Uterus Transplantation-Current Evaluation, Monitoring, and Emerging Diagnostics

Clin Chem. 2025 Dec 30;72(1):18-26. doi: 10.1093/clinchem/hvaf143. ABSTRACT BACKGROUND: Uterus transplantation (UTx) is uniquely positioned at the transition from experimental to clinical reality for women with absolute uterine factor insufficiency. As the technique gains wider clinical adoption, there is a growing need for standardization in both protocols and diagnostics. CONTENT: This review describes the current … Read more

The Mutational Epidemiology of Childhood Cancer

Clin Chem. 2025 Dec 30;72(1):140-151. doi: 10.1093/clinchem/hvaf154. ABSTRACT BACKGROUND: Childhood cancers comprise a variety of liquid and solid tumors that display different patterns of incidence than adult cancers. Most have distinct molecular subtypes characterized by specific genomic driver events. The mutational processes that influence the somatic landscape of cancers also generate distinctive mutational signatures (mutSig). … Read more

Circulating Clues: The Role of Cell-free DNA in Contemporary Prenatal Screening

Clin Chem. 2025 Dec 30;72(1):101-113. doi: 10.1093/clinchem/hvaf133. ABSTRACT BACKGROUND: Prenatal cell-free DNA (cfDNA) screening has transformed the prenatal aneuploidy testing landscape testing since its clinical introduction in 2011. Leveraging placentally derived cfDNA fragments as fetal indicators in maternal plasma, cfDNA screening enables highly sensitive aneuploidy detection, most notably for trisomies 21, 18, and 13. With … Read more

Integrating Newborn Screening Laboratory Data with Birth Defects Registries and Other Public Health Programs

Clin Chem. 2025 Dec 30;72(1):35-38. doi: 10.1093/clinchem/hvaf145. ABSTRACT BACKGROUND: Birth defects registries seek to identify all cases of major birth defects occurring in a population that are identified in the first year of life, while other public health programs collect data on special needs, developmental disabilities, and early intervention services. Because newborn screening programs are … Read more

Closing the Evidence Gaps in Trimester-Specific Pregnancy Reference Intervals for Biochemical Markers of Health and Disease

Clin Chem. 2025 Dec 30;72(1):192-205. doi: 10.1093/clinchem/hvaf124. ABSTRACT BACKGROUND: Pregnancy induces a series of physiological adaptations, making accurate interpretation of clinical laboratory tests essential for maternal and fetal health. However, significant knowledge gaps persist in understanding how gestation affects circulating blood biochemistry, leading to potential clinical misinterpretations and underscoring the need for updated reference intervals … Read more

Unmet Clinical Needs and Remaining Challenges of Pregnancy Reference Intervals

Clin Chem. 2025 Dec 30;72(1):47-60. doi: 10.1093/clinchem/hvaf150. ABSTRACT BACKGROUND: Pregnancy is characterized by dynamic physiological changes that alter the concentrations of many maternal blood biomarkers. Reporting results against nonpregnant reference values can lead to misinterpretation, diagnostic error, and inappropriate clinical management. The use and reporting of pregnancy-specific reference intervals (RIs) by laboratories is not yet … Read more

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

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

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

Can NT-proBNP Enhance the Accuracy of Angiogenic Factors in the Short-Term Prediction of Preeclampsia?

Clin Chem. 2025 Dec 30;72(1):206-216. doi: 10.1093/clinchem/hvaf135. ABSTRACT BACKGROUND: Angiogenic biomarkers aid in short-term prediction of preeclampsia (PE) but are often limited by false-positive results. N-terminal pro-B-type natriuretic peptide (NT-proBNP), which is elevated in PE due to cardiovascular dysfunction, may enhance diagnostic precision. This study evaluated whether adding NT-proBNP to the soluble fms-like tyrosine kinase-1 … Read more

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