Korean J Clin Pathol.
1997 Aug;17(4):575-580.
Usefulness of Triple Marker Testing for Prenatal Diagnosis
Abstract
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BACKGROUND: Our purpose was to assess the utility of prenatal triple-marker (alpha- fetoprotein (AFP), beta-human chorionic gonadotropin (hCG) and unconjugated estriol (uE3) testing for chromosomal abnormalities in women with Down syndrome screen-positive results.
METHODS
Total 1,082 women between 15 and 21 weeks' gestation received second trimester Down syndrome risk evaluation by triple marker testing. AFP, beta-hCG and uE3 were measured by Coat-A-Count(R) IRMA (Diagnostic Products Corporation, LA, USA), The risk for Down syndrome was calculated using a commercially available software program (AFP Expert; Benetech Medical System, Toronto, Canada) by use of a Down syndrome risk cutoff value(1:270 at midtrimester). Karyotypes were reviewed for 32 (54.2%) of these patients who received prenatal chromosome analysis.
RESULTS
Fifty nine (5.5%) patients of the 1,082 women screened were identified as positive. Two chromosome abnormalities (47,XYY and 46,XX, int (9) ) were found in the 32 patients who underwent prenatal chromosome analysis (6.3%). Any cases on the abnormal serum tests torn out not to be associated with trisomy 21.
CONCLUSIONS
Although triple marker screen appears to be an effective method detecting chromosome abnormalities there is a high false positive rate. Therefore, new screening test that reduce false positive rate is need to be introduced.