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PubMed2001

Effects of thyroid hormone deficiency on electrocardiogram findings of congenitally hypothyroid neonates.

Hypothyroid status is believed to cause various metabolic changes in infants. However, it is interesting that even severely hypothyroid neonates, detected during mass neonatal screening, rarely show bradycardia, hypothermia, or inactivity. To study cardiac functions of screen-detected neonates with congenital hypothyroidism (CH), we recorded the electrocardiograms (ECG) of 53 screen-detected CH neonates before levothyroxine (LT4) replacement therapy, and 15 age-matched normal neonates for controls. The 53 CH neonates were divided into two groups according to initial serum thyroid hormone levels: a mildly hypothyroid group (n = 37), serum thyroid-stimulating hormone (TSH) less than 100 microIU/mL and free thyroxine (FT4) 0.6 ng/dl or more; and a severely hypothyroid group (n = 16), TSH 100 microIU/mL or more and FT4 less than 0.6 ng/dL. TSH, FT4, and other blood chemicals were measured on an autoanalyzer (Hitachi 7170). After blood sampling, the ECG was recorded during induced sleep by oral administration of triclofos sodium syrup. ECG parameters, including HR, PR, QRS, QT time and corrected QT time (QTc) were automatically obtained, using an auto-ECG analyzing system. The following results were obtained. No CH patients showed abnormal ECG findings. There was no significant difference of the mean heart rates (HRs) between the mildly hypothyroid (147.5 +/- 16.3 beats per minute) and the control group (148.3 +/- 12.1 beats per minute). The mean HR in the severely hypothyroid group (134.0 +/- 17.9 beats per minute, p = 0.007) was significantly low compared with the normal control group. However, all values were within normal ranges. QTc in the severely hypothyroid group (0.414 +/- 0.015, p = 0.033) was significantly shorter than in the control group (0.440 +/- 0.052). No statistical differences of PR, QRS, and QT time were noted among the three groups. All ECG parameters were within normal ranges. HR positively correlated with FT4 and log (FT4), and negatively with TSH and log (TSH). From these results we conclude that the deficiency of thyroid hormones does not affect ECG findings of congenitally hypothyroid neonates. This may be consistent with the unexpectedly mild signs and symptoms of screen-detected hypothyroid neonates.

Congenital Hypothyroidism↗

PubMed2002

A review of the case for neonatal thyrotropin screening in developing countries: the example of India.

BACKGROUND: Infantile hypothyroidism, either caused by iodine-deficiency disorder (IDD) or congenital hypothyroidism (CH), is the world's leading cause of preventable mental retardation. Such hypothyroidism has virtually been eliminated in the developed world by salt iodization and neonatal thyroid screening. However, most developing countries do not have neonatal thyroid screening programs. Using India as an example, we review the case for newborn screening in the developing world. METHODS: A literature review on infantile hypothyroidism in India was conducted and three Indian thyroid experts were queried about their views on neonatal screening in India. RESULTS: Iodine nutrition improved markedly in India during the 1990s; 49% of the households are now using adequately iodized salt. The control of IDD is still insufficient in India. Nationally representative data on neonatal screening in India are not available, but two regional studies have been published. One study (n = 12,407) measured cord blood thyrotropin and the other (n = 25,244) measured filter paper thyroxine. These studies reported difficult socioeconomic and organizational barriers to the implementation of neonatal screening in India. DISCUSSION: It is time for India to make neonatal thyroid screening and mandatory iodization of salt a priority and develop a comprehensive infantile hypothyroidism policy. Prioritization of infantile hypothyroidism prevention is justified by its high frequency, sensitivity of screening in detecting both IDD and CH, adverse consequences of missing diagnosis at birth, high effectiveness of prevention, severity of disability from hypothyroidism, cost effectiveness of prevention, and lack of a clinical method of diagnosis near birth.

Congenital Hypothyroidism↗

PubMed1995

The views of parents of hearing impaired children on the need for neonatal hearing screening.

