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PubMed1984

A rapid screening test for Duchenne muscular dystrophy using dried blood specimens.

A very simple fluorescent spot screening test for the detection of elevated creatine kinase activity in dried blood specimens is described. The assay uses reagents commercially available in kit form and modifies the procedure for use with whole blood spotted on filter paper. Additional amounts of diadenosine pentaphosphate had to be added to the reaction mixture to inhibit the excess adenylate kinase present in erythrocytes. The sensitivity and reliability of the test is demonstrated. This qualitative assay has the potential for use as a mass neonatal screening test for Duchenne muscular dystrophy.

Clinical Enzyme Tests↗
PubMed1982

Immunoreactive trypsin screening for cystic fibrosis.

Immunoreactive cationic trypsin (irCT) was measured in 22 cystic fibrosis (CF) and 132 control infants. IrCT was analysed with radioimmunoassay of dried blood samples collected for PKU screening around the 5th day of life and stored on filter paper. The mean +/- 1 SD level of irCT for the control infants was 42 +/- 19 micrograms/1. Sixteen of the 22 CF children had an irCT level above 100 micrograms/1 (mean + 3 SD) while 6 had a level at or below this cut-off limit. A specificity of 99%, which gives a sensitivity of 73%, and an approximative noise: signal ratio of 30:1, suggests that the irCT test may be unsatisfactory as a neonatal screening method for CF.

Child, Preschool↗
PubMed1998

Retinopathy of prematurity in multiple-gestation pregnancies.

PURPOSE: To determine differences in incidence of retinopathy of prematurity between neonates of multiple-gestation and single-gestation pregnancies and to analyze differences in severity of retinopathy of prematurity among siblings of multiple-gestation pregnancies. METHODS: We reviewed the records of 149 neonates of multiple-gestation pregnancies and 691 single-gestation neonates screened for retinopathy of prematurity at one hospital from January 1, 1992, through December 31, 1995. The peak stage of retinopathy of prematurity was recorded for all infants. The multiple-gestation infants were then separated into concordant and discordant retinopathy of prematurity groups, with discordance defined as a difference of at least 2 stages of retinopathy of prematurity between siblings. Between siblings with discordant retinopathy of prematurity, multiple factors were compared. RESULTS: Retinopathy of prematurity was present in 69 (46%) of the multiple-gestation neonates. Retinopathy of prematurity was present in 312 (45%) of single-birth neonates. The percentage of multiple-gestation neonates with stages 1, 2, or 3 (prethreshold) or threshold retinopathy of prematurity was similar to that of single-gestation neonates. Stage 4 or 5 retinopathy of prematurity did not occur in either group. CONCLUSIONS: There was no significant difference in stage of retinopathy of prematurity between infants of single-gestation pregnancies vs those of multiple-gestation pregnancies. The majority (84%) of infants of multiple-gestation pregnancies had concordant retinopathy of prematurity. In those infants with discordant disease, zygosity and postgestational factors other than lowest serum glucose were not related to severity of retinopathy of prematurity.

Adult↗
PubMed2006

Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns.

BACKGROUND: We describe a simple qualitative visual ultramicroassay based on the colorimetric method introduced by Heard et al. for the detection of biotinidase deficiency in dried blood samples spotted on filter paper. METHODS: The assay uses 3-mm discs of dried blood on Schleicher and Schuell 903 filter paper and ultramicrovolumes of each reagent. Ten thousand newborn samples from the National Screening Program for the Detection of Phenylketonuria were evaluated. RESULTS: The ultramicroassay shows a good reproducibility. The lower detection limit is around 2% of the mean normal activity. We found one sample with the absence of enzymatic activity, another that was between 10% and 30%, and 10 with activity levels <40%. There was coincidence of our results with those obtained by the conventional colorimetric method that uses B-PAB as substrate. CONCLUSIONS: The qualitative colorimetric ultramicroassay does not require special laboratory equipment and it is suitable for the neonatal screening of biotinidase deficiency.

Biotinidase Deficiency↗
PubMed1986

A Chinese family with phenylketonuria and maternal phenylketonuria detected by family screening.

