Simultaneous Prenatal cfDNA Screening of Aneuploidy, Recessive Single-Gene Conditions, and Fetomaternal Blood Compatibility

Clin Chem. 2026 Feb 19:hvag005. doi: 10.1093/clinchem/hvag005. Online ahead of print. ABSTRACT BACKGROUND: The provision of prenatal genetic screening in 3 core clinical contexts-recessive conditions, aneuploidy, and serological incompatibility-involves multiple tests across reproductive partners. This complexity limits utilization and impairs adherence to guideline-recommended care, particularly in carrier screening, where male partners are frequently not tested … Read more

Advancements in Blood Group Genotyping Technology and Clinical Applications

Clin Chem. 2026 Feb 18:hvag008. doi: 10.1093/clinchem/hvag008. Online ahead of print. ABSTRACT BACKGROUND: Blood group typing is essential in transfusion medicine, transplantation, and prenatal care. With the elucidation of the molecular genetics underlying blood group antigens, primarily single-nucleotide variants (SNVs), DNA-based genotyping has emerged as a powerful alternative to serological methods, enabling more accurate and … Read more

Characterization of STRC Gene Conversions by Nanopore Sequencing

Clin Chem. 2026 Feb 16:hvag004. doi: 10.1093/clinchem/hvag004. Online ahead of print. ABSTRACT BACKGROUND: Biallelic loss-of-function variants of STRC are a frequent cause of mild to moderate nonsyndromic hearing loss. The high (>98%) sequence homology between STRC and its pseudogene STRCP1 poses a significant challenge for accurate interpretation of STRC variants using standard methods. Although STRC-STRCP1 … Read more

Evaluation of Large-Language Models for Structured Feature Extraction of Anatomic and Clinical Pathology Reports

Clin Chem. 2026 Feb 12:hvag006. doi: 10.1093/clinchem/hvag006. Online ahead of print. ABSTRACT BACKGROUND: Feature extraction via manual chart review is often used for both patient care and research, but it is time-intensive and costly. Recent improvements in natural language processing present novel opportunities to perform high-throughput automated feature extraction. Here, we assessed the accuracy of … Read more

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