Screening of Down’s Syndrome by serum biochemistry

First Trimester

Since the 1990, first trimester studies have become important. Two markers, Pregnancy associated plasma protein –A (PAPP-A), which is lower in Down ’s syndrome and serum HCG which is elevated, are useful markers.

Second Trimester

Triple test is done at this time to give a clue as to any chances of abnormality. Alpha Feto-Protein (AFP), HCG and unconjugated estriol combined with maternal age constitute this test.

At a 5% false positive rate, the Down’s syndrome detection rates are 69%.

Adding measurement of inhibin-A to the triple test constitutes quadruple test and the sensitivity goes up to 76%.

Ultrasonography is also very useful in the second trimester for this as it picks up structural defects like nuchal translucency, increased neck folds, simian crease etc.
Combing first and the second trimester screening (integrated test) improves the detection rate to 94%.

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