Neonatal screening

Galactosemia is detected by newborn screening in New South Wales and managed by the metabolic team at the Children's Hospital at Westmead. Infants with the Duarte variant are not treated. Management is based on the Handbook for Galactosemia prepared in 1998. This handbook provides information for the family on the dietary management, inheritance and ovarian function. The major dietary sources of galactose are milk and milk products. Breastfeeding must be ceased and replaced with a soy formula. Once solid foods are commenced certain foods should be avoided. Other foods, which may contain some free galactose are recommended in limited quantities only. There is no restriction on other fruits and vegetables. An ongoing issue with dietary management is adequate nutrient intake, particularly of calcium. Intake of milk substitutes and calcium supplements is often inadequate.

Objective: To evaluate the incidence of variant hemoglobins of newborn samples from the Neonatal Screening Center in the state of Mato Grosso do Sul, Brazil, and to analyze the distribution and spatial autocorrelation of newborns with sickle cell trait. Methods: Samples from 35,858 newborns screened by the Neonatal Screening Center. The samples with inconclusive diagnosis were submitted to electrophoretic, chromatographic, cytological and molecular analyses. The spatial distribution analysis of newborns with sickle cell trait was performed by spatial autocorrelation. Results: A total of 919 newborns showed an abnormal hemoglobin profile; in that, ten genotypes had significant clinical impacts identified. Among the asymptomatic newborns, the sickle cell trait was the most frequent (incidence of 1.885 cases/100 newborns). The highest incidence rates were registered in the municipalities of Terenos, Figueirão, Corguinho and Selvíria. There was positive spatial autocorrelation between the proportion of declared individuals of black race/ color and the incidence of newborns with sickle cell trait. Conclusion: The early diagnosis by neonatal screening and laboratory tests was very important to identify abnormal hemoglobin profiles and guide the spatial autocorrelation analysis of sickle cell trait newborns in Mato Grosso do Sul, serving as a support to anticipate health measures aimed to discuss efficient therapeutic behaviors and effective planning of municipalities with the greatest need for care, monitoring and orientations for affected families.

During the last 20 years, the number of infants evaluated for permanent hearing loss at birth has increased dramatically with universal newborn hearing screening and intervention (UNHSI) programs operating in all US states and many territories. One of the most urgent challenges of UNHSI programs involves loss to follow-up among families whose infants screen positive for hearing loss. We surveyed 55 state and territorial UNHSI programs and conducted site visits with 8 state programs to evaluate progress in reaching program goals and to identify barriers to successful follow-up. We conclude that programs have made great strides in screening infants for hearing loss, but barriers to linking families of infants who do not pass the screening to further follow-up remain. We identified 4 areas in which there were barriers to follow-up (lack of service-system capacity, lack of provider knowledge, challenges to families in obtaining services, and information gaps), as well as successful stra...

To analyse various parameters of sepsis screen singly and in combination to formulate a guideline for the diagnosis of neonatal sepsis. A cross-sectional analytical study. The neonatal intensive care unit at the Paediatric Department, Military Hospital, Rawalpindi, over a period of seven months from 1st June to 31st December 2003. One hundred neonates having clinical features of sepsis and 100 normal asymptomatic neonates were evaluated with a set of investigations. C-reactive protein (CRP), erythrocyte sedimentation rate, total leukocyte count, absolute neutrophil count (ANC), immature neutrophils to total neutrophil count ratio (I/T ratio), thrombocytopenia, degenerative changes in the neutrophils and gastric aspirate cytology (GAC) for polymorphs were used for diagnosis of neonatal sepsis. CRP was positive in 24/28 (85.7%) of group-A (proven sepsis) and 58/72 (80.5%) of group-B (probable sepsis) and had a specificity of 95%. ANC was the second most sensitive test having sensitivi...

On behalf of the Global Pediatric Endocrinology and Diabetes group, the authors provide a perspective on the rights of a child as enshrined in the United Nations Convention on the Rights of the Child (1989) concerning the care of pediatric endocrine disorders and diabetes mellitus, throughout the world, with particular reference to care in resource-constrained settings. In this article, we define the spectrum of health care needs of the child with an endocrine disorder and how they may be addressed, in terms of education, research, and development of sustainable programs for improved health outcomes. We emphasize the responsibilities of medical communities, the pharmaceutical industry, and relevant governments in promoting and supporting such concepts.

