Michael J Sinosich
Douglass Hanly Moir Pathology, Australia
Title: What does first trimester biochemistry tell us?
Biography
Biography: Michael J Sinosich
Abstract
Prenatal screening for assessment of fetal development has been established for almost half a century. Here is a review of our first trimester screening programme. Study group included: i) aneuploid: trisomy 21 (n=128), trisomy 18 (n=52), trisomy 13 (n=14), triploid (n=31), sex chromosome aneuploidies (n=24) ii) failed pregnancies (n=380), iii) fetal structure: anencephaly (n=12), fetal growth restriction (n=11), iv) maternal health: gestational trophoblastic disease (n=13), sub-chorionic bleeding (n=21). PAPP-A, FbhCG and AFP were quantified (DELFIA® DXpress; PerkinElmer) and marker MoM values calculated by LifeCycle v2.2 (Perkin Elmer), using lot specific derived polynomial regression curves. In table median MoM values are presented for three fetoplacental derived markers. A low PAPP-A was associated with poor pregnancy prognosis, including fetal mal development. FbhCG levels were increased in pregnancies carrying Trisomy 21 fetus (2.01+/-0.28), and pregnancies with coexistent trophoblastic disease (21.94+/-66.95. AFP levels were increased in pregnancies which experienced transplacental bleeding (4.06+/-2.79) or pregnancies carrying an anencephalic fetus (1.70+/-0.41). All markers were significantly increased in pregnancies carrying multiple foetuses but not in pregnancies with a demised twin. The above findings confirm: i) low PAPP-A level is the cause for concern requiring assessment of fetoplacental wellbeing, ii) elevated FbhCG level warrants examination of fetal and trophoblast development, and, iii) elevated AFP levels may be due to “leakage” of fetal blood into maternal circulation or to fetal structural maldevelopment, such as, anencephaly.