We have a baby!!!

Today we just confirmed that my wife is 6 weeks pregnant after 12 years together (we are happy about it!) However, me and my wife are both alpha thal zero patients with 2 alpha gene missing. Our gynea suggested that my wife can do a chorionic villus sampling (CVS) or amniocentesis when the baby is 12 or 16 weeks old. And she recommend CVS since it can be done earlier than the amniocentesis, therefor if the baby is diagnosed with alpha thal major, earlier action can be taken.

However we have a few doubts, hope some expect here can give me advises. Even though our gynea had consulted us regarding this issues, but I guess some of you may know more about thalassaemia than a gynea. Below is my questions:

1) Is CVS more accurate than amniocentesis in early pregnancy thal diagnosis? And how accurate would that be?

2) Is CVS more dangerous to the baby than amniocentes?

3) If she do the CVS after 12 weeks pregnancy, is it necessary to do another one in  later stage of the pregnancy?

4) If CVS proved that the baby is 100% free from thal, would the baby develop thal after he/she was born, or after a few years?

5) If CVS proved that the baby is alpha thal minor like me and my wife, would it develop into alpha thal major when he/she was born, or after a few years?

6) What options do we have if the baby was diagnosed with alpha thal major?

7) Is there any supplement my wife should or should not take during the pregnancy.

8) My wife is taking 1 tablet of the combo below, is that enough?
  - Folic Acid: 1mg, daily value of 250 (What do daily value means?)
  - Vit B-6    : 2mg, daily value of 1000
  - Vit B-12  : 120mcg, daily value of 2000
   

Sorry if my question sounds too dumb, but this is about the life of my baby, so please bare with me. Beside that, my wife had been quite paranoid (and happy at the same time) after found out that she is pregnant, I am trying my best to calm her down. Any advise would be appreciated. Thank you.

Congratulations!!!

I am sorry. I am not the one who can answer your questions. I am going to be the one who learn about your question 

Let's see of somebody is awake.

Best wishes, Dore

Thanks Door! We knew we are both thalassaemia minor before we were married. And we are just about to plan for an IVF after 12 years of efforts, and here he/she comes. We are happy and worry at the same time, but we see it as a gift from god.

Hi jamjam,

Because of the possibility of alpha thal major, you should get the CVS so you can make a decision at the earliest date. Alpha thal majors cannot produce any hemoglobin and do not survive pregnancy, except in a very few cases where transfusions have been done while the baby is still in the womb. I recently talked with a girl on Facebook who was around 20 years old who is alpha thal major and survived by being transfused in the womb. She is now pretty much the same as any transfusing beta thal major. This however, is very unusual and most alpha thals do not survive the full pregnancy. In most cases, abortion is the only recommendation.

What the CVS will show is exactly what the baby is genetically. This will not change during its life. If diagnosed as alpha thal minor, it will always be one. It would never be intermedia or major. If it doesn't carry alpha trait, it never will.

I would recommend that your wife take at least 2 mg of folic acid daily. In fact, I would recommend that you both take it daily all the time, as it is the only treatment for alpha thal. If either of you have any signs of anemia, it may be of some help. It would also be wise to avoid fava beans, as they can cause a hemolytic crisis in alpha thals.

Thanks Andy, the reason I asked is because I heard certain new born baby will need to wait for half to one year to be able to diagnose for thalasseamia. So you are saying if the CVS shows that my baby is free from any type of thalasseamia, he/she will not develop thalasseamia even after one year of observation period? Or the half to one year period is actually the observation period for thal major symptom to show up?

And another thing is I bought a few bottles of multi-vitamins+minerals which happen to contains 5mg of iron in each tablet, which I am not aware of during that time. My wife HB test shows that her iron level is average (old report), so is 5mg of iron each day dangerous for her especially when she is pregnant? I cant seems to find any multi-Vitamins+minerals which is free of iron. Even the "Anmum" milk powder she bought after the pregnant contains 7.5mg iron in each serving. I may have to buy all those vitamins+minerals separately to avoid iron.

Hi jamjam,

CVS will give you a definite answer. There would be no difference after birth. Also, babies can and should have hemoglobin electrophoresis done at birth to determine if there are any unusual hemoglobins. Alpha thalassemia carrier state will be revealed by the presence of Hemoglobin Barts. You do not have to wait. If this testing is not done, it can be very difficult to diagnose alpha thal trait later on, so a DNA test will be the only method to absolutely determine alpha trait once the Hb Barts present at birth disappears.

For alpha thal, an alpha thal major child would not survive pregnancy. In beta thal, symptoms can show up anytime within a few months after birth to 1-2 years of age. Since you are both alpha thal zero, which is the cis deletion, which means both alpha genes on one chromosome are deleted, as opposed to the trans deletion, where one alpha gene is deleted on each chromosome, your child cannot have HBH disease, which is a 3 gene deletion. Your child has three possibilities. No alpha genes deleted (not a carrier). Two alpha genes deleted (Alpha trait). All four alpha genes deleted (Hydrops Fetalis-alpha major). There is no possibility that your child could develop HbH disease, which sometimes requires transfusions, as with beta thal where symptoms would creep up as the baby ages. Each parent will give the child either two normal alpha globin genes or two alpha thal genes. If both give the alpha thal pair, the baby will have alpha major. As I mentioned before, this is normally a fatal condition, outside of some cases that have been detected early enough to intervene with transfusions while still in the womb. This is why I think CVS is so important. You really do need to know if it is major as early as possible, so all options can be discussed.

