The Impact of Inherited Thrombophilia on First Trimester Combined Aneuploidy Screening Parameters

Abstract Objective. To investigate the impact of thrombophilia on pregnancy-associated plasma protein A (PAPP-A) and human chorionic gonadotropin (hCG) and the nuchal translucency (NT) during the first trimester of the pregnancy. Material and Methods. A case-control research study was conducted at a prenatal outpatient unit of a tertiary referral hospital in Burgas, Bulgaria, between January 1st, 2021 and March 31st, 2023. A total of 309 pregnant women patients with congenital thrombophilia took part in the experimental research of the study, while 150 healthy pregnant women patients without evidence of thrombophilia were the control sample. Results. A statistically significant difference in the pregnancy-associated plasma protein A (PAPP-A), t(369) = 1.028, p < 0.05 between the two groups, with the experimental group reporting lower multiples of median (MoM) values as compared to the control group. The results showed statistically significant differences in the median values of PAPP-A and NT between the different types of inherited thrombophilia but no statistically significant difference in the median values of HCG. The results showed no statistically significant difference in age, gravidity, or parity between the experimental and control groups. Conclusion. The first trimester combined aneuploidy screening parameters are important in prenatal detection of the pregnancy status for identification of any variations in terms of chromosomal and fetal structural anomalies. Inherited thrombophilia adversely impacts the aneuploidy screening parameters during the first trimester of pregnancy.