Abstract
Intracranial hemorrhage (ICH) is reported in premature infants and rarely, in prenatal life. Fetal ICH can be accurately identified in utero and categorized by antenatal sonography and/or MRI. Infectious disease, maternal drug exposure, alloimmune thrombocytopenia, maternal trauma, coagulation disorders and twin-to-twin transfusion syndrome can cause fetal ICH. However, in many cases, the cause is not identified and a genetic disorder should be taken into consideration. We conducted a review of the literature to investigate what we know about genetic origins of fetal ICH. We conducted targeted research on the databases PubMed and EMBASE, ranging from 1980 to 2020. We found 311 studies and 290 articles were excluded because they did not meet the inclusion criteria, and finally, 21 articles were considered relevant for this review. Hemostatic, protrombotic, collagen and X-linked GATA 1 genes were reported in the literature as causes of fetal ICH. In cases of ICH classified as idiopathic, possible underlying genetic causes should be accounted for and investigated. The identification of ICH genetic causes can guide the counselling process with respect to the recurrence risk, in addition to producing relevant clinical data to the neonatologist for the optimal management and prompt treatment of the newborn.
Highlights
Intracranial hemorrhage (ICH) is reported in premature infants but may occur, rarely, in prenatal life as well
We came by 311 studies, but out of those, 290 articles were excluded because they included post-natal ICH, unrelated to the genetic causes of ICH or based on experimental models
When fetal hemorrhage is diagnosed, a prompt inquiry into the genetic profile of disorders related to ICH must be performed, beginning from family history
Summary
Intracranial hemorrhage (ICH) is reported in premature infants but may occur, rarely, in prenatal life as well. The reported incidence of in utero ICH varies from 1/100,000 up to 1/1000 [1]. The classification of ICH includes five types according to the site of the lesion: intraventricular (IVH), subarachnoidal, intraparenchymal, cerebellar and subdural hemorrhage. IVH is the most common variety of neonatal ICH, due to the characteristics of the immature brain. They are subdivided into four grading, based on the extent of the lesion: the first three grades are limited to the ventricles, while the fourth grade includes parenchymal involvement. Vascular connection between germinal matrix and the subependymal venous network, which are bleeding sites in IVH, is clearly present only after 20 weeks of gestation [2]
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