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 screening plays an important role in minimizing risks and improving the quality of the population in Vietnam.

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

• Early detection of genetic disease risks helps parents make safe choices in having children. In particular, in couples where the family has a history of genetic diseases, the healthy carrier itself is a carrier of the disease gene.
• Pre-pregnancy genetic testing can minimize the risks of pregnancy and increase the odds of having a healthy baby.

All women who are planning to become pregnant should have genetic testing before pregnancy, especially for the following:

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

See more: https://gentis.com.vn/thrombophilia-xet-nghiem-gen-gay-roi-loan-dong-mau-ds15

Epidemiology

• According to statistics in 2017, Vietnam has over 12 million people carrying the Thalassemia gene => by 2019 the rate of people carrying this disease has reached 13% of the population. Diseased people and carriers of disease genes are found in all provinces, cities and ethnic groups. The number of patients has now exceeded 000 people.
• Each year, about 8,000 more babies are born with thalassemia, of which about 2,000 have severe disease and about 800 can't be born due to hydrops.

Significance

• If both husband and wife are carriers of Thalassemia gene, the probability that the child will be born with the disease is 25%. With the main manifestations of anemia and iron overload, Thalassemia patients need to be treated with blood transfusions and lifelong medication, causing economic burdens for the family and the whole society.
• The screening and diagnosis to identify healthy people carrying the Thalassemia gene before giving birth will help parents choose an assisted reproductive solution to completely eliminate the disease-causing gene for the next generation.

==> 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)

• Thrombophilia
  - Detect 6 mutations (homozygous or heterozygous) occurring on 4 common genes including:
  - V-factor genes: G1691A (FV Leiden) and A4070G (FV R2)
  - Factor II gene: G20210A
  - MTHFR genes: C677T and A1298C
  - Gene encoding Plasminogen activator inhibitor - 1 (PAI - 1)
• Thalassemia
  Detect the mutant genotype: homozygous or heterozygous.
  - Simultaneous identification of 21 common α-thalassemia and β-thalassemia mutations causing Thalassemia in Vietnamese people.
  

  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)