A 16-year-old boy with classical phenylketonuria (PKU) and mild mental retardation (IQ 69) was detected by the screening of mentally retarded school children in Taiwan with Guthrie's bacterial inhibition assay. The follow-up family study showed that one of his married elder sisters suffered from borderline mental retardation (IQ 75) and was also diagnosed as a classical case of PKU. She had borne one boy and one girl, both suffering from mild mental retardation, microcephaly, delay in linguistic development and severe growth retardation. This is the first known Chinese family with maternal PKU. To prevent future mental retardation caused by maternal PKU, the simultaneous establishment of a register system with a neonatal screening programme, is indicated for the follow-up of PKU girls, screening of the whole family of newly discovered PKU cases, and to exclude unrecognized maternal PKU in women who have given birth to a microcephalic child.

Adolescent↗
PubMed1993

Screening for HIV infection in pregnancy.

Antenatal HIV screening policies throughout the British Isles were surveyed and results linked to data on HIV-infected pregnant women notified through the Royal College of Obstetricians and Gynaecologists. Units offering HIV testing to all pregnant women were compared with those offering it only to women considered to be at risk, and in both situations fewer than 50% of infected women were identified as HIV infected for the first time in antenatal clinics. Based on laboratory reports of HIV infection in women of childbearing age, paediatric reports of children born to HIV positive women and unlinked anonymous neonatal screening programmes, there was evidence of under-recognition of HIV infection in pregnancy, particularly in England and Wales.

AIDS Serodiagnosis↗
PubMed1996

[Results of antireflux surgery in infants with vesicoureteral reflux].

BACKGROUND: Due to the advancement of prenatal and postnatal ultrasound screening in addition to better understanding by pediatricians, more infants have been detected to have vesicoureteal reflux. There are still debates, however, about their management whether to take conservative or surgical treatment. METHODS: We analysed clinical courses of 51 children with primary reflux undergoing antireflux surgery when they were under 1 year. RESULTS: A total of 41 infants (80%) presented with febrile urinary tract infections. The first UTI was seen as early as 7th day after birth, with the average age of 2 months. Seven infants had hydronephrosis detected by prenatal ultrasound, and 2 were identified by neonatal screening ultrasonography. Sixty-eight of 86 reflux ureters (79%) showed high grade reflux (grade IV approximately V). All the other 18 ureters with mild to moderate grade of reflux except one accompanied with contralateral high grade reflux. One ureter with grade II reflux was associated with contralateral obstructed meganreter. Renal parenchymal abnormalities, either with scarring and/or small kidney, were identified in 64 kidneys (74%) at or before the reimplantation. The operation was done as early as 1 month-old with the average age of 5.6 months. Among the children, 24 (47%) underwent anti-reflux surgery before 6 month-old. Smallest infant weighted 2500 gr at the time of operation. Reimplantation was done by the Cohen transverse advancement technique in 75 ureters (87%). The modified Politano-Leadbetter method in 6 with Hutche's diverticulum, and the Glenn-anderson advancement method in 5 with moderate to mild reflux. Two dilated ureters were treated with folding of the intravesical segment. Follow-up voiding cystourethrogram of 49 children at 6 months revealed no evidences of persistent reflux. There were no patients with obstruction of reimplantation except one with slight upper-tract dilatation. One infant revealed new low grade contralateral reflux, and he is being observed. Two children presented pyelonephritis after the operation. CONCLUSION: Our success rate of 100% in antireflux surgery enables us to continue our policy to perform early operative interventions in infants with high grade reflux. In addition to the meticulous and careful technique, the conditions for successful results include; 1) A through checkup of the lower tracts by VCG and endoscopy. 2) Find the better operative instruments for the small bladder. 3) Do not hesitate to perform the ureteral tapering. 4) Make good use of operative loupe.

Age of Onset↗
PubMed1985

[Screening studies with the BOEL test for the early diagnosis of hearing loss in infants. Experiences with 4,622 cases].

