In this retrospective study, we aimed to evaluate the performance of dried-blood-spot (DBS) testing as a diagnostic method for the congenital cytomegalovirus (cCMV). We reviewed the medical records and DBS test results of 89 patients who had also undergone diagnostic cCMV testing within the first 21 days of life. The DBS test had a sensitivity of 83.9%, a specificity of 100%, a positive predictive value of 100%, and a negative predictive value of 73%. Patients with a true-positive DBS had a higher median level of CMV in blood according to PCR than those with a false-negative result. Additionally, all patients with cCMV and hearing loss had a positive DBS test, with higher median viremia levels observed in those with hearing loss compared to those without a CMV PCR blood test. These results suggest that DBS-based testing is useful in the diagnosis of cCMV, and its performance may be related to levels of CMV viremia. DBS testing accurately identified those patients with congenital/early onset hearing loss and those at risk of developing late-onset hearing loss.

Objectives: Congenital cytomegalovirus disease (cCMV) can have significant sensory and neurodevelopmental sequelae throughout childhood. Many of these sequalae are consistent with special education eligibility, but the special education needs of affected children have not been systematically studied. Methods: Retrospective chart reviews from two cohorts of cCMV children receiving care in a large tertiary care children’s hospital were included in this study: a historical research cohort (N = 186, 41% symptomatic at birth) and a contemporary clinical cohort of cCMV patients (N = 112, 68% symptomatic at birth). SNOMED-CT was used to identify ICD-10 codes describing special education-qualifying health outcomes fitting the Individuals with Disabilities Education Act (IDEA) criteria. ICD-10 codes were retrospectively applied to the historical research cohort through manual chart review, whereas the ICD-10 billing codes were extracted from the electronic medical record for all encounters in the contemporary cohort. Results: Of the 56 unique special education-qualifying ICD-10 codes we identified as pertinent to the IDEA, at least one was noted in 39% of those asymptomatic at birth (AcCMV) as compared to 94% of the patients symptomatic at birth (ScCMV). In the contemporary clinical cohort, at least one of these codes was noted in 67% of the AcCMV patients as compared to 95% for ScCMV patients. 61% of patients in the historical and 86% in the contemporary cohort had at least one special education-qualifying ICD-10 code. Developmental, mobility, physical therapy and hearing-related health outcomes were common in both ScCMV and AcCMV patients. Conclusions: Health outcomes qualifying for special educational services occur commonly in children with cCMV, including those who are classified as asymptomatic at birth. The emergence of qualifying conditions beyond the neonatal period among these children suggests that continued surveillance of this vulnerable population throughout early childhood may facilitate the timely identification of health outcomes requiring special educational services.

There has been an unprecedented surge in cases of Congenital Syphilis (CS), the vertical transmission of syphilis from a pregnant individual to their fetus, with over a 10-fold increase over the last 10 years. Infants may present with a wide variety of clinical presentations, with almost every organ system at risk of injury. Further adding to the intricacy of the disease, the majority of infants will be asymptomatic at birth, but due to ongoing inflammation associated with the disease, there may be a myriad of delayed morbid effects that take years to manifest. Diagnosis and management is dependent on a combination of the presence or absence of overt symptoms of the infant, noninvasive serologic examinations of the infant and pregnant individual, certain radiographic images of the fetus in utero or infant postpartum, indirect blood and cerebrospinal fluid markers of the infant, and the timing and adequacy of treatment of the pregnant individual prior to the delivery. This review is meant to help navigate the complexities of the presentation, diagnostic pathways, and treatment decision making processes required for CS.

To identify areas for improvement, this retrospective observational analysis examines syphilis treatment and subsequent follow-up practices amid a nationwide intramuscular penicillin G benzathine (BPG) shortage. Outcomes from 94 neonates confirm the value of BPG in the management of congenital syphilis, reveal opportunities for provider education and highlight the need to reserve BPG for neonates in times of shortage.

Congenital syphilis is a chronic infection acquired by the fetus in utero from a mother infected with Treponema palladium. It has a large spectrum of disease manifestations from asymptomatic infection to blindness, abnormal bone and teeth formation, deafness, or even death. Despite antenatal screening and the availability of effective treatment the incidence of congenital syphilis has risen since 2012, with 23.3 cases per 100,000 live births in 2017 according to the Centers for Disease Control. We sought to investigate the epidemiology, clinical manifestations, and treatment outcomes of congenital syphilis. We undertook a retrospective review of individuals born at Texas Children’s Hospital from January 1, 2010 to May 15, 2021 to evaluate compliance with current diagnostic and treatment recommendations. Diagnostic and billing codes for congenital syphilis were used to generate a list of subjects. Patient demographics and clinical details were abstracted from the electronic medical record (EMR). Statistics were performed using Microsoft Excel. 107 children (52% male, 48% female) were identified from diagnostic and billing codes in the EMR under the SNOMED-CT diagnosis of “congenital syphilis” and were less than two years of age at the time of diagnosis. All received penicillin within one month of diagnosis. 94 of these had a skeletal x-ray performed, with 11 (12%) having an abnormal skeletal x-ray consistent with congenital syphilis. 88 (82%) had a lumbar puncture done with a quantitative CSF VDRL obtained. 88 received aqueous penicillin G for proven/highly probable or possible syphilis. Four patients were deceased at the time of data inquiry. Of those with abnormal skeletal x-rays, “metaphyseal lucency” was the most common finding. Congenital syphilis remains a significant concern in the United States and carries the risk of significant long-term morbidity for infants and children. Antenatal screening with appropriate treatment in pregnancy and adequate follow-up would decrease the need for neonatal evaluation and treatment. C. Mary Healy, MD, Dexcom (Shareholder)Intuitive (Shareholder)Quidel Corporation (Shareholder)Up to Date (Other Financial or Material Support, Honorarium)Vapotherm (Shareholder)