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What Does An Abnormal Biochemical Markers Test Report Indicate?
I have just completed my first trimester screening test. The scan was normal. NT was 1.7mm. However the biochemistry test markers indicate an increased risk for Downs Syndrome. Is it normal to have contradictory results like this. I was under the impression that an increased risk would show up in the scan as well as the blood test
Tue, 26 Dec 2017
Hi there, I have understood your concern and I will suggest you the best possible treatment options.
Usually, one needs to consider clinical history like your age, history of previous pregnancy and any significant family history, before going ahead with any conclusion.
You are right in saying that there is obvious disparity between USG markers and blood tests.
As such blood tests have more predictive value than USG alone ( NT) .
In a dilemma like this, I will suggest you to visit and get counseling from genetic medicine consultant. Usually, in such cases either chorionic villous biopsy or amniotic fluid testing with chromosomal study is done. This will be of help to prove or rule out chromosomal disorders for sure.
I hope this answer helps you.
Thanks.
Dr. Purushottam Neurgaonkar
Usually, one needs to consider clinical history like your age, history of previous pregnancy and any significant family history, before going ahead with any conclusion.
You are right in saying that there is obvious disparity between USG markers and blood tests.
As such blood tests have more predictive value than USG alone ( NT) .
In a dilemma like this, I will suggest you to visit and get counseling from genetic medicine consultant. Usually, in such cases either chorionic villous biopsy or amniotic fluid testing with chromosomal study is done. This will be of help to prove or rule out chromosomal disorders for sure.
I hope this answer helps you.
Thanks.
Dr. Purushottam Neurgaonkar
I find this answer helpful
An increased risk in biochemical tests with normal NT can be seen. You simple have to go for a detailed anomaly scan at 20 weeks with 2 and trimester blood tests for screening. If NT and 1st trimester tests both are positive then there is 80% risk of downs however if NT is normal, the risk is significantly low. So go for 2 and trimester testing and anomaly scan for surity
I find this answer helpful
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