Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Neonatal Screening”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,675 records · Page 93Linked to original sources
PubMed1984

The role of the laboratory in the diagnosis of cystic fibrosis.

Laboratory investigations used for detecting cystic fibrosis have been critically reviewed. The sweat test is still the only investigation that can be used for detecting the disease at any age. Trypsin in blood or serum might have the same discriminatory power during the first three months of life and could be used for neonatal screening. There is no immediate prospect for prenatal diagnosis or heterozygote detection. The change of the pattern of plasma proteins in cystic fibrosis is the same as in other chronic disorders with varying clinical intensity. Albumin and alpha-1-antitrypsin may be used to monitor treatment. The plasma concentration of alpha-2-macroglobulin is considerably decreased in many younger patients.

Adolescent↗
PubMed1991

Intellectual development in children with congenital hypothyroidism in relation to recommended thyroxine treatment.

The relationship between the treatment serum thyroxine level and intellectual development at 2 and 6 years was investigated in 46 Norwegian children with congenital hypothyroidism identified by neonatal screening. The level of serum thyroxine during the first 2 years was positively correlated with the Mental Development Index at 2 years of age (Bayley Scales of Infant Development) and the Verbal IQ at 6 years of age (Wechsler Preschool and Primary Scale of Intelligence). Children with a mean serum thyroxine level greater than 180 nmol/L (14 micrograms/dl) during the first year had a significantly higher Mental Development Index at 2 years and Verbal IQ at 6 years than children with serum thyroxine values less than 129 nmol/L (10 micrograms/dl). Boys had a lower Mental Development Index at 2 years of age than girls (86.9 vs 105.1; p less than 0.001) and a higher frequency of elevated serum levels of thyroid-stimulating hormone during the first year (p = 0.001). No signs of toxic effects of a high hormone level at the time of IQ assessment were detected. However, high serum levels of thyroxine at ages 2 to 4 years in girls were related to lower Performance IQ at age 6 years. The results demonstrate that the serum level of thyroxine is of importance in relation to intellectual development. Thyroxine levels above the upper reference range during the first 2 years were related to best intellectual development at 2 and 6 years.

Analysis of Variance↗
PubMed1977

Dicarboxylic aminoaciduria: an inborn error of amino acid conservation.

A 38-month-old apparently healthy male has been followed for three years because of a massive glutamic and aspartic aminoaciduria detected shortly after birth in a neonatal screening program. Amino acid clearance studies revealed the presence of renal wastage of dicarboxylic amino acids. Intestinal transport and in vitro oxidation of dicarboxylic amino acids were found to be intact. Clinical and metabolic data obtained on a previously described patient and the present case suggest that some patients with dicarboxylic aminoaciduria might have a selective renal conservation defect without clinical abnormalities, whereas others might demonstrate an additional defect in intestinal transport associated with fasting hypoglycemia.

Amino Acids, Dicarboxylic↗
PubMed1984

Abnormalities of thyroid function in infants with Down syndrome.

We describe 12 of 1130 infants with Down syndrome in whom various degrees of thyroid dysfunction were detected by neonatal screening. These aberrations were confirmed subsequently in 11 patients. In eight of 11 children, persistent primary hypothyroidism, was diagnosed, whereas in the remaining three patients transient thyroid abnormalities were noted. The twelfth patient died and could not be retested. We found an incidence of persistent primary congenital hypothyroidism in infants with Down syndrome of 1:141, or about 28 times more than in the general population. The cause of thyroid aberrations in these infants remains unclear; none of the studied patients had agenesis or ectopia of the thyroid gland. On initial screening most infants with Down syndrome had only mild biochemical abnormalities, with gradual decompensation occurring thereafter. Infants with Down syndrome are therefore at high risk for congenital hypothyroidism and should have careful follow-up to prevent further deterioration of their mental development or growth.

Child, Preschool↗
PubMed1985

Age-related alterations in immunoreactive pancreatic lipase and cationic trypsinogen in young children with cystic fibrosis.

Serum immunoreactive pancreatic lipase and cationic trypsinogen are elevated in young infants with cystic fibrosis (CF) and may be useful neonatal screening tests for CF. We compared lipase measured by a recently developed ELISA immunoassay with trypsinogen measured by radioimmunoassay in 70 children (ages 0.1 to 9.9 years) with CF who had various degrees of pancreatic dysfunction and in 79 similarly aged children without CF (controls). In the control children, lipase activity increased with advancing age, whereas trypsinogen showed no age-related trend. Lipase and trypsinogen were significantly elevated in the infants with CF who were younger than 1 year, irrespective of pancreatic function (trypsinogen, P less than 0.001; lipase, P less than 0.05). Sensitivities in detecting CF were 76% and 90% for lipase and trypsinogen, respectively. After the first year of life, lipase and trypsinogen values declined toward normal, the rate of decline of lipase being greater than that of trypsinogen; 67% of lipase values were within or below the normal range by 3 years, whereas 67% of trypsinogen values continued to be elevated. We conclude that trypsinogen is an excellent screening test for CF in young infants regardless of pancreatic function, and that the addition of a serum pancreatic lipase determination does not improve the accuracy of trypsinogen as a screening test for cystic fibrosis.