The purpose of this study was to identify what stakeholders considered best practices for parent-provider communication regarding newborn hearing screening and diagnosis. We used consensus data to develop educational materials for parents. We conducted 29 focus groups and 23 individual interviews between October 2003 and May 2004. Participants included (1) English- and Spanish-speaking parents of infants <18 months of age who had experience with hospital-based newborn hearing screening; (2) parents of children with hearing loss; (3) primary care providers who provide prenatal care or care for newborns; and (4) audiologists, audiology technicians, and hospital nurses. Communication to parents about hospital-based newborn hearing screening was limited. Most parents first learned about the screening in the hospital, but all stakeholders thought a more opportune time for education was before the birth. For parents of infants who did not pass the newborn hearing screening, stakeholder...

To analyse various parameters of sepsis screen singly and in combination to formulate a guideline for the diagnosis of neonatal sepsis. A cross-sectional analytical study. The neonatal intensive care unit at the Paediatric Department, Military Hospital, Rawalpindi, over a period of seven months from 1st June to 31st December 2003. One hundred neonates having clinical features of sepsis and 100 normal asymptomatic neonates were evaluated with a set of investigations. C-reactive protein (CRP), erythrocyte sedimentation rate, total leukocyte count, absolute neutrophil count (ANC), immature neutrophils to total neutrophil count ratio (I/T ratio), thrombocytopenia, degenerative changes in the neutrophils and gastric aspirate cytology (GAC) for polymorphs were used for diagnosis of neonatal sepsis. CRP was positive in 24/28 (85.7%) of group-A (proven sepsis) and 58/72 (80.5%) of group-B (probable sepsis) and had a specificity of 95%. ANC was the second most sensitive test having sensitivi...

Hearing loss in children causes a deficit in early perceptive and language skills. The objective of this study was to evaluate early receptive and expressive language outcomes in children with hearing loss, identified by hearing screening, compared to the time of diagnosis. We studied 18 severely hearing impaired children who were divided into two groups according to the time of diagnosis. Evaluation of communicative language ability was carried out at 18 month of age using the "MacArthur Child Development Inventory" questionnaire, while evaluation of acoustic-perceptual abilities was assessed with the Genovese-Arslan protocol every three months following diagnosis. The linguistic communicative and acoustic-perceptual outcomes of hearing impaired children diagnosed before 6 months of age followed those expected for normally hearing children, with a trend of temporal progression of skills that were faster than those of children diagnosed after 6 months of age.

Purpose To gain an understanding of practice patterns for infant diagnostic hearing services at pediatric audiology facilities. Method The authors used a cross-sectional survey design. From August to November of 2009, surveys were mailed to 1,091 facilities in 28 states and the District of Columbia. One survey was completed per facility, and responses were anonymous. Results The return rate was 33% (356 surveys). The results revealed that the comprehensiveness of the test batteries used varied among facilities. Over half of the respondents, 146 (55%), reported using a limited test battery, 94 facilities reported using a comprehensive test battery but lacked at least 1 component recommended by the Joint Committee on Infant Hearing, and 25 facilities reported using a test battery that met Joint Committee on Infant Hearing recommendations. The wait time for an appointment varied between facilities (range = 3 days–5 months) and was affected by the test condition (i.e., natural sleep, se...

Purpose To gain an understanding of practice patterns for infant diagnostic hearing services at pediatric audiology facilities. Method The authors used a cross-sectional survey design. From August to November of 2009, surveys were mailed to 1,091 facilities in 28 states and the District of Columbia. One survey was completed per facility, and responses were anonymous. Results The return rate was 33% (356 surveys). The results revealed that the comprehensiveness of the test batteries used varied among facilities. Over half of the respondents, 146 (55%), reported using a limited test battery, 94 facilities reported using a comprehensive test battery but lacked at least 1 component recommended by the Joint Committee on Infant Hearing, and 25 facilities reported using a test battery that met Joint Committee on Infant Hearing recommendations. The wait time for an appointment varied between facilities (range = 3 days–5 months) and was affected by the test condition (i.e., natural sleep, se...

