Risk of having a child with birth defects when both husband and wife carry the disease gene

At first, she took her child to many places for examination but no illness was detected, “thinking it was because she was sick during pregnancy”. After giving birth to their second child, the couple was devastated when their child showed the same symptoms as their first child.

Over the past ten years, the whole family has been running around, taking their child to the doctor but cannot find the cause. Looking at her two children, the older they get, the sicker they become, with slow motor development and mental retardation, making the mother skinny, “like skin and bones”, insomnia, and stress. There are 4 adults in the family, but Mr. Ky is almost the only one working, and his finances are exhausted.

“The fear of giving birth to a sick child made me want to give up on life. Luckily, my husband encouraged me so we both tried to save up to rely on medicine,” she said.

In early 2022, the couple submitted their application to the Post Office Hospital and were fortunately selected for financial support for in vitro fertilization (IVF). Dr. Nguyen Thi Nha, Director of the Reproductive Support Center, who directly examined Ms. Hue, ordered in-depth genetic tests. The results revealed that Ms. Hue and her husband both carried the genetic disease gene for congenital muscular dystrophy.

Congenital muscular dystrophy is a very rare recessive genetic disease caused by mutations in genes. As of 2023, approximately 50 cases have been reported in the literature. The disease is inherited as an autosomal recessive trait, so when both parents carry the gene at the same time, the risk of having a child with the disease for each natural pregnancy is 25%. The disease is characterized by early-onset hypotension, muscle weakness, delayed motor development, loss of ability to walk over time, accompanied by intellectual disability of varying severity, and other neurological problems. language skills, as well as autistic traits, behavioral problems and cardiomyopathy…

“The only solution is in vitro fertilization (IVF) combined with pre-implantation genetic screening tests on embryos,” said Dr. Nha.

As a result, the couple transferred 7 embryos and found two healthy embryos. Ms. Hue conceived right in the first embryo transfer, the pregnancy was not abnormal. At the end of June 2023, a healthy baby boy was born.

Although they had thought of not having children because both husband and wife carried the Thalassemia gene, Mr. Thinh (30 years old) and Ms. Nga (27 years old) still tried to find opportunities. The couple got married in 2017 but had no good news. The test results showed that both were healthy carriers of the Thalassemia gene. Dr. Vuong Vu Viet Ha, Deputy Director of the Center for Reproductive Support, advised the couple to do in vitro fertilization (IVF), then perform pre-implantation genetic screening on the embryo to have a healthy child.

After that, Ms. Nga had 15 embryos, screened 6 embryos, the result was only two healthy embryos, two diseased embryos and two embryos carrying the Thalassemia gene. The doctor transferred a healthy embryo into the uterus and was lucky to succeed on the first try. In June 2021, the couple welcomed a healthy daughter.

“The day the baby cried, all the worries and resentments of the couple were relieved. The joy cannot be expressed in words,” Mr. Thinh said.

Currently, Vietnam does not have statistics on how many couples carry the disease gene and are at risk of having children with birth defects. However, statistics from the Ministry of Health show that our country records one million children being born each year, of which 22,000-30,000 have birth defects. By 2023, Vietnam will have about 1.2 million disabled children aged 0-17, accounting for 3.1%. The most common types of disabilities in children are motor and language. The main cause of disability in children is congenital disability, accounting for about 55-65%, the rest is due to illness.

Genetic disease genes are latent in the human body and are passed from generation to generation. More worryingly, when both parents carry the disease gene, the probability of the child being born with a genetic disease is about 25%. In some diseases, only the mother carrying the disease gene can pass the disease and the disease gene to the child. About 30% of children with genetic diseases do not live past the age of 5.

Children with disabilities often have low self-esteem about their condition and are not treated equally. In addition, children have a short life expectancy due to accompanying diseases. Some other children can also develop skills similar to normal children, such as children with slow motor and language development compared to their age, mild cerebral palsy with hemiplegia or paralysis of both legs.

Dr. Vuong Vu Viet Ha, Deputy Director of the Reproductive Support Center, Post Office Hospital, advised couples to have prenatal checkups when planning to get pregnant, and pregnant women to have prenatal screening. In particular, pregnant women who need special attention are women over 35 years old, carrying multiple pregnancies, with a history of chromosomal or genetic abnormalities. People with underlying diseases such as high blood pressure, thyroid disease, diabetes, a history of miscarriage, stillbirth, premature birth, and birth defects also need to be examined for screening and give birth to healthy children.

Currently, the proactive method of preventing genetic diseases relies on gene technology combined with advanced assisted reproductive techniques. From July 1 to September 30, the Post Office Hospital organized an Infertility and Sterility Consultation Day, and provided financial support for in vitro fertilization (IVF) for 80 couples with genetic diseases and in particularly difficult circumstances.