Giving birth to a healthy child when both husband and wife carry the thalassemia gene

Seven years together, more than 5 months of living together, Quyen and her husband were happy when they quickly had their first life. Before getting married, both husband and wife had premarital screening and learned that they both carried the recessive thalassemia gene (congenital hemolytic disease), but they still decided to get married and hoped for a miracle that their child would not carry the disease gene.

During her first pregnancy, at 16 weeks, Ms. Q. was ordered to undergo amniocentesis to screen the fetus. "The results left us speechless. At 20 weeks, I had to terminate the pregnancy because the doctor said the fetus had a very poor prognosis," Ms. Quyen shared.

After her first failed natural pregnancy, Quyen once again lost the chance to become a mother at 21 weeks of pregnancy. "The second pregnancy was in the same condition as the first, I was in great pain," Quyen said, choking up.

Having two consecutive natural pregnancies and losing a baby at 20 weeks left Ms. Quyen in a long-term psychological crisis. To have a healthy baby, there was no other way but for her to have a screening, but the cost was a huge pressure for her family.

Dr. Bui Thi Phuong Hoa, Head of Scientific Research and Training Department, Genetics Doctor, Hanoi Andrology and Infertility Hospital, said that in cases where both husband and wife carry the thalassemia gene, the couple can choose to actively prevent the disease by in vitro fertilization and embryo testing (IVF/PGT-M) or early prenatal diagnosis (by chorionic villus sampling or amniocentesis) to reduce the risk of having a child with the disease.

Giving birth to a healthy child when both husband and wife carry the thalassemia gene photo 1

Sweet fruit after seven years of infertility for a couple carrying the congenital hemolytic gene.

Embryo testing is a method of testing on embryo biopsy samples to detect genetic abnormalities in the embryo before transferring it to the mother's uterus. Embryo testing will help eliminate embryos with genetic abnormalities, reducing the risk of giving birth to children with genetic diseases.

"In the case that both husband and wife carry the thalassemia gene like Ms. Quyen and are at risk of having a child with the disease, choosing IVF and embryo testing - PGT-M (Preimplantation genetic testing for monogenic disorder) will proactively give birth to a healthy child," said Dr. Hoa.

After many years of mental crisis, along with all the money saved for in vitro fertilization to cover when her husband had a traffic accident, they did not dare to go to the doctor again.

In the midst of what seemed like the most desperate moment, a “lifebuoy” suddenly appeared. In 2022, while reading information on the internet, Ms. Quyen learned about the Golden Week program of the Hanoi Andrology and Infertility Hospital - which offers a free screening package for embryo testing with rare disease genes. Half believing, half doubting, the couple immediately asked relatives outside Hanoi to go to the hospital to ask about this program.

In May 2022, Quyen and her husband began going to the hospital for examination and application. In July 2022, the call informing them that they were one of 20 couples receiving support for embryo testing made both of them cry in faith and emotion. For the first time in many years, they felt their dream of becoming parents was gradually becoming a reality.

Thanks to the hospital's support package, Quyen and her husband were full of hope for their journey to find a child this time. "The entire IVF process that day was smooth. I created 12 embryos, then took them for testing and the results showed that 5 embryos had a chance to give birth to a healthy baby. My husband and I were moved to tears because for the first time we had a basis to believe that we would bring our baby home. The feeling was completely different from the previous natural pregnancies, when we only dared to hope in fear," Quyen recalled.

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Adorable little angel born healthy thanks to embryo screening.

In October 2023, the most awaited luck came, the doctor transferred the beautiful little embryo into Ms. Quyen's body. After 10 days of embryo transfer, the two-line stick appeared clearly - "a healthy life" was starting to form in her body.

Just like that, Ms. Quyen's 9 months of pregnancy passed smoothly, her baby developed healthily, comforting her from the difficulties and pain she had to go through in previous pregnancies. And then, in July 2024, baby Gao's cry echoed in the delivery room, like a happy song ending the years of waiting in tears.

Now, the adorable, healthy baby Gao with a hearty laugh in the small house is proof of the saying: "There is always light at the end of the tunnel, miracles also take time" that Ms. Quyen was encouraged by the doctors at the Hanoi Andrology and Infertility Hospital during the treatment process.

Understanding the difficult circumstances of infertile families, every year Hanoi Andrology and Infertility Hospital organizes the program "Golden Week - Nurturing Happiness". This year, with the theme "Golden Opportunity for the Dream of Finding a Child", from May 12 to May 25, Hanoi Andrology and Infertility Hospital will continue to accompany infertile parents with many preferential programs.

Accordingly, from May 12 to 25, all patients coming for examination during this time will receive free consultation, ultrasound, semen analysis, and hysterosalpingography; reduced testing costs, and in vitro fertilization support.

"We will also reduce the cost of in vitro fertilization by 50%, applicable to couples who have performed IVF but failed (no embryos and no children in the most recent IVF cycle) and provide free 20 packages of single-gene pathology embryo testing: Thalassemia, hemophilia, brittle bone disease, tuberous sclerosis, metabolic disorders, spinal muscular atrophy, Duchenne muscular dystrophy, chondrodysplasia, phenylketonuria, primary immunodeficiency, neurofibromatosis... and some other single-gene genetics," Dr. Hoa shared.

Source: https://nhandan.vn/sinh-con-khoe-manh-khi-ca-2-vo-chong-deu-mang-gene-thalassemia-post877880.html