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At least 19 recordsLinked to original sources
PubMed1991

Laboratory quality control issues related to screening newborns for cystic fibrosis using immunoreactive trypsin.

We have incorporated the IRT assay for CF to our newborn screening program, relying heavily on electronic data processing to optimize the test results in order to provide the most reliable data possible from the specimen at hand. We have established an internal cut-off of 100 ng/mL and an external referral of 180 ng/mL; this virtually eliminates the possibility that analytical imprecision will result in misidentifying a positive patient specimen. The relationship between IRT levels and various mutant forms of CF are not well established, and it is possible that various forms of CF may exhibit different levels of IRT in the first few days of life. We believe that IRT screening for CF could be a useful procedure for early identification of potential CF. However, by comparison with other newborn screening tests, its sensitivity, 90%, presents a concern. The expectation for PKU, hypothyroidism, MSUD, and galactosemia screening is 100% sensitivity. A false-negative usually results in litigation. The use of IRT in routine newborn screening will require considerable education of the general public and physicians receiving test results. Our program, along with many others, is anxiously watching the developments in the area of gene testing. We feel the relatively inexpensive IRT, used for mass screening can be successfully coupled with the more definitive (and expensive) gene test on a selected population to identify CF at the earliest possible age in a more effective manner. It is possible that in the near future gene probe tests will be applied in a cost effective manner to the initial filter paper specimen.

Cystic Fibrosis↗
PubMedDate not supplied

Introduction: new technologies for genetic and newborn screening.

Screening newborn infants for inherited disorders has been effective in preventing mental retardation, growth failure, and death from several metabolic disorders for more than two decades. Technical advances have provided more screening tools for both genetic and nongenetic conditions, and in the coming decades these techniques will be used not only to screen newborns but to assess genetic risks in entire populations. The financial, legal, and ethical issues which these activities raise must influence the development of public policies in order to reap the benefits promised. The conference published here was designed to address these issues for health care practitioners, health policy planners, and public health professionals.

Female↗
PubMed1990

Newborn screening for sickle cell disease. When is an infant 'lost to follow-up'?

Success of programs to screen newborns for sickle cell disease depends on timely follow-up. Education regarding fever and splenic palpation, and initiation of prophylactic penicillin therapy, will reduce morbidity and mortality and should occur prior to 4 months of age. However, contacting parents to permit implementation of care may be difficult, particularly in large urban populations; only nine (36%) of 25 infants recently identified as having sickle cell disease arrived at our institution for initial appointments. Medical providers must be aware of medical and legal obligations related to follow-up of newborns with sickle cell disease to prevent untoward events in "missed cases."

Follow-Up Studies↗
PubMed2025

The acceptability of blood spot screening and genome sequencing in newborn screening: a systematic review examining evidence and frameworks.

