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

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

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

From Diagnostics to Data Analytics: A Strategic Approach to Closing Care Gaps in Pregnancy

Clin Chem. 2025 Dec 30;72(1):39-46. doi: 10.1093/clinchem/hvaf146. ABSTRACT BACKGROUND: Persistent disparities in prenatal care contribute to preventable maternal and fetal morbidity and mortality, particularly among high-risk and underserved populations. Clinical laboratories play a central role in early detection of prenatal gaps in care and stratifying pregnancy-related risk factors linked to other health conditions, yet their … Read more

The Unique Utility of Newborn Dried Blood Spots for Driving Discovery in Childhood Cancer Research

Clin Chem. 2025 Dec 30;72(1):82-100. doi: 10.1093/clinchem/hvaf169. ABSTRACT BACKGROUND: Childhood cancer, though rare, remains the leading cause of disease-related death among children in the United States. The overall incidence has been rising for the past several decades, and the factors underlying the increasing rates are unclear. This unexplained increase underscores the critical need for high-quality, … Read more

Impact of pneumatic tube system transport and blood collection tubes on cell-free DNA analysis of plasma samplesLuisa Matos do Cantoon December 30, 2025 at 11:00 am

Clin Chem Lab Med. 2025 Oct 9;64(2):332-342. doi: 10.1515/cclm-2025-0367. Print 2026 Jan 29. ABSTRACT OBJECTIVES: Transporting blood samples with pneumatic tube systems (PTSs) is routine in many hospitals. The influence of PTS transport on cell-free DNA (cfDNA) and circulating tumor DNA (ctDNA) analyses has not been comprehensively tested. METHODS: Paired blood samples from non-patient donors … Read more

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