2026, 6(2): 109-116.
doi: 10.1515/fzm-2026-0011
Objective Prenatal diagnosis in cold regions faces distinctive challenges related to extreme cold climatic conditions, which can substantially reduce healthcare compliance among pregnant women and limit the accessibility and accuracy of local prenatal diagnostic services. However, targeted research on region-specific diagnostic barriers and optimized combined detection strategies remains insufficient. This study systematically investigated the unique challenges of prenatal diagnosis in cold regions, with particular emphasis on the impact of harsh climatic conditions on healthcare compliance among pregnant women and evaluated the clinical utility of integrating chromosomal karyotyping with copy number variation sequencing (CNV-seq). Methods A retrospective analysis was conducted among high-risk pregnant women over a two-year period. Seasonal differences in prenatal clinic attendance were statistically analyzed to identify key barriers affecting healthcare compliance. Additionally, the clinical efficacy of combined chromosomal karyotyping and CNV-seq was systematically evaluated. Results Retrospective analysis of high-risk pregnancies revealed a statistically significant decline in winter clinic attendance (χ2 = 9.51, P < 0.05) over the two-year period, mainly associated with transportation difficulties, concerns regarding nosocomial infection, and local cultural practices. The combined use of chromosomal karyotyping and CNV-seq demonstrated complementary diagnostic value. Karyotyping identified 12 balanced translocations, 23 sex chromosome aneuploidies, and 29 chromosomal polymorphic variants, while CNV-seq detected 19 pathogenic or likely pathogenic microdeletions/microduplications, including 16 pathogenic variants. Together, the two methods increased the overall abnormality detection rate to 18.64% (118/633), representing a 7.42% improvement over single-method detection strategies. Conclusions Based on these findings, several regionally optimized strategies are proposed, including the establishment of a "central laboratory + satellite clinics" network, the promotion of non-invasive prenatal testing (NIPT) combined with first-trimester ultrasound screening to reduce unnecessary invasive procedures, and improved management of high-risk pregnancies through tele-genetic counseling, winter green-channel services, and vitamin D supplementation. This study provides both theoretical and practical frameworks for improving the precision, accessibility, and equity of prenatal diagnostic systems in cold regions.
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