BACKGROUND: Population-wide newborn blood spot screening programmes are a successful public health intervention used to detect whether the baby is at risk of certain rare conditions, with the aim of earlier diagnosis and provision of optimal care and treatment. Evaluating candidate conditions to include in newborn blood spot and genetic sequencing raises questions regarding acceptability to parents/carers. METHODS: In the context of the possible expansion of the newborn blood spot screening programme in the United Kingdom, this review aimed to systematically review research on the acceptability to parents of newborn blood spot screening and genetic sequencing. A protocol was developed prior to commencing the review and was registered on the PROSPERO database. A team of researchers carried out the review, with checking at all stages carried out by at least two individuals. We included research published after 2013 with participants who were pregnant or a recent parent of a newborn and were resident in a high-income country. We included quantitative and qualitative studies that investigated the acceptability to parents/carers of newborn blood spot screening or genetic sequencing. Quantitative studies were narratively synthesised, and theories/frameworks identified and evaluated. Qualitative studies were analysed for recurring themes, and a meta-synthesis was carried out to compare and contrast these two types of data. We quality appraised included articles using tools appropriate for their study design. RESULTS: Searches were carried out in September to November 2023 and screening identified 25 relevant research articles. Just over half were from North America, with four existing reviews and nine qualitative studies. Domains of acceptability described in the literature were: support for screening; level of anxiety, information and knowledge; consent; views of the procedure; and support after screening. The research indicated consensus support for blood spot screening, and for expanding to some other conditions, although some parental anxiety was reported. Parents/carers mostly perceived that they had received sufficient information, but the timing of this could be improved. While parents indicated interest in genomic screening, studies highlighted the need for clearer consent procedures and greater support for parents following genomic screening than for blood spot screening. Only three included studies reported using any kind of theoretical framework. DISCUSSION: Most parents/carers found newborn blood spot screening programmes to be acceptable and favoured their large-scale implementation. A minority of parents/carers expressed concerns regarding the acceptability of processes underpinning newborn blood spot screening, such as consent, the timing of receiving information and support available after testing. More research is needed regarding the acceptability of newborn genomic sequencing screening programmes, which are less established compared with newborn blood spot screening programmes. LIMITATIONS: The over-representation of studies conducted in the United States has implications for the applicability of findings to other countries where testing is not typically mandatory and health systems differ considerably. Most studies were of cross-sectional design and there was limited representation of people from lower incomes and non-white ethnicity. While the inclusion of studies only in populations of future or very recent parents provided coherence to the findings, unclear reporting of participants may have resulted in under- or overinclusion of some studies. FUNDING: This article presents independent research funded by the National Institute for Health and Care Research (NIHR) Health Technology Assessment programme as award number NIHR159927.

ACCEPTABILITY↗
PubMed1992

Newborn screening: the miracle and the challenge.

Modern newborn screening programs are coordinated multi-disorder systems for prevention of infant death and disability, which include statewide infant screening, rapid retrieval, early intervention, and long-term follow-up. Screening programs are dynamic, with new tests being evaluated and added. Because nurses are actively involved in all phases of newborn screening, they must be knowledgeable about each disorder and changing screening requirements. This article reviews basic defects, genetics, incidence, symptoms, treatment, and specific newborn screening requirements for the eight disorders most widely incorporated into statewide newborn screening programs, and discusses practical nursing interventions.

Anemia, Sickle Cell↗
PubMed1992

The practitioner's role in newborn screening.

In this article the practitioner's role in newborn screening were summarized and guidelines to assist in their execution were provided. The authors summarized the tests that are currently used in North America and provided a short discussion of current and future issues in this area. Newborn screening is no longer a simple procedure. The lack of universal standards, tests, or legislation, and the increasingly complex choices and technologies available for newborn screening make uniform recommendations for practitioners difficult. It has become necessary to understand the basis and rationale of the tests as they relate to individual infants in order to provide optimal care.

Follow-Up Studies↗
PubMed1991

Comparison of newborn screening records and birth certificates to estimate bias in newborn HIV serosurveys.

Implicit in the New York State Newborn HIV Seroprevalence Study is the assumption that newborns of all New York State residents are tested for human immunodeficiency virus (HIV) antibodies. We examined this assumption by describing that part of the 1988 New York newborn population not tested in the HIV seroprevalence study and assessing any bias contributed by this group. Of the expected total HIV specimens 1.5 percent were never received by the Newborn Screening Program, 0.5 percent were invalid specimens for which no repeat specimen could be obtained, and 1.7 percent were unsuitable or of insufficient quantity to be tested for HIV antibody. Thus 96.3 percent of all 1988 New York newborns were tested for HIV antibody. Black infants from New York City and low-birthweight infants were represented disproportionately among those not tested. Assignment of all untested newborn to HIV-positive status increased the seroprevalence rate 17 percent (0.64 percent to 0.75 percent).

Bias↗
PubMed1992

RNA analysis from newborn screening dried blood specimens.

