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Non-Invasive Prenatal Testing with Next Generation Sequencing Methods in Birth Defect Pregnancy: A Pilot Study Suardika, Anom; Kusuma, Anak Agung Ngurah Jaya; Ermayanti, Ni Gusti Ayu Manik; Widiyanti, Endang Sri; Wibawa, I Gusti Ngurah Agung Satria; Silvana, Divika; Budayasa, Anak Agung Gede Raka; Dewi, Ni Nyoman Ayu; Jawi, I Made; Sun, H. Sunny; Tang, Yen-An
The Indonesian Biomedical Journal Vol 17, No 4 (2025)
Publisher : The Prodia Education and Research Institute (PERI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18585/inabj.v17i4.3753

Abstract

BACKGROUND: Identification of cell-free foetal DNA (cffDNA) in maternal blood, combined with next-generation sequencing (NGS) advancement, has paved the way for non-invasive prenatal screening to detect foetal aneuploidies. However, there is limited evidence on its diagnostic accuracy when compared with gold-standard invasive tests specifically in pregnancies complicated by birth defects in Indonesia. This study was conducted to evaluate the precision of non-invasive prenatal testing (NIPT) using NGS and ultrasound findings compared with the established benchmarks of amniocentesis and neonatal karyotyping through G-banding analysis, which is an invasive procedures, in a private laboratory setting for pregnancies with birth defect.METHODS: An observational cohort study involving pregnant women with foetal birth defects in central nervous system, facial, heart, gastrointestinal tract, urinary tract abnormalities and suspected Down Syndrome was conducted. The foetal birth defects were identified in the first trimester with ultrasound screening. Venous blood was drawn from the mother for NGS-based NIPT examination. As a gold standard, amniocentesis or neonatal G-banding karyotyping was conducted.RESULTS: Using G-banding karyotyping as gold standard, the results indicated that NIPT using the NGS method and ultrasound findings achieved 100% sensitivity, 100% specificity, and 100% accuracy in detecting trisomy 13, 18, and 21, as well as foetal sex chromosome abnormalities. Additionally, a case of tetrasomy 9p was identified through G-banding karyotyping, which was associated with multiple clinical abnormalities.CONCLUSION: NIPT with NGS methods and ultrasound findings demonstrated 100% accuracy for the screening of trisomy 13, 18, and 21 in birth defect pregnancy, which is comparable with G-banding analysis as a gold standard. Therefore, this suggest that these approaches offer a safe early detection, highly accurate alternative in high risk setting, compared to invasive procedure in Indonesia where access to such testing may be limited. KEYWORDS: G-banding karyotyping, next generation sequencing, non-invasive prenatal testing
Weaving Activity and High Plasma Levels of Brain-Derived Neurothrophic Factor (BDNF) As A Protective Factors Against Cognitive Dysfunction in Middle-Aged Women Yuniarni, Ruth Sharon; Widyadharma, I Putu Eka; Juhanna, Indira Vidiari; Rumai, I Made Winarsa; Dewi, Ni Nyoman Ayu; Komalasari, Ni Luh Gede Yoni
Jurnal Locus Penelitian dan Pengabdian Vol. 4 No. 8 (2025): JURNAL LOCUS: Penelitian dan Pengabdian
Publisher : Riviera Publishing

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.58344/locus.v4i8.4671

Abstract

Cognitive dysfunction is a common problem associated with ageing and affects quality of life. As a repetitive activity, weaving and brain-derived neurotrophic factor (BDNF) levels are believed to be essential in maintaining cognitive function. This study aims to prove the relationship between weaving activity, BDNF levels, and cognitive dysfunction. This study is an observational study with a case-control design. The study subjects were middle-aged women (45–59 years) divided into two groups: CD (cases) and non-CD (controls). CD status was determined using the Mini-Mental State Examination (MMSE) score. Weaving activity was assessed through a questionnaire, with the criterion for active weaving being at least 3–5 times per week (minimum 60 minutes per session), categorised as weaving (+) and non-weaving (–). Plasma BDNF levels were measured using an ELISA kit and categorised as high BDNF (+) and low BDNF (–) based on the mean value. The researchers performed statistical analysis using the Chi-Square test and logistic regression. The Chi-Square test showed a significant association between weaving activity as a protective factor against CD occurrence (p < 0.001; OR: 0.038) and high BDNF levels as a protective factor against CD occurrence (p < 0.001; OR: 0.013). Multivariate analysis using logistic regression indicated that weaving activity (p = 0.001; AOR: 0.028; CI: 0.003–0.247) and high BDNF levels (p < 0.001; AOR: 0.011; CI: 0.001–0.100) were independent protective factors against CD occurrence. This study indicates that weaving activity and high plasma BDNF levels are independent protective factors against CD.
Interleukin-6 (Il-6) dan Jalur Nf-Κb Target Kunci Inflamasi dalam Proses Penuaan Dewi, Ade Yasinta; Dewi, Ni Nyoman Ayu
Syntax Literate Jurnal Ilmiah Indonesia
Publisher : Syntax Corporation

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.36418/syntax-literate.v10i11.62478

Abstract

Aging is a complex biological process characterized by a gradual decline in physiological functions and increased susceptibility to degenerative diseases. A hallmark of aging is low-grade, chronic, non-infectious inflammation known as inflammaging. This phenomenon is driven by the accumulation of senescent cells that actively secrete pro-inflammatory mediators through the senescence-associated secretory phenotype (SASP). Among these mediators, Interleukin-6 (IL-6) and the transcription factor Nuclear Factor-kappa B (NF-κB) play central roles. NF-κB acts as a master regulator of pro-inflammatory gene expression, including IL-6, and is activated by various stimuli such as oxidative stress and DNA damage. IL-6 secreted by senescent cells activates the JAK/STAT3 pathway, which in turn enhances NF-κB activity, creating a positive feedback loop that sustains chronic inflammation. This mutual reinforcement between IL-6/STAT3 and NF-κB signaling drives progressive tissue damage, impairs regeneration, and increases the risk of age-related diseases such as atherosclerosis, diabetes, osteoarthritis, and neurodegenerative disorders. This review discusses the roles of IL-6 and NF-κB in the mechanisms of inflammaging and evaluates their potential as therapeutic targets to slow aging and prevent age-associated diseases.