International Journal of Neonatal Screening

Open AccessReview

Newborn Screening for Fabry Disease: Current Status of Knowledge

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Vincenza Gragnaniello

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Alessandro P. Burlina

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Int. J. Neonatal Screen. 2023, 9(2), 31; https://doi.org/10.3390/ijns9020031 - 05 Jun 2023

Abstract

Fabry disease is an X-linked progressive lysosomal disorder, due to α-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease. Patients presenting with the later onset subtypes have cardiac, renal and neurological involvements in adulthood. Unfortunately, the [...] Read more.

Fabry disease is an X-linked progressive lysosomal disorder, due to α-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease. Patients presenting with the later onset subtypes have cardiac, renal and neurological involvements in adulthood. Unfortunately, the diagnosis is often delayed until the organ damage is already irreversibly severe, making specific treatments less efficacious. For this reason, in the last two decades, newborn screening has been implemented to allow early diagnosis and treatment. This became possible with the application of the standard enzymology fluorometric method to dried blood spots. Then, high-throughput multiplexable assays, such as digital microfluidics and tandem mass spectrometry, were developed. Recently DNA-based methods have been applied to newborn screening in some countries. Using these methods, several newborn screening pilot studies and programs have been implemented worldwide. However, several concerns persist, and newborn screening for Fabry disease is still not universally accepted. In particular, enzyme-based methods miss a relevant number of affected females. Moreover, ethical issues are due to the large number of infants with later onset forms or variants of uncertain significance. Long term follow-up of individuals detected by newborn screening will improve our knowledge about the natural history of the disease, the phenotype prediction and the patients’ management, allowing a better evaluation of risks and benefits of the newborn screening for Fabry disease. Full article

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Open AccessReview

The Psychosocial Impact of Congenital Cytomegalovirus on Caregivers and Families: Lived Experiences and Review of the Literature

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Michelle P. Zappas

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Amanda Devereaux

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Megan H. Pesch

Int. J. Neonatal Screen. 2023, 9(2), 30; https://doi.org/10.3390/ijns9020030 - 26 May 2023

Abstract

Caring for a child with congenital cytomegalovirus (cCMV) can be costly for families, not only in terms of out-of-pocket expenses, but also in terms of caregiver time, relationships, career trajectories, and mental health. These additional burdens are sometimes referred to as “spillover effects”. [...] Read more.

Caring for a child with congenital cytomegalovirus (cCMV) can be costly for families, not only in terms of out-of-pocket expenses, but also in terms of caregiver time, relationships, career trajectories, and mental health. These additional burdens are sometimes referred to as “spillover effects”. As parents of children with cCMV, we, the authors of this article, discuss the impact that cCMV has had on our families. While multiple studies have reported on the epidemiology, prevention, screening, diagnosis, and management of cCMV, there has been minimal research regarding the possible impact on the family unit. In this narrative review, we discuss the various areas of the lives of families and caregivers that may be impacted by raising a child with cCMV. Whether children are minimally or severely affected by the sequelae of cCMV, they and their families merit the progression of awareness of the virus and governmental policies to help end cCMV. As the existing cCMV-specific literature is limited, we correlate studies of other childhood disabilities and find the mutuality experienced by families affected by cCMV. Full article

(This article belongs to the Special Issue Newborn Screening for Congenital CMV)

Open AccessArticle

Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation

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Int. J. Neonatal Screen. 2023, 9(2), 29; https://doi.org/10.3390/ijns9020029 - 16 May 2023

Abstract

5q spinal muscular atrophy (5q SMA) is one of the most common autosomal recessive disorders in the Russian Federation. The first medication to treat 5q SMA was registered in the Russian Federation for treatment of all 5q SMA types in 2019, and the [...] Read more.

5q spinal muscular atrophy (5q SMA) is one of the most common autosomal recessive disorders in the Russian Federation. The first medication to treat 5q SMA was registered in the Russian Federation for treatment of all 5q SMA types in 2019, and the last of the three currently available in December 2021. We launched the pilot newborn screening (NBS) program for 5q SMA in Moscow, the Russian Federation, starting in 2019. During the pilot program, 23,405 neonates were tested for the deletion of exon 7 of the SMN1 gene, the most common cause of 5q SMA. We used the SALSA^® MC002 SMA Newborn Screen Kit (MRC Holland) to specifically detect homozygous deletions of SMN1 exon 7. We used the restriction fragment length polymorphism (RFLP) approach to validate detected homozygous deletions and the SALSA MLPA Probemix P060 SMA Carrier Kit (MRC Holland) to determine the SMN2 exon 7 copy number to prescribe gene therapy for 5q SMA. Three newborns with a homozygous deletion of the SMN1 gene were detected. The calculated birth prevalence of 1:7801 appears to be similar to the results in other European countries. The children did not show any signs of respiratory involvement or bulbar weakness immediately after birth. Until now, no 5q SMA case missed by NBS has been detected. Full article