Hearing screening with reactometry in the newborn is now being considered too expensive and fails to detect quite a number of deaf children. Conversely, experiences at the age of 8 months with BOEL-Test (a distraction test, which yields further information on visual and neurological deficiencies) have shown that it becomes possible to detect the majority of hearing defects. As this age level is quite adequate for diagnosis even of defects arising in the first year (progressive genetic deafness, deafness due to infections etc.) and considering that rehabilitation can start only after this term, the authors suggest to reserve neonatal screening only for risk cases and to retest all children with the BOEL-Test.

Attention↗
PubMed1993

[The effect of ultrasonography screening of hips in newborn infants on femur head necrosis and the rate of surgical interventions].

We compared two similarly sized groups of sonographically unstable or decentered hips with comparable initial findings, both treated by standardized conservative primary treatment. The results show that an early definite diagnosis improves the prognosis. If built on a secure initial diagnosis rationally grounded and efficient conservative therapy can be initiated and followed through on. Since the treatment is started extremely early, the hip can benefit from the considerably greater potential for spontaneous development present in the first three months of life. In this way we can shorten the treatment time considerably and also complete it at a younger age. Finally, early treatment also reduces the risk of the complication of necrosis of the femoral head and significantly decreases the rate of surgical procedures. Only a sufficiently well executed and comprehensively organized sonographic neonatal screening program can produce a definite very early diagnosis and with it almost 100% successful early treatment of all grades of disturbances of hip maturity. Sonographic screening of the newborn is a very important piece in the jigsaw of prophylaxis and primary prevention in our public health care program.

Acetabulum↗
PubMedDate not supplied

Thyroid autoimmunity: really an important cause of sporadic congenital hypothyroidism?

The transplacental transfer of maternal antithyroid antibodies has recently been hypothesised as an aetiological factor in CH. In order to test this hypothesis, mothers and newborns identified by neonatal screening as suffering from hypothyroidism were tested for TgAb, MAb and TSHBAb. Significant titres of MAb and TgAb antibodies were found in 5% of the newborns and their mothers. TSHBAb was found in 1 out of 18 newborns and 1 out of 14 mothers. A causal link was found between the transplacental transfer of IgG inhibiting thyroid growth and function induced by TSH from a mother with Hashimoto's thyroiditis a newborn with CH and in her CH newborn. However the present series did not reveal the high percentage of cases with CH and thyroid antibodies reported by others and particularly not among the neonates born to mothers without any kind of maternal thyroid pathology. It therefore seems that the role of autoimmunity in the pathogenesis of CH and TH is yet to be clarified.

Autoantibodies↗
PubMedDate not supplied

Total blood thyroxine and TSH levels in the newborns of an endemic goiter area in Romania.

A neonatal screening of two approximately equal groups (376 in all) from (A) Bucharest (a non-endemic area) and (B) Cimpulung (an endemic area) was undertaken. RIA of T4 and TSH in dry whole blood spots was performed using blood collected 3--5 days after birth. The results show a significantly lower T4 valu in group (B) as against group (A), i.e. 105.5 +/- 3.61 nmol. L-1 as against 146.3 +/- 1.61 nmol. L-1, and a significantly increased TSH value, i.e. 19.1 +/- 0.76 microU. ml-1 as against 10.9 +/- 0.84 microU. sml-1. No sex-related differences were noticed. Our findings point to a neonatal thyroid hypofunction in the endemic area and to the need to establish the range of variation for the thyroid parameters used as criteria for congenital hypothyroidism in endemic areas. Iodine prophylaxis applied to pregnant women in such areas is also discussed.

Congenital Hypothyroidism↗
PubMedDate not supplied

[Transient neonatal tyrosinemia: a frequent abnormality]

OBJECTIVE: To evaluate the frequency of transient neonatal tyrosinemia, with or without secondary hyperphenylalaninemia,observed through neonatal screening for metabolic disorders, andthe need of monitoration and intervention with drugs and/or specialdiet in selected cases. METHODS: 457.870 dried blood samples obtained by heel stickfrom 3 to 20 days old babies were qualitatively evaluated by aminoacid thin-layer chromatography. Positive cases were quantitativelyconfirmed in serum samples by fluorimetric measurement of tyrosineand phenylalanine. RESULTS: 1.231 dried blood samples displayed positive resultsfor tyrosine in the cromatographic evaluation. The fluorimetricserum analysis disclosed normal levels of tyrosine and phenylalaninein 822 patients. The remained 409 patients showed hightyrosine levels and were placed in three groups according to thetyrosine concentration. In 118 of these cases serum phenylalaninewas also increased. CONCLUCIONS: Transient neonatal tyrosinemia is a very frequentdisorder in neonates (1/372); in some cases very high levels werefound, not only of tyrosine but also phenylalanine. As this findingis not yet accepted as absolutely harmless, the monitoration of thissituation and the use of measures to lower the tyrosine and phenylalaninelevels should be considered by the pediatrician.

