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PubMedDate not supplied

An improved screening system for the early detection of congenital dislocation of the hip.

A screening programme for congenital dislocation of the hip in which physiotherapists examine all neonates is described, together with the results over a 7-year period. All easily reducible dislocated and dislocatable hips are splinted within 2-5 days of birth. Subluxable or "slidey" hips are identified and followed up but not splinted. Risk groups are also identified and followed up. There was a progressive decrease in the number of late diagnosed cases, a result suggesting that even late-presenting acetabular dysplasia can be eliminated by neonatal screening.

England↗

PubMed1987

Four-year follow-up of psychological reactions to false positive screening tests for congenital hypothyroidism.

Thirty-two families were investigated four years after a false alarm in the neonatal screening of their newborns. Sixteen of the families showed signs of persistent anxiety 6-12 months after the screening. Thirteen of them still show anxiety after 4 years. Of the 16 without anxiety at 6-12 months, 6 show signs of anxiety now. This persistent anxiety may be related to the initial psychological trauma of the false positive screening result. Thus, 19 of the 32 families have not completely integrated their experience. Twenty-four children were psychologically evaluated. Eight families refused to have their children examined. Twelve of the children showed disturbed behavior, 10 of these have parents who show unsatisfactory integration. Medical measures have psychological side-effects, which may be interpreted as iatrogenic. However, the effects of an external stress depend on the individual's susceptibility to it and abilities to cope with it and use external support available.

Anxiety↗

PubMed1989

A quality assurance program for human immunodeficiency virus seropositivity screening of dried-blood spot specimens.

Epidemiologic projects have been implemented for using dried-blood spot (DBS) specimens routinely collected on filter paper from neonates as a seroepidemiologic resource to monitor seroprevalence of human immunodeficiency virus (HIV) among childbearing women. To ensure the quality of the data base produced from the national and other epidemiologic surveys, a quality assurance program was developed to interact with all the neonatal screening laboratories. The focus of the Centers for Disease Control's quality assurance program for HIV seropositivity testing of neonatal blood specimens is to maintain a national program to produce, certify, and provide external quality control materials as DBSs on filter paper, to monitor the filter paper matrix, to operate an external performance surveillance program, and to provide other special and consultative services. The dried-blood control and surveillance materials are certified by rigorous testing for accuracy, stability, and homogeneity. Preliminary results from the first performance evaluation of screening laboratories indicated excellent performance.

AIDS Serodiagnosis↗

PubMedDate not supplied

Improving the selective neonatal BCG program.

OBJECTIVES: The aim of the work was to develop and implement an improved selective neonatal Bacille-Calmette-Guerin (BCG) vaccine program in which neonates are systematically assessed, and those identified as at "high risk of being exposed to tuberculosis" are given neonatal BCG. DESIGN: Service models used in other parts of the country were assessed and their limitations and difficulties were carefully considered. Possible service models for local use were then considered. A selective neonatal BCG program involving universal neonatal screening was implemented. SAMPLE: A program was implemented offering BCG to high-risk neonates. RESULTS: As has been the case with other health trusts, developing a new neonatal BCG service met with obstacles and hurdles. Means of overcoming some of the difficulties are presented. Preliminary findings regarding the service model, including neonatal BCG uptake rates, were positive. CONCLUSION: A successful neonatal BCG program was implemented.

BCG Vaccine↗

PubMed1992

Radiographic screening at four months of infants at risk for congenital hip dislocation.

We report on a radiographic screening programme at four months of age for infants who were clinically normal at neonatal examination but were considered to be 'at risk' for congenital dislocation of the hip because of their family history, breech presentation, or a persistent click. From a total population of 13,662 live births over a two-year period, 357 (2.6%) infants at risk were identified. Of these 46 had abnormal radiographs (six subluxations, 40 acetabular dysplasia). In 12 infants treatment resulted in a normal hip; 34 required no treatment but were followed up until their radiographs were normal and walking had begun. Of the 311 infants with normal radiographs, 256 (82%) were examined after 15 months of age; none had any detectable abnormality. We suggest that radiography of the hip at four months is a valuable adjunct to neonatal screening for infants at increased risk of congenital dislocation of the hip.

Acetabulum↗

PubMed1994

Screening for congenital dislocation of the hip by physiotherapists. Results of a ten-year study.

We report a prospective study of the feasibility of employing specially trained physiotherapists to screen neonates for congenital dislocation of the hip. During ten years 42,241 babies were screened, using clinical tests; 255 were diagnosed and treated by a Pavlik harness. In the same period 13 children presented late with congenital dislocation of the hip which had not been detected by the screening programme.