Much research is now being undertaken into the implementation of universal neonatal hearing screens, but consumer opinion about such screening has not been widely available. The opinions of the parents of 356 children and young adults, with varying degrees of permanent hearing impairment were sought for the current study. They were questioned about their satisfaction with the age at which the hearing impairment was confirmed to be present in their child. Of 208 responses, only 58 were reasonably satisfied with the age at which their child's impairment had been confirmed. They were also asked whether they would have wanted a neonatal hearing screen had it been available. The overwhelming majority (166) would have welcomed such a test. This opinion was shared by the parents, even when their child had a mild or unilateral impairment. Parental comments about the advantages and disadvantages of neonatal screening are discussed.

Adolescent↗

PubMed2001

Cystic fibrosis and fragile X syndrome: the arguments for antenatal screening.

The ultimate public health aim of genetic screening is prevention. This can be achieved by reducing birth prevalence through primary or secondary methods such as pre-conceptional or antenatal screening. Tertiary prevention by neonatal screening is also an option where there is direct unbiased evidence for a substantial improvement in prognosis. In addition to this, the information provided during screening is also of value, enabling individuals to make choices that otherwise would not have been available. Having elucidated the natural histories and genetic defects underlying two common, serious genetic disorders, cystic fibrosis and fragile X syndrome, considerable efforts have been channelled into ascertaining the most efficacious method of prevention. To date there is only indirect evidence to suggest that neonatal screening improves prognosis in cystic fibrosis. Similarly, treatment for fragile X syndrome is limited and therefore early identification of the disorder by neonatal screening is unlikely to improve long term outlook. Thus the focus of this review is on primary and secondary preventive methods.

Animals↗

PubMed2003

[Utility of congenital hypothyroidism screening in neonates for monitoring iodine deficit disorders in the Canary Islands (Spain)].

BACKGROUND: Newborns in European cities where iodine intake is low have been demonstrated to present high frequencies of transitory hypothyroidism. Because the neonatal period is critical for cerebral development, this is a cause for concern. Published studies (WHO/UNICEF/ICCIDD) indicate that neonates with a thyroid-stimulating hormone (TSH) concentration of more than 5 mU/ml revealed by screening for congenital hypothyroidism present mild iodine deficiency. OBJECTIVE: To analyze the utility of TSH values as an indicator of the prevalence of iodine deficiency in the general population. MATERIAL AND METHODS: We prospectively evaluated 19 809 neonates, corresponding to all the neonates screened from May 2001 to April 2002 in the Canary Islands.TSH determination in whole blood dried on filter paper was performed using immunofluorescence (Delphia) in the Center for the Detection of Metabolic Disorders in the Canary Islands. The percentage of neonates in each island with TSH values of > 5 mU/l was calculated. Samples of cord blood were not used. RESULTS: A total of 19 809 infants were analyzed. Of these 1800 had values of TSH > 5 mU/L, representing 9.08 % of neonates. The mean age at blood extraction was 4.31 6 3.78 days (range: 0.5-40). The percentage of neonates with values of THS > 5 mU/L in each island was 13.1 % in Gran Canaria, 5.1 % in Lanzarote, 7.3 % in Fuerteventura, 6.0 % in Tenerife, 6.2 % in La Palma, 6.6 % in Gomera and 10.1 % in Hierro. In 77.5 % of neonates in Gran Canaria blood was extracted for screening within the first 72 hours of life and 15.2 % of these neonates had TSH concentrations of > 5 mU/L. In 22.5 % of neonates blood was extracted on the third day of life or later and 7.9 % of these neonates had TSH values of > 5 mU/L. CONCLUSIONS: In the Canary Islands, the percentage of neonates with iodine deficiency, according to elevated TSH levels detected screening for congenital hyperthyroidism, was small. The validity of TSH level as an indicator of the prevalence of iodine deficiency in the general population is influenced by the days of life at which the blood sample is taken.

Atlantic Islands↗

PubMed2006

Newborn screening for congenital hypothyroidism.

