Need Urgent Advice – Down’s Screening

No.1 is a beautiful baby and is turning 1 in a few days. We are expecting No.2 EDD March 2008.


We started our pre-natal checks last week (No.2 is an accident) and blood test results stated the baby may have Down’s syndrome. The cut off is 1:250 and the results state 1:81. The doctor suggested doing additional tests to verify the results again.


We are a healthy (age 31 & 28) couple who does not smoke, drink or do drugs. As mentioned, No.2 is an accident and we did consume limited alcohol in social events.


My questions:

1. Is blood test a reliable tool to screen Down’s?

2. What other proven tests should we do?

3. When is the latest to terminate the pregnancy if it is positive?


Thanks.

Normally the blood test result, nuchal fold scan result and maternal age is used together to determine the liklikhood of DS. Nuchal fold scan is normally done arond 12-14 weeks.


The ONLY definitive way of knowing whether the baby has DS is to do an amnio. This is normally done if the mother is over 35 or the nuchal/blood results warrant further investigation.


The latest a termination can be performed in Hong Kong is 24 weeks. Not sure if it's different over the border (I note you're in Shanghai).

My blood screening for my first child was on the high side for down's.Basically my doctor told me at 25yrs I had the readings of a 35yr old.I did not have further tests as I was not going to abort anyway and the scan results look good.It made for a somewhat unsettling pregnancy though.With my second my doctor told me that there is a high incidence of false positives from the blood screening for Down's and because of that I chose not to have these tests in either my second nor third pregnancy.I have three healthy children.Personally I would go by the nuchal fold scan result.


Wishing you all the best with your pregnancy

Downs Syndrome is a due to genetics and not the alcohol you may or may not have consumed so go easy on yourself. But as the above go for the nuchal, or get a second opinion before making your decision. Good luck.

There is another form of screening called a CVS, which is similar to the Amnio - except it screens from the placenta, not amnio fluid, and can be done at 12 weeks with the results available within 24hrs. It apparently carries a slightly higher risk of MC, but worth it if you need 100% certainty. I'm not sure what date the nuchal fold test can be done, but that's the other good form of screening.

Don't worry about the alcohol at that stage as Katclarke says - this will not impact DS

Best of luck with your pregnancy

You sound very worried about this! There is tons of info on the internet about Down Syndrome (not Down's) so do educate yourselves about it. I know a number of families with loving healthy children with Down Syndrome and they are so overwhelmingly glad that they did not abort their babies.

Take care and don't guilt yourselves about the alcohol too. It's just one of those genetic things and there is a large chance that the baby growing in you is just fine. Hugs!

Hopefully the doctor explained how they determined the numbers they gave you and what they mean. Your age is still the most important factor in determining the number, i.e. the test is relying on statistics in a large part. False positives occur in up to 8% of these tests. Another factor that often throws off these numbers is fetal age. If you were not planning for the baby, maybe you do not have an exact conception date? You need either the CVS or an amnio that will actually be testing DNA, not just levels of proteins in your blood to be sure. I have personally known two women who had this test come back positive, one 34 at the time and one 34 and 36 at the times of testing. Both saw the pregnancy through, one refusing to do any more tests that would determine Down's at all for religious reasons. The other actually had it come back positive with BOTH of her sons. All three children are beautiful, healthy, perfect, intelligent, etc. PLEASE get a DNA test on the baby before making any decisions. According to this test, you have a 1 in 81 chance of having a baby with this disorder - why rely on such a large margin of error when we have the technology to give you an exact answer? All the best to you in this difficult time. After being with my friends, I know it is hell, but please do not give up hope on this little one.

Thank you very much for all your replies, especially to silopanna.


As Ruth may know, we just had a baby this time last year. Thereafter, my wife had a 45-day cycle before conceiving again. According to simple calculations, the fetal is 20 weeks based on a normal 30-day cycle. After 3 scans, it revealed the fetal age is 17 weeks, thus blood test results is not reliable as it was conducted for a 20 week fetal.


Yes, we are planning no.2 soon so our baby girl will have a playmate but never have we expected so soon! Nevertheless, we are very excited. Cheers!

You're welcome! Best wishes for a healthy pregnancy and healthy baby :)

Hi alvineki


I am sorry to hear that you are facing such a problem. I know very well the feeling cos I had have a abortion 2 months ago. My husband and I had experienced the most terribly time in our life. Our baby was 15 weeks and the dr had detected some abnormality through scan (ecographie in french, i am living in france, so i don't know quite well the term in Eng). I had done a biopsy of the placenta and the gyne confirmed that my baby had suffered from trisomy 18. ie she could develop inside my womb, but her life expectancy is low after birth, saying 1 day, 1 week or 1 year. At the same time she would suffer from the malfunction of her organs, difficult to breath, to eat, etc once she is borned. So, we have decided, with a lot of help from psychology, dr, and even the priests, to have an abortion and to leave her in peace.


However, I don't mean to scare you from our experience, you and your wife could have a perfect health baby, cos the chance to have such kind of abnormality is very low. I just wanted to address some points for you to consider:

the exam taking some sample of the placanta could be good when the pregnancy is at early stage. Disregard there are some risks of miscarriage for this test, I strongly suggest to have some kinds of DNA test, cos abnormaity of chromosome could have 3 types: chromosome 13, 18 et 21. only the abnormaity of 21 causes down syndrome and the rest of 2 types will cause a serious malfunction of the developement of the bb. So, it is important to know which types to make a sound judgement.


I hope everything turns out to be fine for you and your wife. Best wishes for you and your family.

Has anyone done an amnio based mainly on advanced maternal age? The results of my first trimester screen (nuchal scan and blood test) came back over the cut-off of 1 in 250, but still 1 in several hundred rather than 1 in several thousand. As I am 39, I am wondering if it is worth doing the amnio anyway. I'm terrified of the miscarriage risks but really like the reassurance. I'm also considering the integrated screen test, if it is available, to get more information. Has anyone done this and is it useful in making a decision? Any advice much appreciated.