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A neonatal hearing screening research program using brainstem electric response audiometry.

Results of brainstem electric response audiometry (BERA) for intensive care nursery graduates and babies from the general nursery are described. At-risk babies received both screening and more detailed BERA before hospital discharge. The latter test was repeated after four months. From 2,597 risk assessments, 421 were at risk and 379 have been tested. The specificity of 40 dB click screening is good, but its sensitivity is only moderate. Follow-up BERA detected 25 cases of hearing loss, 12 having moderate loss in at least one ear. Discrepancies between predischarge and follow-up tests occurred, especially for mild losses. There was substantial resolution of hearing loss, but also some emergent mild loss. These changes support BERA at about four months as the determinant of habilitation, as opposed to predischarge testing. Differences between click and frequency-specific BERA were found, suggesting that click evaluations alone are insufficient.

Audiometry↗

Neonatal thyroxine screening by use of a single-tube solid-phase radioimmunoassay.

Filter paper discs saturated with dried blood can be used in the Immunotube solid-phase thyroxine radioimmunoassay. This assay utilizes polypropylene tubes to which antibody to thyroxine is covalently bound. The filter paper standards and samples are placed in the tubes, followed by an assay buffer that contains I125-labeled thyroxine and compounds to displace thyroxine from its binding proteins. After incubation, bound and free thyroxine are separated by aspirating or decanting the disc and buffer from the tube. The test can be used with 0.32 cm (1/8 inch) or 0.64 cm(1/4 inch) discs, and gives quantitative results that correlate well with those for serum samples. The intra-assay coefficient of variation is less than 10%. The assay may readily be mechanized with existing disc-punching equipment, and results of its use in mass screening programs are described.

Blood Specimen Collection↗

[Amino acid imbalance in the blood of pregnant diabetic women and their newborn infants--limit values for screening. II. Neonatal amino acid imbalance].

Free amino acids were studied in the blood of 50 newborns each of women with intact metabolism and of diabetic mothers. The tests were conducted immediately after delivery and on the fifth day of age. Amino acid imbalance reflected, after birth, in changed concentrations of glutamic acid-threonine, alanine and glycin-serine was recordable from newborns of the diabetic mothers. However, nothing but significant changes in concentrations of glutamic acid-threonine and alanine was recordable on the fifth day of age. --An account is given of the formulae and nomograms (applicable instead of these formulae) for postpartum amino acid concentrations and for concentrations on the fifth day of age, being established by discriminant analysis. These can be used to identify alterations inflicted upon amino acid metabolism by diabetes mellitus.

Amino Acids↗

Congenital adrenal hyperplasia: should nationwide screening be implemented in Thailand?

A project to establish the Thailand National Neonatal Screening Program was started in 1996 with the objective of screening every newborn for congenital hypothyroidism and phenylketonuria. Over a million newborns were screened and over 430 abnormal cases were detected. A study was also conducted to determine the feasibility of including CAH screening in the program. The incidence of this disease has not yet been clearly determined. Since 1999, 58,563 newborns have been screened for CAH and 144 newborns with serum 17-OHP higher than 40 ng/mL were recalled for confirmatory tests. Of those, 68 were retested and 6 were found to have elevated 17-OHP levels. Two were confirmed with salt wasting CAH one month after birth, two others were diagnosed with another disease that caused electrolyte imbalance, one patient died, and the sixth required further clinical diagnosis. Five other babies were reported dead before the second specimens could be collected for confirmation. It appears that CAH may be one of the underlying causes of death among Thai newborns and the incidence may be higher than thus far shown due to incomplete confirmation of positive screens and deaths to some infants.

Adrenal Hyperplasia, Congenital↗

[Selection of neonates for hearing screening tests].

The need for hearing screening as a first step of secondary prevention and prerequisite of an early diagnostic as well as early rehabilitation of hearing impairment is stressed. The screening is recommended in the neonatal period prior to discharge from the hospital. The author discusses which population should be screened, gives brief review of neonatal screening methods and suggests the optimal one for our conditions. The organization of follow-up is discussed, as well.

Hearing Tests↗

How successful is screening for congenital disease of the hip?

The efficacy of neonatal screening for congenital disease of the hip is reviewed in relation to currently accepted criteria. There is poor validity of the tests used, imperfect understanding of the natural history of the condition, and absence of information on the outcome of treatment following screening compared to that following conventional diagnosis. The benefits of screening, although probably real, are therefore difficult to quantify. Strategies for increasing the efficiency of screening (maximizing the benefit:cost ratio) by mass screening after the neonatal period or by instituting routine retesting of all infants are discussed.

Hip Dislocation, Congenital↗

Newborn phenylketonuria (PKU) Guthrie (BIA) screening and early hospital discharge.

Recent policies of early discharge of postpartum mothers and their infants has raised concerns of possible decreased sensitivity in Guthrie bacterial inhibition assay (BIA) phenylketonuria (PKU) screening resulting in missed cases. In order to assess the potential impact of early discharge from hospital on neonatal screening for PKU and its variants, we performed 18 standard BIA screening tests on 11 newborn infants with the disease. Blood spot samples were collected from 1 to 24 h after birth and were analyzed at the Ontario Ministry of Health newborn screening laboratory according to the routine screening protocol. Except for one 4-hour postnatal sample from an infant with 'non-PKU mild hyperphenylalaninemia' (MHP) all blood samples showed phenylalanine levels > or = 240 mumol/l, irrespective of the age of the baby. During our 29 year experience with neonatal PKU screening (3.9 million infants tested), employing a cutoff blood phenylalanine of 240 mumol/l in blood spots obtained at > or = 24 h of age, only two biological false negative (one confirmed) tests were discovered in infants subsequently shown to have classical PKU: another three false negative tests were discovered in sibs of infants with MHP. The sensitivity of the screening test was 99.2% for infants with classical and mild PKU. Ascertainment of patients with MHP is unknown and is very likely incomplete. Over a 3-year period (1992-4) the specificity of the test was 99.9% for those screened after 24 h. The positive predictive value was 12.8%. Although early discharge may have an impact on other screened diseases, we conclude, from our studies, that early discharge may not affect the detection of infants with classical and mild (atypical) PKU, but would probably increase the number of infants with MHP missed using the BIA and a cutoff level of 240 mumol/l. Because of our experience and that of others, we recommend that neonates be at least 12 h of age before initial BIA PKU screening be carried out. To confirm this recommendation further prospective studies should be initiated.

False Negative Reactions↗