Asymptomatic Newborns Research Articles

Management of newborns at increased risk for early-onset sepsis in perinatology department

Introduction Assessing newborn infants at risk for early-onset sepsis (EOS) is a common clinical task conducted by pediatricians. A change in the internal protocol for managing neonates at risk was implemented in 2016. Unlike the previous protocol, which determined laboratory testing in asymptomatic newborns in the presence of one risk factor (RF) for sepsis; the new protocol advocates the screening in the presence of at least two RF. The purpose of this study was to characterize newborns at increased risk for EOS before and after the implementation of a diagnostic/treatment protocol. Methods Retrospective analysis of asymptomatic newborns with RF to EOS who had laboratory testing performed at perinatology department in a central hospital in north of Portugal before and after the protocol was reviewed (2016), in the years 2015 and 2017, respectively. Patients were divided in two groups: preprotocol (2015) and postprotocol (2017), according to the date of admission. Results A total of 361 newborns were enrolled, 296 (82%) pre-protocol and 65 (18%) post-protocol. There was a significant raise in the number of preterm newborns (9.5 versus 30.8%, pre- and post-protocol, respectively; p < .001), with similar other sociodemographic characteristics. There were 36 positive laboratory screenings at 12 h of life and 8.6% were transferred to the neonatology department, without differences between the groups (p = .250 and p = .488). All presented a favorable outcome, without differences in the number of readmissions in the first month of life (p = .204). Discussion The modification of the approach protocol has led to a significant decline in the laboratory testing performed, minimizing newborn pain, unnecessary antibiotic exposure and costs, without increased risk of readmission for sepsis.

Diagnosing congenital Cytomegalovirus infection: don\u2019t get rid of dried blood spots

BackgroundCongenital Cytomegalovirus (cCMV) is a serious global public health issue that can cause irreversible fetal and neonatal congenital defects in symptomatic or asymptomatic newborns at birth. In absence of universal cCMV screening, the retrospective diagnosis of cCMV infection in children is only possible by examining Dried Blood Spot (DBS) samples routinely collected at birth and stored for different time spans depending on the newborn screening regulations in force in different countries. In this article, we summarize the arguments in favor of long-term DBS sample storage for detecting cCMV infection.Main textCMV infection is the most common cause of congenital infection resulting in severe defects and anomalies that can be apparent at birth or develop in early childhood. Sensorineural hearing loss is the most frequent consequence of cCMV infection and may have a late onset and progress in the first years of life. The virological diagnosis of cCMV is essential for clinical research and public health practices. In fact, in order to assess the natural history of CMV infection and distinguish between congenital or acquired infection, children should be diagnosed early by analyzing biological samples collected in the first weeks of life (3 weeks by using viral culture and 2 weeks by molecular assays), which, unfortunately, are not always available for asymptomatic or mildly symptomatic children. It now seems possible to overcome this problem since the CMV-DNA present in the blood of congenitally infected newborns can be easily retrieved from the DBS samples on the Guthrie cards routinely collected and stored within 3 days from birth in the neonatal screening program for genetic and congenital diseases. Early collection and long-term storage are inexpensive methods for long-term bio-banking and are the key points of DBS testing for the detection of cCMV.ConclusionDBS sampling is a reliable and inexpensive method for long-term bio-banking, which enables to diagnose known infectious diseases - including cCMV - as well as diseases not jet recognized, therefore their storage sites and long-term storage conditions and durations should be the subject of political decision-making.