Most neonates born with congenital hypothyroidism (CH) have normal appearance and no detectable physical signs. Hypothyroidism in the newborn period is almost always overlooked and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Blood spot T4 or TSH or both can be used in neonatal screening for CH. The latter, which is more sensitive, is not cost effective, so the first two are used in different programs in the world. TSH screening was shown to be more specific in the diagnosis of CH; T4 screening is more sensitive in detecting newborns especially with rare hypothalamic-pituitary hypothyroidism, but less specific with a high frequency of false positives mainly in low birth weight and premature infants. The time at which the sample is taken may vary between centers, with the majority taking blood from a heel prick after 24 hours of age to minimize the false positive high TSH due to the physiological neonatal TSH surge that elevates TSH levels and causes dynamic T4 and T3 changes in the first 1 or 2 days after birth. Early discharge of mothers postpartum has increased the ratio of false positive TSH elevations. Although transient hypothyroidism may occur frequently, all suspected infants should be treated as having CH for the first 3 years of life, taking into account the risks of mental retardation. A reevaluation after 3 years is needed in such patients. The goal of initial therapy in CH is to minimize neonatal central nervous system exposure to hypothyroidism by normalizing thyroid function, as reflected by T4 and TSH levels, as rapidly as possible. Iodine deficiency is the most important cause of CH worldwide. Iodine is essential for thyroid hormone synthesis and is present in soil, water and air. Prevention of iodine deficiency can be by iodized salt, iodized oil, iodized bread or iodine tablets.

Congenital Hypothyroidism↗

PubMed2000

Simplified screening for organic acidemia using GC/MS and dried urine filter paper: a study on neonatal mass screening.

A simplified method for organic acidemia screening using GC/MS, the urease/direct method, is now available. To establish a practical screening system for organic acidemias, we studied the usefulness of dried urine filter paper (filter paper urine) and the application of a personal computer-based system of automated metabolic profiling and interpretation (automated system) that we earlier developed. In a comparison of filter paper urine with liquid urine, creatinine levels ranging from 4.6 to 122.5 mg/dl, showed an excellent correlation (r=0.9554), when the volumes of blotted urine and distilled water soaked were the same. Recovery of all 17 compounds except for citrate was similar between liquid and filter paper urine. CV values of 22 compounds tested ranged from 5.5 to 22.4% in the liquid urine, and from 7.7 to 29.8% in the filter paper urine. The CV values in stable isotope dilution analysis were much smaller in all nine compounds tested. As to the stability of compounds, the percentage changes to values at day 0 were within about +/-25% on day 28. We compiled GC/MS data, including methylene unit values, quantifying and confirming ions of 163 different organic acids and others, to use the automated system. We analyzed specimens from 55 patients with 17 different metabolic disorders. In 54 of the 55 specimens, the correct diagnosis was successfully indicated. Neonatal mass screening for organic acidemias warrants ongoing attention using this simplified method and filter paper urine.

Acidosis↗

PubMedDate not supplied

White noise as a pretest sensitizer for neonatal hearing screening.

To determine the effects of white noise as a pretest sensitizer in neonatal hearing screening, 450 neonates were tested under 18 test conditions which also permitted examination of infant state and criterion stimuli (warble tone versus narrow band noise) as variables. There were three pretest conditions: No pretest sensitizer; 90 dB pretest sensitizer, and 100 dB pretest sensitizer. Each pretest condition was followed by either a 90 or a 100 dB criterion stimulus. Analysis concerned an increase in the number and in the strength of the responses. Generally, there was no benefit associated with the use of white noise as a pretest sensitizer.

Acoustic Stimulation↗

PubMed1998

Population screening for neonatal liver disease: a feasibility study.

BACKGROUND: Extra-hepatic biliary atresia and several other causes of neonatal liver disease carry high mortality and morbidity rates, especially if not treated early in life. Despite professional recommendations, delayed referral of infants with prolonged jaundice continues to be a significant problem. One approach to reducing the age of referral and diagnosis is population screening to detect significant conjugated hyperbilirubinaemia as an index of liver dysfunction. METHODS: To investigate this possibility, and to provide reference data on bilirubin and its conjugated and unconjugated fractions in a normal newborn population, 1157 neonates were anonymously tested (median age 7 days, range 4-28 days) using surplus plasma from routinely collected neonatal screening specimens, using dry slide chemistry. RESULTS: Of 2310 specimens received, 50% were suitable for analysis. The remainder were either haemolysed or insufficient (10% and 40% of the total, respectively). Total bilirubin concentrations ranged from 9 to 428 micromol/l and conjugated bilirubin from 0 to 175 micromol/l, although the latter was rarely increased to more than 30 micromol/l (2.5th-97.5th percentile ranges 15-285 micromol/l and 0-18 micromol/l, respectively). The range of the percentage of conjugated bilirubin was 0-57% (2.5th-97.5th percentile; range 0-20%). CONCLUSION: An increased conjugated bilirubin, expressed as a concentration or as the percentage of the total bilirubin, could be used as a specific marker to screen for liver dysfunction in neonates. This approach has the potential to improve the age of referral and the prognosis of infants with neonatal liver disease.

