Comprehensive application of multiple molecular diagnostic techniques in pre-implantation genetic testing for monogenic.

BACKGROUND: Pre-implantation genetic testing for monogenic disorders (PGT-M) is an effective approach to reducing the incidence of birth defects by preventing the transmission of inherited diseases to offspring. However, there are still controversies regarding the detection methods and transplantation of embryos. This paper aims to evaluate the effectiveness of different detection technologies applied to PGT-M through a retrospective analysis of clinical detection data. METHODS: The carrier status of pathogenic mutations and chromosomal copy number variants (CNVs) in 892 embryos was characterized using next-generation sequencing (NGS), single-nucleotide polymorphism (SNP) array, and PCR-based detection technologies. Clinical data from PGT-M cases were retrospectively analyzed to assess the effectiveness of these detection methods in identifying genetic abnormalities in embryos. RESULTS: A total of 829 embryos were analyzed, with 63 being unsuccessful. Our study revealed that the success rate of detecting deletional mutations using Gap-PCR 84.9%, which is lower than that of SNP array (98.7%) and NGS (92.5%). However, no significant difference was observed when detecting point mutations using any of the methods. These findings suggest that, when detecting deletional mutations, SNP array and NGS are more suitable choices compared to Gap-PCR. While SNP array may have a lower resolution and success rate (80.5%) in analyzing CNVs compared to NGS (95.5%), it may still be useful for revealing certain abnormal types. CONCLUSION: In conclusion, this study found that SNP analysis is advantageous for identifying polygenic and deletional mutations, whereas NGS is more cost-efficient for detecting common monogenic diseases. Additionally, SNP-based haplotyping and PCR-based direct detection of mutations can be used together to enhance the accuracy and success rates of PGT-M. Our findings offer valuable insights for PGT technicians in choosing suitable detection methods for patients.

[Diagnostic value of serum Cystatin C in renal function impairments in children with viral encephalitis].

OBJECTIVE: To study the value of serum Cystatin C (Cyst C) in the evaluation of glomerular filtration function in children with viral encephalitis. METHODS: Serum levels of Cyst C, urea nitrogen (BUN) and creatinine (Cr) were measured in 92 children with viral encephalitis and in 50 healthy children as a control group. According to glomerular filtration rate (GFR), the encephalitis group was subdivided into normal renal function, renal insufficiency in the compensatory or decompensatory stage, and renal failure /end-stage groups. RESULTS: Serum levels of Cyst C, BUN and Cr in the encephalitis group increased and GFR decreased significantly compared with those in the control group (P<0.01). With the decline of renal function, GFR decreased and serum levels of Cyst C, BUN and Cr increased gradually. Serum levels of Cyst C and GFR were significantly different among the encephaitis subgroups (P<0.01). For serum levels of BUN and Cr, there were significant differences among the subgroups except between the normal renal function and the compensatory renal insufficiency groups. Serum Cyst C level was positively correlated with serum BUN and Cr levels, and negatively correlated with GFR. CONCLUSIONS: The children with viral encephalitis have different degrees of renal impairments. Cyst C appears to be superior to BUN and Cr as a marker for the evaluation of glomerular filtration function. Measurement of serum Cyst C levels is very valuable in renal function monitoring in children with viral encephalitis.