We have previously demonstrated that DNA can be extracted from the dried blood specimen of the type used for newborn screening. The technique presented here allows us to extract RNA from newborn screening specimens for cDNA synthesis by reverse transcriptase and amplification by the polymerase chain reaction (PCR). Products of the PCR reaction are then analyzed by restriction enzymes. This method successfully distinguishes beta A and beta S transcripts in unaffected (AA), carrier (AS), and affected (SS) individuals. The value of this approach for identification of a compound heterozygous patient with S/beta-thalassemia, using the original newborn screening specimen, is also demonstrated. This work shows that mRNA is stable in dried blood specimens and that analysis of the mRNA phenotype can be a useful adjunct in the application of molecular genetic technology to newborn screening.

Anemia, Sickle Cell↗
PubMed1992

Newborn screening for sickle cell and other hemoglobinopathies: a Canadian pilot study.

We estimated incidence of HbS disease in Quebec. It is approximately 9 cases per 100,000 births (equivalent to the incidence of the hyperphenylalanemias). Accordingly, we performed a voluntary pilot study in 9 self-identified ethnic groups; 3528 families were counselled about the relevance of newborn screening for hemoglobinopathies; and 2779 cord blood samples were collected (participation rate, 78.7%) and analyzed for Hemoglobin S and other hemoglobin variants by cellulose acetate electrophoresis. There were 95 (3.42%) positive tests on the initial (cord blood) samples, of which only 40 could be confirmed because of low participation in follow-up. We identified 8 false-positive tests; 7 had been classified initially as alpha-thalassemia trait and one as HbC heterozygosity on the first test. The relative frequency of hemoglobinopathy genes (confirmed) was: 52.5% HbS; 22.5% alpha-thalassemia; 22.5% other mutation; all but one patient with sickle cell disease were heterozygotes; the majority (71%) of HbS genes were accounted for by the 7% of screened newborns who were Black; a further 24% of the HbS genes were accounted for by 7% with Central American ancestry. Record linkage of the findings in heterozygotes for use later in life is an unsolved problem. Seventy five first-degree relatives of the 48 probands were screened in follow-up studies (64% of parents participated); 5 couples at risk for having a future child with a hemoglobinopathy were identified. Attitudes toward follow-up varied among the ethnic groups. The single family with an affected newborn (sickle cell anemia) was counselled effectively; the infant received penicillin prophylaxis.(ABSTRACT TRUNCATED AT 250 WORDS)

Anemia, Sickle Cell↗
PubMed1992

Newborn screening for cystic fibrosis. The Cystic Fibrosis Neonatal Screening Study Group.

Many questions remain regarding the efficacy, risks, and costs of CF neonatal screening. The major gap in knowledge that must be closed before CF neonatal screening can be recommended generally in the United States concerns the potential long-term medical benefits of initiating treatment in early infancy. It would be premature, in our opinion, to implement mass population screening of newborns for CF until the benefits and risks have been fully defined, and an adequate and logistically feasible testing system developed and/or highly effective therapy for CF lung disease becomes available. It is for this reason we designed a randomized, controlled investigation of CF neonatal screening and implemented this project in Wisconsin during 1985. The fact that 5 years of randomized screening and systematic evaluation of outcome measures have not yet revealed any pulmonary benefits underscores the importance of rigorous investigation to resolve the efficacy issue. In addition to the medical uncertainties, we believe that the ethical issues described herein need to be resolved; this concern pertains not only to the CF patient but also the heterozygote carrier. On the other hand, financial factors and uncertainty about the cost effectiveness of CF neonatal screening do not appear to be dominant issues according to our assessment of current data. Despite the reservations related to the benefit/risk relationship, we expect that the discovery of the CF gene should have a favorable impact on neonatal screening for the disease, as well as for management.

Cost-Benefit Analysis↗
PubMed1990

Newborn screening for hemoglobinopathies in Colorado. The first 10 years.

