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PubMed1982

Newborn thyroid screening in a municipal hospital.

Successful recall of patients with abnormal results of neonatal screening tests is difficult to accomplish. A system of centralization of the process was implemented at a municipal hospital and evaluated after one year. Two thousand two hundred thirty-four newborn infants were screened for congenital hypothyroidism. Ninety-one percent of the 101 infants who required recall were returned for retesting. Centralization of the process of recall of newborns with abnormal screen results was an effective way to obtain additional specimens successfully in a setting in which patients use carried pediatric primary health care facilities. However, the high recall rate experienced by our hospital resulted in high costs in terms of professional and personnel time and anxiety for the individual families.

Congenital Hypothyroidism↗

PubMed2004

Is there any association between consanguinity and hearing loss.

BACKGROUND: Hearing loss (HL) and its complications appear to be increasingly common in developing countries. Previous studies have supported the association between hearing loss and consanguinity. OBJECTIVE: The aim of the present study was to determine the frequency of hearing loss and its association with consanguinity among Qatari population. In addition, correlation between hearing loss and Rhesus (Rh) blood groups has been investigated. DESIGN: This is a cross-sectional study. SETTING: The study conducted at the Hamad General Hospital, Hamad Medical Corporation. SUBJECTS: Total sample of 2800 infants screened and 2277 subjects were eligible to be included in the study. METHODS: The neonatal screening for hearing loss was conducted from January 2003 to November 2003 among all the 2800 infants born during that period. Some of them were admitted to neonatal intensive care unit (NICU). The hearing loss was screened using otoacoustic emission (Garson Stadler Incorporation, GSI-70), auditory brain stem responses (ABR) and tympanogram. RESULTS: Out of 2277 infant screened, the prevalence of hearing loss was (119/2277) 5.2%. The prevalence of HL was more common in boys (2.7%) than in girls (2.5%). We did not find any statistical significance differences between genders with the respect of HL. Parental consanguinity was more common among HL cases compared with non-HL 60.5% versus 25.3% (p < 0.0001). Family history of hearing loss did not show any differences between the two groups. 4.2% versus 4.3%. Risk factors like caesarean section, prenatal smoking and prenatal high blood pressure did not show any significant differences between the two groups. However, admission to NICU is associated with increase prevalence of HL 8.4% versus 4.4% (p = 0.043). The present study revealed that strong correlation between hearing loss, consanguineous (r = 0.217, p < 0.01), father education level illiterate (r = 0.293, p < 0.01), mothers consanguineous (r = 0.206, p < 0.01), mothers educational level illiterate (r = 0.228, p < 0.01), mother blood group positive (r = 0.476, p < 0.01), family history of HL among first or second degree of relatives (r = 0.620, p < 0.01) and father hypertension (r = 0.570, p < 0.01). Furthermore, a significant correlation between hearing loss and Rh blood groups has been discovered. CONCLUSION: The present study was directed at determining the prevalence and risk factors of HL in the infant population of Qatar. The data revealed that parental consanguinity was more common among hearing loss cases. There is a strong correlation between hearing loss and baby's age.

Cohort Studies↗

PubMed2003

A pilot study of 'fast track' antenatal screening for haemoglobinopathies.

The NHS Plan launched in 2000 advocated a linked antenatal and neonatal screening programme for haemoglobinopathies. Currently screening practices vary widely across the UK and patient sampling is generally performed in a hospital setting. The process is flawed and frequently fails to provide accurate and timely information. In this study we demonstrate that organisational changes can improve the efficiency and quality of screening. The primary care screening process described here has increased partner testing rates and allowed early identification of at risk couples.

Caribbean Region↗

PubMed1998

Neonatal cranial ultrasound screening for intraventricular haemorrhage.

