TY - JOUR AU - Minh Chau, Pham Thi AU - Hong Anh, Trinh AU - Lan Anh, Luong Thi AU - Thuy Duong, Nguyen AU - Hai Ha, Nguyen PY - 2022/06/28 Y2 - 2024/03/29 TI - Prenatal genetic diagnosis of retinoblastoma in two Vietnamese families JF - Vietnam Journal of Biotechnology JA - Vietnam J. Biotechnol. VL - 20 IS - 2 SE - Articles DO - 10.15625/1811-4989/17000 UR - https://vjs.ac.vn/index.php/vjbt/article/view/17000 SP - 225-230 AB - <p>Retinoblastoma (Rb) is a rare cancer that develops from the layer of cells in the retina. A germline mutation in the <em>RB1</em> 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 <em>RB1</em> 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.</p> ER -