Bilirubin↗

PubMed1972

Neonatal hearing screening.

Auditory testing of neonates has received considerable attention in the last few years. As a result, several machines have been devised for this type of evaluation. It has been proposed that this equipment can be utilized by volunteer personnel to assess the hearing of infants. This investigation indicates that even trained audiologists are unable to make a definitive estimate of the hearing level in many newborns.

Deafness↗

PubMed2001

State of the art neonatal hearing screening with auditory brainstem response.

The purpose of this paper is to briefly review some of the aspects of the auditory brainstem response (ABR) that are important in its use as a method of screening and assessing hearing in the neonate. The paper starts by considering the technical limitations of click ABR and explores the alternative electrophysiological methods. It then considers where ABR is required in the screening of neonates. The role of bone conduction ABR in estimating the conductive component of any hearing loss is discussed. Finally, the ability of the neonatal ABR to predict the long-term audiometric outcome of permanently hearing-impaired children is considered.

Evoked Potentials, Auditory, Brain Stem↗

PubMed1999

Newborn screening in Singapore.

Neonatal screening in Singapore for G6PD deficiency started in 1965. Screening for congenital hypothyroidism started in 1981 as a pilot research program and by 1990, it became nationwide. Screening for congenital hypothyroidism is by the measurement of TSH in the cord serum with recall of those exceeding the 99th percentile, by about 3-4 days of life. Treatment is usually started within a week of life. Over 400,000 newborns have been screened and the screening rate has been about 99.95%. The incidence rate is about 1 in 3,000. G6PD activity in the cord blood is measured using semi-quantitative rapid screening tests. Those identified are physically protected from environmental triggers by keeping them in hospital for a variable period of time. Parents are counseled. Data obtained from 22,830 newborns from the National University Hospital revealed incidence rates of 1.62% in all newborns, 3.15% in males and 0.11% in females. The Chinese and Malay males had a higher (3.94% and 2.95%) incidence respectively when compared to the Indian males with (0.66% incidence). The application of the preventive measures has resulted in no report of kernicterus in the last 20 years. Our efforts are now focused on minimizing the recall rate in the case of hypothyroidism screening, reducing the period of stay in hospital in those with G6PD deficiency and considering the introduction of a PKU screening program in Singapore.

Congenital Hypothyroidism↗

PubMed2000

Universal neonatal hearing screening--parental attitudes and concern.

This study addresses parental attitudes and concern in relation to universal neonatal hearing screening by otoacoustic emissions (OAE) testing. The parents of 87 children who had participated during the first year of the universal neonatal hearing screening programme at University Hospital, Linköping, Sweden were included in the study. These children were all tested during this period and later cared for at three well-baby clinics (part of their primary healthcare). A questionnaire was given to the parents during routine medical check-ups at the well-baby clinics when the infants were 5-6 months of age. Ninety-five per cent of parents stated that they had a positive attitude towards neonatal hearing screening, 1% were ambivalent and 4% were negative about it. The parents wanted early detection of hearing loss and the possibility of early intervention. It was also found that screening did not disturb the children. A few parents were anxious due to repeated testing of their children. The information provided in connection with the test was found to be sufficient by 77% of parents, whereas 11% of parents had negative comments about it (e.g. they wanted more information about the otoacoustic emissions technique). The general attitude among parents towards universal neonatal hearing screening was very positive in that they felt reassured by it. The risk of disturbing the parent-child relationship by early screening seems to be small, and could be further minimized by improved information and rapid and effective follow-up.

Attitude to Health↗

PubMed1997

Neonatal hearing screening with an automated auditory brainstem response screener in the infant's home.

