme must be defined, then evaluated. A consideration of costs can never take into account family pain and distress. The results of the universal screening programme in Coventry, UK, are impressive and significantly better than results from other UK centres. If the Coventry results are the gold standard, then it is necessary to work out how this can be achieved elsewhere rather than worry about whether it is unachievable.

Hip Dislocation, Congenital↗
PubMed2001

Evaluation of neonatal sepsis screening in a tropical area. Part II: Evaluation of intrapartum chemoprophylaxis protocol.

The authors report on an analysis of a chemoprophylaxis protocol at the University Hospital of Guadeloupe in the Caribbean. This study comprised 6,060 consecutive deliveries and was initiated to assess the application of an intrapartum chemoprophylaxis protocol, evaluate its results, and try to identify possible necessary modifications to the existing protocol. Although more than 90% of women had at least one bacterial screening (vaginal or urinary) during the last trimester of pregnancy, approximately 75% of mothers who were heavily colonized group B streptococcus (GBS) at delivery were not detected by this systematic screening. As is also reported in other tropical areas where a great proportion of neonatal sepsis occurs in term babies, low birthweight was not a specific risk factor in this study when controlling for other major risk factors such as fever and premature rupture of membranes. Intrapartum chemoprophylaxis was associated with an approximate threefold decrease in the risk of GBS neonatal bacteraemia among at risk deliveries. The results suggest that, in our tropical context, prolonged rupture of membranes of at least 12 hours' duration should be considered as a cause for intrapartum chemoprophylaxis as it accounted for the majority of cases of neonatal bacteraemia that escaped the existing protocol.

Anti-Bacterial Agents↗
PubMed1995

Neonatal thyroid screening of a multi-racial population.

A retrospective study on the thyroid status of 832 infants, born in Panaga Hospital in Brunei, was conducted. Despite a high degree of ethnic variability, screening for congenital hypothyroidism (CHT) included a fixed T4 and a TSH reference interval, based on a population of Malay infants. We tested their reliability for this heterologous group of infants. New T4 and TSH intervals were determined for each ethnic group and compared, revealing false positive and false negative judgements made during the period of study. Caucasian infants showed significantly higher T4 and TSH serum levels than all other ethnic groups. Regarding T4, most false positive judgements were found among the Malay infants. False negative judgements were detected among the Caucasian female infants. A new reference scheme was recommended, consisting of reference values that are applicable in neonatal thyroid screening of all infants in Panaga Hospital, regardless of their ethnic origin.

Asian People↗
PubMed1995

Screening for neonatal and infant deafness in Europe in 1992.

Many methods of screening for hearing impairment are available. The aim of our study was to determine which ones were really used in 1992. At the request of the British Audiology Society, we conducted an inquiry into the organization of screening for deafness in neonates and infants in Europe. In practice all 6-9 month-old infants are tested with behavioural tests in every country. For the neonates, generally only those at risk for hearing-impairment (about 5%) were tested. The most widely used tests were behavioural ones. Only specialized centers used transient evoked otoacoustic emissions (TEOAEs). This last test assesses the active mechanical properties of the cochlea and allows detection of even mild or unilateral sensorineural deafness.

Audiometry↗
PubMed2000

Audiological screening of neonatal intensive care unit graduates at high risk of sensorineural hearing loss.

AIM: To audit the identification and screening of graduates from a neonatal intensive care unit with risk factors for sensorineural hearing loss. METHODS: Hospital medical records of newborn infants discharged from the neonatal intensive care unit, Christchurch Womens Hospital, between 1 July 1994 and 30 June 1995 (n=564), were examined to identify those at risk for sensorineural hearing loss according to the American Speech-Language Hearing Association risk criteria 1991. Auditory brainstem response test results were obtained from the Christchurch Hospital Audiology Department. Outcome measures were: presence of hearing loss risk factors, numbers tested with auditory brainstem response, age at test and presence and degree of hearing impairment. RESULTS: Of 5,215 live births in Christchurch, 564 infants were discharged through the neonatal intensive care unit. Of these, 86 had risk factors for sensorineural hearing loss. There were 72 (84%) infants tested at audiology, with fifteen (17%) having abnormal test results. There were fourteen with risk factors who did not get audiology screening. CONCLUSION: A high proportion (84%) of high risk newborn infants had auditory brainstem response testing. Further improvement would require strict implementation of standard procedures. Auditory brainstem response screening is part of a wider population surveillance approach to identify hearing loss as early as possible.

Audiometry, Evoked Response↗
PubMed1999

Transient galactosemia detected by neonatal mass screening.

BACKGROUND: The Paigen method has detected not only persistently galactosemic patients, but also many children with transient galactosemia during the neonatal period. The diagnosis and clinical course of 389 patients with transient galactosemia detected by neonatal mass-screening from 1986 to 1996 in the Hiroshima prefecture were evaluated. METHODS: Enzyme assays for galactose metabolism, measurement of blood galactose levels, erythrocyte galactose-1-phosphate levels, serum total bile acid (TBA) levels and liver function tests were performed at the first visit by patients to our hospital. Liver function and the mental and physical development of patients were evaluated during the follow-up period (approximately 1 year). RESULTS: The diagnoses were classified as follows: 253 patients with unknown cause, 128 heterozygotes and two homozygotes for galactose enzyme deficiency (galactose-1-phosphate uridyltransferase, galactokinase, UDP-galactose 4-epimerase) and six heterozygotes for Duarte variant. Twelve patients showed high serum levels of TBA (> 80 mumol/L), which suggests the presence of portal-systemic shunts during the neonatal period causing galactosemia. Most patients showed normal mental and physical development during infancy. However, of 25 patients with mild to moderate abnormal liver function tests of unknown etiology after the neonatal period, five showed poor weight gain coincident with liver dysfunction. In almost all patients, levels of transferase decreased to the normal range by 1 year of age. CONCLUSION: We found that the prognosis of transient galactosemia was almost always favorable. However, patients should be followed for at least 1 year, because late liver dysfunction, which might cause poor weight gain, occurred in 6% of our patients.

