The effect of hereditary versus acquired thrombophilia on triple test Down's syndrome screening

To compare the profile of mid gestation triple test serum markers between a cohort of women with history of pregnancy complications with hereditary versus acquired thrombophilia. All were treated with low molecular weight heparin (LMWH) prior to 12 weeks' gestation.

A retrospective analysis of second trimester maternal serum screening results for Down syndrome was performed comparing women with inherited versus acquired thrombophilia, all treated with LMWH. The test results were calculated from the combination of triple serum markers and maternal age, and expressed as a multiple of the gestation normal medians (MoM). Results in the study groups were compared with MoM values calculated from our local population (controls).

The median human chorionic gonadotropin (hCG) level was higher only in the acquired thrombophilia group (N = 47) as compared with the control group (1.3 vs. 0.99 MoM, P = 0.005), and not different between the hereditary thrombophilia group (N = 60) (1.1 MoM) and the control group. Alpha-fetoprotein and unconjugated estriol MoMs did not differ between women with inherited (0.95, 0.97), acquired thrombophilia (0.99, 0.90), and controls (1.01, 0.98), respectively.

In the interpretation of second trimester maternal serum screening, consideration should be given to the higher hCG maternal serum levels that may occur in women with acquired thrombophilia, even those treated early in pregnancy with LMWH. The higher hCG serum levels may signal the possibility of placental dysfunction, rather than fetal aneuploidy.