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Combined First-Trimester Screening (PAPP-A) – The first trimester screening is a combination of tests for PAPP-A, hCG and nuchal translucency that are used to assess the risk that the fetus a pregnant woman is carrying has a chromosome disorder such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18). The first trimester screen is one of the options you may be offered for prenatal Down syndrome screening. Other options include the second trimester maternal serum screen and the cell-free fetal DNA test. 

One advantage of the first trimester screen is that it gives expecting women the option of earlier screening. However, the first trimester screen does not assess risk of neural tube defects such as spina bifida. This may be assessed in the second trimester as part of the maternal serum screen (triple or quad screen) or on its own. 

Our genetic counselor can explain the meaning of the results and offer choices about follow up should interpret the screening results. 

It is important to remember that positive screening tests are not diagnostic of fetal abnormalities. While they do indicate an increased risk, only a very small number of women with a positive first trimester screen have babies who actually have a chromosome disorder.

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