Noninvasive prenatal screening could prevent permanent hearing loss in newborns

Findings published in a special issue of ADLM’s Clinical Chemistry journal focused on perinatal diagnostics

WASHINGTON , Jan. 6, 2026 /PRNewswire/ — A new study indicates that noninvasive prenatal screening (NIPS) performed using a low-cost form of whole genome sequencing can detect pregnant mothers at risk for transmitting cytomegalovirus (CMV) — a common herpes infection that can cause permanent hearing loss — to their developing babies.

The findings, which were published today in the Association for Diagnostics & Laboratory Medicine’s (ADLM’s) Clinical Chemistry journal, could help doctors identify which pregnant patients would benefit from receiving antiviral treatment, thereby preventing mother-to-fetus transmission of the virus.

View the full study here: https://doi.org/10.1093/clinchem/hvaf159

In addition to ear damage, CMV can trigger neurodevelopmental delays and other irreversible problems in up to 20% of infants born with it. The infection occurs in about 1 in 150 live births globally. Despite its prevalence, current guidelines do not recommend prenatal screening for CMV, largely because no effective therapies have been available to treat it.

However, that is changing. In 2020, research showed the antiviral drug valacyclovir can reduce CMV transmission by more than 70% when given to infected women in their first trimester of pregnancy. While the Food and Drug Administration has not formally approved valacyclovir for this use, many doctors prescribe it to pregnant patients known to have CMV.

The new study provides powerful evidence that NIPS — which is already routinely used during pregnancy to detect chromosomal abnormalities — can also gauge CMV infection in both mother and baby. Researchers from Belgium led by Dr. Geert A. Martens analyzed NIPS data from 22,333 pregnancies at 12–14 weeks’ gestation between November 1, 2019, and January 1, 2025.

NIPS was done using a cost-effective method called low-pass whole genome sequencing, which assesses a patient’s genetic blueprint. The researchers evaluated the blood samples found to include genetic material from non-human sources like viruses and bacteria for free-floating fragments of DNA (called cell-free DNA) from CMV.

They found CMV DNA in 2.1% (462) of the pregnancies studied. The researchers divided those patients’ blood samples into four groups based on the amount of viral DNA detected, ranging from least to most. They validated this information by comparing it to results gleaned using PCR, the gold-standard method for measuring DNA.

The results showed that the NIPS-derived CMV data showed good diagnostic accuracy for maternal and newborn CMV infections. In other words, a positive CMV result was a strong indicator of infection among mothers (confirmed by antibody testing) and their newborns (confirmed through a systematic screening program). The risk for maternal and newborn (or congenital) CMV infection was highest in blood samples from pregnancies with the most CMV DNA.

“Crucially, our study is the first to directly link NIPS-derived CMV read counts to both maternal serostatus and confirmed cCMV [congenital CMV] outcomes from a systematic newborn screening program, in a real-world high-volume setting of first-tier cell-free fetal DNA screening,” the researchers stated. While more research is needed to flesh out the clinical significance of the findings, these results are promising.

“Given its low cost and high throughput, [the integration of CMV DNA testing] into routine aneuploidy screening is a powerful complement to serology, poised to improve the identification of pregnancies that may benefit from antiviral therapy to prevent cCMV,” the authors wrote.

About the Association for Diagnostics & Laboratory Medicine (ADLM)
Dedicated to achieving better health for all through laboratory medicine, ADLM unites more than 70,000 clinical laboratory professionals, physicians, research scientists, and business leaders from 110 countries around the world. Our community is at the forefront of laboratory medicine’s diverse subdisciplines, including clinical chemistry, molecular diagnostics, mass spectrometry, clinical microbiology, and data science, and is comprised of individuals holding the spectrum of lab-related professional degrees, certifications, and credentials. Since 1948, ADLM has championed the advancement of laboratory medicine by fostering scientific collaboration, knowledge sharing, and the development of innovative solutions that enhance health outcomes. For more information, visit www.myadlm.org.

About Clinical Chemistry
Clinical Chemistry (clinchem.org) is the leading international journal of laboratory medicine, featuring nearly 400 peer-reviewed studies every year that help patients get accurate diagnoses and essential care. This vital research is advancing areas of healthcare ranging from genetic testing and drug monitoring to pediatrics and appropriate test utilization.

Christine DeLong
ADLM
Director, Editorial and Media Relations
(p) 202.835.8722
[email protected]

Bill Malone
ADLM
Senior Director, Strategic Communications
(p) 202.835.8756
[email protected]

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SOURCE Association for Diagnostics & Laboratory Medicine (ADLM)