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Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder caused by bi-allelic deletions or pathogenic SMN1 variants. Early diagnosis through neonatal screening is essential for timely therapeutic intervention, significantly improving...

Newborn screening (NBS) is a cost-effective public health strategy for the early detection of congenital disorders that cause neonatal/infant morbidity and mortality. It is standard care in many high-income and emerging economies. Nigeria, despite it...

Newborn screening (NBS) for sickle cell disease (SCD) has been performed in the United States (US) for decades, significantly reducing infant morbidity and mortality. A landmark clinical trial demonstrated that early identification of SCD enabled tim...

Spinal muscular atrophy (SMA) is a genetic condition that causes the degeneration of motor neurons in the spinal cord. Newborn blood spot (NBS) screening can potentially enable diagnosis before symptoms, and presymptomatic treatment is considered to...

The aim of the evaluation was to gather information on parents’ experiences and attitudes towards the Irish National Newborn Bloodspot Screening Programme (NNBSP). An interviewer-administered survey was completed by 151 parents whose babies und...

In the Netherlands, the newborn screening (NBS) program includes screening for propionic aciduria (PA) and methylmalonic aciduria (MMA). When initial screening reveals elevated C3 concentrations or abnormal ratios (C3/C2, C3/C16), a second-tier test...

This study was designed to assess the effectiveness of neonatal congenital adrenal hyperplasia (CAH) screening in Guangzhou, China. A total of 818,417 newborns were screened for CAH by measuring 17-hydroxyprogesterone (17-OHP) concentrations. Cut-off...

3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is a metabolic disorder with a wide clinical spectrum ranging from asymptomatic individuals to severe metabolic decompensation. Following the introduction of expanded newborn screening, a high numb...

The German federal state of Bavaria implemented newborn screening (NBS) using dried blood spots (DBS) as an integrated public health programme with centralised coordination. The Bavarian NBS Centre collaborates with NBS laboratories, obstetric and pa...

Organic acid disorders (OADs) are inherited metabolic defects in the enzymes and cofactors involved in metabolic pathways. This systematic review and meta-analysis investigated the incidence and regional differences in OADs between the northern and s...

This study evaluates the incidence of metabolic disorders detected from January 2005 to December 2024 and their clinical outcomes. Data were retrospectively collected from the Louisiana Newborn Screening database. Clinical outcomes were obtained thro...

This book by Dr [...]

This study aims to investigate the genotype characteristics of newborns with biallelic GJB2 mutations and their correlation with hearing phenotypes, providing a basis for clinical genetic counseling and hearing management. A retrospective study was c...

Following Newborn Screening (NBS), parents receiving positive results experience various psychosocial effects upon learning their child’s genetic information or unexpected findings. These factors warrant careful consideration. The Japanese Medi...

Universal newborn hearing screening (UNHS) has become widely adopted worldwide as a standard of care for the early detection of congenital hearing loss. The Egyptian UNHS program started as a presidential initiative by the Ministry of Health in Novem...

Hemoglobinopathies represent a major public health concern in Tunisia. Although early diagnosis is essential, systemic neonatal screening has not yet been implemented at the national level. We conducted a screening study in Northern Tunisia (Bizerte...

Severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA) are being added to the Newborn Bloodspot Screening (NBS) programme in the Republic of Ireland. To support this expansion, we conducted a scoping review to identify reported tim...

Newborn screening (NBS) for congenital hypothyroidism (CH) facilitates early diagnosis and treatment and prevents permanent intellectual disability. Sadly, 50 years after the first introduction of NBS for CH, only 29.6% of newborns worldwide are scre...

Newborn screening (NBS) is evolving as novel technologies offer the opportunities to include a broader range of treatable disorders in its programs. Multiplexable, high-throughput DNA-based technologies such as next-generation sequencing (NGS) are be...

A systematic literature review was conducted to evaluate the emerging evidence on newborn screening (NBS) for metachromatic leukodystrophy (MLD; MIM #250100). The review focuses on (1) screening assay performance, (2) diagnostic confirmation methods...

We read with interest the recent study by Zaidman et al [...]

The goal of newborn screening (NBS) has remained the same despite its significant expansion from its inception as a public health initiative. This goal is to identify infants that are at risk for a set list of conditions and to implement a care plan...

Accurate variant classification is crucial for newborn screening (NBS) to prevent missed diagnoses or unnecessary interventions. The IDUA gene variant denoted as c.250G>A (p.Gly84Ser) has been identified in individuals with positive NBS for Mucopo...

Newborn screening (NBS), one of the most important public health care prevention programs, aims at the early identification of asymptomatic newborns at increased risk for inherited disorders, facilitating timely intervention to reduce morbidity and m...

This long-term observational study aimed to define the spectrum of genetic variation in a congenital hypothyroidism (CH) cohort and investigate the correlations between specific genotypes and clinical phenotypes, including treatment requirements and...

Newborn screening (NBS) for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) faces challenges. Accurate and precise SMN1 and SMN2 copy number determination, confirmed by two orthogonal methods, are vital for SMA prognosticati...