The cost effectiveness of performing routine neonatal cranial ultrasound scans to diagnose intraventricular haemorrhage (IVH) on cohorts of high risk infants is in question. In the early 1980s cranial ultrasound scans were performed on preterm infants to expand knowledge of the incidence, aetiology, pathogenesis and evolution of IVH. In many neonatal units high risk infants are scanned on days 5-7 and 10-14 and prior to discharge for extremely low birthweight (ELBW) infants. Cranial ultrasound scanning is often used as a surrogate for assessment of neurodevelopmental outcome with information from meta analyses used to counsel parents about the likelihood of subsequent neurosensory disability.

Cerebral Hemorrhage↗

PubMed1999

Newborn screening for haemoglobinopathies: the Brussels experience.

OBJECTIVES: To determine the prevalence of haemoglobinopathies and the need for neonatal screening for haemoglobinopathies in Brussels. METHODS: Between December 1994 and June 1998 23,136 cord blood samples obtained in eight hospital nurseries of Brussels were systematically screened for haemoglobinopathies by isoelectric focusing. RESULTS: 45% of the newborns were from regions at risk for haemoglobinopathies. Sickle cell disease was diagnosed for 11 neonates (0.048%) and beta thalassaemia major for one neonate. Three hundred and fifty neonates (1.5%) were carriers for a haemoglobin variant, and Hb Bart's was found in 672 cases (2.9%). These prevalences are similar to those reported elsewhere in northern Europe. CONCLUSIONS: These results confirm the value of universal screening for haemoglobinopathies in Brussels.

Anemia, Sickle Cell↗

PubMed2001

Is the birthdate a risk factor for congenital hypothyroidism? A statistical answer based on personal experience.

BACKGROUND: To verify statistically the hypothesis that birthdate represents a risk factor for Congenital Hypothyroidism, as proposed by some European Authors. Moreover, to verify the existence of seasonal cyclic trends in TSH levels. METHODS: For the verification of birthdate as a risk factor, we considered retrospectively a data set of all consecutives newborns of Marche Region (Italy) affected by Congenital Hypothyroidism, in the period 1981-1996 (n = 92). For the evaluation of seasonal cyclic trends in TSH, we considered the level of the hormone in all newborns of Marche Region screened in the period 1989-1996. Data were collected from Neonatal Screening Register of Marche Region. All the statistical analyses are based on circular statistics techniques (Rayleigh test, Roger test, estimation of density by kernel method, Mardia test for circular-linear correlation, Maximization of Mean Vector Length). RESULTS: No cyclic trend was pointed out with regard to Congenital Hypothyroidism; neither seasonal rhythms nor other cyclic patterns of TSH levels were evidenced. CONCLUSIONS: Neither the hypothesis of birthdate as a risk factor for Congenital Hypothyroi-dism, nor the existence of seasonal variations in TSH hormone releasing were confirmed.

Congenital Hypothyroidism↗

PubMed1979

Sensitive trypsin assay for dried-blood specimens as a screening procedure for early detection of cystic fibrosis.

An immunoreactive-trypsin assay uses small dried-blood spots (diameter 1.25 mm) and is therefore suitable for incorporation in established neonatal screening schemes. Blood specimens from neonates with cystic fibrosis had trypsin levels greater than those in control subjects, thus confirming earlier findings. Trypsin levels were below normal in several older patients with cystic fibrosis.

Adolescent↗

PubMed1999

Alterations of neonatal thyroid function.

Recent progress has been made in understanding the pathogenesis of neonatal thyroid disorders. Autosomal recessive inheritance of mutations of the thyroid peroxidase and thyroglobulin genes has been described in some patients with congenital hypothyroidism (CH) and a family history of CH. Autosomal recessive inheritance of mutations of the thyrotrophin (TSH) receptor gene has also been reported in patients with CH and thyroid hypoplasia, and autosomal dominant mutations of the PAX8 gene have been described in patients with different forms of thyroid dysgenesis. These discoveries are important for patients with CH diagnosed by neonatal screening, as these patients will have normal fertility. The molecular genetic analysis of mutations of the TSH gene in patients with familial and sporadic cases of isolated central CH, who are missed by TSH screening programmes, now enables rapid diagnosis and appropriate therapy in the neonate. In newborn infants with severe non-autoimmune hyperthyroidism, autosomal dominant gain-of-function mutations in the TSH receptor gene have been demonstrated. In these patients, molecular genetic studies are extremely helpful in therapeutic decision making, as early thyroid ablation is the only effective treatment that avoids the sequelae of long-term hyperthyroidism. Molecular genetic studies are therefore useful in the diagnostic work-up of neonatal thyroid alterations.

