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OMG I got high risk for down syndrome in my blood test.

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I 32 and pregnant for second bb.Now 17weeks.I took blood test last week and my report show that risk for down syndome is high.My result is 1/130.The cut-off is 1/250.My first son also got high risk for ds in blood test.I took amnio test and very luckily the result is good.I think the second bb will have ok result but still show the same thing.We are very worry about this now.Is this blood test accurate because I got this high risk 2nd liao.Lukily my first child is ok but this time got the same result again make us really worry.can somebody with this experience share something? :sad:

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should be fine. but if u still worry, go for amnio test lol... more accurate. my gynae only offer blood test for >35yo and tell me blood test only %, and up to me whether want to test or not. my fren 3/250 also went for amnio test, i know that is not cheap, but at least you can be relieve during on-going day of your pregnancy. enjoy your pregnancy

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Will u terminate your pregnancy if the amnio test shows positive for DS? if you will still continue your pregnancy and accept your kid as it is then no point going for amnio and stress up yourself throughout the pregnancy.

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Bunnynwife is correct. Unless you are prepared to terminate the pregnancy, this test will be creating a lot of unnecessary worry & stress during your pregnancy. Pls. enjoy your pregnancy :smile:

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And also you might want to read up the risks for amnio. There're cases where the baby was injured during the test.

Ask your doctor if the baby's nose bridge is visible & the thickness of the nuchal fold. They're not as accurate as amnio but I read they can be indicators.

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i ask my doctor to check the baby nose bridge and scan for other mark or sign.he said the physical of the baby no problem and he feel the baby should be ok.but he cant guarantee the baby is ok and ups to us to decide whether to take amnio or not.so we decide to do the amnio and now is waiting for the result.it take 2-3weeks to get the result.its really worry while waiting the result.even we go thru this for my 1st child but we still worry for this time.hopefully the result is ok.anyway thanks for all your advise.

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Blood test is just calculating % of the risk, the test was created due to it is having least dangerous to pregnancy woman & baby, but the % of false positive result also quite high. I will rather choose to do amion test even there are 1-2% of miscarriage risk, but it is confirmation rather than worry with the initial blood test result. With the high tech nowadays, the % of hurting bb inside during the process is actually quite low.

My HB & I both is alpha-trait thalassaemia, so we have no choice and has to go through CVS procedure which has higher risk than amion test. Amion is taking the water, CVS is taking the placenta cells which accordingly is close / exactly same as BB DNA. From this CVS, i did for thalassaemia test, DNA test for few genetically sickness & to get to know the sex of the BB.. I went through this for my both pregnancy, both of my bb also alpha-trait carrier like us, but they are OK :lol:

Good luck to u!

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My colleague's fren also have the same thing like u, do blood test and found possibilty bb will have down syndrome. But the couple does not go further test, cause they decide whatever it is, still want the baby. When delivered, bb is healthy.

I am 35 when have my first bb, but my gynae does not urge me to go for the blood test for down syndrome. He said if my answer for 2 questions is "NO", then is no need for the test. First Q, is your family got down syndrome history. Second Q, if test is postivie, will u let go the bb. My gynae also said it could be false alarm for the blood test.

pray more and you will have a healthy bb :)

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Blood test is just calculating % of the risk, the test was created due to it is having least dangerous to pregnancy woman & baby, but the % of false positive result also quite high. I will rather choose to do amion test even there are 1-2% of miscarriage risk, but it is confirmation rather than worry with the initial blood test result. With the high tech nowadays, the % of hurting bb inside during the process is actually quite low.

My HB & I both is alpha-trait thalassaemia, so we have no choice and has to go through CVS procedure which has higher risk than amion test. Amion is taking the water, CVS is taking the placenta cells which accordingly is close / exactly same as BB DNA. From this CVS, i did for thalassaemia test, DNA test for few genetically sickness & to get to know the sex of the BB.. I went through this for my both pregnancy, both of my bb also alpha-trait carrier like us, but they are OK :lol:

Good luck to u!

