The problem with the quad screen/AFP test is that it gives you numbers, but they really aren't definitive. For example, a "normal" test might come back that your chances of having a child with Down's are 1 in 3000, but an elevated risk may be 1 in 50. Someone would call 1 in 50 results positive, although they're not actually positive at all - they're just an elevated risk. That said, there are many people whose tests come back within the elevated range who have perfected normal, Down Syndrome-free children. There are also people whose tests come back within the normal range that end up having a child with Down Syndrome (my sister is one of them).
The next sonogram will be detailed, and they'll check for certain markers of Down's Syndrome. Four of the big ones are:
- the thickness of the nucheal fold (the back of the neck)
- the length of the femur
- the four chambers of the heart (many children with DS have heart defects, so you want to see all four chambers of the heart in a U/S)
- the internal organs (many children with DS have other issues with organs, so they want to see all of the organs - stomach, kidneys, bladder)
It's really scary to get that elevated risk, but there are many, many people who have an elevated risk but have perfectly normal children. Tell your friend to keep away from the internet horror stories, because the internet can feed you lots of scary information. Tell her to stay positive, because her baby is probably fine. And even if her baby does have Down's, as scary a diagnosis as it is, the children are amazingly wonderful.