Article Per Year (5 Year)
p-Index From 2020 - 2025
1.945
P-Index
This Author published in this journals
All Journal E-Jurnal Medika Udayana Jurnal Kesehatan Andalas Indonesian Journal of Biotechnology The Indonesian Biomedical Journal
Ni Nyoman Ayu Dewi
Unknown Affiliation
Biochemistry, Genetics & Molecular Biology Health Professions Immunology & microbiology Materials Science & Nanotechnology Medicine & Pharmacology Public Health

Published : 11 Documents Claim Missing Document
Claim Missing Document
Check
Articles

Found 11 Documents
Search

 1   2 
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
Co-Authors Anak Agung Ngurah Satya Pranata Anom Suardika Aprillia T amitha Hoata Badri, Amelia A. Bramantya, Putu Arya Rahadi Budayasa, Anak Agung Gede Raka Christian Chandra Desak Made Wihandani Didik Tulus Subekti Endang Sri Widiyanti I G. P. Supadmanaba I GUSTI AYU MANIK ERMAYANTI I Made Jawi I Made Mahayasa I W. Sudarsa I Wayan Gede Sutadarma I Wayan Gede Sutadarma I Wayan Juli Sumadi I Wayan Surudarma Ida Ayu Ika Wahyuniari Kendarini, Ni Putu Yenny Kusuma, Anak Agung Ngurah Jaya Manuaba, Ida Bagus Tjakra Wibawa Ni Kadek Ariesta Dwijayanthi Ni Kadek Vani Apriyanti Pertiwi, Putu Febry Krisna Prawitha Pinatih, Putu Teja Prayuda, Prayuda Ruma, I Made Winarsa Silvana, Divika Sun, H. Sunny Tang, Yen-An Tjokorda Gde Bagus Mahadewa Wayan T. Artama1, Wayan T. Wibawa, I Gusti Ngurah Agung Satria