Bile Acids and Salts↗
PubMed2001

Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study.

OBJECTIVE: To estimate the prevalence of confirmed permanent childhood hearing impairment and its profile across age and degree of impairment in the United Kingdom. DESIGN: Retrospective total ascertainment through sources in the health and education sectors by postal questionnaire. SETTING: Hospital based otology and audiology departments, community health clinics, education services for hearing impaired children. PARTICIPANTS: Children born from 1980 to 1995, resident in United Kingdom in 1998, with severe permanent childhood hearing impairment (hearing level in the better ear >40 dB averaged over 0.5, 1, 2, and 4 kHz). MAIN OUTCOME MEASURES: Numbers of cases with date of birth and severity of impairment converted to prevalences for each annual birth cohort (cases/1000 live births) and adjusted for under ascertainment. RESULTS: 26 000 notifications ascertained 17 160 individual children. Prevalence rose from 0.91 (95% confidence interval 0.85 to 0.98) for 3 year olds to 1.65 (1.62 to 1.68) for children aged 9-16 years. Adjustment for under ascertainment increased estimates to 1.07 (1.03 to 1.12) and 2.05 (2.02 to 2.08). Comparison with previous studies showed that prevalence increases with age, rather than declining with year of birth. CONCLUSIONS: Prevalence of confirmed permanent childhood hearing impairment increases until the age of 9 years to a level higher than previously estimated. Relative to current yields of universal neonatal hearing screening in the United Kingdom, which are close to 1/1000 live births, 50-90% more children are diagnosed with permanent childhood hearing impairment by the age of 9 years. Paediatric audiology services must have the capacity to achieve early identification and confirmation of these additional cases.

Adolescent↗
PubMed1995

Neurophysiologic studies and cognitive function in congenital hypothyroid children.

Minor neurologic and intellectual impairments have been described in some congenital hypothyroid (CH) children in spite of early detection by neonatal screening. The aim of our study was to assess cognitive functions as well as neurophysiologic parameters in hypothyroid children and to compare children detected by neonatal screening (group A) versus hypothyroid patients clinically diagnosed before the beginning of the screening program (group B). Group A consisted of 15 children (13 girls, mean age at the beginning of treatment 33 d). Group B consisted of 11 patients (7 girls, mean age at the start of treatment 10.1 mo). Twenty age-matched healthy children were studied as a control group for neurophysiologic tests. Neurophysiologic tests (Auditory P 300, long latency somatosensory evoked potentials (LL-SEP) were performed along with IQ evaluation. Abnormalities of neurophysiologic tests were detected in 82% of clinically diagnosed hypothyroid children. Surprisingly, 47% of the children detected by neonatal screening, having normal mental development index, showed at least one abnormal neurophysiologic test. LL-SEP latencies were found significantly increased in both groups of CH patients compared with controls. Our data are suggestive for a prenatal or perinatal CNS damage in some children with congenital hypothyroidism, despite early treatment.

Case-Control Studies↗
PubMed1996

Neonatal hearing screening with otoacoustic emissions: an evaluation.

For several years now, it is possible to test the cochlear function immediately after birth in an easy way by means of click evoked otoacoustic emissions. Thanks to this early detection, hearing aid fitting and appropriate hearing rehabilitation can now be started at a very young age, which significantly enhances the possibility of integration of the congenitally hard of hearing in society. An international consensus is growing to endorse a universal neonatal hearing screening in western societies. Setting up screening programs necessitates good preparation, continuous quality control and regular analysis of procedures and results. The present paper evaluates the procedure as organised from January 1993 till December 1994 in the University ENT-Department of the Sint-Augustinus Hospital. Of the 907 included neonates who were considered not to be at risk for hearing loss, 81% passed the test immediately, and 93% passed after maximum 3 tests. Some changes in the initial procedure increased the prevalence of emissions from 69% to 84%. The practical problems of the screening program and especially the importance of a stringent follow-up procedure in case of failure, are discussed.

Algorithms↗
PubMed1987

Impaired sensitivity of a single early leukocyte count in screening for neonatal sepsis.

The common clinical practice of using a single, early white blood cell (WBC) count to screen for early onset neonatal sepsis was investigated in a population of 61 newborn infants with culture proven sepsis in the first 3 days of life. Thirteen patients (21%) had a falsely normal WBC screening test. The patients with true positive and falsely normal WBC counts did not differ by risk factors for sepsis, birth weight, age, outcome or severity of disease. However, there was a significant delay between the screening test and the positive blood culture in the patients with false normal WBC counts and not in the patients with positive abnormal WBC counts (14.9 +/- 5.9 hours vs. 2.8 +/- 1.4 hr, mean +/- SE, P less than 0.001). A WBC count obtained soon after birth as currently utilized may not adequately screen for early onset neonatal sepsis.

False Negative Reactions↗
PubMed1987

Screening for cystic fibrosis. A comparative study.

A neonatal screening program for CF by determination of albumin in meconium was performed in the north eastern part of the Netherlands from 1973 to 1979. In this period 94,043 newborns were screened and 116,953 were not. A follow-up study of CF patients in the above cohorts was started in 1980. The purposes of this study were to evaluate the effects of early diagnosis and treatment in CF patients by comparing the outcome in the two groups of patients. Although the results indicate that very early diagnosis and treatment have a beneficial effect on outcome, more studies are needed before a definite answer can be given as to whether or not mass neonatal screening should be started.

Albumins↗