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This case report presents a late preterm infant diagnosed with severe cerebellar hypoplasia and microcephaly secondary to congenital cytomegalovirus (cCMV) infection. Initially suspected to have Dandy-Walker malformation, postnatal MRI revealed significant cerebellar hypoplasia, without other typical cCMV findings. The diagnosis was confirmed by the presence of CMV in serum and urine.

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Outcomes of a Population-Based Congenital Cytomegalovirus Screening Program.

JAMA Pediatr

January 2025

Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

Importance: Detection of congenital cytomegalovirus (cCMV) infection has previously relied on targeted screening programs or clinical recognition; however, these approaches miss most cCMV-infected newborns and fail to identify those infants who are asymptomatic at birth but at risk for late-onset sensorineural hearing loss.

Objective: To determine the feasibility of using routinely collected newborn dried blood spots (DBS) in a population-based cCMV screen to identify infants at risk for hearing loss and describe outcomes of infants screened.

Design, Setting, And Participants: This diagnostic study of a population-based screening program in Ontario, Canada, took place from July 29, 2019, to July 31, 2023.

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Objective: To determine outcomes at birth and postnatal sequelae of congenital cytomegalovirus (cCMV) infection following maternal primary infection in the first trimester with normal fetal brain imaging at midgestation.

Methods: A retrospective, single-center cohort study was conducted, including all cases of proven cCMV infection following maternal primary infection in the first trimester from 2014 until 2021 and normal fetal brain imaging before 22 weeks of gestation. All pregnancies were followed according to our protocol, which offers amniocentesis at least 8 weeks after the onset of infection, serial ultrasound scans, and a fetal MRI in the third trimester.

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Progress and Challenges in the Management of Congenital Cytomegalovirus Infection.

Clin Pract

November 2024

Department of Medical Microbiology, Medical University of Warsaw, Chalubinskiego 5 Str., 02-004 Warsaw, Poland.

Congenital cytomegalovirus (CMV) infection is the most common intrauterine viral infection with a significant impact on the foetus and newborn. Current diagnostic practice includes serological testing for specific antibodies, but there are no global screening protocols. Maternal CMV screening is often performed in conjunction with antenatal ultrasound.

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Article Synopsis
  • - Cytomegalovirus (CMV) is a common herpes virus that usually causes mild or no symptoms in healthy people but can lead to serious complications in those who are immunocompromised or newborns, causing disabilities.
  • - A four-month-old girl presented with decreased feeding and severe anemia; lab tests revealed low blood cell counts and a urine CMV PCR test showed extremely high viral load, indicating CMV-related bone marrow suppression.
  • - She was treated with the antiviral drug valganciclovir, resulting in improved blood parameters, highlighting the importance of recognizing CMV infections in cases of anemia or low blood cell counts in infants for better outcomes.
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