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Open AccessArticle

Implementation of Newborn Hearing Screening in Albania

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Int. J. Neonatal Screen. 2023, 9(2), 28; https://doi.org/10.3390/ijns9020028 - 10 May 2023

Abstract

Newborn hearing screening (NHS) was implemented in Albania in four maternity hospitals in 2018 and 2019. Implementation outcome, screening outcome, and screening quality measures were evaluated. Infants were first screened by midwives and nurses before discharge from the maternity hospital and returned for [...] Read more.

Newborn hearing screening (NHS) was implemented in Albania in four maternity hospitals in 2018 and 2019. Implementation outcome, screening outcome, and screening quality measures were evaluated. Infants were first screened by midwives and nurses before discharge from the maternity hospital and returned for follow-up screening. Acceptability, appropriateness, feasibility, adoption, fidelity, coverage, attendance, and stepwise and final-referral rates were assessed by onsite observations, interviews, questionnaires, and a screening database. A post hoc analysis was performed to identify reasons for loss to follow up (LTFU) in a multivariate logistic regression. In total, 22,818 infants were born, of which 96.6% were screened. For the second screening step, 33.6% of infants were LTFU, 40.4% for the third, and 35.8% for diagnostic assessment. Twenty-two (0.1%) were diagnosed with hearing loss of ≥40 dB, six unilateral. NHS was appropriate and feasible: most infants are born in maternity hospitals, hence nurses and midwives could perform screening, and screening rooms and logistic support were supplied. Adoption among screeners was good. Referral rates decreased steadily, reflecting increasing skill. Occasionally, screening was repeated during a screening step, contrary to the protocol. NHS in Albania was implemented successfully, though LTFU was high. It is important to have effective data tracking and supervision throughout the screening. Full article

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Open AccessEditorial

The Editor’s Choice for Issue 2, Volume 8

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Peter C. J. I. Schielen

Int. J. Neonatal Screen. 2023, 9(2), 27; https://doi.org/10.3390/ijns9020027 - 05 May 2023

Abstract

Volume 8, issue 2, consists of 15 papers, viewed by around 1500–2000 readers [...] Full article

Open AccessArticle

Information and Parental Consent for French Neonatal Screening: A Qualitative Study on Parental Opinion

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Int. J. Neonatal Screen. 2023, 9(2), 26; https://doi.org/10.3390/ijns9020026 - 03 May 2023

Abstract

Neonatal screening has excellent coverage in France. Data from the foreign literature raise questions about the informed consent to this screening. The Neonatal Screening and Informed Consent Dépistage Néonatal Information et Consentement Eclairé (DENICE) study was designed to assess whether information on neonatal [...] Read more.

Neonatal screening has excellent coverage in France. Data from the foreign literature raise questions about the informed consent to this screening. The Neonatal Screening and Informed Consent Dépistage Néonatal Information et Consentement Eclairé (DENICE) study was designed to assess whether information on neonatal screening provided for families in Brittany allows for informed consent. A qualitative methodology was chosen to collect parents’ opinions on this topic. Twenty semi-structured interviews were conducted with twenty-seven parents whose children had positive neonatal screening for one of six diseases. The five main themes from the qualitative analysis were knowledge of neonatal screening, information received by parents, parental choice, the experience of the screening process, and parents’ perspectives and wishes. Informed consent was weakened by parents’ lack of knowledge regarding choice and the absence of a parent after birth. The study found that more information about screening during pregnancy would be preferable. The information should be repeated and accessible and should make it clear that neonatal screening is not mandatory, but informed consent should be obtained from parents who choose to screen their newborns. Full article

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Open AccessArticle

Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand

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Kalyarat Wilaiwongsathien

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Duangrurdee Wattanasirichaigoon

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Sasivimol Rattanasiri

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Chanatpon Aonnuam

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Chayada Tangshewinsirikul

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Thipwimol Tim-Aroon

Int. J. Neonatal Screen. 2023, 9(2), 25; https://doi.org/10.3390/ijns9020025 - 03 May 2023

Abstract

Newborn screening (NBS) is a public health service that is used to screen for treatable conditions in many countries, including Thailand. Several reports have revealed low levels of parental awareness and knowledge about NBS. Because of limited data on parental perspectives toward NBS [...] Read more.

