Prenatal screening tests to detect serious genetic diseases

Ms. BTK (22 years old, from Hoa Binh ) recently discovered that she and her husband carried the Thalassemia gene through non-invasive prenatal screening test (NIPT 24) at Medlatec General Hospital.

Illustration photo.

This is an unexpected result from the test package that comes with a test to detect Thalassemia gene mutations, helping couples have a basis to plan and monitor a safe pregnancy, avoiding dangerous complications for the child.

Ms. K. is currently 12 weeks pregnant and has registered for a NIPT 24 test at home. Previously, she had a premature birth at 34 weeks of pregnancy, the baby had an enlarged heart, fetal edema and unfortunately died after birth.

Her NIPT 24 test results did not detect any chromosomal abnormalities, however, the Thalassemia gene mutation detection test showed that she carried a heterozygous SEA mutation in the HBA1 and HBA2 genes.

To determine exactly, her husband also did a Thalassemia gene test and the results were similar, discovering that he carried the same heterozygous SEA mutation on the HBA1 and HBA2 genes. Through the ultrasound, the doctor did not detect any abnormalities in the fetus.

The conclusion from doctors at Medlatec determined that both husband and wife are healthy carriers of the Thalassemia gene and need to be carefully monitored and counseled to ensure a safe pregnancy.

Thalassemia is a genetic disorder characterized by a decrease or deficiency in the synthesis of globin chains in the hemoglobin molecule, an important component of red blood cells. The disease has two main forms: α-Thalassemia and β-Thalassemia, depending on the globin chain affected.

Gene mutations that cause globin deficiencies can lead to severe forms of the disease that cause severe anemia, affecting the health and development of children.

According to Dr. Luyen Thi Thanh Nga, Medlatec Genetics Center, the rate of people carrying the Thalassemia gene in Vietnam is quite high, about 13.8% of all ethnic groups.

In particular, some ethnic minorities such as Tay, Thai, Muong have a rate of carrying the α-Thalassemia gene of up to 20%. At Medlatec, in 2025, the SEA mutation is the most common form in cases of detected α-Thalassemia.

Thalassemia is a recessive genetic disease, so people carrying the gene often do not show any external symptoms, making it difficult to detect without specialized testing. If both husband and wife carry the Thalassemia gene, the risk of having a child with a severe form of the disease can be up to 25%.

Therefore, prenatal or pre-marital genetic screening is essential for counseling and prevention. In the case of Ms. K. and her husband, the doctor specifically advised on the risk of giving birth to a child with severe Thalassemia, and performed amniocentesis for prenatal diagnosis. The results showed that the fetus had a normal genotype, helping the family feel secure in continuing the pregnancy.

Doctors also recommend that in subsequent pregnancies, couples can choose to have a natural pregnancy combined with amniocentesis for prenatal diagnosis or in vitro fertilization combined with embryo screening to minimize risks.

Severe thalassemia causes chronic anemia, requiring lifelong blood transfusions, and can easily lead to bone deformities, enlarged liver and spleen, heart failure, and possibly early death if not treated promptly. The disease also places a heavy mental and financial burden on families and society.

Therefore, Thalassemia gene screening not only helps to detect individuals carrying the disease gene early but also helps couples plan to have children safely, minimizing the risk of the disease for future generations. This is an effective preventive measure and needs to be widely disseminated in the community.

Source: https://baodautu.vn/xet-nghiem-sang-loc-truoc-sinh-nham-phat-hien-benh-di-truyen-nghiem-trong-d326267.html