Carrier screening

Article by Dr. Bui Thi Phuong Hoa - Medical Genetics Block, Vinmec High-Tech Center.

The Vinmec carrier screening test package helps to test for 301 genes associated with all disorders recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG). ) and an accompanying extended list of recommendations.

Prenatal health care (PMC) is concerned with promoting a couple's health and well-being before pregnancy and is considered a primary preventive approach when they are conceiving and is a important step to protect society and allow people to enjoy life. PMC includes premarital health counseling and general physical examination. Prenatal screening can be especially important in preventing the spread of disease. PMCs can identify and modify, through prevention and management, a number of other behavioral, medical, and health risk factors known to affect pregnancy outcomes. Among them genetic testing is an extremely important test. Carrier screening tests help screen asymptomatic individuals or relevant parts of the population at increased risk for specific genetic diseases or who may have carrier status information is particularly relevant. As such, they are designed to determine whether individuals have an increased risk of specific genetic diseases or whether they carry a genetic predisposition that could predispose to disease in their children.

The Vinmec carrier screening test package helps to test for 301 genes associated with all disorders recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG). ) and an accompanying extended list of recommendations.

Positive
A positive result means that a pathogenic variant is found and you are a carrier of one or more of the tested diseases. You are only a carrier of the gene so it does not affect your own health, however, it increases the risk of the disease for your children. As a next step, your spouse should have this test to see if there is a risk. Results will be consulted by a geneticist.

Negative
A negative result means that no pathogenic variant was found in the test. The risk of your baby getting tested diseases is reduced. However, there is no test that can detect all causes, so there is still a low chance that the carrier of the gene will not be found. You should still check and monitor your health during pregnancy.
Vinmec International General Hospital with modern facilities, leading investment equipment in Vietnam and a team of experienced experts is implementing the Pre-pregnancy health care and counseling program.
Most Vietnamese women today are only concerned with their health and the baby after pregnancy, while preparing for pregnancy is much more important. The counseling and health check for pregnancy preparation for couples who are planning to become pregnant, for parents who have been pregnant or have had children with birth defects or problems related to pregnancy. Chronic diseases, obstetric and gynecological diseases, ... are very important and necessary to minimize the risks that may occur in the next pregnancy.
Besides genetic screening, Vinmec's Pre-Pregnancy Care and Counseling Program also screens for many other factors, such as pre-implantation testing (PGT), screening for diseases such as negative infection. religion, sexually transmitted diseases (STDs), diabetes, cardiovascular diseases, ... to prepare well for pregnancy, increase the likelihood of having a healthy baby, and minimize risks. during pregnancy, childbirth and postpartum.