Age Factors↗
PubMed1995

Long-term effects of L-thyroxine therapy for congenital hypothyroidism.

OBJECTIVE: To study the effects of initial and concurrent dose levels of L-thyroxine on ability and behavior in children with congenital hypothyroidism. METHODS: An existing database, involving a large cohort of children with congenital hypothyroidism detected by neonatal screening, was analyzed retrospectively. There were 94 children: 89 were assessed at age 7 years for intelligence and selective cognitive abilities, and 87 at age 8 years for behavior, achievement, and selective abilities. RESULTS: Subjects were stratified by median split into low and high starting dose groups. The high-dose group performed better on indexes of intelligence, verbal ability, and memory but had more behavior problems reflecting increased anxiety, social withdrawal, and poorer concentration. The dose of L-thyroxine at age 8 years was negatively correlated with memory task performance. CONCLUSION: A higher starting dose of L-thyroxine is beneficial for subsequent intellectual outcome in children with congenital hypothyroidism but may be associated with internalizing behavior problems.

Child↗
PubMed1997

Septicemia caused by Salmonella infection: an overlooked complication of sickle cell disease.

OBJECTIVES: To describe the characteristics of salmonella infections in sickle cell disease and to compare the features of osteomyelitis and those with bacteremia/septicemia without obvious bone changes. To search for risk factors for osteomyelitis, and to draw attention to the frequency and significance of salmonella bacteremia/septicemia. STUDY DESIGN: A retrospective review of all salmonella isolations from the blood, pus, or aspirates during a 22-year period. SETTING: The sickle cell clinic at the University Hospital of the West Indies, Kingston, Jamaica. SUBJECTS: Patients with all genotypes of sickle cell disease. Incidence data and the frequency of associated cholelithiasis were derived from the cohort study based on follow-up of all children detected by neonatal screening. MAIN OUTCOME MEASURES: Osteomyelitis and bacteremia/septicemia. RESULTS: Of 55 patients with salmonella infections, 25 initially had osteomyelitis and 27 had bacteremia/septicemia. Three of the first group later had bacteremias for a total of 30 episodes of bacteremia/septicemia, and 4 of the second group later had osteomyelitis for a total of 32 episodes of osteomyelitis. The incidence of salmonella infection was 8.6% by 15 years, and 96% of infections occurred before the age of 10 years. Preceding episodes of avascular necrosis of bone were more frequent (p < 0.006) in patients with osteomyelitis. Patients with osteomyelitis were not more prone to gallstones. High fever (temperature > or = 40 degrees C or 104 degrees F) occurred in 41%, and occasionally marked bone marrow suppression mimicked the aplastic crisis. Twenty Salmonella serotypes were isolated; Salmonella enteritidis accounted for 36% of infections, but no serotype difference occurred between those with osteomyelitis and those with bacteremia/septicemia. There were no deaths in the 32 patients with osteomyelitis, but 7 (23%) of 30 patients with septicemia died. CONCLUSIONS: Anti-salmonella prophylaxis requires assessment in the management of bone necrosis. Anti-salmonella agents may be indicated in undiagnosed septic conditions in sickle cell disease pending culture results.

Adolescent↗
PubMed1999

The long-term prognosis of congenital portosystemic venous shunt.

Congenital portosystemic venous shunt (PSVS), considered to be a rare disease, can lead to hepatic encephalopathy (HE). With improvements in diagnostic imaging techniques, the number of infants and children with documented PSVS has increased. The natural course of the disease and indications for surgical closure of the shunt vessel have not been well defined. We reviewed 51 cases of congenital PSVS in Japan; 34 patients had an intrahepatic PSVS, and 17 had an extrahepatic PSVS. There were 12 patients with HE at the time of diagnosis. The frequency of HE increased in subjects over 60 years of age. Children with HE had a shunt ratio exceeding 60%. When the shunt ratio was less than 30%, HE did not occur. Twenty of 28 patients under the age of 15 years had hypergalactosemia at the time of neonatal screening. Part of the congenital intrahepatic PSVS spontaneously closed. Surgical closure of a PSVS may be an approach expected to prevent HE when the shunt ratio exceeds 60%.

Adolescent↗
PubMed1999

Diagnosis of congenital toxoplasmosis in the neonatal period: A multicenter evaluation.

