CONTINUING EDUCATION :: WOMEN’S HEALTH


appear healthy at birth, but up to 20% of these babies may die due to complications from the infection. Later in life, children with CMV may suffer developmental delays and hearing loss — congenital CMV is the leading cause of non-genetic sensorineural hearing loss and neurodevelopmental abnormalities in infants. Saliva swabs and urine are the preferred sample types for testing newborns for CMV infection. Testing must be performed before the neonate is 21 days old given, after that timeframe, CMV infections may be acquired via environmental exposure. The possible long-term sequelae associated with congenital infection is much more severe than if the infection is acquired post-birth, so knowing the timing of infection is critical for appro- priate support. If saliva is used for the initial testing, confirmatory testing with urine is required since CMV seropositive mothers can shed CMV in their breastmilk, potentially contaminating a neonatal saliva swab after a baby has breastfed. Symptom- atic congenital CMV infections can be treated with antiviral medications like ganciclovir and valganciclovir. Treatment can potentially decrease the severity of long-term impacts such as hearing loss and developmental delays, and is most efficacious when administered within the first 30 days post-birth.15,16 While the risk of mother-to-baby transmission would argue


for universal CMV screening of pregnant women, historically there have not been tests available with sufficient sensitivity and specificity to make this approach helpful or actionable.17 Most laboratory tests currently available to identify a first-time maternal infection can also be challenging to interpret and cannot predict if the fetus may become infected. Because of this, routine screening for primary CMV infection in pregnant women is not recommended in the United States, even when it is part of TORCH


screening. In cases where there is strong reason to believe a mother has been infected with CMV, maternal infection and transmission risk may be assessed through antibody testing. Molecular diagnostics for CMV is recommended to detect the virus in the developing fetus and newborns. Fetal diagnosis can be made with amniocentesis using CMV PCR after 21 weeks of gestation. The standard laboratory test for diagnosing congenital CMV infection in newborns is PCR using saliva swabs with urine collected and tested for confirmation.15


As molecular diagnostic


developers continue to expand the number of infectious diseases their tests cover, new options for CMV testing are emerging. As these tests are evaluated and validated through clinical studies, molecular CMV assays to diagnose congenital CMV infection will likely be more broadly available.


Sample-to-Answer systems For most molecular tests mentioned above, there are many combinations of reagents, kits, and analysis platforms to produce the desired information. Many clinical labs choose to design and validate their own laboratory-developed tests (LDTs) to suit their testing needs. These can be designed on the lab’s platform of choice, making it possible to introduce new tests without investing in new instrumentation. However, LDTs are not the right choice for all labs. Smaller laboratories that lack deep experience in assay development or where extensive molecular workflows are not common, may prefer to use an FDA-cleared kit.


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A recent trend among molecular diagnostic developers has been in response to lab professionals seeking easier-to-use systems that require less hands-on time. These instruments are often known as “sample to answer” or “sample in, answer out.” As the name suggests, sample-to-answer systems handle all the processing steps internally, from sample preparation to thermal cycling and analysis. Currently available sample-to-answer systems offer low to medium throughput, making them a good option for lower- volume testing needs. They are typically not a viable alternative for testing workflows where labs need to run hundreds or even thousands of samples at a time. For tests where such high-volume capacity is not required, sample-to-answer systems can allow labs to expand their test of- ferings quickly without investing in new equipment or validating a new process each time. Some systems are designed to perform all of the benchtop steps for molecular diagnostics within a sample- to-answer workflow. Some of these systems are designed to work with cartridges that perform both the extraction and amplification steps, and other systems eliminate the extraction process altogether through direct testing. There are several sample-to-answer systems available today that offer different cartridges or kits for HSV1/2 and GBS testing as well as for congenital CMV. Because these tests are developed by diagnostic manufacturers and are FDA-cleared as in vitro diagnostics, they do not require the extensive internal development and validation needed for LDTs.


Conclusion In the arena of women’s health focused on pregnant women and their developing babies, molecular diagnostics offer sig- nificant advantages compared to the previous gold standard of culture-based testing. Molecular assays allow clinical laboratory teams to generate answers faster, test more comprehensively, and expand their test menus to meet the needs of their patient population. For HSV1 & 2, GBS, and CMV testing, molecular diagnostics are attractive alternatives to other more laborious and time-consuming assay techniques.


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