Accuracy of PAPP-A Level in the First Trimester of Pregnancy in predicting Genetic Syndromes

Background: Pregnancy-associated plasma protein A (PAPP-A) is an important pregnancy protein. PAPP-A exists in pregnancy serum as a heterotetrameric 2:2 complexwith the proform of eosinophil major basic protein (proMBP), forming an approximately 500 kDa and called PAPP-A/proMBP. In particular, low maternal serum pregnancyassociatedplasma protein-A (PAPP-A), at 11–13 weeks of gestation, is associated with stillbirth, infant death, intrauterine growth restriction, preterm birth, and pre-eclampsia inchromosomally normal fetuses, while a raised nuchal translucency is associated with specific structural abnormalities and genetic syndromes. Objectives: We aimed to show that PAPP-A marker in comparison of the other markers could predictable.Materials/Patients and Methods: In the present study we try to investigate the accuracy of PAPP-A level in maternal blood in predicting genetic abnormalities. For this purpose,total of 610 pregnant women whose were referred to Dr. Bazrafshani genetic lab for amniocentesis during 2016-2017 were selected. Results: In this study we selected 610 patients with high-risk in detection trisomy 13, 18 and 21 in first trimester. Among them, we diagnosed genetic abnormality in 19 samples including 11 cases with Down syndrome, 3 cases with Edward syndrome 1 cases with Pauto syndrome and the rest had sexual abnormalities. Then we considered all screening markers particularly PAPP-A in order to assessed relation between PAPP-A and occurrence common genetic disease. Finally, the data could not show significant relationship Conclusion: Based on these results we concluded that may be PAPP-A is not enough accurate item for detecting genetic abnormalities. Although PAPP-A level is a screening not diagnostic test, these major false positive results could lead to very big problems.

Keywords:

PAPP-A , Amniocentesis , Genetic abnormalities