Genetic screening before pregnancy: What you need to know

The article was professionally consulted with Doctor Nguyen Thi Man - Obstetrician and Gynecologist - Department of Obstetrics and Gynecology - Vinmec Danang International General Hospital.
New tests, including home collection kits, have made it easier to know if you're pregnant with a baby with a genetic disorder. Thanks to these pre-pregnancy genetic screening tests, the number of people with genetic disorders has been reduced.

1. Principle of Gen . testing

A gene consists of two parts, one inherited from the father, the other from the mother. Many people with genetic disorders inherit both parts of the disease. If you inherit only a part of the disease gene, you will not show symptoms of the disease, but you will be a carrier of the disease gene. And when this person gives birth to a child, if both husband and wife pass the disease gene to the child, the child will have a genetic disorder.
To screen carriers of the disease before pregnancy, the doctor will take a sample of saliva or blood, and then send the sample to a laboratory for testing. If self-sampling using a home sampler, the sample should then be taken to a laboratory.
The test checks for genes associated with certain genetic disorders. A standard screening test checks for:
Cystic fibrosis Fragile X syndrome Hematological abnormalities eg sickle cell disease Hand - Sachs Disease Spinal muscular atrophy New tests in Extensive genetic screening can detect disease genes associated with more than 400 different genetic disorders, including rare and difficult-to-treat diseases.
Xét nghiệm đột biến gen di truyền
Xét nghiệm gen nhằm phát hiện các bệnh về rối loạn gen di truyền

2. Who needs screening?

If a wife or husband has a family history of genetic disorders, the doctor will order genetic screening for both. Screening should also be done to find disease genes for certain diseases with a high frequency of race-related occurrence, such as:
Ashkenazi Jews (Tay - Sachs disease and others) People African-Americans (sickle cell disease) Mediterranean and Southeast Asian (hereditary hemolytic anemia) Genetic disorders are so diverse that each individual needs only a few screenings. determined.

3. Advantages and disadvantages of genetic screening before pregnancy

Genetic screening before pregnancy certainly cannot guarantee that the baby will not get sick; Screening results are meant to increase the likelihood that the doctor will more accurately predict the probability of the genetic disorder the child will have.
Advantages of genetic screening: Finds undetected problems: there are many genetic problems that would otherwise be unrecognizable, and there is no other way for a wife or husband to know about them. If husbands and wives are made aware of these risks, they will have a better chance of making the right decisions. Know your family history: screening results will help identify high-risk problems and better understand your family history (especially those from multi-ethnic families). ). Screening is fairly straightforward: a saliva or blood sample for pre-pregnancy testing is quick and harmless. Cons of genetic screening: Results can be inaccurate: No test is 100% accurate. Although the result is not carrying the disease gene, in reality this may not be the case. On the contrary, although very rare, the result is carrying a disease gene but in fact there is absolutely no disease gene at all. Inaccurate results sometimes create heavy pressure on couples before deciding to get pregnant. It is not always known how the disease gene will affect the baby: although it is known that there is a chance that the child will be born with the disease gene from the parents, there is no way to know if the birth defect will occur. whether or not the baby will have the disease now, how severe or mild the illness will be, and how it will progress in the future.
Tư vấn và chăm sóc sức khỏe trước khi mang thai
Tư vấn và chăm sóc sức khỏe trước khi mang thai tại Vinmec

4. Notes when performing genetic screening before pregnancy

Pre-pregnancy genetic screening provides a lot of useful information, but deciding how to act on that information requires a lot of considerations:
How will the screening results affect you: whether When knowing the results will make you more or less anxious, will it be easier or more difficult to decide to get pregnant? How do screening results affect families: should the results be communicated to the family, who in the family will be affected by the results, and how? What to do next: think with this result, what to do next, if you have difficulties, do not hesitate to discuss and consult with a specialist to relieve the stress and anxiety that the results bring. Learn more about the possibilities to make a better choice, listen to helpful advice. 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.

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