Screening for genetic disorder carriers before pregnancy

This is an automatically translated article.

The article was professionally consulted by Specialist Doctor II Lai Thi Nguyet Hang - Department of Obstetrics and Gynecology - Vinmec Ha Long International Hospital.

1. Principles of genetic testing

These genetic disorders are usually recessive, which means that a child must inherit two mutated genes, one mutated from their father and one mutated from their mother to get the disease. If you are a carrier of a recessive mutation, it means that your gene combination needs to contain 2 genes, a normal gene and a mutated gene from either parent (who carries the mutated gene but does not express it). to the outside).
If both parents carry a gene for a genetic disorder such as cystic fibrosis, sickle cell disease or Tay-Sachs disease... the probability that the child will have this disease is 25%.

2. How is screening for genetic disorders carried out?

It is rare for people to carry multiple mutated genes at once, but one large study found that 24% of the patients examined were carriers of at least one mutated gene. And the average risk of having a baby with one of these mutations is higher than having a baby with Down syndrome or a neural tube defect. Furthermore, these mutations will not be detected by prenatal tests such as chorionic villus sampling or amniocentesis.
You should get a screening test before planning to conceive. This way, if you find out that you and your partner are both recessive carriers, you'll be more careful. Usually, couples are only offered screening for one or two genetic mutations if they are determined to be a high-risk carrier, i.e. a family member with the genetic disorder or are carriers of the disease or belong to a high-risk ethnic group.
You can choose to screen for a wide range of common mutated diseases. There are now more than 100 genetic diseases that can be screened instead of just one or two for which you are at risk. This approach is called extensive screening and you can absolutely request this service.
You will be asked to take a blood or saliva sample. If you have been identified as a carrier, your partner will also be screened afterwards. Or both can be screened at the same time for faster results.
You should consult a geneticist before your screening and after you receive the results. They can explain the results of the test to you and provide options for planning a baby for your family.

3. How much does screening for genetic disorder carriers cost?

Thanks to advances in technology, screening costs have dropped significantly in recent years. Because prenatal screening is often recommended during prenatal care and prenatal care, it may be covered by insurance. However, there are some diseases that are not covered by insurance. Given the benefits of screening, you and your family should consider getting screened before you plan to have a baby.

4. What to do when you find out that you are a carrier of a genetic disorder?

If you find that both of you carry the disease gene, you may decide to try artificial insemination with sperm from a non-carrier. Another option is in vitro fertilization: Genetic testing is done in the embryo before it is implanted in the uterus. (This test is called preimplantation genetic diagnosis.) Also some couples decide to adopt or not have children.
Currently, many women are not offered genetic screening until pregnancy. If you are already pregnant and still want to be screened for the mutated gene, it should be done as early in your pregnancy as possible.
It should be noted that chorionic villus sampling and amniocentesis will not tell if your baby has genetic disorders. You and your partner need to get a genetic screening test first to find out what mutation you have and can ask a testing center to look for that mutated gene in your unborn baby.
Early genetic screening has many advantages. For some diseases, knowing your baby may be affected by genetic mutations before he or she is born will help your child get treatment sooner. You can contact the right medical professionals to start your baby's treatment soon after birth.

To prepare for a healthy pregnancy, both husband and wife should have a reproductive health checkup 3-5 months before becoming pregnant.
The wife should:
Get vaccinated before pregnancy (especially against rubella because rubella in pregnancy is extremely dangerous ) Genetic testing to screen for genetic diseases before pregnancy Check for secondary infections In particular, women over 35 years old who want to become pregnant (especially if they have never been pregnant) will have to have a very detailed health check because pregnancy at this age often problems: Ovarian failure, premature birth, higher risk of birth defects, placenta previa, preeclampsia. The husband should:
Check reproductive health, detect diseases of testicular atrophy, physiological weakness, weak sperm... Sexually transmitted diseases, especially those that cannot be cured, are extremely dangerous. Vinmec currently has many comprehensive health care programs for couples, pregnant mothers and their unborn babies, including basic pre-marital examination packages, advanced pre-marital examination packages, and maternity packages. . Vinmec has a team of experienced doctors in the fields of obstetrics and gynecology, IVF, stem cells, gene technology, capable of synchronously and comprehensively deploying the most advanced assisted reproductive techniques today.
For specific information about fertility and maternity packages at Vinmec, please contact the hospitals and clinics of Vinmec health system nationwide.

Please dial HOTLINE for more information or register for an appointment HERE. Download MyVinmec app to make appointments faster and to manage your bookings easily.

Reference source: babycenter.com