Prenatal genetic diagnosis of retinoblastoma in two Vietnamese families

Authors

  • Pham Thi Minh Chau Vietnam National Eye Hospital, 85 Ba Trieu Street, Hai Ba Trung District, Hanoi, Vietnam
  • Trinh Hong Anh Vietnam Military Medical University, 160 Phung Hung Street, Ha Dong City, Hanoi, Vietnam
  • Luong Thi Lan Anh Hanoi Medical Hospital, 01 Ton That Tung Street, Dong Da District, Hanoi, Vietnam
  • Nguyen Thuy Duong Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet Road, Cau Giay District, Hanoi, Vietnam
  • Nguyen Hai Ha Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet Road, Cau Giay District, Hanoi, Vietnam

DOI:

https://doi.org/10.15625/1811-4989/17000

Abstract

Retinoblastoma (Rb) is a rare cancer that develops from the layer of cells in the retina. A germline mutation in the RB1 gene is a high risk factor for Rb. We performed prenatal genetic diagnosis on two pregnant women who had had a child with hereditary Rb and continued checking their newborns' conditions after giving birth. Ultrasound-guided amniocentesis, amniotic cell culture, and Sanger sequencing for the specific RB1 region were used. The analysis results demonstrated that one of the amniotic cell samples was found to carry a genetic mutation that causes the disease, inherited from the father. Neonatal screening confirmed that the corresponding newborn of the amniotic cell sample with the causative gene mutation developed binocular retinoblastoma. Prenatal genetic testing on pregnant women in families with a risk of having a child with retinoblastoma should be performed to prepare a clinical diagnosis and treatment plan for the neonate.

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Published

2022-06-28

How to Cite

Minh Chau, P. T., Hong Anh, T., Lan Anh, L. T., Thuy Duong, N., & Hai Ha, N. (2022). Prenatal genetic diagnosis of retinoblastoma in two Vietnamese families. Vietnam Journal of Biotechnology, 20(2), 225–230. https://doi.org/10.15625/1811-4989/17000

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Articles