Newborn screening (NBS) is a public health service that is used to screen for treatable conditions in many countries, including Thailand. Several reports have revealed low levels of parental awareness and knowledge about NBS. Because of limited data on parental perspectives toward NBS in Asia and the differences in socio-cultural and economic contexts between Western and Asian countries, we conducted a study to explore parental perspectives on NBS in Thailand. A Thai questionnaire to assess awareness, knowledge, and attitudes regarding NBS was constructed. The final questionnaire was distributed to pregnant women, with or without their spouses, and to parents of children aged up to one year who visited the study sites in 2022. A total of 717 participants were enrolled. Up to 60% of parents were identified as having good awareness, which was significantly associated with gender, age, and occupation. Only 10% of parents were classified as having good knowledge relative to their education level and occupation. Providing appropriate NBS education should be initiated during antenatal care, focusing on both parents. This study noted a positive attitude toward expanded NBS for treatable inborn metabolic diseases, incurable disorders, and adult-onset diseases. However, modernized NBS should be holistically evaluated by multiple stakeholders in each country because of different socio-cultural and economic contexts. Full article

Open AccessCase Report

Foetal Haemoglobin as a Marker of Bone Marrow Suppression Secondary to Anti-Kell Alloimmunisation

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Rodrigo Alfredo Morales Painamil

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José Manuel González de Aledo-Castillo

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Marta Teresa-Palacio

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Ana Argudo-Ramírez

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Rosa M. López-Galera

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Abraham J. Paredes-Fuentes

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Victoria Aldecoa-Bilbao

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Miguel Alsina-Casanova

Int. J. Neonatal Screen. 2023, 9(2), 24; https://doi.org/10.3390/ijns9020024 - 23 Apr 2023

Abstract

Anti-Kell alloimmunisation is a potentially severe minor blood group type incompatibility, not only as a cause of haemolytic disease of the foetus and newborn, but also due to the destruction of red blood cells (RBC) and mature form in the bone marrow with [...] Read more.

Anti-Kell alloimmunisation is a potentially severe minor blood group type incompatibility, not only as a cause of haemolytic disease of the foetus and newborn, but also due to the destruction of red blood cells (RBC) and mature form in the bone marrow with the subsequent hyporegenerative anaemia. In severe cases and when the foetus shows signs of anaemia, an intrauterine transfusion (IUT) may be necessary. When repeated, this treatment can suppress erythropoiesis and worsen the anaemia. We report the case of a newborn who required four IUTs plus an additional RBC transfusion at one month of life due to late onset anaemia. The identification of an adult haemoglobin profile with a complete absence of foetal haemoglobin in the patient’s newborn screening samples at 2 and 10 days of life warned us of a possible late anaemia. The newborn was successfully treated with transfusion, oral supplements and subcutaneous erythropoietin. A blood sample taken at 4 months of life showed the expected haemoglobin profile for that age with a foetal haemoglobin of 17.7%. This case illustrates the importance of a close follow-up of these patients, as well as the usefulness of the haemoglobin profile screening as a tool for anaemia assessment. Full article

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Open AccessArticle

Infants with Congenital Diseases Identified through Newborn Screening—United States, 2018–2020

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Int. J. Neonatal Screen. 2023, 9(2), 23; https://doi.org/10.3390/ijns9020023 - 13 Apr 2023

Abstract

Newborn screening (NBS) is a state or territory-based public health system that screens newborns for congenital diseases that typically do not present with clinical symptoms at birth but can cause significant mortality and morbidity if not detected or treated quickly. NBS continues to [...] Read more.