5 mg iron is OK for a pregnant woman. I would not recommend taking iron outside of the pregnancy. I think it might be good to avoid the high iron milk powder. She can easily take 5 mg of folic acid daily and this will do far more for her than iron will.

Thanks Andy, you had been so kind to answer all my questions. I think I will ask my wife to stop the high iron milk powder and look for something with normal or no iron contain. I will get my wife to do a HB test as well to determine her iron level again.

As for the transfusions in the womb, I am not sure if we have the technology here in Malaysia, may have to ask our gynea about that. Thanks again. Will report back when the CVS result came out 6 weeks from now.

Good luck with the CVS 

Zaini.

Hi there,

It had been 2 weeks since our last visit to our gynea. My wife couldn't sleep well and occasionally having some minor pain at her lower abdomen. Today we were so worry and pay our gynea a visit. Ultra-sound shows our baby have grown from 0.35cm to 1.50cm, and doctor say the baby is fine and the pain is normal.

But my biggest problem is that my wife can't sleep well nor matter how I try to calm her down, and I don't want her to take any sleeping peels either. Is there anyway to make her feel and sleep better? Now she is taking forlic acid, Vit E, calcium, salmon oil and protein powder everyday. The calcium suppose to make her sleep better but it doesnt help. I am worry the lack of sleep may not good for the baby. She is a full time house wife though.

Any suggestion? Thank you.

Hi,

I am sorry to hear that your wife is having difficulty sleeping,the thing is this happened with me too in both my pregnancies,i always had difficulty sleeping in pregnancy and i used to wake up quite a few times.
Only thing i can advise you is ask her to take her supplements with meals,as sometimes supplements can cause a little bit of discomfort in stomach,and a glass of warm milk might help.

Zaini.

When my wife is 6 weeks pregnant, we went for the first checkup, there is clearly a heartbeat and the embryo is about 0.35cm. We went for another checkup during 8 weeks and there is still heartbeat and the embryo is 1.57cm. However we went back for a checkup yesterday during the 11 weeks, there is no more heartbeat, and the size of the embryo is only 2.5cm+- and gynea claimed that the size indicates the embryo is only 9 weeks old. And this may be due to alpha thal major.

We were shocked with the result, we went for another gynea straight away to get a second opinion, and its the same, no heartbeat. Both doctor claimed that the baby is 100% gone, but we don't wanna to just give up like that. Is that any possibility that the abdominal ultrasound missed the heartbeat? Would a virginal ultrasound more accurate in detecting heartbeat? What happen to the size of the embryo?

We had actually anticipate there is a 25% possibility that this will happen. But when it actually happen its a different story. Today we went for a traditional chinese doctor (we are both chinese), and the doctor suggest us to wait for another 2 weeks to see what happen. He said that some times the metabolism of the embryo slow down to a certain extend, and ultrasound may not be able to detect the hearbeat, and the slow metabolism will cause the baby to grow slower than normal speed. And he also said that we cannot depend solely on ultrasound. But he cannot give us a definite answer.

My wife do have an abdominal pain during the 9 weeks, but she feels ok the next day. She doesnt bleed or feel anything wrong since then. We don't know what to do now. One of my friend suggest to do a virginal ultrasound, how about a HCG test? We are willing to any test just to have a 100% answer. I know it may sound stupid, but we waited 12 years for this and we wouldn't give up untill we are 100% sure.

If worst to worst the baby is confirmed gone, do you suggest a D&C or some kind of medicine? Which one is better and less suffer for my wife. She is 31 this year, and this is her first pregnancy. Any advice will be appreciated. Thank you.

Hi jamjam
Between my daughter and son I have had two miscarriages all around the 12th week. You know it was the same thing no heart beat. But my gynae gave 2 weeks time to see if the heart beat reappeared and also doubled my folic acid and also gave baby aspirin. I have had D&C  both the times.

take care
maha

Dear Jamjam,

My thoughts and prayers are with your family for the best possible outcome.

Sharmin

Jamjam,

I am very sorry to hear about this development. It is likely that the fetus is gone. No heartbeat and no growth does mean an extremely low chance that the fetus could still be viable. Of course, you do need to verify this, but there is very little chance of good news here. Your doctor should be able to guide you to the best process for removing the fetus. This is common in alpha thal and the fetus must be removed to protect the mother's health, once there is no chance that the fetus has survived.

We can talk more about the future and what your choices are at a later date.

My heart goes out to you in this very sad time.

Thank you all. We will go for a virginal ultra-sound next monday. And if it a confirm, we will consult with the doctor what is the best options for my wife, and go on with our life. We can not wait any longer like the chinese doctor suggest, because its so hard on my wife that every single day of waiting is a suffer, and it would be too selfish of me to ask her to do so. Thank you all again, we are glad to find this community to help people like us.