Role of determination of hyperglycosylated HCG in prenatal diagnosis of Down syndrome

Shirali, S.; Abyaz, S.; Mirlohi, M.
June 2014
Iranian Journal of Reproductive Medicine;Jun2014 Supplement, Vol. 12, p80
Academic Journal
Introduction: Down syndrome is a genetic condition that occurs in approximately one in 691 live births. It is considered the most common chromosomal syndrome; therefore, prenatal diagnosis of this anomaly is important. Down syndrome screening is most often performed using the triple test: a-fetoprotein (AFP), 4 unconjugated estriol (uE3), and human chorionic gonadotropin (HCG). Moving screening into the first trimester has the advantage of earlier diagnosis. Hyperglycosylated human chorionic gonadotropin (HhCG) is a glycoprotein hormone secreted during embryonic implantation and trophoblast invasion of the uterine wall. Because the cytotrophoblasts are primitive and invasive in nature, HhCG is also called invasive trophoblast antigen (ITA). Invasive trophoblast antigen is a promising marker that can be measured in urine or serum. Materials and Methods: For study of relationship between ITA and Down syndrome we searched in PubMed, Sciencedirect, and Google scholar with key word for ITA, HhCG, and Down syndrome Results: Using IRMAs and ELISAs, investigators showed that A)HhCG rapidly increases in early pregnancy, attaining substantially higher concentrations and decreasing earlier than hCG; B) HhCG is increased in Down syndrome- affected pregnancies in both the first and second trimesters; and C) the HhCG:hCG ratio appears to be higher in those with invasive- noninvasive trophoblastic disease. Conclusion: Data indicate preliminary confirmation of the potential usefulness of urinary ITA measurements in detecting Down syndrome in a setting that simulates routine usage Serum ITA appears to be a useful first trimester Down syndrome marker that could replace of other markers mentioned.


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