Journal Article↗
PubMed2004

Learning and behavioural difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuria.

Universal screening introduced in the 1960s has reduced the incidence of learning disability resulting from phenylketonuria (PKU), which is a treatable condition. Nonetheless, PKU may still be having an impact on the paediatric-age population. We report a woman with previously undiagnosed PKU who was born before the onset of universal screening. She is of normal intelligence, and so the diagnosis was not suspected until after the birth of her three children. Her serum phenylalanine concentration was found to be in excess of 1 mmol/L, well into the toxic range. She has had three sons, all of whom have a significant degree of learning disability resulting from intrauterine exposure to toxic levels of phenylalanine. None of the sons had microcephaly, a physical sign that, if present, might have helped to point towards the correct diagnosis. We suggest that maternal PKU should be suspected where there is sibling recurrence of cognitive impairment, particularly where the mother was born before the initiation of the neonatal screening programme for PKU.

Adult↗
PubMed1997

A thyroxine dosage of 8 micrograms/kg per day is appropriate for the initial treatment of the majority of infants with congenital hypothyroidism.

UNLABELLED: The adequate L-thyroxine dosage for the initial treatment of infants with congenital hypothyroidism is a subject of controversy. Some recommend higher dosages (> 10 micrograms/kg/day) to ensure adequate levels, while others advocate lower dosages to permit normalisation of thyroid status. The aim of this study was to evaluate the results of a treatment strategy using an initial dosage of 7.5-8.0 micrograms/kg per day, TSH measurements being taken at 15 and 30 days of treatment. Fifty one newborns infants with primary congenital hypothyroidism detected by neonatal screening were treated with the same therapeutic strategy. A mean L-thyroxine dosage of 7.9 micrograms/kg per day at the onset of treatment and 6.6 micrograms/kg/d at 2 months, normalised the FT4 and FT3 levels at 15 days in 100% and TSH levels at 2 months in 90% of cases. Many patients showed elevated levels of FT4 and a systematic higher initial dosage could expose many infants to a dangerous hyperthyroidism. Patients with abnormal TSH levels at 2 months already had higher TSH levels in the first 8 weeks of life and, despite higher L-thyroxine dosage, also exhibited lower FT4 and FT3 levels. These patients who needed an early increase in dosage had already shown a more profound ante and neonatal hypothyroidism. This subgroup of patients require a higher dosage of thyroxine and early assessment of FT4, FT3 and TSH levels are required for optimum dosage choice. CONCLUSION: Even though a subgroup of patients may require a higher dosage of L-thyroxine, an initial dosage of 7.5-8.0 micrograms/kg per day, with an early assessment of FT4, FT3, and TSH levels, is adequate for the treatment of the majority of infants with congenital hypothyroidism.

Congenital Hypothyroidism↗
PubMed1984

Screening cord blood for sickle haemoglobinopathies in Brent.

Between 1981 and 1983, 3165 consecutive specimens of cord blood were tested at the Central Middlesex Hospital for the presence of an abnormal haemoglobin: the incidence of sickle cell trait was 2.8%, of HbC trait 0.9%, and the overall incidence of an abnormal haemoglobin at birth was 6.9%. Five babies with homozygous sickle cell disease, three with HbSC, and three with either HbCC or HbC beta thalassaemia were detected. Twenty two per cent of the mothers were of Afro-Caribbean origin. The cost of the test was 30p. An H6000 blood count was carried out on 1000 consecutive cord blood samples. The mean red cell volume was 97.95 (SD 3.67) fl. Thirteen cord blood samples had a mean cell volume below 85 fl, and all contained Hb Barts. In addition, six samples with a mean cell volume between 86 and 92 fl also showed Hb Barts on electrophoresis. The overall incidence of Hb Barts was 2.1%. These results indicate that the incidence of HbSS and HbSC on neonatal screening in Brent is similar to that found in the urban areas of North America and that the number may be predicted from the number of births to mothers of Afro-Caribbean origin.