Background: Lysosomal storage disorders (LSDs) comprise more than 40 genetic diseases that result in the accumulation of products that would normally be degraded by lysosomal enzymes. A tandem mass spectrometry (MS/MS)-based method is available for newborn screening for 5 LSDs, and many laboratories are initiating pilot studies to evaluate the incorporation of this method into their screening panels. We developed and evaluated dried blood spot (DBS) QC materials for LSDs and used the MS/MS method to investigate their suitability for LSD QC monitoring. Methods: We incubated 3.2-mm punches from DBS controls for 20–24 h with assay cocktails containing substrate and internal standard. Using MS/MS, we quantified the resulting product and internal standard. Samples were run in triplicate for 3 consecutive days, and results were reported as product-to-internal standard ratios and enzyme activity units (μmol/L/h). Results: Enzyme activity interday imprecision (CV) for the high, medium, and ...

Sickle cell disease (SCD) is a significant problem in the Caribbean, where many individuals have African and Asian forebears. However, reliable prevalence data and specific health care programs for SCD are often missing in this region. Closer collaboration between Caribbean territories initiated in 2006 to set up strategies to promote better equity in the health care system for SCD patients led to the formation of CAREST: the Caribbean Network of Researchers on Sickle Cell Disease and Thalassemia. We present the effectiveness of collaborations established by CAREST to promote SCD newborn screening programs and early childhood care, to facilitate health worker training and approaches for prevention and treatment of SCD complications, and to carry out inter-Caribbean research studies. (Am J Public Health. Published online ahead of print March 17, 2016; e1-e3. doi:10.2105/AJPH.2016.303078).

Sickle cell disease (SCD) is a life-threatening, autosomal recessive blood disorder prevalent in sub-Saharan Africa. We identified the prevalence of sickle cell trait (SCT) among pregnant women and their male partners in Enugu State, Nigeria, and determined the accuracy of self-reported sickle cell status and its reliability for identifying high-risk newborns for targeted screening. We conducted a nested cohort study of expectant parents enrolled in the Healthy Beginning Initiative (HBI). The HBI is a cluster-randomized trial of a congregation-based approach designed to increase HIV testing. Participants completed a survey regarding self-awareness of their sickle cell genotype and consented to genotype screening by cellulose acetate electrophoresis. SCT prevalence (HbAS) was 22% (746/3,371). Only 50% of participants provided an accurate self-report. Self-report accuracy was significantly different (p < 0.0001) between individuals who reported having SCT or SCD (61% accuracy) vers...

The purpose of this study is to present a case report of a child with hyponatremic dehydration diagnosed after CF and to review the cases of 13 patients with CF who had the same initial presentation in our hospital. This report reviewed the clinical records of children diagnosed with CF to ascertain the prevalence of metabolic alkalosis with electrolyte depletion as the presentation of CF. It also used sweat tests to diagnose a child with CF. The laboratory tests of a 12-month-old girl presented 3 times to the ;pediatric emergency department with vomiting and weight loss showed hyponatremia, hypochloremia, and metabolic alkalosis. The patient was subsequently diagnosed with CF by means of 2 positive sweat tests. Meanwhile, the review of the clinical records of all children diagnosed with CF from 1985 to 2004 (N = 77) showed that the prevalence of metabolic alkalosis with electrolyte depletion as the presentation of CF was 16.8%. The age of the infants ranged from 3 to 14 months. All episodes took place during summer. There are not many causes of metabolic alkalosis with hyponatremic dehydration, and one of them is CF. This report emphasizes sodium depletion as a common sign of CF presentation. This is most important in countries where the neonatal screening test for CF is not available because the disease may be asymptomatic or oligosymptomatic for several months or even years. Cystic fibrosis should be considered in differential diagnosis of any child presenting with unexplained hyponatremic dehydration.

Neonatal hyperbilirubinemia has traditionally been screened by either total serum bilirubin or transcutaneous bilirubin. Whole blood bilirubin (TwB) by the GEM Premier 4000® blood gas analyzer (GEM) is a relatively new technology and it provides fast bilirubin results with a small sample volume and can measure co-oximetry and other analytes. Our clinical study was to evaluate the reliability of TwB measured by the GEM and identify analytical and clinical factors that may contribute to possible bias. 440 consecutive healthy newborn samples that had plasma bilirubin ordered for neonatal hyperbilirubinemia screening were included. TwB was first measured using the GEM, after which the remainder of the blood was spun and plasma neonatal bilirubin was measured using the VITROS 5600® (VITROS). 62 samples (14%) were excluded from analysis due to failure in obtaining GEM results. Passing-Bablok regression suggested that the GEM results were negatively biased at low concentrations of bilirubi...