Congenital Hypothyroidism↗

PubMed1983

Psychological reactions in 102 families with a newborn who has a falsely positive screening test for congenital hypothyroidism.

The potential psychological risks of falsely positive test results in neonatal screenings have not been studied previously. 20 000 newborns were screened for congenital hypothyroidism. Of the 144 positive tests, 137 were false. The families of 102 babies with false positives were explored in reference to their (1) initial parental psychic reactions (emotional reactions and abilities for coping) and (2) residual reactions 6 to 12 months later. 78 families initially exhibited strong emotional reactions. Providing information about a positive screening test is therefore an acute strain to the majority. After a period of 6 to 12 months there was in 18 families persistent insecurity regarding the baby's health. These concerns were linked to the family to the screening and the disease screened for. This may impair the parent-child relation and thus, the child's development. Thus a false positive test appear to trigger in the majority a development of a psychic crisis. 12 families seemed however to have been totally untouched by the potential threat of the information. The crisis is effectively solved by most (consideration must be paid to the integrated psychological support given to all). It is not known whether the 18 risk families actually have been iatrogenically hurt or if their worries brought to attention in connection with the screening merely represent habitual psychic maladjustment. Preparation for parenthood and education about screening principles are beneficial and important. This study demonstrates the importance not only of asking how much worry is elicited but also how this worry is being handled (coping ability) in order to provide a fair estimate as to which families are at risk.

Attitude to Health↗

PubMed1993

[Phenylketonuria in spite of screening].

A girl with psychomotor retardation is described in whom the diagnosis phenylketonuria (PKU) was made at the age of 6.5 years. Previous investigations were not carried out as she was screened for PKU when she was a baby. Since the nationwide neonatal screening for PKU was started in 1974, 4 children have been detected with a false negative test result.

Celiac Disease↗

PubMed1989

Immunoreactive trypsinogen screening for cystic fibrosis: characterization of infants with a false-positive screening test.

Blood immunoreactive trypsinogen (IRT) is elevated in newborns with cystic fibrosis (CF) and has been used as a neonatal screening test. However, not only is the benefit of early diagnosis unknown, but also the sensitivity, specificity, and time related decline of IRT values have yet to be comprehensively evaluated. This report describes the characteristics of infants with a false-positive IRT in our experience with CF screening of 87,000 infants. The IRT value was elevated in 92 newborns; 13 had a confirmed diagnosis of CF by quantitative pilocarpine iontophoresis sweat testing, and 79 infants did not have CF and were therefore classified as false positives by IRT screening. In order to test the hypothesis that perinatal stress factors are associated with high neonatal IRT values, we evaluated Apgar scores at 1 and 5 minutes. We found that the scores of false-positive infants were significantly lower (P = 0.0004 and P = 0.0102 at 1 and 5 minutes, respectively), compared with infants in the general population. While perinatal asphyxia as reflected by low Apgar scores is an associated factor accounting for an elevated IRT value, the majority of non-CF newborns with an elevated IRT have normal Apgar scores.

Apgar Score↗

PubMed1992

[Comparative study of evoked otoacoustic emissions and auditory potentials of the brain stem in the neonatal period].

Evoked otoacoustic emissions (EOAE) are a recently discovered technique that is related to a good audiological status. It is a quick, simple and harmless test that can be used in neonatal screening. We report and compare here the results from a series of neonates in which we have performed both, this test and a brainstem response (ABR) test. The correlation between techniques was good, especially in normal positive neonates where the correlation was 100%. However, EOAE only explores the cochlear status and will not detect retrocochlear pathologies.

