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All Journal journal of internal medicine E-Journal Obstetric & Gynecology Udayana Majalah Obstetri dan Ginekologi The Indonesian Biomedical Journal Public Health of Indonesia Indonesian Journal of Obstetrics and Gynecology (Majalah Obstetri dan Ginekologi Indonesia) ISM (Intisari Sains Medis) : Jurnal Kedokteran Bioscientia Medicina : Journal of Biomedicine and Translational Research Indonesian Journal of Perinatology Journal of Global Pharma Technology
Anak Agung Ngurah Jaya Kusuma
Department Of Obstetrics & Gynaecology, Faculty Of Medicine, Universitas Udayana-Sanglah General Hospital, Denpasar, Bali
Biochemistry, Genetics & Molecular Biology Health Professions Immunology & microbiology Medicine & Pharmacology Neuroscience Nursing Public Health

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Non-Invasive Prenatal Testing with Next Generation Sequencing Methods in Birth Defect Pregnancy: A Pilot Study Anom Suardika; Anak Agung Ngurah Jaya Kusuma; Ni Gusti Ayu Manik Ermayanti; Endang Sri Widiyanti; I Gusti Ngurah Agung Satria Wibawa; Divika Silvana; Anak Agung Gede Raka Budayasa; Ni Nyoman Ayu Dewi; I Made Jawi; H. Sunny Sun; Yen-An Tang
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
Promoter Methylation and Low Placental Expression of Metalloproteinase (MMP)-9, Human Leukocyte Antigen (HLA)-G, Vascular Endothelial Growth Factor (VEGF), and Highly Soluble Endoglin (sEng) as Risk Factors for Preeclampsia Kusuma, Anak Agung Ngurah Jaya; Darmayasa, I Made; Mulyantari, Ni Kadek; Mayasari, Ni Nyoman Wistya Tri; Sutandi, Chatrine; Bay, Godefridus Paulo; Nugraha, Cokorda Gde Angga Ary
The Indonesian Biomedical Journal Vol 18, No 1 (2026)
Publisher : The Prodia Education and Research Institute (PERI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18585/inabj.v18i1.3921

Abstract

BACKGROUND: Dysregulated expressions of metalloproteinase (MMP)-9, human leucocyte antigen (HLA)-G, vascular endothelial growth factor (VEGF), and soluble endoglin (sEng) reflect impaired angiogenesis, immune tolerance, endothelial function, and trophoblast invasion that characterize abnormal placental development in preeclamptic (PE) pregnancies. However, the role of promoter methylation of these markers in linking the pathways to altered protein expression remains unclear. Hence, this study compared promoter methylation and placental expression of MMP-9, HLA-G, VEGF, and sEng between women with PE and normotensive pregnancies, and evaluate their diagnostic performance as potential biomarkers.METHODS: This case–control study included 30 women with PE and 30 controls. Placental tissue samples were collected within 15 minutes postpartum. Placental promoter methylation was assessed using methylation-specific polymerase chain reaction (PCR), and protein expression was measured using enzyme-linked immunosorbent assay (ELISA). Group differences were analyzed, diagnostic accuracy was evaluated using receiver operating characteristic (ROC) curves, and associations were expressed as adjusted odds ratios (AOR).RESULTS: Compared with controls, placentas from women with PE significantly showed higher methylation of HLA-G (58.9% vs. 37.3%) and sEng (6.7% vs. 4.1%), and lower methylation of VEGF (30.4% vs. 48.1%) and MMP-9 (36.1% vs. 44.9%). Expression of MMP-9, HLA-G, and VEGF was significantly reduced, while sEng expression was increased in PE. Multivariate analysis identified HLA-G hypermethylation (AOR 5.36), VEGF hypomethylation (AOR 8.55), sEng methylation (AOR 4.57), low expression of MMP-9, HLA-G, and VEGF, and high sEng expression (AOR 4.77) as independent predictors of PE. sEng expression demonstrated the best discrimination (AUC 0.835), followed by sEng methylation (AUC 0.785) and HLA-G methylation (AUC 0.774).CONCLUSION: PE is associated with distinct placental methylation–expression alterations, with sEng- and HLA-G–related markers showing the strongest diagnostic value.KEYWORDS: preeclampsia, DNA methylation, angiogenesis, MMP-9, HLA-G, sEng, placenta, epigenetics
Co-Authors Anak Agung Gede Raka Budayasa Anom Suardika Anom Suardika Anom Suardika Arresta Vitasatria Suastika Bay, Godefridus Paulo DARMAYASA, K. Divika Silvana Duarsa, Dyah Paramita Endang Sri Widiyanti Evert Solomon Pangkahila Gde Bagus Rizky Kornia GUNUNG, K. H. Sunny Sun I Dewa Made Sukrama I Gde Raka Widiana I Gede Mega Putra I Gede Mega Putra I Gusti Bagus Indrajaya I Gusti Ngurah Agung Satria Wibawa I Gusti Putu Mayun Mayura I Ketut Suwiyoga I Made Bakta I Made Darmayasa I Made Darmayasa I Made Jawi I Nengah Sujaya I Nyoman Gede Budiana I Nyoman Hariyasa Sanjaya I Wayan Artana Putra I Wayan Megadhana KARKATA, M. K. Ketut Suastika Leony Lim LUH MERTASARI . Luh Seri Ani Mantik AN Marta, Kadek Fajar Mayasari, Ni Nyoman Wistya Tri Mona Mariana Muhammad Freddy Candra Sitepu Ni Gusti Ayu Manik Ermayanti Ni Kadek Mulyantari Ni Nengah Dwi Fatmawati Ni Nyoman Ayu Dewi Nugraha, Cokorda Gde Angga Ary Pradnyana, I Wayan Agus Surya Putra, Wayan Artana Putu Doster Mahayasa Sutandi, Chatrine Vidya Saraswati Putri Duarsa Widi, Made Yudha Ganesa Wikantyas William William Wiradnyana, Anak Agung Putra Yen-An Tang