Neonatal hemorrhagic syndrome, which affects several principal organs during the early neonatal period, denotes a deficiency of vitamin K and coagulation factors.
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Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.
Int J Neonatal Screen
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Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain.
Spinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of the survival motor neuron 1 () gene in 95% of patients. A timely diagnosis via newborn screening (NBS) and initiating treatment before the onset of symptoms are critical for improving health outcomes in affected individuals. We carried out a screening test by quantitative PCR (qPCR) to amplify the exon seven of using dried blood spot (DBS) samples.
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Int J Neonatal Screen
January 2025
Key Proteo, Inc., Seattle, WA 98122, USA.
For many genetic disorders, there are no specific metabolic biomarkers nor analytical methods suitable for newborn population screening, even where highly effective preemptive treatments are available. The direct measurement of signature peptides as a surrogate marker for the protein in dried blood spots (DBSs) has been shown to successfully identify patients with Wilson Disease (WD) and three life-threatening inborn errors of immunity, X-linked agammaglobulinemia (XLA), Wiskott-Aldrich syndrome (WAS), and adenosine deaminase deficiency (ADAD). A novel proteomic-based multiplex assay to detect these four conditions from DBS using high-throughput LC-MS/MS was developed and validated.
View Article and Find Full Text PDFDevelopment, Validation, and Application of the Paya Hamsan Technologies Underivatized Newborn Screening Assay (PHUNSA) for Inborn Metabolic Disorders in Dried Blood Spot Samples from Iranian Infants.
Int J Neonatal Screen
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Molecular Engineering & Sciences Institute, Arak University, Arak 3848177584, Iran.
Screening for inborn metabolic disorders (IMDs) in newborns is an important way to prevent serious metabolic and developmental difficulties that can result in lasting disabilities or even death. Electrospray ionization tandem mass spectrometry (MS/MS) provides an efficacious newborn blood spot screening (NBS) mechanism for analyzing dried blood spot specimens (DBSs) for biochemical markers for these conditions. Where possible, the elimination of derivatization in specimen preparation can simplify and streamline analysis.
View Article and Find Full Text PDFNewborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.
Int J Neonatal Screen
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Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9718 GZ Groningen, The Netherlands.
The biomarker-based Dutch Newborn Screening (NBS) panel (as of 2024) comprises 19 inherited metabolic disorders (IMDs). With the use of next-generation sequencing (NGS) as a first-tier screen, NBS could expand to include IMDs that lack a reliable biochemical footprint in dried blood spots, while also reducing secondary findings. To be eligible for inclusion in NBS, an IMD needs to fulfill the Wilson and Jungner criteria, with treatability being one of the most important criteria.
View Article and Find Full Text PDFThe benefit of additional embolization after perioperative balloon occlusion of pelvic artery during cesarean hysterectomy in placenta accreta spectrum.
Acta Radiol
January 2025
Department of Diagnostic and Therapeutic Radiology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Background: Cesarean hysterectomy in the placenta accreta spectrum (PAS) remains challenging due to difficulty in controlling perioperative bleeding.
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Material And Methods: A total of 26 pathological confirmed cases of PAS were retrospectively reviewed and categorized into two groups: perioperative balloon occlusion at either the anterior division of the internal iliac artery or uterine artery followed by gelfoam embolization (n = 12, study group) and perioperative balloon occlusion alone (n = 14, control group).
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