Audiometry, Evoked Response↗

PubMed2006

BiliCheck transcutaneous bilirubinometer: a screening tool for neonatal jaundice in the Chinese population.

OBJECTIVE: To verify the usefulness of the BiliCheck transcutaneous bilirubin meter as a screening device for neonatal jaundice in a Chinese population compared with the Minolta bilirubin meter. DESIGN: A prospective correlation study that compared transcutaneous bilirubin measurements with serum bilirubin levels. SETTING: Obstetric ward and a neonatal unit of a regional hospital in Hong Kong. PATIENTS: Neonates with gestation above 32 weeks with neonatal jaundice who were admitted between April 2001 and February 2002. MAIN OUTCOME MEASURES: Transcutaneous measurements of serum bilirubin obtained from the forehead and the sternum with two instruments: BiliCheck and Minolta Airshields JM 102. RESULTS: A total of 77 term and six near-term babies (gestation, 32-37 weeks) were recruited. The mean age at the time of data collection was 3.96 days (range, 2-9 days). The correlations between serum bilirubin and transcutaneous bilirubin measurements of the two devices at the two sites were high, with a coefficient of 0.718 (95% confidence interval, 0.610-0.800; n=100) for forehead measurements, and 0.814 (95% confidence interval, 0.740-0.870; n=99) for sternum using the Minolta Airshields JM 102; and a coefficient of 0.757 (95% confidence interval, 0.657-0.827; n=98) for forehead measurements, and 0.794 (95% confidence interval, 0.700-0.862; n=92) for sternum using the BiliCheck. For BiliCheck, a cut-off point of 250 micromol/L at the forehead and 260 micromol/L at the sternum had a specificity of 61.9% and 70.0%, respectively with a sensitivity of 100% for the detection of serum bilirubin concentrations of 250 micromol/L or higher. This level is commonly used as the level for initiation of treatment such as phototherapy. CONCLUSION: BiliCheck is a useful screening tool for neonatal jaundice in the Chinese population and is comparable with the Minolta Airshields JM 102.

Bilirubin↗

PubMed2003

Central congenital hypothyroidism due to gestational hyperthyroidism: detection where prevention failed.

Much worldwide attention is given to the adverse effects of maternal Graves' disease on the fetal and neonatal thyroid and its function. However, reports concerning the adverse effects of maternal Graves' disease on the pituitary function, illustrated by the development of central congenital hypothyroidism (CCH) in the offspring of these mothers, are scarce. We studied thyroid hormone determinants of 18 children with CCH born to mothers with Graves' disease. Nine mothers were diagnosed after pregnancy, the majority after their children were detected with CCH by neonatal screening. Four mothers were diagnosed during pregnancy and treated with antithyroid drugs since diagnosis. Another four mothers were diagnosed before pregnancy, but they used antithyroid drugs irregularly; free T(4) concentrations less than 1.7 ng/dl (<22 pmol/liter) were not encountered during pregnancy. All neonates had decreased plasma free T(4) concentrations (range 0.3-0.9 ng/dl, 3.9-11.5 pmol/liter); plasma TSH ranged between 0.1 and 6.6 mU/liter. TRH tests showed pituitary dysfunction. Seventeen children needed T(4) supplementation. Because all mothers were insufficiently treated during pregnancy, it is hypothesized that a hyperthyroid fetal environment impaired maturation of the fetal hypothalamic-pituitary-thyroid system. The frequent occurrence of this type of CCH (estimated incidence 1:35000) warrants early detection and treatment to minimize the risk of cerebral damage. A T(4)-based screening program appears useful in detecting this type of CCH. However, the preferential and presumably best strategy to prevent CCH caused by maternal Graves' disease is preserving euthyroidism throughout pregnancy.

Antithyroid Agents↗

PubMed1981

Problems encountered in the early diagnosis and management of congenital dislocation of the hip.

This paper reports the results of screening 53033 infants for congenital dislocation of the hip between 1970 and 1979, and compares them with the results of a similar screening programme between 1960 to 1969. The number of dislocations missed at neonatal examination is unaltered at 0.11 per cent of live births. Operative treatment was needed in a further 0.07 per cent of the recent series even though the dislocations had been diagnosed within 24 hours of birth. The reasons for the failure of neonatal screening are discussed, and suggestions are made which will improve the situation.

