Genomic newborn screening
Genome or exome sequencing of newborns to detect treatable conditions.
Papers per year
Each bar is 12 months; the last one ends 17 Oct 2026. New trials in the same years: 26, 30, 30, 27, 21.
All papers from the last 12 months
605 papers (18 Oct 2025 – 17 Oct 2026), newest first. Loading the full list…
- Enteric-colonized Cronobacter spp. can disrupt the central nervous system without translocation across the host barriersGut Microbes2026 Dec 31PMID 42464430
- Genomic characterization of hepatitis B virus from a vaccinated child in Nigeria suggests delayed neonatal immunoprophylaxis rather than vaccine escape: a case reportIJID Reg2026 DecPMID 42840402
- A newborn with glycogen storage disease type Ib presenting with hypoglycemia and evidence of mitochondrial dysfunctionMol Genet Metab Rep2026 DecPMID 42835824
- Emerging infection and nosocomial transmission of carbapenem-resistant Klebsiella pneumoniae harboring bla(NDM-21) in a neonatal intensive care unitVirulence2026 DecPMID 42517253
- Autosomal dominant thrombocytopenia associated with the CYCS p.Arg92Gly variant: clinical characterization of an additional family and observation of antiplatelet tolerancePlatelets2026 DecPMID 41676885
- Genetic evaluation and clinical management of subsequent pregnancies based on previous adverse obstetric historyJ Matern Fetal Neonatal Med2026 DecPMID 41423341
- Molecular characterization and pathogenicity of a novel Chinese porcine deltacoronavirus strain CH/HLJ/20 isolated from diarrheic pigletsVirulence2026 DecPMID 41408166
- Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1Clin Genet2026 NovPMID 42630107Systematic review
- Identification of a Pathogenic RECQL4 1.6-kb Deletion-Insertion in a Neonate with Atypical Skeletal Phenotype of Baller-Gerold Syndrome Using Rapid Whole-Genome SequencingAnn Lab Med2026 Nov 1PMID 42608969
- Complexity of genomic diagnosis: Lessons learnt from the UK Biobank and Generation study newborn genome sequencing analysesBone2026 NovPMID 42425254
More pediatrics trends
All specialties →Obesity medicines in adolescents
GLP-1 based medicines for obesity in children and adolescents.
Key point: Pharmacotherapy is recommended for adolescents aged 12 years and older as adjunct therapy when appropriate, alongside intensive health behavior and lifestyle treatment.
Pediatric sepsis criteria
New definitions and criteria for sepsis in children, such as the Phoenix criteria.
Early autism detection
Screening and early diagnosis of autism in young children.
Kangaroo mother care
Skin-to-skin contact for preterm and low birth weight infants.
RSV prevention in infants
Nirsevimab, maternal vaccination and other ways to protect infants from RSV.
Key point: A complementary, progressive strategy should integrate maternal vaccination and monoclonal antibody immunoprophylaxis, initially prioritizing high-risk infants and gradually expanding to all susceptible infants.
Food allergy immunotherapy
Oral immunotherapy and biologics for food allergy.
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How these numbers are counted
PubMed query, searched in titles and abstracts by publication date:
("genomic sequencing"[tiab] OR "genome sequencing"[tiab] OR "exome sequencing"[tiab]) AND (newborn*[tiab] OR neonat*[tiab])Trials: ClinicalTrials.gov studies first submitted in each 12-month window that match the same terms. A query can miss synonyms or catch unrelated papers, so treat counts as approximate.