We R Both Same type Thalassaemia Carriers

Question

Hi all. Im currently 19 wks. Did my NIPT test on 11 wks and results is low risk baby. However, during my 16 wks gynae appointment, my gynae told me my blood test shows Im a thalassemia carrier, which also needs my husband to test if he is also a carrier as well. Hence we have proceed to KKH thalassemia registry for our further blood testing, which results both of us are thalassemia minor carriers, also means my baby will have 25% risk of inherit thalassemia major which is high risk, 50% will be a carrier like us, 25% will be normal. My gynae has advised that I should take Amniocentesis to test if baby has the risk.I have told him I will decide after I took my 20 wks detailed scan next week.Im quite reluctant to take amniocentesis as I felt that my NIPT was low risk, and if the detailed scan is fine, there will be 75% chance of normal/carrier. But both my gynae and husb is suggesting me to take. My husb is just following gynae recommendations.Im lost and worried. Can anyone advised if they have gone thru similar or heard from friends?Thank you.

Cherlyn · Accepted Answer

NIPT checks for DNA related conditions like Downs Syndrome, etc. The foetal scan checks for development of the organs. Thalassaemia major is a blood disorder in which the baby’s blood cannot make enough good haemoglobin, which is required to carry oxygen throughout the body to function. This means that in order to live, a baby with thal major will need regular blood transfusions throughout the entire life, or a bone marrow transplant, if suitable. The child will need a fulltime caregiver for quite some time, with regular visits to the hospital. There are also possibilities of complications that may arise from the condition or the transfusions. I think that deciding whether to go for amnio is also a big decision. If a good sample is drawn, you’ll get your answer as to whether your baby’s affected. If the sample’s inadequate, you may need to repeat the test (low chance). But there’s also a 0.5% risk of miscarriage when it comes to doing the procedure, which is probably why you’re also hesitating. So I think you’ll need to have a good talk with your husband.. about what you would do with the results. Will you keep the baby regardless? Would you terminate the pregnancy? Would knowing early help you prepare to make big life changes? Also, are both of you willing to accept the small risks that come with the procedure? This is a tough decision, so I hope you and your husband will be able to find peace in your decision. And I hope you and your baby will continue to be safe and healthy ❤️