I am curious. If both got alpha-trait thalassaemia means both got either 1 gene deletion (most Asian got this) or 2 gene deletion. check: http://en.wikipedia.org/wiki/Alpha-thalassemia. The possible scenarios would be:

1. The off spring is thal trait just like the parents. Normal life quality.

2. HbH disease (3 gene deletion), uncommon but prognosis and quality of life generally good.

3. Hydrop fetalis (4 gene deletion) uncompatable with life, usually can be diagnose by ultrasound during antenatal check.

So what's the needs to know the risk of fetus by doing invasive test such as CVS?

Most importantly, the risk can be calculated basically if the parent know their type of thalassaemia.

The worst case scenario is hydrop fetalis which the baby is either incompatible with life, aborted spontaneously or pick up by ultrasound and to be aborted.

In order words, for alpha thal trait, whatever the off spring, the prognosis is very good especially for Asian.

Unlike Down's syndrome, we need to know the exact chromosomal study through amnio so that a decision to make as Down's syndrome may post a significant problem for the couple in bringing up such special child.

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[

I am curious. If both got alpha-trait thalassaemia means both got either 1 gene deletion (most Asian got this) or 2 gene deletion. check: http://en.wikipedia.org/wiki/Alpha-thalassemia. The possible scenarios would be:

1. The off spring is thal trait just like the parents. Normal life quality.

2. HbH disease (3 gene deletion), uncommon but prognosis and quality of life generally good.

3. Hydrop fetalis (4 gene deletion) uncompatable with life, usually can be diagnose by ultrasound during antenatal check.

So what's the needs to know the risk of fetus by doing invasive test such as CVS?

Most importantly, the risk can be calculated basically if the parent know their type of thalassaemia.

The worst case scenario is hydrop fetalis which the baby is either incompatible with life, aborted spontaneously or pick up by ultrasound and to be aborted.

In order words, for alpha thal trait, whatever the off spring, the prognosis is very good especially for Asian.

Unlike Down's syndrome, we need to know the exact chromosomal study through amnio so that a decision to make as Down's syndrome may post a significant problem for the couple in bringing up such special child.

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Hi Yit,

OK, for both parents also alpha-thal carrier, means both of them carrying one "normal" and one "abnormal" pattern with them, our DNA is make by duplicate gene. so when combination of sperm & ovum, each of the characteristic like eyes colors, shape of baby is based on combination of father and mother gene, there are many possiblities, that is why each of our baby is unique with same parents. Some genetic problem which is inherit and silent... we wont able to detect until bb is born.

In my case, there are 25% bb will be exactly normal, 50% bb will be alpha-thal carrier just like me and hb & 25% will be major alpha-thal. Even the risk can be calculated, but we still bare the 25% risk and we may not know are we the lucky or unlucky one. What i did in CVS test to make sure my bb is not falls into the last 25% which is major alpha thal. This is due to the bb is not able to survive means it is either die inside by about 8 or 9 months pregnancy or die just right after give birth coz the serious of abnormalities of the Red Blood Cells shape and formation. Those you all always see in newspaper is major Beta trait thal carrier who can still able to survive till certain of age.

Yes, in my case.. the bb wont be able to survive and will not create any complication/ difficulty in bringing up special care child.. But personally i do think if it is confirmed major alpha thal, i will decide to let it go early rather than carry him and ended up we know he/she definately wont have any chance to survive after born. This test is just for me to make sure the LO is OK and i able to have more relax mind and enjoy the whole pregnancy journey rather than worry till LO born.

Yes you are correct that that you may want to know whether there is alpha thal major / hydrops fetalis or not BUT the hydrops will show up in the serial ultrasound scans from mid trimester. More importantly I had seen mothers who did this invasive test have to abort the babies (Normal babies) because they developed septic miscarriage after carried out the invasive test. So these tests are not without risk.

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