Gout is the most prevalent inflammatory arthritis worldwide and represents a growing global health burden. It arises from hyperuricemia resulting from disordered purine metabolism, leading to monosodium urate (MSU) crystal deposition and recurrent inflammatory arthritis. Although hyperuricemia is the principal risk factor, genetic susceptibility, impaired urate transport, and emerging factors such as the gut microbiota also contribute to disease development. Acute flares are mediated by MSU crystal-induced activation of the NLRP3 inflammasome and subsequent interleukin-1β production, whereas chronic inflammation results in tophus formation and structural joint damage. Gout is closely associated with metabolic syndrome, chronic kidney disease, and cardiovascular disease, which contribute to persistently elevated mortality. Although advances in imaging and pharmacologic therapy have improved diagnosis and management, the real-world use of urate-lowering therapy remains suboptimal. Further research and sustained efforts by healthcare professionals are needed to improve long-term disease control.
Noninvasive prenatal testing (NIPT) is widely performed and enables the detection of fetal chromosomal abnormalities through the analysis of cell-free fetal DNA in maternal blood. Since its introduction in 2011, NIPT has demonstrated high sensitivity and specificity for common trisomies (trisomy 21, trisomy 18, trisomy 13), and its scope has rapidly expanded to include sex chromosome aneuploidies, microdeletion syndromes, and single-gene disorders. However, the widespread adoption of NIPT has brought new challenges, including technical limitations (e.g., low fetal fraction, placental mosaicism), interpretation of variants of uncertain significance, and ethical concerns related to over-screening and patient anxiety. This review summarizes the historical evolution, technical advances, clinical applications, limitations, and future perspectives of NIPT, emphasizing the need for balanced clinical implementation and ongoing innovation.
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