This methodological review identifies challenges in the development of health economic evaluations of newborn bloodspot screening (NBS) interventions and their consideration in NBS policy making. A systematic review of health economics methodological...

Early and timely screening for congenital heart disease (CHD) is one of the key challenges for healthcare professionals (HPs). This study aimed to identify barriers to the screening of CHD among healthcare professionals in Khyber Pakhtunkhwa, Pakista...

Cystic fibrosis (CF) is an autosomal recessive genetic condition affecting nearly 1 in 4000 newborns. Early diagnosis and treatment have been shown to improve the care of individuals with CF, which is enhanced through newborn screening (NBS). The sta...

Newborn screening (NBS) for congenital hypothyroidism (CH) has been going on for more than fifty years, but we are still learning more about the process and the disease(s) [...]

Isovaleric acidemia (IVA, OMIM 243500) is an inherited disorder of leucine metabolism caused by a deficiency of isovaleryl-CoA dehydrogenase (IVD), leading to an accumulation of isovaleric acid and its derivates 3-hydroxyisovaleric acid, isovaleryl (...

Newborn screening (NBS) has evolved significantly since its inception, yet many treatable rare diseases remain unscreened due to technical limitations. The BabyDetect study used gene panel sequencing to expand NBS to treatable conditions not covered...

Neonatal screening programs for inborn errors of metabolism are essential for early diagnosis and intervention. However, false-positive results can cause unnecessary psychological stress for caregivers. This study investigated the emotional impact on...

Clinical trials in spinal muscular atrophy (SMA) have shown that early treatment improves outcomes, prompting inclusion in newborn screening (NBS) programs worldwide. The province of Quebec launched its SMA NBS program in October 2023, with a rapidly...

The morbidity/mortality risks of cystic fibrosis (CF) with a delayed diagnosis have made newborn screening (NBS) attractive for the past 50 years. Initial efforts focused on meconium analyses, but these proved unsatisfactory. After dried blood spot s...

Early diagnosis by newborn screening (NBS) has contributed to improved outcomes in children with cystic fibrosis (CwCF). Georgia’s two-tiered algorithm consists of a fixed immunoreactive trypsinogen (IRT) cut-off followed by a 39-variant CFTR g...

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid oxidation that can have life-threatening consequences if not promptly treated. Early diagnosis by means of newborn screening (NBS) has the potenti...

Cystic fibrosis (CF) newborn screening (NBS) aims to improve outcomes through early diagnosis, yet disparities in time to diagnosis remain. This study examines CFTR allele frequencies and variant panel performance among a diverse CF population in Geo...

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the ABCD1 gene. Early diagnosis is critical to manage adrenal insufficiency and cerebral forms of the disease. Since 2021, a pilot newborn screening...

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is a metabolic disorder caused by mutations in the ACADM gene, leading to impaired fatty acid oxidation. The present study aims to analyze the prevalence and genetic mutation characteristics of M...

The State Hygienic Lab at the University of Iowa (SHL) performs newborn blood spot screening (NBS) for IA, AK, ND, and SD. In October 2022, we halted in-house CFTR DNA testing due to the unexpected nonperformance of our newly expanded variant panel....

Developmental dysplasia of the hip (DDH) is a common neonatal musculoskeletal disorder. In Germany, sonographic screening is recommended at 1–10 days of life for neonates with specific risk factors. This study aims to determine reference values...

For more than 60 years, newborn (or neonatal) screening has flourished through global collaboration, demonstrating that collective action is key to success. This unity proved to be especially vital during the COVID-19 pandemic, when, despite severe d...

Ukraine’s healthcare system has shown remarkable resilience in continuing newborn screening (NBS), beyond the challenges of war. Amid the conflict, a Ukrainian newborn screened positive for an extremely rare severe combined immunodeficiency (SC...

The absence of biochemical newborn screening (NBS) delays the diagnosis and treatment of congenital hypothyroidism (CH), resulting in irreversible neurodevelopmental damage. To determine the age at diagnosis for CH among Algerian children and to desc...

CblC deficiency is the most common intracellular disorder of vitamin B12 metabolism. Expanded newborn screening (NBS) plays a key role in early diagnosis, allowing timely treatment and preventing serious complications. However, traditional first-tier...

Acetoacetyl-CoA thiolase deficiency, also known as Beta-ketothiolase deficiency (BKTD), is an autosomal recessive organic aciduria included in the Italian newborn screening (NBS) panel. It is caused by mutations in the ACAT1 gene, which encodes the m...

Due to rapid technical advancements and increasing cost-effectiveness, the potential application of next-generation sequencing (NGS) in newborn screening (NBS) has raised great interest worldwide. Genomic NBS offers the possibility to improve current...

Pompe disease is an autosomal recessive metabolic disorder caused by acid alpha-glucosidase (GAA) deficiency. The use of umbilical cord blood (UCB) for newborn screening (NBS) of Pompe disease, compared to heel-prick sampling, has not been widely stu...

Sweden has one neonatal screening laboratory and two centers conducting diagnostic workup for inborn errors of metabolism (IEM). Next-generation sequencing (NGS) has been gradually introduced as a confirmatory diagnostic test in the Swedish newborn s...