Abstract
Human cytomegalovirus (HCMV) primary infections of pregnant women can lead to congenital infections of the fetus that could have severe impacts on the health of the newborn. Recent studies have shown that 10–100 billion DNA fragments per milliliter of plasma are circulating cell-free. The study of this DNA has rapidly expanding applications to non-invasive prenatal testing (NIPT). In this study, we have shown that we can detect viral specific reads in the massively parallel shotgun sequencing (MPSS) NIPT data. We have also observed a strong correlation between the viral load of calibration samples and the number of reads aligned on the reference genome. Based on these observations we have constructed a statistical model able to quantify the viral load of patient samples. We propose to use this new method to detect and quantify circulating DNA virus like HCMV during pregnancy using the same sequencing results as NIPT data. This method could be used to improve the NIPT diagnosis.
Highlights
The use of fetal cell-free DNA for aneuploidy screening has spread rapidly since 2011 in clinical practices
Human cytomegalovirus (HCMV) maternal primary infection during pregnancy could lead to a congenital infection and could have severe clinical complications for the newborn: sensorineural hearing loss (SNHL), visual impairment, motor and cognitive defects or transient symptoms like hepatosplenomegaly, thrombocytopenia and jaundice[6]
These observations suggest that the presence of viral DNA in a biologic sample does not impact the total number or the quality of reads obtained after massively parallel shotgun sequencing (MPSS)
Summary
The use of fetal cell-free DNA (cfDNA) for aneuploidy screening has spread rapidly since 2011 in clinical practices. HCMV maternal primary infection during pregnancy could lead to a congenital infection and could have severe clinical complications for the newborn: sensorineural hearing loss (SNHL), visual impairment, motor and cognitive defects or transient symptoms like hepatosplenomegaly, thrombocytopenia and jaundice[6]. The overall prevalence of congenital HCMV infection has been estimated to be 0.7%7 with the highest transmission rate occurring after primary infection of immunonegative women. HCMV reactivation or reinfection in immunized women may lead to fetal transmission of the virus, but the transmission rate is unknown. Ultrasound fetal abnormalities can indicate a congenital infection and could be detected with a suitable follow-up of women at risk of seroconversion during their pregnancy. If ultrasound is one of the best markers of congenital HCMV infection, the signs are not specific and are not always present[18,19]
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