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Newborn screening for congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) is essential to reduce the risk of morbidity and mortality from delayed identification and treatment of these conditions. Infants with untreated CH are at risk for intellectual disability, psychomotor dysfunction, and impaired growth, and those with untreated CAH are at risk for adrenal crisis as well as significant virilization of female infants. As multiple perinatal factors such as prematurity, clinical instability, and maternal health conditions and medications can impact newborn screening results, early consultation of pediatric endocrinology is recommended to ensure test interpretation incorporates perinatal considerations.
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http://dx.doi.org/10.1016/j.clp.2025.06.006 | DOI Listing |
Mol Genet Genomic Med
September 2025
Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, Ontario, Canada.
Background: Human chimerism is rare, and most prevalent with discordant chromosomal sex. We report a male 46,XY/46,XY chimera, born through a spontaneously conceived pregnancy to a healthy 32-year-old G1P0 Indian, African, and Scottish female and her 34-year-old healthy Chinese partner. The prenatal presentation and postnatal outcomes are described.
View Article and Find Full Text PDFNat Med
September 2025
GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.
Although genomic sequencing presents groundbreaking newborn screening (NBS) opportunities, critical feasibility and utility questions remain. Here we present initial results from the Early Check program-an observational study assessing the feasibility and clinical utility of genomic NBS in North Carolina. Recruitment was statewide through mailed letters with electronic consent.
View Article and Find Full Text PDFArch Dis Child Fetal Neonatal Ed
September 2025
Department of Pediatrics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.
Objective: Bronchopulmonary dysplasia (BPD) associated pulmonary hypertension (BPD-PH) is the most severe endotype of BPD; there is insufficient evidence to support the optimal screening strategy in at-risk infants. We hypothesised that serial echocardiography throughout hospitalisation would improve PH detection with increased negative predictive value (NPV) beyond 36 week's postmenstrual age (PMA).
Study Design: This was a single centre cohort study conducted between 2017 and 2023.
Cannabis use among pregnant individuals presents ongoing challenges and opportunities for nursing professionals. This practice article examines current trends, motivations, and implications of cannabis consumption during pregnancy and the postpartum period. Nurses play an instrumental role in patient education, screening, and intervention strategies.
View Article and Find Full Text PDFNeuroimage
September 2025
Fetal Neonatal Neuroimaging and Developmental Science Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston,
Fetal brain development is a complex and dynamic process, and its disruption can lead to significant neurological disorders. Early detection of brain aberrations during pregnancy is critical for optimizing postnatal medical intervention. We propose a deep generative anomaly detection framework, conditional cyclic variational autoencoding generative adversarial network (CCVAEGAN), that can identify structural brain anomalies using fetal brain magnetic resonance imaging.
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