ArticleEBioMedicine2024
Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing.
Article in EBioMedicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 16 citations in OpenAlex.
- Toward point-of-care and amplification-free detection of human cytomegalovirus using CRISPR-Cas12a.iScience · 2026Article
- Maternal Cytomegalovirus Viral Load Correlates With the Risk of Congenital Infection and With Antiviral Therapy Response in Early Pregnancy.Open forum infectious diseases · 2026Article
- A comprehensive toolkit for analyzing cell-free DNA genomic sequencing data in liquid biopsy.iScience · 2026Article
- The Management of Congenital Cytomegalovirus Infection in an Era of Universal Newborn CMV Screening.Reviews in medical virology · 2026Review
- Clinician perspectives on patient consent for metagenomic next-generation sequencing of blood samples for the diagnosis of infection in clinical practice.Journal of medical microbiology · 2026Article
- Expanding the scope of non-invasive prenatal screening.Nature genetics · 2025Review
- Current status of primary, secondary and tertiary prevention of congenital cytomegalovirus disease: a call to action.Current opinion in infectious diseases · 2025Review
- Cytomegalovirus Infection Screening in Pregnant Women from Northwest Romania: Results of a 15-Year Follow-Up Program.Microorganisms · 2025Article
- Review
- Screening and prenatal diagnosis of fetal cytomegalovirus infection: experience in a western Chinese city.BMC infectious diseases · 2025Article
- Detection of human cytomegalovirus cell-free DNA in pregnant women with symptomatically infected fetuses: proof-of-concept study.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2025Article
- Current evidence gaps to support systematic cytomegalovirus screening in pregnancy.EClinicalMedicine · 2024Review
- Genetic Screening-Emerging Issues.Genes · 2024Review
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrenatal hCMV infections can lead to severe embryopathy and neurological sequelae in neonates. Screening during pregnancy is not recommended by global societies, as there is no effective therapy. Recently, several groups showed that maternal-fetal hCMV transmission can be strongly reduced by administering anti-viral agents early in pregnancy. This calls for a screening method to identify at risk pregnancies at an appropriate gestational age, with the possibility for large-scale enrolment. Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidy screening early in pregnancy is already implemented in many countries and performed on a large-scale basis. We investigated the use of whole genome cell-free DNA (cfDNA) sequencing data, generated for the purpose of NIPT, as (pre-)screening tool to identify women with active hCMV-infections, eligible for therapy.
methodsCoded raw sequencing NIPT data from 204,818 pregnant women from three testing laboratories were analyzed for the presence of hCMV-cfDNA. Samples were stratified by cfDNA-hCMV load. For validation and interpretation, diagnostic hCMV-qPCR and serology testing were performed on a subset of cfDNA-hCMV-positive (n = 112) and -negative (n = 127) samples.
findingsIn 1930 samples (0.94%) hCMV fragments were detected. Validation by hCMV-qPCR showed that samples with high cfDNA-hCMV load tested positive and cfDNA-hCMV-negative samples tested negative. In 32/112 cfDNA-hCMV-positive samples (28.6%) the serological profile suggested a recent primary infection: this was more likely in samples with high cfDNA-hCMV load (78.6%) than in samples with low cfDNA-hCMV load (11.0%). In none of the cfDNA-hCMV-negative samples serology was indicative of a recent primary infection.
interpretationOur study shows that large-scale (pre-)screening for both genetic fetal aberrations and active maternal hCMV infections during pregnancy can be combined in one cfDNA sequencing test, performed on a single blood sample, drawn in the first trimester of pregnancy.
fundingThis work was partly funded by the Prenatal Screening Foundation Nijmegen, the Netherlands.
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