Cerebral calcifications are rare and are associated with fetal infections, such as CMV, rubella, toxoplasma, syphilis, and herpes, as well as with trisomies 21 and 13.
Following the diagnosis, detailed sonographic evaluation for other markers of aneuploidy or intrauterine infection is warranted, together with maternal TORCH titers, followed by amniocentesis for the specific infectious agent as suggested by abnormal TORCH titers.
Further pregnancy and pediatric management is dictated by the specific underlying etiology.
Cerebral calcifications are an unusual sonographic finding in the fetus. They are thought to occur late in gestation and result from localized neuronal-cell death. Intracranial calcifications are most commonly associated with the in utero infections due to the TORCH (toxoplasmosis, other agents, rubella, cytomegalovirus, herpes virus) agents (Ghidini et al., 1989). This chapter covers three types of fetal cerebral calcifications: (1) focal, punctate parenchymal calcifications, (2) periventricular echogenicity, and (3) echogenic blood vessels demonstrated in the thalami and basal ganglia (Estroff et al., 1992).
Fetal intracranial calcifications are rare. Although congenital cytomegalovirus is common [affecting 30,000 to 40,000 infants each year in United States (Ross and Boppana, 2004)], most cases of congenital cytomegalovirus are not associated with cerebral calcifications. One study found fetal brain abnormalities, including intracranial calcifications, in 10 of 39 (20%) of fetuses who were infected congenitally and had prenatal sonographic studies (Enders et al., 2001).
Much of the information regarding the differential diagnosis and outcome for infants with intracranial calcifications derives from the postnatal pediatric radiographic literature. The use of postnatal cranial sonography as an effective means of visualizing intracranial calcifications in newborn infants with congenital infections was first described by Dykes et al. in 1982. She and her colleagues demonstrated the presence of multifocal, high-intensity echoes in infants with infection. What was unusual about this sonographic finding was that there was no acoustical shadowing from these echoes. Subsequently, Teele et al. (1988) noted the unique sonographic finding of bright, branching vessels in the thalami and basal ganglia of 12 newborn infants. This finding was strongly associated with the presence of congenital infection. In this group of 12 infants, 5 had congenital cytomegalovirus (CMV), 2 had congenital rubella, 1 had congenital syphilis, and 3 had trisomy 13 with no known evidence of infection. These findings later were extended by other investigators, including Ben-Ami et al. (1990), who studied 11 infants noted to have bright echogenic stripes in the thalami and basal ganglia. By using duplex sonography, these investigators demonstrated that the stripes derived from the lenticulostriate arteries in the basal ganglia (Figure 9-1). In their study group, 8 of 11 cases were infected in utero, and 1 additional patient had trisomy 13. In a retrospective review of 2320 neonatal cranial sonograms, 25 newborns ...