Abstract

To evaluate the role of a risk reassessment protocol in reducing the need for invasive prenatal diagnosis for Down syndrome. All patients who screened positive for the risk of fetal Down syndrome either at the first trimester screening or second trimester serum screening were offered an option of risk reassessment. The protocol includes non-directive counseling for options of multi step screening process like second trimester serum screening or a genetic sonogram as appropriate for their gestational age. Post test counseling was done after integrating the results of the multi step screening process and then a decision for invasive testing was taken. Out of 648 screen positive women, invasive testing was carried out in 240(37%) with the rest opting against invasive testing after risk reassessment. There were 11 cases of trisomy 21, all of which were detected after invasive testing. There were no cases of Down syndrome in the women who opted to avoid invasive testing following risk reassessment. The risk reassessment protocol reduced the need for invasive prenatal diagnosis without leading to any fall in detection rate of Down syndrome.

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