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Genetic testing in pregnancy is one of the very important jobs in order to detect early and have timely remedy / coping methods for some congenital diseases for the fetus. So, what genetic tests should each pregnant woman do and how to conduct to ensure the health of the fetus in the womb?
1. Prenatal screening tests
Depending on the age of the fetus, one of the following two types of prenatal genetic screening:
Double Test Usually performed early in the first 3 months of pregnancy to detect congenital malformation syndromes may appear in the fetus.
Performing the Double Test can assess the risk of chromosomal diseases such as Down syndrome, Edwards syndrome or Patau syndrome. Predictive results are based on quantification of free Beta-hCG and PAPP-A in the blood of pregnant women combined with factors such as nuchal translucency, maternal age and gestational age.
Triple Test Triple Test is one of the necessary pregnancy genetic tests, in the group of screening for fetal malformations and making a great contribution to detecting the risks of early birth defects in children.
Triple Test is usually done during the 4th to 6th month of pregnancy. For the most accurate results, pregnant women should be tested Triple Test when the fetus is 16-18 weeks old.
Triple Test, although not able to accurately diagnose the health status of the fetus, can help detect the risk of inherited chromosomal disorders, thereby making other diagnoses.
The results of the Triple Test genetic test are divided into two main groups:
Increased AFP group: Signs that the fetus has a neural tube defect. AFP-lowering group: If hCG and estriol levels are also reduced, the baby is more likely to have Down, Edwards or other chromosomal disorders.
Xét nghiệm di truyền là một trong những công việc quan trọng cần sớm thực hiện trong thai kỳ
2. Prenatal diagnostic genetic testing
Karyotype test This is a test conducted by culturing cells in a special medium and then staining chromosomes by GTG technique, thereby identifying genetic disorders, mental retardation, heterogeneity. birth defects in the fetus.
QF-PCR assay QF-PCR stands for quantitative fluorescence PCR – a technique used to amplify several short but highly specific DNA fragments. This indication is often used to check the dose of genes, thereby rapidly diagnosing prenatal chromosomal disorders, especially common syndromes such as:
Down syndrome. Turner syndrome. Edwards syndrome. Klinefelter syndrome... The FISH FISH test is a pregnancy genetic test used to detect the presence of specific DNA sequences present on chromosomes.
For the fetus, FISH has the purpose of diagnosis and from there genetic counseling - treatment as well as determining the type of Chromosomal mutation. Simultaneously, FISH can also evaluate gene expression in the cells and tissues examined.
Thalassemia test Thalassemia is an inherited anemia caused by the rupture of red blood cells and leads to lack of oxygen in the body, very common in Southeast Asia and China. The disease is very dangerous, can cause stillbirth in the uterus or the fetus dies soon after birth.
For early diagnosis of genetic mutations that cause Thalassemia, some genetic tests in pregnancy such as PCR, MLPA will be conducted.
Tan máu Thalassemia có thể gây ra hiện tượng thai chết lưu hoặc chết sớm sau sinh
Duchenne muscular dystrophy test Duchenne muscular dystrophy is a very common genetic neurological disorder in humans. The prevalence of the disease hovers around 1/3500 boys globally. These children develop myasthenia gravis very early in the age of 2 to 3 years and progress rapidly. This leads to loss of ability to walk and even death at the age of 20 from respiratory disorders and injuries.
Therefore, conducting genetic testing for early diagnosis of Duchenne muscular dystrophy is absolutely essential for active prevention.
Hemophilia gene test – hemophilia Hemophilia is a hemophilia due to lack of clotting factors that is very common globally and can appear in any subject, most commonly in men.
In order to actively prevent this pathology for the fetus, prenatal hemophilia diagnostic testing should be performed.
Test for DiGeorge syndrome DiGeorge syndrome occurs due to a disorder of chromosome 22 which leads to many birth defects such as:
Heart defects. Thymus gland defect. Parathyroid defect. Facial disability. Developmental and behavioral disorders, concentration disorders, autism... Disabilities related to hearing and vision. Because of these dangerous malformations, genetic testing for pregnant women related to DiGeorge syndrome is essential to limit the occurrence of the disease in the fetus.
Xét nghiệm hội chứng DiGeorge để hạn chế sự xuất hiện dị tật nguy hiểm ngay trong thai kỳ
Cytomegalovirus DNA test Cytomegalovirus is abbreviated as CMV – a virus in the Herpes group. Infection with CMV virus can occur by several routes. The disease can even be transmitted prematurely across the placenta. In the United States, CMV is the leading cause of birth defects.
Therefore, the Cytomegalovirus DNA test is also an extremely necessary pregnancy genetic test for screening – early diagnosis and appropriate intervention.
Genetic testing during pregnancy includes a series of tests needed to detect possible genetic abnormalities in the fetus while in the womb. Thanks to that, many birth defects can be prevented as well as limit their development when the baby is born and matures.
Vinmec currently has many maternity packages (12-27-36 weeks), in which the 12-week maternity package helps monitor the health of mother and baby right from the beginning of pregnancy, early detection and timely intervention. health problems. In addition to the usual services, the maternity monitoring program from 12 weeks has special services that other maternity packages do not have such as: Double Test or Triple Test to screen for fetal malformations; Quantitative angiogenesis factor test for preeclampsia; thyroid screening test; Rubella test; Testing for parasites transmitted from mother to child seriously affects the baby's brain and physical development after birth.
For more information about the 12-week maternity package and registration, you can contact the clinics and hospitals 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.