In Colorado, newborn screening for hemoglobinopathies by cellulose acetate and citrate agar electrophoresis of dried capillary blood spots was established in 1979. We reviewed the results of screening 528,711 infants through 1988. Forty-seven infants with sickle cell diseases and 27 infants with other hemoglobin diseases were identified. The initial screening failed to detect sickle cell anemia in 4 infants, but the hemoglobinopathy in 3 of these infants was diagnosed correctly by routine retesting of those with suspected sickle cell trait. A total of 47 infants with sickle cell diseases were followed through September 1989. There was no mortality among these infants. The screening test identified 3779 infants (1:140 births) with a suspected hemoglobin trait; confirmatory retesting was obtained in 53%. The results of our experience confirm the value of newborn screening for hemoglobinopathies but suggest that a more sensitive test would improve the program.

Colorado↗
PubMed1976

[Investigation of the frequency of heterozygotes for galactose-1-phosphate-uridyl-transferase-deficiency(galactosemia) in the Vienna area. Comparison with the frequency of homozygotes found by newborn screening (author's transl)].

By routine newborn screening for galactose blood level elevations a great difference in the frequency of Galactosemia by transferase deficiency was observed between Eastern- and Western-Austria. This made enzymatic heterozygousity determinations desirable. At the same time it should be examined whether the frequency of homozygotes found by screening correlates with the frequency derived from the heterozygousity frequency. In a first step the region of Vienna was studied. 377 unselected blood samples were examined following BEUTLER-BALUDA's method. As technical control samples of 9 homozygotes and 12 heterozygotes as found by screening were examined but not included in the frequency study. Arranged following age groups a slight but significant decrease of enzym activity with increasing age could be confirmed (23,89 versus 21,99 U/g Hb). This, increasing the overlapping between normals and heterozygotes of different ages possibly should be kept in mind in individual heterzygousity determinations. The enzymatically determined frequency of heterozygotes was found to be twice as high as the frequency calculated from the frequency of biochemically detected but enzymatically proven homozygotes (1:53 versus 1:99). A comparison of the heterozygousity frequencies found in literature with the results of the most efficient (technically most reliable) screening programs shows that this discrepancy is great and general. Bases on heterozygousity frequencies the frequency of homozygotes found by screening programs seems to be at least 50% too low. Analysis of theoretical possibilities for loss of homozygotes by screening programs makes this explanation highly improbable. It seems more probable that the enzymatically determined heterozygotes frequency is too high by including still undefined allels or allel combinations which result in about half normal activity but not in disturbances resembling classical Galactosemia.

Age Factors↗
PubMed2025

Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years.

PURPOSE: Early hearing detection and intervention (EHDI) programs using audiometric screening techniques alone have a limited ability to detect noncongenital childhood permanent hearing loss (PHL). In 2019, Ontario launched universal newborn screening (NBS) for PHL risk factors, including congenital cytomegalovirus and 22 common variants in GJB2 and SLC26A4. Here, we describe our experience in screening for genetic risk factors. METHODS: Ontario newborns who participated in universal newborn hearing screening (UNHS) were offered risk factor screening using dried blood spots (DBS) collected for conventional newborn screening. The screening was conducted using a custom MassArray assay, and positive results were confirmed by Sanger sequencing or polymerase chain reaction. Diagnostic audiological assessments were performed for all screen-positive infants. RESULTS: Of the 412,424 infants screened, 93 had 2 variants in GJB2 or SLC26A4. Of these, 72 had confirmed PHL, 20 had normal hearing, and 1 declined follow-up. Thirteen infants with PHL (1 in 31,724; 11.8% of screen positives) were not identified through audiometric testing as they passed (3) or missed (10) the screening. Importantly, among infants who ultimately received cochlear implants, the detection of genetic etiology through NBS led to an accelerated time to diagnosis, assessment, and intervention. CONCLUSION: Genetic screening has strengthened UNHS and care for infants with or at risk of PHL in Ontario. This study is a step toward the broader inclusion of genomic testing in NBS.

Humans↗
PubMedDate not supplied

Results of newborn screening for CDH with and without sonography and correlation of risk factors.