Universal neonatal hearing screening is essential if all infants with congenital or perinatally acquired hearing impairment are to begin treatment before the age of 6 months to facilitate development of speech, language, communication and academic skills. Screening cannot always take place in hospital because of the increase in very short-stay deliveries. Therefore screening in the home may be necessary to achieve a high level of screening. We describe a feasibility study with an automated auditory brainstem response (AABR) screener in the infant's home as part of the service offered by the Well Baby Clinics in the Netherlands. Of the 277 infants who completed the screening 266 had the results "pass", 7 "refer" and 4 had inconclusive results. The mean time needed per screening was 18 min. This study shows that neonatal hearing screening by nurses using an AABR infant screener in the home is feasible.

Electronic Data Processing↗

PubMed2000

Identification of neonatal hearing impairment: evaluation of transient evoked otoacoustic emission, distortion product otoacoustic emission, and auditory brain stem response test performance.

OBJECTIVES: The purpose of this study was to compare the performance of transient evoked otoacoustic emissions (TEOAEs), distortion product otoacoustic emissions (DPOAEs), and auditory brain stem responses (ABRs) as tools for identification of neonatal hearing impairment. DESIGN: A total of 4911 infants including 4478 graduates of neonatal intensive care units, 353 well babies with one or more risk factors for hearing loss (Joint Committee on Infant Hearing, 1994) and 80 well babies without risk factor who did not pass one or more neonatal test were targeted as the potential subject pool on which test performance would be assessed. During the neonatal period, they were evaluated using TEOAEs in response to an 80 dB pSPL click, DPOAE responses to two stimulus conditions (L1 = L2 = 75 dB SPL and L1 = 65 dB SPL L2 = 50 dB SPL), and ABR elicited by a 30 dB nHL click. In an effort to describe test performance, these "at-risk" infants were asked to return for behavioral audiologic assessments, using visual reinforcement audiometry (VRA) at 8 to 12 mo corrected age, regardless of neonatal test results. Sixty-four percent of these subjects returned and reliable VRA data were obtained on 95.6% of these returnees. This approach is in contrast to previous studies in which, by necessity, efforts were made to follow only those infants who "failed" the neonatal screening tests. The accuracy of the neonatal measures in predicting hearing status at 8 to 12 mo corrected age was determined. Only those infants who provided reliable, monaural VRA test results were included in the analysis. Separate analyses were performed without regard to intercurrent events (i.e., events between the neonatal and VRA tests that could cause their results to disagree), and then after accounting for the possible influence of intercurrent events such as otitis media and late-onset or progressive hearing loss. RESULTS: Low refer rates were achieved for the stopping criteria used in the present study, especially when a protocol similar to the one recommended in the National Institutes of Health (1993) Consensus Conference Report was followed. These analyses, however, do not completely describe test performance because they did not compare neonatal screening test results with a gold standard test of hearing. Test performance, as measured by the area under a relative operating characteristic curve, were similar for all three neonatal tests when neonatal test results were compared with VRA data obtained at 8 to 12 mo corrected age. However, ABRs were more successful at determining auditory status at 1 kHz, compared with the otoacoustic emission (OAE) tests. Performance was more similar across all three tests when they were used to identify hearing loss at 2 and 4 kHz. No test performed perfectly. Using either the two- or three-frequency pure-tone average (PTA), with a fixed false alarm rate of 20%, hit rates for the neonatal tests, in general, exceeded 80% when hearing impairment was defined as behavioral thresholds > or =30 dB HL. All three tests performed similarly when a two-frequency (2 and 4 kHz) PTA was used as the gold standard; OAE test performance decreased when a three-frequency PTA (adding 1 kHz) was used as the gold standard definition. For both PTA and all three neonatal screening measures, however, hit rate increased as the magnitude of hearing loss increased. CONCLUSIONS: Singly, all three neonatal hearing screening tests resulted in low refer rates, especially if referrals for follow-up were made only for the cases in which stopping criteria were not met in both ears. Following a protocol similar to that recommended in the National Institutes of Health (1993) Consensus Conference report resulted in refer rates that were less than 4%. TEOAEs at 80 dB pSPL, DPOAE at L1 = 65, L2 = 50 dB SPL and ABR at 30 dB nHL measured during the neonatal period, and as implemented in the current study, performed similarly at predicting behavioral hearing status at 8 to 12

Acoustic Stimulation↗

PubMed2000

[Universal neonatal hearing screening--attitude and fears of mothers].