Peripheral perfusion index percentiles for healthy newborns by gestational age and sex in China

Peripheral perfusion index (PPI) percentiles for newborns serve as an important observation tool in clinical practice, but research pertaining to reference ranges are lacking. The aim of this study was to establish PPI percentiles for healthy newborns by gestational age and sex at 24–48 hours of life. We conducted an observational study and examined PPI values at 24–48 hours of life in 3814 asymptomatic newborns born between 35 and 41 weeks gestation who did not need medical treatment from June 1, 2016 to May 31, 2017 at two maternity hospitals in Shanghai. Linear regression analysis was carried out on the associations between PPI values and variables such as gestational age, sex, and birthweight. Pre-ductal PPI values linearly increased with gestational age (β: 0.072; 95% CI: 0.037, 0.107; P = 0.000). Post-ductal PPI values were also mainly related to gestational age (β: 0.051; 95% CI: 0.018, 0.085; P = 0.003). Smoothed reference curves for pre- and post-ductal PPI values by gestational age and sex were derived from LMS Chart Maker. Our study is the first study to establish PPI percentiles curves for healthy newborns by gestational age and sex at 24–48 hours of life. Further research is required for the implementation of PPI curves into clinical practice.

Current Approaches in the Diagnosis and Management of Congenital Cytomegalovirus Infections and the Situation in Turkey

Human cytomegalovirus (CMV) infections are common in all populations and CMV seroprevalence in women of childbearing age is in the range of 45-100% worldwide. CMV is the most common cause of congenital infections and is associated with fetal development defects and hearing loss. The risk of congenital infection is directly related to maternal immunity and is between 30-40% and 1-2% range in primary and non-primary infections, respectively. Only 5-10% of newborns with congenital infection are symptomatic at birth. Nearly 4% of these babies can die early in life, while 40-60% have to live with permanent sequelae such as sensorineural hearing loss, cognitive deficit and visual impairment. Asymptomatic newborns including those born from mothers with non-primary infections are also at risk for long-term sequelae. These sequelae often develop in the first 1-2 years of life and may extend up to 5-7 years, but the severity of damage reduces in time. CMV seroprevalence in women of childbearing age and pregnant women in Turkey is between 96% and 99.8%. Until recently, our knowledge about the frequency of congenital CMV infections in Turkey was derived from the studies based on the maternal screening tests. These studies, which were far from reflecting the true prevalence of congenital CMV infections, have begun to be replaced by newborn-based systematic screening studies. CMV DNA positivity was found to be 1.6-1.9% in saliva samples, while both saliva and urine and/or blood samples positivity was found to be 0.2-1.4% in the newborn screening studies carried out in Turkey. Glycoprotein B-1 (gB1) was the most frequently detected genotype (38.4-83.3%) in newborns in Turkey. Standard measures and preventive public health practices such as education of the mother, reducing the contact of pregnant women with virus-spreading children and the hand hygiene come into prominence in the prevention of maternal and congenital infections as a result of the absence of an approved vaccine or low protection of existing vaccines. Advanced measures, such as screening blood products especially for the people with immunodeficiency and serological screening of the in-vitro fertilization applications are also being considered. Monitoring of infected newborns and their mothers during pregnancy, postnatal diagnosis and providing counseling for the parents are also critical. Hearing loss can be detected at an early stage using screening tests that become a routine practice for all newborns. Thus, cognitive and psychosocial development of children affected by infection is supported by speech therapy, the use of hearing aids and other practices. However, it should be noted that hearing functions in infected newborns may be normal at birth, but these newborns are at risk for progressive sensorineural hearing loss. For early diagnosis of asymptomatic newborns, it is important to adopt CMV tests as a part of newborn screening programs. Another preventive approach is to treat the mother and the baby with antiviral drugs and preparations that directly target the virus. Passive immunization of the pregnant and the treatment of the symptomatic newborns with valganciclovir have yielded positive results. In this review article, maternal, fetal and newborn based current approaches used in the diagnosis and follow-up of congenital CMV infections have been discussed.

