Each year in Vietnam, there are more than 41,000 children with birth defects, including genetic diseases such as thalassemia... causing economic and mental burden on families and society. According to WHO statistics (2017), Vietnam is ranked 80th out of 194 countries in terms of infant mortality.
Pre-pregnancy genetic testing is a screening test for common genetic diseases to determine the risk of a baby being born with birth defects. Early detection of genetic risks helps parents make the most informed choices in childbirth, minimize risks during pregnancy, and increase the odds of having a healthy baby.
Pre-pregnancy genetic testing at GENTIS includes 2 tests:
1, Test for the gene that causes the blood clotting disorder - Thrombophilia
2, Genetic testing for Thalassemia
All women who are planning to become pregnant should have genetic testing before pregnancy, especially for the following:
|- Women who are pregnant for the first time. |
- Women with a history of miscarriage, consecutive stillbirths, repeated IVF failures.
- Pregnant women with a family history of Thalassemia or their spouses have a history of anemia, family history of anemia.
- Couples preparing for IVF.
Thrombophilia is a blood clotting disorder that leads to an increase in blood clots.
The nature of pregnancy is already a physiological process of hypercoagulability, combined with the hypercoagulable factor of Thrombophilia syndrome will put pregnant women at high risk for dangerous complications: Preeclampsia; Miscarriage; Stillbirth; Intrauterine growth retardation (IUGR), premature birth
==> Thalassemia test should be indicated as a routine test in the pre-marital examination package, as a screening test before IVF and in the embryo screening process (PGT-Thalassaemia)
|- Sample: 3-5 ml whole blood in EDTA tube |
- Technique: Gene sequencing technology
- Time to return results: from 15 days
|5 α-Thalassaemia mutations||--SEA,-α3.7, -α4.2, CS, QS|
|16 β-Thalassaemia mutations||-28(AG), -29(AG), Cap(-AAAC), Int(TG), CD14/15 (+G), CD17 (AT), CD27/28 (+C), βE(GA), CD31 (-C), CD41/42 (-TTCT), CD43 (GT), CD71/72 (+A), IVS-I-1(GT)/ IVS-I-1 (GA), IVS-I-5 ( GC), IVS-II-654 (CT)|