OBJECTIVE: To evaluate different laboratory tests used to diagnose congenital toxoplasmosis in the neonatal period. STUDY DESIGN: A retrospective multicenter study of 294 pregnant women who experienced seroconversion for Toxoplasma gondii and subsequently delivered live-born infants. Fetal infection was assessed via specific IgM and IgA antibodies (cord and neonatal blood) and detection of T gondii in placenta and cord blood by mouse inoculation. RESULTS: Ninety-three (32%) of the 294 infants were congenitally infected. The sensitivity of IgA in cord blood and in neonatal blood was 64% and 66%; the sensitivity of IgM was 41% and 42%, respectively. Mouse inoculation of the placenta and cord blood had sensitivities of 45% and 16%. Positive results of the serologic tests in congenitally infected children correlated significantly with the gestational age at the time of maternal infection but was not significantly influenced by the administration of specific antiparasitic treatment during pregnancy. CONCLUSION: Specific T gondii IgA antibody is a more sensitive test than IgM for detecting congenital toxoplasmosis in the neonatal period. The overall specificity is better for serologic tests performed on neonatal blood than for those on cord blood. Neonatal screening with IgM or IgA antibodies will not detect the majority of children with congenital toxoplasmosis when the maternal infection occurred before the 20th week of pregnancy.

Anti-Bacterial Agents↗
PubMed1992

Management of patients with sickle cell disease.

The ever-increasing body of information regarding the molecular pathogenesis of sickle cell disease has raised expectations that a specific and effective therapy could be devised to inhibit polymerization of hemoglobin S. Despite an intense international research effort, this goal has not yet been realized. Supportive care continues to be the mainstay in the management of patients with sickle cell anemia. Empiric measures were used in early attempts to treat sickle cell anemia. Herrick reported gratifying improvement after "rest, nourishing food, the administration of iodide, arsenic, thymol and the application of boric ointment to leg ulcers." Many of these suggestions are similar to those of today. Several factors have significantly improved the prognosis of patients with this disease. Improved medical care, genetic counseling, and universal neonatal screening have directly resulted in improved outcome. Molecular biologic techniques have allowed us to approach this disease in a pathophysiologic way. Now we can envision antenatal diagnosis with the use of molecular probes and treatment by gene amplification. Still, however, the most important and challenging link in the chain between the biology of the disease and the clinical sequelae is an astute and interested physician who must remain objective at all times.

Anemia, Sickle Cell↗
PubMed1991

Thyroid disease and pregnancy.

Thyroid disease is common in younger women and may be a factor in reproductive dysfunction. This probably only applies to severe cases of hyper- or hypothyroidism. Once adequately treated, neither of these disorders significantly impacts on fertility. The key is to recognize and to treat thyroid disorders in the reproductive-age woman before conception. Thyroxine therapy and even antithyroid drug therapy should be continued during pregnancy as necessary. Pregnancy is a euthyroid state that is normally maintained by complex changes in thyroid physiology. The fetal and neonatal hypothalamic-pituitary-thyroid system develops independently, but it may be influenced by thyroid disease in the mother. Early pregnancy is characterized by an increase in maternal T4 secretion stimulated by hCG and an increase in TBG, resulting in the elevated total serum T4 in pregnancy. The debate continues as to whether maternal T4 is important in early or late fetal brain development. If so, the physiologic changes in thyroid hormone secretion and transport in early pregnancy would help to ensure that a sufficient amount of thyroid hormone was available. There is new evidence in human subjects that substantial maternal T4 can cross the placenta during pregnancy, and this may be particularly important when fetal thyroid function is compromised as a result of congenital hypothyroidism. Maternal and fetal/neonatal outcomes in pregnancy are adversely affected if severe hypothyroidism is undiagnosed or inadequately treated. Thyroid function tests should be obtained during gestation in women taking T4 and appropriate dose adjustments should be made for TSH levels outside a normal range. The TSH-receptor blocking antibodies from the mother are a recognized cause of congenital hypothyroidism in the fetus and neonate that can be permanent or transient. If neonatal hypothyroidism is detected through neonatal screening programs, and prompt and adequate T4 replacement therapy is instituted as soon as possible following delivery, subsequent growth and development are usually normal. Paradoxically, pregnancy often has a favorable effect on the course of maternal Hashimoto's disease, although there is the risk of relapse postpartum. Pathophysiologic conditions of hCG secretion such as gestational trophoblastic disease and hyperemesis gravidarum may present as thyrotoxicosis in pregnancy, but the main cause of this syndrome is Graves' disease. The mainstay of treatment is antithyroid drugs and either propylthiouracil or methimazole may be used safely. Subtotal thyroidectomy, after medical control, is the alternative treatment, but radioiodine ablation is contraindicated.(ABSTRACT TRUNCATED AT 400 WORDS)

Female↗
PubMed1999

The role of the pediatrician in hearing loss. From detection to connection.

