Factor V Leiden and Antiphospholipid Antibodies in Either Mothers or Infants Increase the Risk for Perinatal Arterial Ischemic Stroke

Abstract

Background and Purpose-The objective was to investigate the role of infant and maternal thrombophilia in a cohort of mothers and infants presenting with perinatal arterial ischemic stroke. Methods-Forty-seven infants with clinically and radiologically confirmed perinatal arterial ischemic stroke underwent thrombophilia workup: factor V Leiden (FVL), PII20210A mutation, Methylene-tetrahydrofolate reductase 677T polymorphism, protein C, protein S, antithrombin, FVIII, and antiphospholipid antibodies. Thrombophilia data were available for 23 mother-infant pairs and compared with control populations to evaluate the risk for PAS. Results-Thirty of 47 (64%) infants and 15 of 22 mothers (68%) had evidence of thrombophilia. In 18 of 23 (78%) mother-infant pairs, there was at least 1 thrombophilic risk factor, but 15 pairs were mismatched in pathology. Among infants, FVL, protein C deficiency, and presence of antiphospholipid antibodies prevailed (OR, 4.2; 95% CI, 1.5-11.3; OR, 12.2; 95% CI, 2.5-59.9; OR, 4.1; 95% CI, 1.4 -12.2, respectively). Interestingly FVL prevailed in almost one-third of mothers (OR, 8.5; 95% CI, 4.1-17.5) and 18% of mothers had antiphospholipid antibodies (OR, 3.8l; 95% CI, 1.5-10.0). Conclusions-Maternal

Germinal Matrix Hemorrhage: Intraventricular Hemorrhage in Very-Low-Birth-Weight Infants

“…3,30,31 Nevertheless, we have shown that among the postnatal risk factors, the innate thrombophilia of neonates seems to play a role equivalent to those of postnatal environmental risk factors. The importance of genetic factors may increase over the next few years because we are trying to minimize perinatal environmental risk factors.…”

Thrombophilia risk is not increased in children after perinatal stroke

“…In contrast, our study, which included only those children with persistent, significant APA positivity, found very low prevalence rates and no association with specific perinatal stroke disease states. The role of maternal APAs is less clear; however, the few studies suggesting an association 29,[43][44][45][46][47] have the same limitations described earlier in this section, and the single best acute case-control study in NAIS found no association with APA. 33 That maternal APA positivity has been disassociated from infant positivity in NAIS, 42 and that it is not readily apparent how maternal thrombophilia would lead to cerebral thromboembolism in the fetus or newborn, further calls into question the relevance of maternal APA status.…”

“…Being a commonly performed genetic test with established population prevalence makes previous reports of much higher than expected rates seem significant. [29][30][31][32] As a constant genetic factor present from birth, FVL also avoids potentially complicating, confounding issues of neonatal versus childhood testing and developmental hemostasis. However, our results demonstrated rates of FVL (as well as prothrombin gene mutations) comparable to those in the general population.…”

“…Although multiple studies have suggested this association, 5,22,29,[38][39][40] there have been no well-powered, populationbased, case-control investigations. Importantly, none has confirmed that positive findings are both strong and persistent over time.…”

“…We did not test the mothers of children, although even studies performed acutely have shown inconsistent results, 29,44 with potential abnormalities not persisting to the chronic phase. 42 We did not explore previous suggestions of association between thrombophilia and adverse outcome, primarily for lack of recurrence in our population and no other rationale to associate blood clotting with outcome.…”