RESUMEN
Background: Copy number variation sequencing (CNV-seq) is a powerful tool to discover structural genomic variation, but limitations associated with its retrospective study design and inadequate diversity of participants can be impractical for clinical application. Aim: This study aims to use CNV-seq to assess chromosomal aberrations in pregnant Vietnamese women. Materials & methods: A large-scale study was conducted on 3776 pregnant Vietnamese women with abnormal ultrasound findings. Results: Chromosomal aberrations were found in 448 (11.86%) women. Of these, 274 (7.26%) had chromosomal aneuploidies and 174 (4.61%) carried pathogenic/likely pathogenic CNVs. Correlations were established between chromosomal aberrations and various phenotypic markers. Conclusion: This comprehensive clinical study illuminates the pivotal role of CNV-seq in prenatal diagnosis for pregnancies featuring fetal ultrasound anomalies.
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Asunto(s)
Aberraciones Cromosómicas , Variaciones en el Número de Copia de ADN , Feto , Humanos , Femenino , Embarazo , Variaciones en el Número de Copia de ADN/genética , Vietnam , Adulto , Estudios Retrospectivos , Diagnóstico Prenatal/métodos , Aneuploidia , Pueblo Asiatico/genética , Ultrasonografía Prenatal/métodos , Pueblos del Sudeste AsiáticoRESUMEN
Research on 94 patients from 20 to 50 years old with lumbar vertebro disk hernia of moderate and severe grade (stage 3B, 3C-4) with the male incidence is higher than femal. Among of them, 64% at L4-L5 inter-verteba interstice, 38% at the lower back, 12% in the centre, 23% at multistage. The patients were treated by drafts: the first was massage, adjust- stretch pull vertebro, reduce pain, injection Hydrococtizon to external dura mater, the second was injection hydrococtiron +lidicain) into disk hernia combine with the first draft, the third was making tear at both sides of disk hernia combine the second draft. Result: 3b period had good result in the first draft (61%), the second draft (62%), the third draft (68,5%). 3c-4 had good and moderately good result in the first draft (25%), the second draft (41%), the third draft (58%). Following result after 3 to 6 months or 1 year was good