The advocacy by pediatricians is imperative if early hearing detection and intervention (EHDI) programs are to be effective, efficient, and successful over the long term. Some pediatricians remain unfamiliar with the rationale for universal screening of all newborns prior to hospital discharge. Pediatricians' questions regarding universal screening are data- and quality-driven. Discussion of the components of the EHDI program, answers to pediatricians' most frequently asked questions, supported by data, and the quality indicators used to monitor EHDI programs in Texas are provided.

Child↗
PubMed2000

Determinants of speech perception in children after cochlear implantation.

BACKGROUND: Cochlear implants provide access to the speech signal in those profoundly deaf children who derive no material benefit from acoustic hearing aids. Speech perception after implantation can vary widely--we have analysed the contribution of several factors. METHODS: We examined 40 children with mean age at implantation of 52 months who were either born deaf or became deaf before 3 years. All patients received the same multichannel implant system and were followed up for 5 years. We used connected discourse tracking (CDT) as the measure of speech perception. The effect of five potential predictors (age at implantation, number of inserted electrodes, origin of deafness, mode of communication, and socioeconomic group) on speech perception was analysed. FINDINGS: The mean number of words per minute perceived increased from 0 before implantation to 44.8 (SD 24.3) 5 years after implantation. Repeated-measures ANOVA showed that children significantly progressed over time (p=0.001). Age at implantation was a significant covariate (p=0.01) and mode of communication was a significant between-individuals factor (p=0.04). INTERPRETATION: Young age at intervention and oral communication mode are the most important known determinants of later speech perception in young children after cochlear implantation. Early identification of candidate children necessitates implementation of universal neonatal screening programmes for hearing impairment.

Child, Preschool↗
PubMed2000

Pituitary-thyroid feedback hypersensitivity as a novel cause of hypothyroidism in children.

Recognition and treatment of childhood hypothyroidism is essential to prevent serious developmental abnormalities, and neonatal screening based on detection of raised thyrotropin concentrations is routine. We investigated an adolescent who had developmental retardation because of an undiagnosed and novel cause of childhood hypothyroidism associated with normal circulating thyrotropin concentrations. Dynamic testing showed a hypersensitive pituitary-thyroid feedback axis with no evidence of other pituitary or hypothalamic disease, and sequence analysis of four candidate causative genes was negative. A high index of suspicion is required to diagnose and treat this disorder to prevent the consequences of long-term hypothyroidism on development.

Adolescent↗
PubMed2003

Effect of ultrasound screening on the rate of first operative procedures for developmental hip dysplasia in Germany.

BACKGROUND: Ultrasound screening for developmental hip dysplasia and early conservative treatment might prevent later hip operations. A national hip ultrasound-screening programme, undertaken during the first 6 weeks of life, was introduced across Germany in 1996 and was continued for 5 years. We assessed the rate of first operation on the hip during this programme. METHODS: A national active surveillance programme of initial operations for developmental hip dysplasia was started in 1997 and continued for 5 years. Screening participation was assessed by a random digit dialing telephone survey. Cases were children aged between 10 weeks and 5 years at first operation, who had had no underlying disease leading to developmental hip dysplasia. Completeness of case ascertainment was validated with a capture-recapture study in a representative subsample. Calculated incidences were compared with previously established rates. FINDINGS: About 90% of all children were screened. 147 cases in the first year, and between 81 and 105 for subsequent years were reported. Treatment included closed reductions 353 (66%), open reductions 61 (11%), and osteotomies 121 (23%). Developmental hip dysplasia was diagnosed by ultrasound before 6 weeks of age in 272 (55%) of cases, 64 (13%) were screened at the recommended time but had normal findings, 70 (14%) had delayed screening, and 89 (18%) were not screened. Capture-recapture estimates suggested that 52% of cases were reported. The corrected incidence for first operation was 0.26 per 1000 livebirths (95% CI 0.22-0.32). INTERPRETATION: Ultrasound screening seems to prevent many, but not all, operations for developmental hip dysplasia. Rates of timely screening (ie, before 6 weeks of age) and training of doctors in ultrasound screening need to be improved.

Age Factors↗
PubMedDate not supplied

Congenital adrenal hyperplasia.

Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15,000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific prenatal diagnosis are now possible. Standard hormone replacement fails to achieve normal growth and development for many children with CAH, and adults can experience iatrogenic Cushing's syndrome, hyperandrogenism, infertility, or the development of the metabolic syndrome. This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies.

Adrenal Hyperplasia, Congenital↗