Non-Invasive Prenatal Testing with Next Generation Sequencing Methods in Birth Defect Pregnancy: A Pilot Study
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...
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| Language: | English |
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Secretariat of The Indonesian Biomedical Journal
2025-08-01
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| Series: | Indonesian Biomedical Journal |
| Online Access: | https://inabj.org/index.php/ibj/article/view/3753 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Anom Suardika |
| collection | DOAJ |
| description | 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 |
| format | Article |
| id | doaj-art-63ba9866dead4473a8febe2a147a85da |
| institution | Kabale University |
| issn | 2085-3297 2355-9179 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Secretariat of The Indonesian Biomedical Journal |
| record_format | Article |
| series | Indonesian Biomedical Journal |
| spelling | doaj-art-63ba9866dead4473a8febe2a147a85da2025-08-26T04:21:47ZengSecretariat of The Indonesian Biomedical JournalIndonesian Biomedical Journal2085-32972355-91792025-08-011744071510.18585/inabj.v17i4.3753653Non-Invasive Prenatal Testing with Next Generation Sequencing Methods in Birth Defect Pregnancy: A Pilot StudyAnom Suardika0Anak Agung Ngurah Jaya Kusuma1Ni Gusti Ayu Manik Ermayanti2Endang Sri Widiyanti3I Gusti Ngurah Agung Satria Wibawa4Divika Silvana5Anak Agung Gede Raka Budayasa6Ni Nyoman Ayu Dewi7I Made Jawi8H. Sunny Sun9Yen-An Tang10Fertility and Reproductive Endocrinologi Division, Department of Obstetrics and Gynecology, Prof. Dr. I.G.N.G. Ngoerah General Hospital/Faculty of Medicine, Universitas Udayana, Jl. Diponegoro, Denpasar 80113Maternal Fetal Medicine Division, Department of Obstetrics and Gynecology, Prof. Dr. I.G.N.G. Ngoerah General Hospital/Faculty of Medicine, Universitas Udayana, Jl. Diponegoro, Denpasar 80113Faculty of Mathematics and Natural Sciences, Universitas Udayana, Jl. Kampus Bukit Jimbaran, Denpasar 80361Maternal Fetal Medicine Division, Department of Obstetrics and Gynecology, Universitas Udayana Hospital/Faculty of Medicine, Universitas Udayana, Jl. Rumah Sakit Unud, Denpasar 80361Department of Obstetrics and Gynecology, Faculty of Medicine, Universitas Udayana, Jl. P.B. Sudirman, Denpasar 80232Department of Obstetrics and Gynecology, Faculty of Medicine, Universitas Udayana, Jl. P.B. Sudirman, Denpasar 80232Maternal Fetal Medicine Division, Department of Obstetrics and Gynecology, Sanjiwani Hospital, Jl. Ciung Wanara No.2, Gianyar 80511Department of Biochemistry, Faculty of Medicine, Universitas Udayana, Jl. P.B. Sudirman, Denpasar 80232Department of Pharmacology, Faculty of Medicine, Universitas Udayana, Jl. P.B. Sudirman, Denpasar 80232Institute of Molecular Medicine, College of Medicine, National Cheng Kung University/Center for Genomic Medicine, National Cheng Kung University, Shengli Rd. 3F. No. 367, Tainan 704Institute of Molecular Medicine, College of Medicine, National Cheng Kung University/Center for Genomic Medicine, National Cheng Kung University, Shengli Rd. 3F. No. 367, Tainan 704BACKGROUND: 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 testinghttps://inabj.org/index.php/ibj/article/view/3753 |
| spellingShingle | 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 Non-Invasive Prenatal Testing with Next Generation Sequencing Methods in Birth Defect Pregnancy: A Pilot Study Indonesian Biomedical Journal |
| title | Non-Invasive Prenatal Testing with Next Generation Sequencing Methods in Birth Defect Pregnancy: A Pilot Study |
| title_full | Non-Invasive Prenatal Testing with Next Generation Sequencing Methods in Birth Defect Pregnancy: A Pilot Study |
| title_fullStr | Non-Invasive Prenatal Testing with Next Generation Sequencing Methods in Birth Defect Pregnancy: A Pilot Study |
| title_full_unstemmed | Non-Invasive Prenatal Testing with Next Generation Sequencing Methods in Birth Defect Pregnancy: A Pilot Study |
| title_short | Non-Invasive Prenatal Testing with Next Generation Sequencing Methods in Birth Defect Pregnancy: A Pilot Study |
| title_sort | non invasive prenatal testing with next generation sequencing methods in birth defect pregnancy a pilot study |
| url | https://inabj.org/index.php/ibj/article/view/3753 |
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