Maternal anxiety in the event of a false positive result is an argument against universal hearing screening in newborns. The aim of this study was to investigate the mothers' attitudes towards neonatal hearing screening and their anxiety in case of a positive result. The study comprises 75 mothers. Using a standardized interview 40 mothers were questioned, 38 of whom already knew about this type of health check. Despite the possibility of a false positive result 33 mothers consented to the general newborn hearing screening. The positive attitude towards screening was associated with knowledge about the test and presence during its performance. Of 20 additional mothers who were interviewed about their anxiety following a positive result their baby had received on the first test, only 2 declared to be very worried. Of 15 additional mothers whose babies had failed the screening, 4 mothers were worried, 2 of whom stated that they had not been well enough informed about the screening. Both scepticism towards neonatal hearing screening and anxiety following a positive result were associated with lack of information and absence during testing.

Attitude to Health↗

PubMed2001

Acceptance of neonatal genetic screening for hereditary hemochromatosis by informed parents.

The aim of this study was to assess attitudes to neonatal genetic screening for hereditary hemochromatosis. A total of 135 consecutive, pregnant women and their partners attending a hospital antenatal clinic in the Australian Capital Territory were given detailed written and verbal information about potential risks and benefits of neonatal genetic screening. Issues such as uncertainty of disease expression, confidentiality, genetic discrimination, and storage of genetic data were addressed. Attitudes were assessed by interview and questionnaire. There was a high level of acceptance for neonatal genetic screening in general (99%) and for hemochromatosis in particular (91.5%). There was no association of prior knowledge of hemochromatosis, family history of hemochromatosis, ethnicity, age, education, or occupation class with nonacceptance. Of the subjects, 39.5% reported feeling "a little anxious" about the prospect of screening their infants, although only 5.4% reported feeling "very anxious." Reasons given for nonacceptance of screening included inability of the child to give informed consent, insufficient evidence that diagnosis of hemochromatosis in childhood is beneficial, risk of discrimination on genetic grounds, lack of agreement between partners, and privacy issues. These data suggest that an Australian neonatal genetic screening program for hemochromatosis is likely to be accepted by this and similar groups of subjects, but there should be an opportunity for parents who object to screening to opt out of any such program.

Adolescent↗

PubMed2003

Neonatal hypothyroid screening in monitoring of iodine deficiency and iodine supplementation in Poland.

UNLABELLED: Neonatal hypothyroid screening in Poland is standardised and all newborns screening data are registered in central data base in the National Institute of Mother and Child. About 400,000 newborns are screened per year for hypothyroidism (TSH) and phenylketonuria (PKU). Unfortunately, obstetric clinics still use antiseptics that contain iodine. According to our data 71% of clinics used iodine in 1998 (58% iodine tincture and 13% povidone iodine) and 58.2% (35.4 iodine tincture and 13% povidone iodine) in the year 2000. Presence of iodine resulted in over 3 times increase of a percentage of TSH levels over cut off, increasing the number of false positives in the hypothyroid screening. Analysis of TSH distribution for iodine containing and iodine free hospitals gave totally different estimation of iodine deficiency according to WHO criteria. In the group of iodine free hospitals 24 regions were classified as not deficient, 9 regions were borderline with a fraction of TSH levels over 5 mlU/l of 3-5%. 10 regions could not be analysed because all hospitals declared use of iodine. In the second group all regions were iodine deficient. TSH distribution since 1994 shows significant decrease of percentage of TSH levels over cut off from 2.23% in 1994 to 0.16 in 1997 and to 0.12 in 2000. These changes are most probably connected with successive introduction of iodine supplementation which became obligatory in 1997 and suggest that iodine supplementation covers iodine requirements during pregnancy. CONCLUSIONS: Iodine deficiency and iodine supplementation in Poland can be studied using TSH blood spot newborn screening results in correlation with data on interfering factors and in reference to modified criteria for the analytical test and the population. To reduce false positive rate in neonatal hypothyroid screening iodine containing antiseptics, particularly iodine tincture, should be withdrawn from all obstetrics clinics in Poland.

Anti-Infective Agents, Local↗