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EP08.21: Neuropathologic changes associated to prenatal Zika virus infection: a correlation between prenatal ultrasound and postmortem findings
Author(s) -
Gutierrez L.A.,
Sandoval D.K.,
Becerra C.H.,
Diaz L.A.
Publication year - 2018
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.19906
Subject(s) - microcephaly , zika virus , medicine , autopsy , ventriculomegaly , corpus callosum , pathology , fetus , hypoplasia , pathological , cerebellar hypoplasia (non human) , gestational age , pregnancy , pediatrics , cerebellum , anatomy , virology , virus , biology , genetics
beats and pericardial effusion. No calcifications were detected in the brain, liver, spleen, and placenta. Maternal serology for intrauterine infection and tests for ANA, anti-SSA and anti-SSB were negative. Ultrasound at 27 week revealed calcifications in myocardium, caudothalamic groove and liver. At 32 weeks, multiple bilateral thalamic, brainstem, and striatal calcifications were detected with a unilateral parenchymal temporal lobe cyst. Extensive myocardial calcifications were noted with deterioration in cardiac function. In view of the fetal findings and previous family history of the similar presentation and grave outcome, the couple chose to terminate the pregnancy. Amniotic fluid was taken for the AGS genetic analysis. Fetal biallelic mutations in TREX1 gene were detected in the amniotic fluid and the preserved DNA of the previous affected sibling. AGS is a genetic disease associated with a high risk of recurrence. It mimics congenital infection and should be considered in cases with negative TORCH workup. Myocardial calcifications and arrhythmia may be the earliest manifestations of AGS due to TREX1 mutation.