Please help with genetic counselling

Hi, I am living in Thailand and they really do not have genetic counselling where I live, had a combined test of nuchal screening and blood test.  The results said negative risk for downs syndrome and had 1 in 3000 risk,  but then after it said that based on maternal age alone the risk was 1 in 130. This really confused me. I am 37 years old.

My husband and I are concerned about chromosone abnormalities and not sure if we should have an amnio or not.  We are deciding whether to wait and have the 2nd trimester screening and see what those reults come up with or just have an amnio now instead of later, I was told that it was better to have the amnio around 16 weeks and this is next week. Do the results above sound like a high risk or low risk of downs syndrome. Any thoughts or previous experience would be greatly appreciated!!

Thanks so much!!!

[eureka254]

The nuchal screening combined with blood testing is considered to be about 80-90% in sensitivity for the detection of down syndrome.  Your risk is low as assessed by the screening:  in other words, based on your age alone, your risk for having a baby with Down Syndrome was 1 in 130, just like all women 37 years old.  However, after looking at baby by ultrasound and evaluating the chemicals in your blood, your risk has been reduced to 1 in 3000.  So if we were to put 3000 women all in a room who had your results, only one of them would have a baby with down syndrome.  

The screening is exactly that:  screening.  It is not a definitive test.  The decision whether or not to have an amnio depends on your personal circumstances and where you are in life -- each woman is different.  If you feel you need to know for sure whether or not the baby has a chromosomal abnormality, amniocentesis gives a diagnosis, whereas the screening is an estimation of risk only.  Keep in mind that there is some risk (though small) with amniocentesis, and you also need to think about whether or not the information from an amniocentesis would benefit you and assist you in the management of the pregnancy.

Best of luck to you!
~eureka