Newborn screening (NBS) is a state or territory-based public health system that screens newborns for congenital diseases that typically do not present with clinical symptoms at birth but can cause significant mortality and morbidity if not detected or treated quickly. NBS continues to be one of the most successful public health interventions in the US, providing early detection and intervention to all infants. The increase in overall birth prevalence of core Recommended Uniform Screening Panel (RUSP) diseases detected via dried blood spot (DBS) specimens from 2015–2017 (17.50–18.31 per 10,000) to 2018–2020 (20.07 per 10,000), as reported into the APHL NewSTEPs database, affirms the importance and impact of NBS programs. This report presents aggregate numbers and birth prevalence of diseases detected by DBS on the RUSP from 2018–2020, including data from fifty US states and two territories. Full article

Open AccessOpinion

Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations

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Jovanka R. King

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Kalle Grill

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Lennart Hammarström

Int. J. Neonatal Screen. 2023, 9(2), 22; https://doi.org/10.3390/ijns9020022 - 11 Apr 2023

Cited by 1

Abstract

Inborn errors of immunity (IEI) are a group of over 450 genetically distinct conditions associated with significant morbidity and mortality, for which early diagnosis and treatment improve outcomes. Newborn screening for severe combined immunodeficiency (SCID) is currently underway in several countries, utilising a [...] Read more.

Inborn errors of immunity (IEI) are a group of over 450 genetically distinct conditions associated with significant morbidity and mortality, for which early diagnosis and treatment improve outcomes. Newborn screening for severe combined immunodeficiency (SCID) is currently underway in several countries, utilising a DNA-based technique to quantify T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC). This strategy will only identify those infants with an IEI associated with T and/or B cell lymphopenia. Other severe forms of IEI will not be detected. Up-front, first-tier genomic-based newborn screening has been proposed as a potential approach by which to concurrently screen infants for hundreds of monogenic diseases at birth. Given the clinical, phenotypic and genetic heterogeneity of IEI, a next-generation sequencing-based newborn screening approach would be suitable. There are, however, several ethical, legal and social issues which must be evaluated in detail prior to adopting a genomic-based newborn screening approach, and these are discussed herein in the context of IEI. Full article

(This article belongs to the Special Issue Ethical and Psychosocial Aspects of Genomics in the Neonatal Period)

Open AccessReview

Newborn Screening in a Pandemic—Lessons Learned

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Peter C. J. I. Schielen

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Rolf H. Zetterström

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Urh Groselj

Int. J. Neonatal Screen. 2023, 9(2), 21; https://doi.org/10.3390/ijns9020021 - 11 Apr 2023

Abstract

The COVID-19 pandemic affected many essential aspects of public health, including newborn screening programs (NBS). Centers reported missing cases of inherited metabolic disease as a consequence of decreased diagnostic process quality during the pandemic. A number of problems emerged at the start of [...] Read more.

The COVID-19 pandemic affected many essential aspects of public health, including newborn screening programs (NBS). Centers reported missing cases of inherited metabolic disease as a consequence of decreased diagnostic process quality during the pandemic. A number of problems emerged at the start of the pandemic, but from the beginning, solutions began to be proposed and implemented. Contingency plans were arranged, and these are reviewed and described in this article. Staff shortage emerged as an important issue, and as a result, new work schedules had to be implemented. The importance of personal protective equipment and social distancing also helped avoid disruption. Staff became stressed, and this needed to be addressed. The timeframe for collecting bloodspot samples was adapted in some cases, requiring reference ranges to be modified. A shortage of essential supplies and protective equipment was evident, and laboratories described sharing resources in some situations. The courier system had to be adapted to make timely and safe transport possible. Telemedicine became an essential tool to enable communication with patients, parents, and medical staff. Despite these difficulties, with adaptations and modifications, some centers evaluated candidate conditions, continued developments, or began new NBS. The pandemic can be regarded as a stress test of the NBS under real-world conditions, highlighting critical aspects of this multidisciplinary system and the need for establishing local, national, and global strategies to improve its robustness and reliability in times of shortage and overloaded national healthcare systems. Full article

(This article belongs to the Special Issue The COVID-19 Pandemic: The Impact on Newborn Screening Research, Clinical Care and Public Health)

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Open AccessReview

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018

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Int. J. Neonatal Screen. 2023, 9(2), 20; https://doi.org/10.3390/ijns9020020 - 06 Apr 2023

Abstract

The Recommended Uniform Screening Panel (RUSP) is the list of conditions recommended by the US Secretary of Health and Human Services for inclusion in state newborn screening (NBS). During 2010–2022, seven conditions were added to the RUSP: severe combined immunodeficiency (SCID) (2010), critical [...] Read more.