Anemia, Sickle Cell↗
PubMed1987

Should we screen for congenital adrenal hyperplasia? A review of 117 cases.

A total of 117 patients with congenital adrenal hyperplasia who were under the care of paediatricians at Birmingham Children's Hospital between 1958 and 1985 were reviewed retrospectively. There were 47 boys (40%) and 70 girls (60%); 30 of the 47 boys (64%) and 38 of the girls (58% of the 66 whose salt state was known) were salt losers. In all salt losers the condition was diagnosed before the age of 6 months, 90% of the diagnoses being made during the first month. The ratio of boys to girls, the distributions of salt losers to non-salt losers, and the age at diagnosis were studied in relation to the year of birth. Early diagnosis was found to be more common in children born after 1970 due partly to the introduction of a method of assaying the concentration of 17 alpha-hydroxyprogesterone in serum, partly to an increase in the number of paediatricians in the West Midlands, and partly to the appointment of a paediatric endocrinologist. A neonatal screening programme does not seem to be necessary.

Adrenal Hyperplasia, Congenital↗
PubMed1998

Costs, effects, and savings of screening for cystic fibrosis gene carriers.

STUDY OBJECTIVE: Evaluating the costs, effects, and savings of several strategies for cystic fibrosis (CF) gene carrier screening. DESIGN: A general model for evaluating prenatal, preconceptional, school, and neonatal carrier screening was constructed. For prenatal and preconceptional screening, two strategies were evaluated: single entry and double entry two step couple screening. Firstly, the Dutch situation was evaluated prospectively; subsequently the results were generalised to other carrier frequencies. SETTING: Prospective simulation model. MAIN RESULTS: Of all screening strategies, neonatal carrier screening gives most carrier couples an informed choice concerning reproduction. If the parents of carrier newborns would not be tested however, prenatal screening detects most carrier couples. Prenatal and single entry preconceptional screening programmes have a favourable cost-savings balance in the Netherlands under a wide range of assumptions. For double entry preconceptional screening and neonatal screening, high enough values of uptake of screening, prenatal diagnosis, and induced abortion are necessary. School carrier screening does not have a favourable cost-savings balance. CONCLUSIONS: If a CF screening programme is judged to be useful on individual and social grounds, costs considerations are no obstacle for prenatal and single entry preconceptional screening.

Child↗
PubMed1998

A mouse model for hereditary thyroid dysgenesis and cleft palate.

Alteration of thyroid gland morphogenesis (thyroid dysgenesis) is a frequent human malformation. Among the one in three to four thousand newborns in which congenital hypothyroidism is detected, 80% have either an ectopic, small and sublingual thyroid, or have no thyroid tissue. Most of these cases appear sporadically, although a few cases of recurring familial thyroid dysgenesis have been described. The lack of evidence for hereditary thyroid dysgenesis may be due to the severity of the hypothyroid phenotype. Neonatal screening and early thyroid hormone therapy have eliminated most of the clinical consequences of hypothyroidism such that the heritability of this condition may become apparent in the near future. We have recently cloned cDNA encoding a forkhead domain-containing transcription factor, TTF-2, and have located the position of the gene, designated Titf2, to mouse chromosome 4 (ref. 3). Titf2 is expressed in the developing thyroid, in most of the foregut endoderm and in craniopharyngeal ectoderm, including Rathke's pouch. Expression of Titf2 in thyroid cell precursors is down-regulated as they cease migration, suggesting that this factor is involved in the process of thyroid gland morphogenesis. Here we show that Titf2-null mutant mice exhibit cleft palate and either a sublingual or completely absent thyroid gland. Thus, mutation of Titf2-/- results in neonatal hypothyroidism that shows similarity to thyroid dysgenesis in humans.

Animals↗