Journal

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

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

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

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

Clin Chem. 2025 Dec 30;72(1):17. doi: 10.1093/clinchem/hvaf139. NO ABSTRACT PMID:41468140 | DOI:10.1093/clinchem/hvaf139

Clin Chem. 2025 Dec 30;72(1):7-10. doi: 10.1093/clinchem/hvaf149. NO ABSTRACT PMID:41468139 | DOI:10.1093/clinchem/hvaf149

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

Clin Chem. 2025 Dec 30;72(1):11-15. doi: 10.1093/clinchem/hvaf125. NO ABSTRACT PMID:41468137 | DOI:10.1093/clinchem/hvaf125

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

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