The Recommended Uniform Screening Panel (RUSP) is the list of conditions recommended by the US Secretary of Health and Human Services for inclusion in state newborn screening (NBS). During 2010–2022, seven conditions were added to the RUSP: severe combined immunodeficiency (SCID) (2010), critical congenital heart disease (CCHD) (2011), glycogen storage disease, type II (Pompe) (2015), mucopolysaccharidosis, type I (MPS I) (2016), X-linked adrenoleukodystrophy (X-ALD) (2016), spinal muscular atrophy (SMA) (2018), and mucopolysaccharidosis, type II (MPS II) (2022). The adoption of SCID and CCHD newborn screening by programs in all 50 states and three territories (Washington, D.C.; Guam; and Puerto Rico) took 8.6 and 6.8 years, respectively. As of December 2022, 37 programs screen for Pompe, 34 for MPS I, 32 for X-ALD, and 48 for SMA. The pace of implementation based on the average additional number of NBS programs per year was most rapid for SMA (11.3), followed by CCHD (7.8), SCID (6.2), MPS I (5.4), Pompe (4.9), and X-ALD (4.7). Full article

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Open AccessArticle

Newborn Screening Knowledge, Attitudes and Practices among Obstetrics-Gynecology Residents, Pediatric Residents, and Newborn Screening Nurses in a Tertiary Government Hospital in the Philippines during the COVID-19 Pandemic

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Patrick Jose D. Padilla

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Eileen M. Manalo

Int. J. Neonatal Screen. 2023, 9(2), 19; https://doi.org/10.3390/ijns9020019 - 01 Apr 2023

Abstract

Newborn Screening (NBS) saves babies from mental retardation and death. In the Philippines, it was formally established by law in 2004. Program success requires physicians, nurses, and midwives to educate and motivate parents. The COVID-19 pandemic reduced NBS coverage from 91.6% to 80% [...] Read more.

Newborn Screening (NBS) saves babies from mental retardation and death. In the Philippines, it was formally established by law in 2004. Program success requires physicians, nurses, and midwives to educate and motivate parents. The COVID-19 pandemic reduced NBS coverage from 91.6% to 80% between December 2019 and December 2020. This study aimed to (1) determine the knowledge, attitudes, and practices of residents and nurses relative to NBS during the COVID-19 pandemic; and (2) identify possible factors that may have affected NBS services at the Philippine General Hospital during the pandemic. Participants’ demographics were also compared with NBS practices. The study enrolled 189 participants employed during 2020. The results of a self-administered online questionnaire were evaluated. Only 31% of participants scored above a mean passing level for NBS knowledge set by experts. Most participants expressed a favorable attitude towards NBS. Knowledge scores were a significant factor in favorable attitude. Obstetrics-gynecology residents had lower attitude scores than Pediatric residents and NBS Nurses. Prenatal parent education was only practiced by 1/3 of participants. Despite the obstacles of the COVID-19 pandemic, participants appreciated the value of the NBS and were willing to perform specimen collection using safety precautions. Participants identified the need for additional NBS training. The challenges identified provide an avenue for further research with the goal of strengthening NBS, especially during a public health emergency. Full article

(This article belongs to the Special Issue The COVID-19 Pandemic: The Impact on Newborn Screening Research, Clinical Care and Public Health)

Open AccessArticle

Secondary Reporting of G6PD Deficiency on Newborn Screening

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Int. J. Neonatal Screen. 2023, 9(2), 18; https://doi.org/10.3390/ijns9020018 - 27 Mar 2023

Abstract

In April 2019, the Alberta Newborn Screening Program expanded to include screening for classic galactosemia using a two-tier screening approach. This approach secondarily identifies infants with glucose-6-phosphate dehydrogenase (G6PD) deficiency. The goals of this study were (i) to evaluate the performance of a [...] Read more.

In April 2019, the Alberta Newborn Screening Program expanded to include screening for classic galactosemia using a two-tier screening approach. This approach secondarily identifies infants with glucose-6-phosphate dehydrogenase (G6PD) deficiency. The goals of this study were (i) to evaluate the performance of a two-tier galactosemia screening protocol, (ii) to explore the impact on and acceptability to families of reporting G6PD deficiency as a secondary finding, and (iii) assess the communication and follow-up process for positive G6PD deficiency screening results. The two-tiered galactosemia approach increased the positive predictive value (PPV) for galactosemia from 8% to 79%. An additional 119 positive newborn screen results were reported for G6PD deficiency with a PPV of 92%. The results show that there may be utility in reporting G6PD deficiency results. Most parents who participated in the study reported having some residual worry around the unexpected diagnosis; however, all thought it was helpful to know of their child’s diagnosis of G6PD deficiency. Finally, the communication process for reporting G6PD deficiency newborn screen results was determined to result in appropriate follow up of infants. Full article

