Ms. Lai and her husband, residing in Australia, returned to Vietnam for treatment after three unexplained failed in vitro fertilization (IVF) and embryo transfer attempts. Genetic testing at the Center for Reproductive Assistance, Tam Anh General Hospital Ho Chi Minh City (IVF Tam Anh TP HCM), revealed that both are healthy carriers of the thalassemia gene.

Alpha-Thalassemia is an autosomal recessive genetic disorder that leads to reduced or deficient synthesis of alpha-globin chains in hemoglobin. Gene carriers may be completely healthy or exhibit mild hematological changes, often unaware they carry the gene.

According to Doctor Dinh Thi Ngoc Ngan from IVF Tam Anh TP HCM, children born with compound heterozygous alpha-Thalassemia from both parents may experience mild to moderate anemia, potentially requiring long-term blood transfusions. Therefore, before beginning IVF treatment, it is crucial to accurately identify the genetic variants in both partners and evaluate the genetic risk to their future children.

Doctor Ngan consults Ms. Lai and her husband about the genetic risk of the alpha-Thalassemia gene. *Photo: Tam Anh General Hospital*

Ms. Lai's anti-Müllerian hormone (AMH) ovarian reserve index was slightly reduced to approximately 1,6 ng/mL. Her husband had obstructive azoospermia, a condition where no sperm is present in the ejaculate, so doctors performed percutaneous epididymal sperm aspiration (PESA) to retrieve sperm for in vitro fertilization.

Doctors recommended oocyte pooling to accumulate a sufficient number of oocytes and create embryos. This was followed by preimplantation genetic testing for aneuploidy (PGT-A) to screen for chromosomal number abnormalities and preimplantation genetic testing for monogenic disorders (PGT-M) to screen for single-gene disorders. After three cycles, the couple obtained 5 day-5 embryos and 4 day-6 embryos. Genetic testing revealed that two embryos had abnormalities related to alpha-Thalassemia. The remaining embryos, free of genetic abnormalities, were cryopreserved in preparation for transfer.

Concurrently with the embryo biopsy, doctors performed hysteroscopy to directly examine the uterine cavity. Ms. Lai also received treatment for endometriosis to optimize the uterine environment for embryo implantation.

Ms. Lai became pregnant on the first embryo transfer. At 12 weeks of pregnancy, she returned to Australia for continued prenatal care and has since given birth to a healthy child.

Vietnam currently has over 10 million thalassemia gene carriers. Approximately 8,000 children are born with the disease each year, with about 2,000 severe cases requiring long-term treatment. Doctor Ngan advises couples to proactively undergo pre-pregnancy health check-ups and genetic testing when necessary. If both partners carry variants that could transmit the disease to their child, the family should seek genetic counseling to determine specific risks and choose appropriate reproductive options.

In vitro fertilization combined with preimplantation genetic testing can help select embryos free of genetic diseases for uterine transfer, leading to healthy births.

Ha Thanh

* Patient's name has been changed