Hip Dislocation, Congenital↗

PubMed1988

The University of Florida sickle cell screening program for neonates: design and results.

During the first 18 months of a pilot program for sickle cell screening at the University of Florida College of Medicine, Gainesville, 2,058 black neonates were screened. An incidence of homozygous sickle disease of 0.5 percent was greater than that expected or predicted by carrier frequency (8.3 percent). Fifty percent of all infants with abnormal cord blood electrophoreses were retested. All infants with actual homozygous disease or other clinically significant variants had confirmation of their diagnosis and were channeled for appropriate care. A change of phenotypic diagnosis based on a follow-up sample was made in eight cases. Errors were either interpretational or through contamination of cord blood samples by maternal blood at the time of delivery. Although location of infants for retesting after discharge was made more difficult by the largely rural composition of the target population, certain measures were taken to improve patient retrieval: use of public health personnel; enlistment of the aid of private physicians in the community; and inclusion of information regarding the screening program in the hospital discharge packets of black mothers. It is concluded that screening programs serving rural populations can adequately identify infants with abnormal hemoglobin patterns while educating and caring for families of these infants in a cost-efficient and effective manner.

Anemia, Sickle Cell↗

PubMed2006

Maternal corticosteroids to prevent intrauterine exposure to hyperthermia and inflammation: a randomized, double-blind, placebo-controlled trial.

OBJECTIVE: Intrauterine exposure to hyperthermia at term is associated with adverse neonatal neurologic outcomes. The objective of this study was to determine whether prophylactic maternal corticosteroid treatment prevents fetal exposure to hyperthermia and inflammatory cytokines after epidural analgesia. STUDY DESIGN: A 2-phase, randomized, institutional review board-approved, double-blind, placebo-controlled trial was performed. Term nulliparous women were enrolled at epidural placement. Patients with a temperature of >99.4 degrees F or with diabetes mellitus were excluded. In phase 1, 25 mg methylprednisolone (low dose) or placebo was administered every 8 hours. In phase 2, the treatment dose was increased to 100 mg every 4 hours (high dose). Our primary outcome was a rate of intrapartum fever of >100.4 degrees F. Secondary outcomes were fetal interleukin-6 levels and the rate of neonatal bacteremia. RESULTS: One hundred one patients were assigned randomly to placebo; 50 patients were assigned to the low-dose group, and 49 patients were assigned to the high-dose group. Treatment with the high dose resulted in a 90% reduction in maternal fever, compared with placebo and low dose therapy (2.0% vs 21.8% vs. 34.0%, respectively; P < .001). Neonatal sepsis evaluations were reduced significantly in the high-dose group (4.1% vs 17.8% vs 24%, respectively; P = .01), but the rates of asymptomatic bacteremia were increased (9.3% vs 0% vs 2.1%, respectively; P = .005). Median cord blood interleukin-6 levels were reduced with the high-dose steroid treatment, but this result was statistically significant only between the high-dose and placebo groups (24.0 +/- 38.5 vs 32.0 +/- 95.0 pg/mL, respectively; P = .02). CONCLUSION: Prophylaxis with high-dose corticosteroids significantly reduces fetal exposure to hyperthermia and inflammation. However, maternal high-dose corticosteroids increase the rate of neonatal asymptomatic bacteremia. Stress-dose corticosteroid use in labor should trigger consideration of a screening neonatal blood culture.

Adult↗

PubMed1999

[Neonatal transient hypothyroidism].

Neonatal screening for congenital hypothyroidism can detect permanent and transient hypothyroidism. The latter condition is called neonatal transient hypothyroidism. This may result from various causes, but, especially, it should be suspected whenever there is a history of maternal autoimmune thyroid disease, including Hashimoto thyroiditis, Graves disease, hypothyroidism on replacement therapy, or recurrent congenital hypothyroidism of a transient nature in subsequent siblings. Transplacental TSH-receptor antibodies may affect fetal or neonatal thyroid function. Although thyroid dysfunction may be transitory, long-term follow-up is desirable.

Congenital Hypothyroidism↗

PubMedDate not supplied

[A model for clinical diagnosis-treatment of the newborn with an abnormal screening test for hypothyroidism and in children with congenital hypothyroidism].

Congenital hypothyroidism occurs in 1:4000 newborns. Mass screening for congenital hypothyroidism constitutes a major progress in the prevention of mental retardation. The neonatal screening programme in Poland was established and implemented by the National Research Institute of Mother and Child from the middle of the 70. and reorganised in 1997. Recall examinations in the infants, substitute therapy with l-thyroxine and the follow-up of hypothyroid infants and children are presented.

