Clinical Chemistry

Environmental Contaminants and Congenital Heart Defects: Focus on PFAS, PAHs, and Other Emerging Exposures

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Clin Chem. 2025 Dec 30;72(1):133-139. doi: 10.1093/clinchem/hvaf158. ABSTRACT BACKGROUND: Congenital heart defects (CHDs) are the most prevalent birth defects, contributing significantly to infant morbidity and mortality. While genetic factors account for a subset of CHDs, environmental exposures during critical periods of cardiac development are increasingly recognized as potential contributors. CONTENT: This review synthesizes current evidence … Read more

From PKU to Genome Sequencing: The Past, Present, and Future of Newborn Screening

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Clin Chem. 2025 Dec 30;72(1):123-132. doi: 10.1093/clinchem/hvaf148. ABSTRACT BACKGROUND: Newborn screening (NBS) is a foundational public health program designed to identify severe but treatable conditions in presymptomatic newborns. Since Robert Guthrie introduced the phenylketonuria test in the 1960s, NBS has evolved from single-condition assays to multiplex platforms, enabling early diagnosis, intervention, and long-term follow-up. Understanding … Read more

Universal Screening of Cytomegalovirus Viral Load by Low-Pass Whole-Genome Sequencing in First-Trimester Pregnancy: Clinical Validation

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Clin Chem. 2025 Dec 30;72(1):173-182. doi: 10.1093/clinchem/hvaf159. ABSTRACT BACKGROUND: Congenital cytomegalovirus (cCMV) infection is a leading cause of sensorineural hearing loss in children. Recent evidence that high-dose valacyclovir reduces vertical transmission following primary maternal infection has renewed the urgency for screening. We investigated the utility of quantifying cell-free CMV DNA from noninvasive prenatal screening (NIPS) … Read more

Fecal Microbiota Therapy: Clinical Laboratory Testing and Metabolomic Approaches for Donor Screening, Product Assessment, and Patient Monitoring

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Clin Chem. 2025 Dec 19:hvaf156. doi: 10.1093/clinchem/hvaf156. Online ahead of print. ABSTRACT BACKGROUND: The safety and efficacy of fecal microbiota transplantation for prevention of recurrent Clostridioides difficile infection relies on complex interactions between the donor and recipient microbiome. CONTENT: Screening of donor stool has largely aimed to ensure safety; however, metagenomic and metabolic features of … Read more

Association of Serum Uromodulin and Carbamylated Albumin with All-Cause and Cardiovascular Mortality in Patients with No or Mild Chronic Kidney Disease

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Clin Chem. 2025 Dec 16:hvaf166. doi: 10.1093/clinchem/hvaf166. Online ahead of print. ABSTRACT BACKGROUND: Serum uromodulin (SUmod) and carbamylated albumin (C-Alb) are emerging biomarkers for chronic kidney disease (CKD) progression and mortality. SUmod reflects tubular health, while C-Alb is associated with excretory kidney function, CKD progression, and cardiovascular (CV) mortality. We hypothesized that the combined use … Read more

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