MTHFR C677T and A1298C polymorphisms and cerebral stroke in two twin gestations

Abstract

Our observations underline the necessity to make a thrombophilia workup in women before or during pregnancy and, above all, in twin pregnancy. Data of literature are not clear about what kind of genetic polymorphism is prominent in the genesis of cerebral stroke (factor V leiden, MTHFR, activated protein C resistance, factor II G20210A). A multifactorial genesis for severe fetal and perinatal cerebral vascular alterations has been supposed; for this reason an early folate supplementation both to mother and infant could reduce the risk of brain damage due to fetal/perinatal stroke and eventual recurrence of thrombotic events.

The importance of MTHFR polymorphisms in pediatric cerebral stroke

“…Kenet et al [5] conducted a systematic search of various electronic databases for studies published from 1970 to 2009 and found that hyperhomocysteinemia but not MTHFR polymorphisms identifies individuals at increased thrombotic risk. Both of the reported cases by Arpino et al [1] did not show hyperhomocysteinemia, considering that the MTHFR polymorphisms do not have any effect on the cerebral stroke. As a conclusion, we would like to vigorously emphasize that MTHFR polymorphisms without hyperhomocysteinemia do not have any importance on cerebral stroke.…”

“…Dear Editor, We read with great interest the recent article of Arpino et al [1] on two children with stroke associated with methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphism in perinatal period. The authors reported two children presenting with presumed cerebral stroke born from two monochorionic twin pregnancies in which the other co-twin had died in utero associated to maternal and fetal homozygosity for MTHFR C677T and MTHFR A1298C, respectively.…”

Is the 1298A>C polymorphism in the MTHFR gene a risk factor for arterial ischaemic stroke in children? The results of meta-analysis

“…Homocysteine levels can be reduced from 25 to 30% using folic acid, and supplementation with vitamin B12 provides an additional 7% reduction [43]. Arpino et al [44] suggested that early folate supplementation before and during pregnancy could reduce the risk of brain damage due to foetal/perinatal stroke. For practical reasons, establishing homocysteine levels in paediatric patients with the 1298A>C polymorphism and administration of folic acid and cobalamin could also prevent some cardiovascular events in the future [45].…”

Neurological impairment in a surviving twin following intrauterine fetal demise of the co-twin: A case study

“…For example, it has been demonstrated that there is an association between two methylenetetrahydrofolate reductase (MTHFR) polymorphisms and vascular and thrombotic events in pregnancy. Based on this information, mothers who are found to be carrying multiple fetuses may warrant a thrombophilia work-up [14].…”

“…Until then it would be wise to closely monitor those with multiple gestation pregnancies, especially those with complications or risk factors. As previously mentioned, mothers of twin pregnancies should undergo a thrombophilia workup [14]. Additionally, mothers who undergo intrauterine fetal demise of one twin should be counseled about the risk of neurological impairment in the surviving twin.…”