Open AccessArticle

A Cross-Sectional Survey of Pediatric Infectious Disease Physicians’ Approach to Congenital Cytomegalovirus Infection

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Int. J. Neonatal Screen. 2023, 9(2), 17; https://doi.org/10.3390/ijns9020017 - 24 Mar 2023

Abstract

Congenital cytomegalovirus (cCMV) continues to be a major public health care issue due to its high prevalence throughout the world. However, there is a paucity of studies evaluating how providers manage this infection. This study surveyed North American Pediatric Infectious Disease (PID) physicians [...] Read more.

Congenital cytomegalovirus (cCMV) continues to be a major public health care issue due to its high prevalence throughout the world. However, there is a paucity of studies evaluating how providers manage this infection. This study surveyed North American Pediatric Infectious Disease (PID) physicians to elicit their approach towards the evaluation and treatment of this condition. Thirty-two PID physicians responded to this survey. Institutional testing and screening for cCMV were infrequently reported. The respondents in general agreed upon most laboratory and diagnostic testing except for neuroimaging. For those tests, there was a disparity in indications for head ultrasound versus brain MRI imaging. Most (68.8%) agreed with the clinical practice of starting valganciclovir in an infant less than 1 month of age with one sign or symptom of disease, and 62.5% would do so for an infant with isolated sensorineural hearing loss. However, only 28.1% would treat cCMV-infected infants older than 1 month of age. In conclusion, few healthcare institutions represented by PID physicians in this cohort had a cCMV screening or testing initiative, yet most respondents would test at a much higher level based on their clinical practice. While there is general consensus in evaluation and treatment of these children, there are disparities in practices regarding neuroimaging and indications for antiviral treatment with respect to age and severity of disease. There is a great need for an evidence based policy statement to standardize cCMV workup and treatment. Full article

(This article belongs to the Special Issue Newborn Screening for Congenital CMV)

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Open AccessCase Report

A Positive Newborn Screen for Congenital Hypothyroidism in a Clinically Euthyroid Neonate—Avoiding Unnecessary Treatment

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Int. J. Neonatal Screen. 2023, 9(2), 16; https://doi.org/10.3390/ijns9020016 - 23 Mar 2023

Abstract

Newborn screening for congenital hypothyroidism (CH) has dramatically improved the neurocognitive outcomes for newborns with a confirmed positive screening test result. However, screening yields a small number of false positive and false negative results. This report describes the first known case of familial [...] Read more.

Newborn screening for congenital hypothyroidism (CH) has dramatically improved the neurocognitive outcomes for newborns with a confirmed positive screening test result. However, screening yields a small number of false positive and false negative results. This report describes the first known case of familial dysalbuminaemic hyperthyroxinaemia presenting with a positive newborn thyroid stimulating hormone screen. This condition is characterized by artefactually elevated free tetraiodothyronine (T4) and triiodothyronine (T3) levels due to increased albumin binding and subsequent dissociation during laboratory assays but normal true free thyroid hormone and thyroid stimulating hormone (TSH) levels in a clinically euthyroid subject. This highlights the need to take care when attributing clinical significance to discordant results. Full article

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Open AccessReview

Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm

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Peter. C. J. I. Schielen

Int. J. Neonatal Screen. 2023, 9(1), 15; https://doi.org/10.3390/ijns9010015 - 17 Mar 2023

Cited by 2

Abstract

In 1963, Robert Guthrie’s pioneering work developing a bacterial inhibition assay to measure phenylalanine in dried blood spots, provided the means for whole-population screening to detect phenylketonuria in the USA. In the following decades, NBS became firmly established as a part of public [...] Read more.