Child, Preschool↗

PubMed1991

[Neonatal pilonidal sinuses and screening by medullary ultrasonography: preliminary results].

The authors report on their preliminary experience with ultrasound as a screening examination in neonates presenting pilonidal sinuses. Of the 100 patients examined over the 2 previous years, three pathological cases were found (1 tethered cord, 1 lipoma of the filum terminale and one localized hydromelia). Abnormal or doubtful cases were confirmed or further investigated by magnetic resonance. Ultrasound seems to be an accurate technique for the detection of malformation of spinal canal content in neonates under one month of age.

Humans↗

PubMed1995

[Growth in children with impairment of thyroid gland function].

BACKGROUND: Changes of thyroid function affect beyond doubt the growth rate and bone maturation. In particular thyroid hypofunction during the first months of life leads not only to irreversible disorders of the development of the CNS but causes also a significant impairment of growth. In older children and adolescents with a more long-lasting thyroid dysfunction milder growth disorders without mental retardation were observed. The effect on growth by thyroid hormones takes place at the level of metabolic processes of every single cell and in particular at the level of growth cartilage. The purpose of our investigation was to test the relationship between the production of the growth factor somatomedin C (insulin growth factor-1) and the thyroxine level in children with congenital hypothyroidism revealed during neonatal screening. METHODS AND RESULTS: The somatomedin (SMA) activity was examined in 13 neonates aged 10-23 days with confirmed CH. Total thyroxine (T4) and thyroid stimulating hormone (TSH) were estimated using commercial RIA kits. SMA was assessed by Hall's biological method in Schimpff and Donnadie's modification. The control group comprised 10 healthy children aged 8-20 days and 10 children aged 29-94 days. SMA was examined before and then one month after the onset of L-thyroxine treatment. Before treatment the author found in 10-23 old infants with congenital hypothyroidism significantly lower SMA values than in controls (p < 0.01 at the 1% level of significance). During treatment the SMA values in both groups were equal. CONCLUSIONS: Early hormonal substitution therapy, i.e. as soon as possible after delivery, is essential in children with congenital hypothyroidism not only for normal growth of the CNS but also for normal continuous growth.

Congenital Hypothyroidism↗

PubMed1999

Confirmation of deafness in infancy.

AIM: To assess delay in confirming hearing impairment in infants identified by universal neonatal screening and to investigate the causes. PATIENTS: Infants identified from 25 199 babies screened from January 1992 to December 1997. METHODS: A two stage transient evoked oto-acoustic emission test (TEOAE), with a threshold auditory brainstem response (ABR) recording undertaken on those who failed. The screen identified infants with a permanent congenital hearing impairment (PCHI) averaging 40 dBnHL or worse in the best ear. Those with less impairment were also ascertained. The positive predictive value (PPV) of the ABR test and measures of delay between identification and eventual diagnosis were analysed. RESULTS: A targeted PCHI was found in 1.18/1000 neonates. The PPV of the ABR for confirming a targeted PCHI was 100% when the ABR threshold was >/= 80 dBnHL. Nine of 11 infants with this threshold had severe or profound permanent deafness. The delay from ABR to audiological certainty was about 1 month-diagnosis was confirmed around 3 months. There was uncertainty when the ABR was 40-80 dBnHL. The PPV was 60% and 8% when the ABR thresholds were 70 dBnHL and 50 dBnHL, respectively. 85 of 111 infants with ABR thresholds in this range had a temporary conductive impairment. Their early diagnosis depended upon the type and degree of hearing impairment and diagnosis was delayed to about 8 months in these infants. CONCLUSIONS: Hearing impairments identified by universal screening are delayed in all but those with severe or profound bilateral PCHI. This delay can be reduced by applying in early infancy a battery of audiological tests and requires further exploration.

Acoustic Impedance Tests↗