Frequently Asked Questions 1. Do I need prenatal diagnosis if only one of the couple is suffering from mild geodeposition? No, it is not necessary. Only 1/2 of the fetuses they carry have a chance of having a mild case of thalassemia, and the other 1/2 are normal fetuses, and no fetus with heavy thalassemia will be conceived. 2. Do I need the male partner to be tested for the toxoplasmosis if the female partner is not detected during the pregnancy test? Generally, it is not necessary. In this case, even if the male partner is suffering from severe thalassemia, the fetus will be at most a mild thalassemia, which is not a big problem. 3.Does the 1 in 4 chance of having a child with severe leukemia mean that there must be a chance of having a child with severe leukemia in one out of four pregnancies? Not necessarily. It should be interpreted as 1/4 chance: each pregnancy has a 1/4 chance of having a fetus with severe thalassemia, rather than only one out of four pregnancies having a fetus with severe thalassemia. 4. Is there any hope for a normal child for a pregnant woman who has had 3 pregnancies with a hydatid fetus? Yes, there is a chance. If both couples are suffering from low grade leukodystrophy, after each pregnancy, there is only a 1/4 chance of having a child with high grade leukodystrophy, and a 3/4 chance of having a child with low grade leukodystrophy or a completely normal child, it is important to receive genetic counseling and prenatal diagnosis after pregnancy. 5. If a pregnant woman’s physical examination reveals that she has mild anemia, is it necessary to take iron supplements immediately? Iron supplementation is advisable with caution. It must first be clarified whether it is iron deficiency anemia or thalassemia. Anemia caused by thalassemia is due to excessive destruction of red blood cells. In this case, iron release from red blood cells increases, and there is no iron deficiency at all. On the contrary, in some patients with severe thalassemia, iron overload leads to iron pigmentation disorder, which causes changes in liver and kidney function. Therefore, when the diagnosis of thalassemia is confirmed, iron supplementation is not recommended. 6.Is it necessary to do prenatal diagnosis if one of the couple has α-deficiency and the other has β-deficiency? It depends on different situations. According to the survey, there are many patients with α thalassemia combined with β thalassemia. The clinical manifestations and laboratory tests of these patients are similar to those of patients with simple β thalassemia, and the anemia symptoms are often mild, so they are easily misdiagnosed as simple β thalassemia. Therefore, if one of the couple has α-depletion and the other has β-depletion, if the β-depleted partner is combined with α-depletion, there is still a 1/4 chance of giving birth to a heavy α-depletion patient, and prenatal diagnosis is needed at this time. 7.What is the accuracy of prenatal genetic diagnosis? Different genetic diagnosis methods have been able to diagnose 17 common β and 3 common α genes, i.e. more than 90% of the genes in our population can be diagnosed. Genetic analysis of fetal DNA extracted from amniotic fluid is more than 99% accurate, but there is still a misdiagnosis rate of about 1%. Contamination of maternal cells during sampling affects the accuracy of diagnostic results. Also, if there is any doubt about the parentage of the fetus, the diagnosis result is not in accordance with the genetic law. 8.How to contact for prenatal diagnosis of leukodystrophy? If both pregnant couples go to a genetic diagnosis center for genetic diagnosis confirmation, and after genetic counseling, it is clear that prenatal diagnosis is needed, according to the gestational age, an appointment will be made for prenatal genetic diagnosis after chorionic villus or amniotic fluid sampling.