In 1963, Robert Guthrie’s pioneering work developing a bacterial inhibition assay to measure phenylalanine in dried blood spots, provided the means for whole-population screening to detect phenylketonuria in the USA. In the following decades, NBS became firmly established as a part of public health in developed countries. Technological advances allowed for the addition of new disorders into routine programmes and thereby resulted in a paradigm shift. Today, technological advances in immunological methods, tandem mass spectrometry, PCR techniques, DNA sequencing for mutational variant analysis, ultra-high performance liquid chromatography (UPLC), iso-electric focusing, and digital microfluidics are employed in the NBS laboratory to detect more than 60 disorders. In this review, we will provide the current state of methodological advances that have been introduced into NBS. Particularly, ‘second-tier’ methods have significantly improved both the specificity and sensitivity of testing. We will also present how proteomic and metabolomic techniques can potentially improve screening strategies to reduce the number of false-positive results and improve the prediction of pathogenicity. Additionally, we discuss the application of complex, multiparameter statistical procedures that use large datasets and statistical algorithms to improve the predictive outcomes of tests. Future developments, utilizing genomic techniques, are also likely to play an increasingly important role, possibly combined with artificial intelligence (AI)-driven software. We will consider the balance required to harness the potential of these new advances whilst maintaining the benefits and reducing the risks for harm associated with all screening. Full article

Open AccessArticle

Sickle Cell Disease Newborn Screening—An Audit of a Twin Island State Pilot Program

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Shivon Belle Jarvis

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Edda Hadeed

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Ketty Lee

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Marie-Dominique Hardy-Dessources

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Jennifer M. Knight-Madden

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Claudine Richardson

Int. J. Neonatal Screen. 2023, 9(1), 14; https://doi.org/10.3390/ijns9010014 - 01 Mar 2023

Abstract

The prevalence of Sickle Cell Disease (SCD) within the Caribbean region remains second only to that of West Africa. The Newborn Screening (NBS) Program in Antigua and Barbuda remains heavily dependent on grants, therefore ultimately facing sustainability challenges. Early intervention and implementation of [...] Read more.

The prevalence of Sickle Cell Disease (SCD) within the Caribbean region remains second only to that of West Africa. The Newborn Screening (NBS) Program in Antigua and Barbuda remains heavily dependent on grants, therefore ultimately facing sustainability challenges. Early intervention and implementation of preventative measures post-NBS result in significant improvements in morbidity, quality of life, and survival. This audit reviewed the pilot SCD NBS Program in Antigua and Barbuda from September 2020 to December 2021. A conclusive result was received by 99% of babies eligible for screening, 84.3% of which were HbFA, whilst 9.6% and 4.6% were HbFAS and HbFAC, respectively. This was comparable to other Caribbean countries. Sickle Cell Disease was noted in 0.5% of babies screened, which translates to 1 in 222 live births. Eighty-two percent of mothers were aware of their sickle cell status, compared to 3% of fathers. The importance of instituting a quality improvement team post the initiation of a screening program and the need for a robust public education program have been demonstrated by this audit. Full article

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Open AccessArticle

Multi-Laboratory Evaluation of Prototype Dried Blood Spot Quality Control Materials for Creatine Kinase-MM Newborn Screening Assays

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Konstantinos Petritis

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Robert F. Vogt

Int. J. Neonatal Screen. 2023, 9(1), 13; https://doi.org/10.3390/ijns9010013 - 28 Feb 2023

Abstract

Pilot studies to detect newborns with Duchenne Muscular Dystrophy (DMD) by newborn bloodspot screening (NBS) have been conducted under the New York State Newborn Screening Program (NYS) and are currently in progress as part of the Early Check Program at Research Triangle Institute [...] Read more.

Pilot studies to detect newborns with Duchenne Muscular Dystrophy (DMD) by newborn bloodspot screening (NBS) have been conducted under the New York State Newborn Screening Program (NYS) and are currently in progress as part of the Early Check Program at Research Triangle Institute (RTI) International. The Newborn Screening Quality Assurance Program (NSQAP) at the U.S. Centers for Disease Control and Prevention (CDC) produced a set of seven prototype dried blood spot (DBS) reference materials spiked with varying levels of creatine kinase MM isoform (CK-MM). These DBS were evaluated over a 3-week period by CDC, NYS, and RTI, all using the same CK-MM isoform-specific fluoroimmunoassay. Results from each laboratory were highly correlated with the relative proportion of CK-MM added to each of the six spiked pools. Based on reference ranges established by NYS and RTI for their pilot studies, these contrived DBS collectively spanned the CK-MM ranges found in typical newborns and the elevated ranges associated with DMD. This set allows quality assessment over the wide range of fluctuating CK-MM levels in typical and DMD-affected newborns. Full article

(This article belongs to the Special Issue Newborn Screening for Duchenne Muscular Dystrophy)

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International Journal of Neonatal Screening

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