Pre-pregnancy health check-up, unexpected discovery of 3 genetic breakthroughs
Wishing to prepare best before starting the journey to become parents, Mr. D. (29 years old) and Ms. B. (22 years old) came for a premenstrual health check-up at MEDLATEC General Hospital.
Through initial clinical and paraclinical examinations, both have not recorded any abnormalities in their health.
However, to comprehensively assess the genetic risk for the next generation, the doctor ordered the couple to conduct a secret genetic test to screen for 15 genetic diseases of diarrhea - a modern technique to help detect early the risk of carrying the disease's gene even if there are no symptoms.
The results showed that Mr. D. was healthy with 3 genetic changes: alpha Thalassemia, beta Thalassemia (causing anemia tansi) and citrin deficiency (due to the SLC25A13 gene change). Fortunately, these dotigations are all in the form of a decessive disease - that is, carrying only one copy of the disease gene, so it does not affect the health of the person carrying the gene.
Immediately afterwards, Mr. D.'s wife was ordered to have a genetic test to determine the genetic risk for her child. The results showed that she did not have any breakthroughs in the 3 genes her husband was carrying. Thus, this means that: The child is born without the risk of the above genetic disease;
Children are still 50% likely to carry the disease's gene, but are completely healthy and have no symptoms;
In case of pregnancy, Ms. B. does not need to have a dialysis to diagnose these diseases before giving birth.
MSc. Dr. Nguyen Ba Son - Head of the Genetics Department, MEDLATEC Testing Center said that fortunately, the couple had safe pregnancy results. However, doctors recommend additional genetic screening for siblings on both sides of the family to prevent the risk of genetic diseases for the next generation.
Some common genetic diseases of diving in Vietnam
Genetic diabetes occurs when a person simultaneously receives two copies of a dot doi gene - one from the father and one from the mother.
Many people only carry an abnormal copy of the gene (called healthy people carrying the gene) completely healthy, without symptoms, so it is difficult to recognize it through regular examination. It is this "silence" that makes many couples only discover that they are carrying the disease gene when their children are sick, or during the process of pre-marital screening - pre-pregnant.
When both husband and wife are healthy and carry the same gene for the same genetic disease on the normal chrome, the risk of giving birth to the disease is up to 25%, 50% chance of the child carrying the gene and 25% of children giving birth completely healthy. This possibility occurs randomly and independently during each pregnancy, meaning the risk of recurrence in subsequent births is the same.
In Vietnam, many genetic diseases with high frequency of people carrying the gene are not properly cared for by the community. According to Dr. Nguyen Ba Son, some of the following common diseases should be screened early, especially for people of reproductive age:
Thalassemia (uditedly modified HBA1, HBA2, HBB) with a protein carrying weekly rate of 1/13; with a population of 100 million people in 2023, there will be about 7.76 million people carrying the gene.
G6PD deficiency (G6PD gene mutation) with a frequency of carrying the 1/36 gene.
Phenylketon Urinary tract disease (popularity PAH gene modification) with a frequency of carrying the 1/60 gene.
Milk allergy (Galactose metabolism disorder) (suddenly changing the group of group members) with a frequency of carrying the 1/416 gene.
Golden skin is yellow due to citrin deficiency (gen SLC25A13) with a frequency of carrying the 1/32 gene.
Gender developmental disorder in men due to 5-alpha reductase deficiency (genSRD5A2) with a frequency of 1/45.
Pompe disease (uditedly developed as GAA) with a frequency of carrying the gene of 1/52.
Wilson's disease (copodism disturbance) (adult transformation of ATP7B gene) with a frequency of 1/110 carrying the gene.
Testing for secret pathogen screening - Smart steps to protect the health of future generations
testing for secret genome screening is a modern medical tool that helps detect healthy people carrying genetic diseases, thereby predicting the risk of having sick children if both husband and wife carry abnormal genes.
With practical values and high proactiveness, this test is increasingly becoming a priority choice for pre-marital, pre-pregnant, or pregnancy examination.
Doctors recommend that couples, especially those of reproductive age, or those preparing to get married/ give birth, should undergo a genetic screening test for underlying diseases for the following reasons: Assessing the genetic risk for the next generation; Early intervention - improving the quality of life for children; Proactively choosing the right reproductive method.
