Norrie - Silent genetic disease and technical advances in early prevention

Genetic disease with risk of permanent loss of sight

Norrie Disease is a rare genetic disorder involving the eye, characterized by abnormal development of retinal blood vessels. Norrie occurs due to mutations in the NDP gene (located on the X sex chromosome) which not only causes congenital blindness but also leads to intellectual and motor retardation...; clearly manifested in male infants.

Genetic diseases affect the health and development of future generations (Photo: istock).

Because of the rarity of Norrie disease, the incidence rate is still unknown. The disease progresses complexly and is difficult to diagnose when symptoms vary between patients with the same gene mutation. In particular, many cases do not know they carry the disease gene until they get married and have children with abnormal symptoms.

Preimplantation genetic testing opens up hope for healthy babies

According to the Ministry of Health , it is estimated that every year in Vietnam, more than 41,000 children are born with congenital disabilities, leading to slow intellectual and motor development. To prevent children from being born with Norrie disease or other genetic diseases, many measures have been put in place such as premarital health screening, in vitro fertilization, prenatal screening, postnatal screening, etc.

Among them, preimplantation genetic testing (PGT) is a medical advance that helps detect genetic abnormalities in embryos at an early stage.

Doctor Nguyen Binh Duong - Head of Hong Ngoc - Phuc Truong Minh Center for Reproductive Medicine and Infertility said: "With the development of the in vitro fertilization industry, especially the presence of pre-implantation genetic testing (PGT) technology, there is enough ability to clearly identify the cause of the disease, find and remove abnormal gene segments, and prevent genetic risks."

Preimplantation genetic testing helps diagnose chromosomal abnormalities at an early stage.

To do embryo screening, the couple needs to do in vitro fertilization. Eggs and sperm are combined to form embryos. 3-5 cells of the embryo will be tested, the purpose is to find information about genetic health from which to choose good embryos, increasing the rate of giving birth to healthy children.

IVF Department in collaboration with Hong Ngoc Gene Center: Eliminate genetic "darkness", successfully welcome healthy baby

The family of Mr. Nam and Ms. Tien (Me Linh, Hanoi ) is a typical example of the arduous journey of parents who unfortunately carry a rare genetic eye disease. The journey to find a healthy child goes through many challenges - but with strong faith and the will to never give up, they have continued to move forward.

After 7 years, when their child was born one month ago and had permanent vision loss and mental retardation, with encouragement from family and friends, Tien and her husband were brave again and decided to go to Hong Ngoc Phuc Truong Minh Center for Reproductive Medicine and Infertility to seek hope of having a healthy child.

Doctor Nguyen Binh Duong received the examination and made a treatment plan for the family.

Upon examination, Dr. Binh Duong commented: "This is a complicated case where the problem is not only between the couple but also the family history." Both Ms. Tien's child and two grandchildren are congenitally blind and have slow intellectual and motor development.

Realizing the high rate of genetic diseases, IVF doctors and experts from Hong Ngoc Gene Center developed a plan to determine the genetic cause, then performed IVF (in vitro fertilization) combined with pre-implantation testing (PGT).

However, the journey was still challenging because the first destination was to precisely localize the abnormal gene segment. After two large gene sequencing tests that took up to a year, thousands of hours of looking up each gene code, the team of doctors and experts finally found the answer, the family's case was Norrie disease - a rare genetic disease related to the eyes, caused by a deletion mutation in the NDP gene phase on the X chromosome.

Identify and remove abnormal gene segment, family welcomes healthy baby.

As if the knot had been untied, Ms. Tien continued to enter the IVF cycle combined with pre-implantation genetic testing. Ms. Tien was stimulated to create 8 embryos, of which 2 were screened for gene mutations. The embryo transfer was successful, the pregnancy went smoothly, and she gave birth to a healthy baby. 3 months after birth, she continued to be monitored, and the baby's health check-up indicators are currently normal.

Performing in vitro fertilization combined with embryo screening is the optimal solution to help families escape the "darkness" of genetics and welcome healthy children. Therefore, if parents suspect that their family has a genetic disease, they can go to a reputable facility for in-depth consultation. Hong Ngoc Phuc Truong Minh Center for Reproductive Medicine and Infertility coordinates with the Gen Center to provide personalized treatment plans, accompanying families on the journey to having healthy children.

Source: https://dantri.com.vn/suc-khoe/norrie-benh-di-truyen-am-tham-va-buoc-tien-ky-thuat-phong-ngua-som-20250520203435034.htm