Finding the 'culprit' causing many generations to suffer from cleft lip and palate

After three pregnancies, all of which resulted in fetuses with cleft lip and palate and other abnormalities (two of which ended in termination), a woman in Quang Tri gave birth to a healthy baby for the first time, without any abnormalities of the lip or palate, thanks to the application of a new technique.

Genetic diagram of 4 generations, in which 3 generations have people with cleft lip and palate - Photo: Provided by Doctor

This is one of hundreds of couples who, thanks to the application of the technique of selecting embryos that do not carry the disease gene by preimplantation genetic testing (PGT-M), welcomed a healthy baby even though unfortunately many people in the family carry the disease due to a single-gene genetic abnormality.

Joy after the tragedy of multiple generations of cleft lip and palate

Speaking with Tuoi Tre Online on March 6, Dr. Ho Manh Tuong - professional consultant of the My Duc Reproductive Support Unit, My Duc Hospital, general secretary of the Ho Chi Minh City Association of Reproductive Endocrinology and Infertility - added that his wife's family history includes many generations of cleft lip and cleft palate.

The couple decided to travel from Quang Tri to Ho Chi Minh City to find the cause.

With the support of modern genetic diagnostic techniques, the specialized genetics team of Master Nguyen Bao Tram has found that the "culprit" causing cleft lip and palate and many other defects through many generations in this family is a hidden, evil gene mutation.

Identifying the gene mutation that causes the disease is extremely difficult. The team of genetic experts had to use all the most advanced genetic diagnostic techniques available today, and consult the most updated databases in the world , but still could not identify the gene that causes the disease.

It was not until they compared the DNA of family members who also had the disease with in-depth tests that the team of experts discovered the "culprit" gene.

Because the couple lived in Quang Tri and travel was expensive, the doctors advised them to return to Da Nang for in vitro fertilization (IVF).

Doctors at My Duc Hospital in collaboration with Family Hospital in Da Nang conduct genetic screening tests for embryos, IVF and PGT-M embryo genetic testing to eliminate embryos carrying disease genes.

However, a second in vitro fertilization is required to find a normal embryo that does not carry the disease gene.

The patient had an embryo transfer, became pregnant, and the entire pregnancy was healthy, with no abnormalities recorded on ultrasound. After four pregnancies, this was the first time the couple welcomed a healthy baby, weighing 3.7 kg, with no abnormalities of the lip or palate.

"It was a family tragedy that affected many generations. After a period of living in confusion, fear, and despair, the family and clan now welcome boundless joy. We, the professionals, are also filled with happiness. It's truly touching," Dr. Tuong shared.

A group of doctors, embryologists and genetic counselors discussed and agreed on the best treatment for the patient - Photo: Provided by the hospital

Medical achievements are to save people and the unfortunate fates.

PGT-M technique was honored as Vietnam Medical Achievement 2023. According to Dr. Tuong, this is a meaningful achievement because of the coordination between experts and new techniques and technologies in two fields: reproductive support and medical genetics.

The achievement shows that Vietnamese experts have mastered technology and can use it skillfully and flexibly to solve difficult cases, even genetic diseases that have not been recognized by the world.

Not only that, technology is transferred and coordinated with local hospitals so that people living far away can still access modern medical technology.

Especially helps couples give birth to healthy children without defects, and helps eliminate bad disease-causing genes from the community, not passing them on to future generations.

“Medical achievements are not for receiving awards but to help people and the unfortunate. Nothing is easy but valuable. The most difficult thing is to analyze and find the gene that causes abnormalities in an unknown disease,” Dr. Tuong concluded.

550 cases of PGT-M technique have 250 healthy babies born

PGT-M technique at My Duc Hospital has been deployed since 2020 and has so far screened for more than 100 different rare genetic diseases.

By the end of 2024, about 700 couples had undergone genetic screening for the cause, more than 550 PGT-M cases had been performed, and about 250 healthy babies had been born.

PGT-M technology has lit up new hope for couples carrying disease genes that can be passed on to the next generation, giving them the opportunity to give birth to healthy little angels and eliminating the transmission of disease genes to the next generations.

Source: https://tuoitre.vn/tim-ra-thu-pham-gay-nhieu-the-he-bi-sut-moi-che-vom-20250306185402874.htm