image: Wang Jian, Heru Dharmadi Wijaya, Ockti Palupi Rahayuningtyas, Azhar Jaya, and Dra. Lucia Rizka Andalucia.
Credit: BGI Genomics
On February 5, 2025, BGI Genomics' Indonesian joint venture, PT Naleya Genomik Indonesia (NGI), officially signed a partnership agreement for research collaboration with Rumah Sakit Anak dan Bunda - National Women and Children Health Center (RSAB) Harapan Kita. The collaboration focuses on the extended Non-Invasive Prenatal Test (NIPT-Pro) and Copy Number Variation Sequencing (CNVseq) to advance prenatal genetic screening technology in Indonesia.
The agreement was signed by Dr. Ockti Palupi Rahayuningtyas, MPH, MH.Kes, President Director of RSAB Harapan Kita, and Heru Dharmadi Wijaya, President Director of NGI. The signing was also witnessed by Dr. Dra. Lucia Rizka Andalucia, Apt, M. Pharm, MARS, Director General of Pharmaceuticals and Medical Devices, Dr. Azhar Jaya, S.H., SKM, MARS, Director General of Advanced Health Services, and Wang Jian, Co-Founder and Chairman of BGI Group.
"This research is designed to apply NIPT-Pro, a genetic test based on massively parallel sequencing technology, for detecting chromosomal aneuploidy and Copy Number Variations (CNV) among pregnant women in Indonesia. In its implementation, high-risk NIPT-Pro results, along with ultrasound findings indicating potential risks, will be further confirmed using CNV sequencing (CNVseq) technology on the amniotic fluid of the respective pregnant women," said Heru Dharmadi.
The CNVseq technology is Indonesia's first prenatal diagnostic innovation, designed to provide comprehensive detection of chromosomal abnormalities, including aneuploidy, triploidy, and various types of CNV disorders. With a high level of accuracy, this technology plays a crucial role in supporting precise clinical decision-making to safeguard maternal and fetal health.
Dr. Ockti stated, "We welcome this collaboration as it brings significant benefits to pregnant women in Indonesia by enabling early detection of fetal genetic disorders. We hope this research serves as the first step toward developing more advanced, accurate, and rapid prenatal screening and diagnostics, positioning NIPT as an alternative modality for first-tier genomic screening for all pregnant women."
This initiative aligns with the healthcare transformation pillars promoted by the Ministry of Health of the Republic of Indonesia, particularly the advancement of healthcare technology. Through this innovation, pregnant women in Indonesia are expected to gain access to safer, more accurate, comprehensive, and affordable prenatal screening methods, enabling better anticipation and management of genetic disorders during and after pregnancy.
Non-Invasive Prenatal Testing (NIPT) is a genetic screening method that detects chromosomal abnormalities like Down syndrome, Edwards syndrome, and Patau syndrome as early as the 10th week of pregnancy. It analyzes fetal DNA in the mother’s blood using high-throughput sequencing technology. NIPT-Pro, as an extended version, allows for the detection of additional chromosomal abnormalities, including microdeletion and microduplication syndromes.
Through this research, BGI Genomics and RSAB Harapan Kita are committed to delivering more accurate and accessible prenatal diagnostic innovations for a broader population of pregnant women across Indonesia.
About BGI Genomics
BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Its services cover more than 100 countries and regions and involve more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) officially began trading on the Shenzhen Stock Exchange.