Child↗

PubMed2002

[Ultrasound screening program for neonates and infants in Hungary].

INTRODUCTION: A children's hospital in Budapest (The Madarász Street Children's Hospital) and two children's department of two county hospitals (Toldy Ferenc Hospital, Cegléd and Zala County Hospital, Zalaegerszeg) started a common ultrasound screening programme for children in 1990. OBJECTIVES: This three screening centres agreed which illnesses, pathological states and developmental disorders will be screened. In neonatological departments this screening was carried out usually in the first week of life. In the children's hospital, the majority of measurements was performed between 2 weeks and 3 months of the infants life time. The ratio between this two age group was 43.6 and 56.4%. The authors compared and analysed the results of screenings in neonates and those in infants. Another important objective of the programme was to compare the results of prae- and postnatal screening. METHODS: Examinations were carried out by up-to-date instruments corresponding to the given period. Data for neonates were compared with those for infants and with clinical findings, analysed, stored in computers and yearly evaluated. Screenings were performed by neonatologists, pediatric radiologists or pediatricians with appropriate practice. RESULTS: The three centres examined altogether 51,688 children during their 10-years activity, and found 4758 pathological cases. The majority of pathological cases (3447) was renal and urinary tract disorders, in 1224 cases intracranial occurrences were diagnosed, whereas the remaining cases were mainly tumours or cysts in the liver, spleen or ovarium. CONCLUSION: Numerous pathological changes can be detected by ultrasound screening postnatally, which have great therapeutic significance and are very important for differential diagnostics. By comparing the results for neonates and infants, it can be established that screening in infancy is usually important if no screening was carried out in the neonate age, but control examinations should be performed as well, when it is justified by some physiological or pathological reason. In case of slight deviations, when the first examination cannot provide unambiguous diagnosis, later, repeated examinations can support an accurate diagnosis. Documentation of the results from neonate age and infancy facilitates the correct judgment in later pathological states.

Brain Diseases↗

PubMed1985

Cord blood G-6-PD activity by quantitative enzyme assay and fluorescent spot test in Chinese neonates.

Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a common X-linked recessive disorder among the Chinese population. Neonatal screening for this condition is important and with necessary precaution, enzyme deficient infants are less likely to develop severe haemolysis and subsequent kernicterus. Screening of G-6-PD deficiency by fluorescent spot test on cord blood samples of 1228 Chinese neonates revealed an incidence of 4.4% in males and 0.35% in females. Simultaneous direct enzyme assay confirmed the sensitivity and specificity of the spot test in the identification of male hemizygotes and female homozygotes. However, the spot test was unsatisfactory in detecting heterozygotes. Even quantitative enzyme assay could detect only 70% of the partially deficient subjects.

Clinical Enzyme Tests↗

PubMed1982

Fifteen-year experience with screening for phenylketonuria with an automated fluorometric method.

An automated fluorometric method, rather than the Guthrie test, has been used in North Carolina for neonatal screening for phenylketonuria (PKU). Although there is no testing law, 97% of newborn infants are screened. Twelve children with PkU, not referred for dietary management, were born before the screening program was established, were born elsewhere, or were successfully identified at birth but not referred for treatment. None was missed because of laboratory error or because of the lack of a testing law. Positive skewing was noted among initial blood phenylalanine levels of 49 infants with PKU and severe hyperphenylalaninemia. Log transformations caused the values to be normally distributed and permitted the calculation of tolerance and confidence limits. These provided estimates of the percentage of phenylketonuric infants whose initial blood levels might fall below any given cutoff value.

Age Factors↗

PubMed2005

Adrenoleukodystrophy: new approaches to a neurodegenerative disease.

X-linked adrenoleukodystrophy (X-ALD), which was first described in 1923, was viewed until 1976 as a rare and inexorably fatal neurodegenerative disorder that affected boys. The genetic defect and biochemical abnormalities have now been defined. Ongoing research has resulted in new findings: (1) there is a wide range of phenotypic expression. At least half of patients with X-ALD are adults with somewhat milder manifestations, and women who are carriers may become symptomatic. X-ALD is often misdiagnosed as attention-deficit/hyperactivity disorder in boys and as multiple sclerosis in men and women, and is not an uncommon cause of Addison disease; (2) the incidence of X-ALD, estimated to be 1:17,000 in all ethnic groups, approximates that of phenylketonuria; (3) noninvasive and presymptomatic diagnosis and prenatal diagnosis are available; family screening and genetic counseling are key to disease prevention; and (4) new therapies, applied early, show promise. Neonatal screening is likely to become available, and a wider awareness of X-ALD and its various modes of presentation permit new proactive approaches to this distressing disorder.