The newborn screening results of 1,310 children examined by Ortolani's and Barlow's manual test, as well as 2,587 children investigated by sonography, have been compared. Of the sonographically pathological hips (technique of Graf), 52.2% had no sign of instability. This was especially true in dysplastic and decentering hip joints, but was found to a smaller degree even in dislocated hips. As a result, twice as many abduction pillows were ordered during the second period. Sonography also detected joints that were immature at birth, but became worse during development (8.9% of hips labeled type 2a, after Graf). A total of 6.54% pathological hips were detected by newborn screening and follow-up of immature hips.

Germany, West↗
PubMed2025

Data-driven consideration of genetic disorders for global genomic newborn screening programs.

PURPOSE: Over 30 international studies are exploring newborn sequencing (NBSeq) to expand the range of genetic disorders included in newborn screening. Substantial variability in gene selection across programs exists, highlighting the need for a systematic approach to prioritize genes. METHODS: We assembled a data set comprising 25 characteristics about each of the 4390 genes included in 27 NBSeq programs. We used regression analysis to identify several predictors of inclusion and developed a machine learning model to rank genes for public health consideration. RESULTS: Among 27 NBSeq programs, the number of genes analyzed ranged from 134 to 4299, with only 74 (1.7%) genes included by over 80% of programs. The most significant associations with gene inclusion across programs were presence on the US Recommended Uniform Screening Panel (inclusion increase of 74.7%, CI: 71.0%-78.4%), robust evidence on the natural history (29.5%, CI: 24.6%-34.4%), and treatment efficacy (17.0%, CI: 12.3%-21.7%) of the associated genetic disease. A boosted trees machine learning model using 13 predictors achieved high accuracy in predicting gene inclusion across programs (area under the curve = 0.915, R2 = 84%). CONCLUSION: The machine learning model developed here provides a ranked list of genes that can adapt to emerging evidence and regional needs, enabling more consistent and informed gene selection in NBSeq initiatives.

Humans↗
PubMed1990

Effects of newborn screening of cystic fibrosis on reported maternal behaviour.

Screening for cystic fibrosis is highly controversial. Concerns have been expressed that newborn screening may cause mothers, who had considered their child to be healthy before diagnosis, to overprotect their child. Some critics of screening also suggest that a period of delay from onset of symptoms to diagnosis may help a mother adjust to the reality of the child's lethal condition. This study compared the strength of overprotective child rearing attitudes of 29 mothers whose children were screened (13 had symptomatic children and 16 asymptomatic children) with the attitudes of 29 mothers whose children were diagnosed after the onset of symptoms. Results indicate that newborn screening had not increased a mother's tendency to overprotect her child with cystic fibrosis and in some cases the tendency had decreased. Further, delay in diagnosis when screening was not conducted usually caused mothers considerable personal distress.

Anxiety↗
PubMed2024

Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders.

PURPOSE: Over 30 research groups and companies are exploring newborn screening using genomic sequencing (NBSeq), but the sensitivity of this approach is not well understood. METHODS: We identified individuals with treatable inherited metabolic disorders (IMDs) and ascertained the proportion whose DNA analysis revealed explanatory deleterious variants (EDVs). We examined variables associated with EDV detection and estimated the sensitivity of DNA-first NBSeq. We further predicted the annual rate of true-positive and false-negative NBSeq results in the United States for several conditions on the Recommended Uniform Screening Panel. RESULTS: We identified 635 individuals with 80 unique IMDs. In univariate analyses, Black race (OR = 0.37, 95% CI: 0.16-0.89, P = .02) and public insurance (OR = 0.60, 95% CI: 0.39-0.91, P = .02) were less likely to be associated with finding EDVs. Had all individuals been screened with NBSeq, the sensitivity would have been 80.3%. We estimated that between 0 and 649.9 cases of Recommended Uniform Screening Panel IMDs would be missed annually by NBSeq in the United States. CONCLUSION: The overall sensitivity of NBSeq for treatable IMDs is estimated at 80.3%. That sensitivity will likely be lower for Black infants and those who are on public insurance.

Humans↗