Adrenal Cortex Hormones↗

PubMed2006

Clinical inquiries. What are appropriate screening tests for infants and children?

There is adequate evidence for screening neonates for hemoglobinopathies, congenital hypothyroidism, phenylketonuria (strength of recommendation [SOR]: A), and cystic fibrosis (SOR: B). Vision screening should be done for those younger than age 5 years (SOR: B). High-risk children should be tested for tuberculosis (TB) (SOR: B) and lead toxicity (SOR: B). Few data exist to guide frequency and timing of these screening tests, so the following timing recommendations are based on consensus opinion (SOR: C): test for visual acuity yearly starting at age 3 years; test for TB and lead once between the ages of 9 and 12 months, and repeat for high risk or exposure.

Child, Preschool↗

PubMed1997

Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period.

We present two siblings with vitamin B6-nonresponsive homocystinuria due to a deficiency of cystathionine beta-synthase who had different levels of methionine in the blood during the neonatal period, even though they had the same genetic defect. One of them was missed in the screening of newborns for homocystinuria. Special care should be taken in screening neonates for homocystinuria using the blood level of methionine.

Child↗

PubMed2006

Analysis of physical and mental development of children with aplasia, hypoplasia and ectopy of the thyroid gland.

OBJECTIVE: Evaluation of clinical and biochemical differences between various forms of thyroid dysgenesia in children. METHODS: The study involved 102 children at the age between 4.8 and 14.2 years who were born with congenital hypothyroidism (CH), as diagnosed by neonatal screening examinations. In all the children diagnosis was settled and the levothyroxine (L-T4) administration was started by the 19th day of life. Out of the examined children, 79 were selected with following three forms of developmental thyroid disorders: Group I--athyroidism (thyroid aplasia or agenesis), Group II--thyroid hypoplasia, Group III--thyroid ectopy. On the basis of neonatal TSH (nTSH) levels obtained by screening and serum TSH, FT4 and Tg concentrations, the severity of hypothyroidism was determined at the time of diagnosis. Physical and mental development of the children was evaluated on the basis of growth and bone age indices and Wechsler's scale, respectively. RESULTS: Developmental disorders were diagnosed in 79 cases (77.4% CH) which included 45 cases (44.1%) of athyroidism, 31 cases (30.4%) of thyroid hypoplasia and 3 cases (2.9%) of thyroid ectopy. The physical and mental development in the studied groups was evaluated as normal. CONCLUSIONS: In the group of children with athyroidism, significantly lower growth indices and IQ values were found in comparison with respective values observed in the other study groups. However, the indices of physical and mental development in all the studied groups were within the normal values for children population. An early diagnosis and early administration of hormonal replacement therapy by L-T4 ensure normal development of children with CH, regardless of underlying causes and associated with them severity of congenital hypothyroidism.

Adolescent↗

PubMed1990

Negative screening for sickle cell diseases with a monoclonal immunoassay on newborn blood eluted from filter paper.

The most common method of blood sample collection for neonatal screening programs for inherited diseases-blood spots on filter paper--is poorly suited for screening of sickle cell diseases by conventional assays because of the denaturing effects of this medium on hemoglobins that affect their electrophoretic identifications. The monoclonal antibody beta (6)-1 specifically recognizes the hemoglobin A beta-chain residue 6 (glutamic acid), that is, the normal counterpart of hemoglobins S and C, and this recognition is unaffected by changes in hemoglobins induced by filter paper storage. The beta (6)-1 immunoassay analysis of 67 prescreened samples extracted from filter paper permitted unambiguous group identification, by virtue of nonreactivity, of the pathologic sickle cell disease phenotypes SS (sickle cell anemia) and SC (sickle cell-hemoglobin C disease), along with the homozygous hemoglobin C phenotype (hemoglobin CC disease). Other phenotypes identified by beta (6)-1 nonreactivity would include S-beta(0) thalassemia, C-beta (0) thalassemia, and beta(0) thalassemia (Cooley's anemia). As systems for collecting newborn blood specimens on filter paper and their transmittal to centralized laboratories are already established in many states, this assay for sickle cell and hemoglobin C diseases could rapidly be combined with other mass screening programs for inborn errors of metabolism.

Adult↗