Evaluation of Pulse Oximetry in the Early Diagnosis of Cardiac and NonCardiac Diseases in Healthy Newborns

Background: Critical congenital heart diseases (CCHDs) are among the most common birth malformations. This study aimed to determine the cardiac and noncardiac diseases in the Iranian healthy newborns using pulse oximetry (POX) as a suggested screening method.Methods: In this cross-sectional study, healthy term and near term neonates who were born from October 2017 to March 2018 were evaluated. Preductal and postductal POX was performed in all asymptomatic healthy newborns after 24 hours of life or at any time before discharge from the nursery. Oxygen saturation (SPO2) was considered normal if SPO2 was  95%, and the difference between preductal O2 saturation and postductal POX was obtained at ≤ 3%. The POX was repeated after 2 hours for abnormal patients. In the case of the same results in both repeated measures, echocardiography, chest X-ray, sepsis screening, and blood glucose were conducted.Results: A total of 413 asymptomatic healthy term and near term neonates underwent the pulse oximetry screening (POX). The mean birth weight and gestational age of the neonates were 3256.31±509.62 gr and 38.2 weeks, respectively. The POX was performed averagely 19.5 hours after birth. Finally, a total of 10 cases were detected with abnormal POX. Among these 10 patients, three cases had cardiac diseases (i.e., transposition of the great arteries, ventricular septal defect/pulmonary atresia, and ventricular septal defect/pulmonary hypertension), three cases had noncardiac diseases (i.e., esophageal stenosis, hypoglycemia, and persistent pulmonary hypertension/sepsis), and four subjects were healthy.Conclusion: The obtained findings showed that routine pox, along with clinical examinations could be applied, especially in developing countries for the early detection of cardiac and noncardiac diseases in asymptomatic newborns.

Neonatal surveillance for congenital Zika infection during the 2016 microcephaly outbreak in Salvador, Brazil: Zika virus detection in asymptomatic newborns.

ObjectiveTo identify newborns with congenital Zika infection (CZI) at a maternity hospital in Salvador, Brazil, during the 2016 microcephaly outbreak.MethodsA prospective study enrolled microcephalic and normocephalic newborns with suspected CZI between January and December 2016. Serology (immunoglobulins IgM and IgG) and quantitative reverse transcriptase polymerase chain reaction (RT‐qPCR) for the Zika virus were performed. Demographic and clinical characteristics of newborns with and without microcephaly were compared.ResultsOf the 151 newborns enrolled, 32 (21.2%) were classified as microcephalic. The majority of these cases were born between January and May 2016. IgM and IgG Zika virus antibodies were detected in 5 (23.8%) and 17 (80.9%) microcephalic newborn blood samples, respectively. Six (24%) microcephalic newborns tested positive for Zika virus by RT‐qPCR in urine or placenta samples. Thirteen (11.8%) normocephalic newborns also tested positive for Zika virus by PCR in urine, plasma, or placenta samples, while IgM antibodies against Zika were detected in 4 (4.2%) others.ConclusionsIdentification of 17 normocephalic CZI cases, confirmed by IgM serology or RT‐qPCR for Zika virus, provides evidence that CZI can present asymptomatically at birth. This finding highlights the need for prenatal and neonatal screening for Zika virus in endemic regions.

A COVID-19–Positive Neonate Born to a COVID-19–Negative Mother: Should Asymptomatic Newborns Be Tested?

We report the management conundrum involving the case of a newborn boy whose initial nasopharyngeal test results were positive for COVID-19, born to a mother suspected to have COVID-19 but whose test results were negative.

Ensuring the Life-Span Benefits of Newborn Screening.

Newborn screening is a highly successful public health program that has led to major improvements in outcomes for a variety of conditions otherwise associated with long-term disability and even death.1 In the United States, newborn screening is provided to every newborn, regardless of circumstance, leading to the identification of >13 000 newborns with a significant condition each year.1 Most of these individuals require specialized care over their life span. However, public health involvement in newborn screening typically ends once the condition has been diagnosed. This can lead to gaps in care and impede the ability to collect the data necessary for quality improvement and assess treatment effectiveness. The public health activities in newborn screening include choosing which conditions to screen for, implementing screening and monitoring quality, and ensuring follow-up testing and referrals after positive screen results. After referral for diagnosis, the public health mandate for most states ends, and the responsibility for care rests with pediatricians and other clinicians. Unfortunately, the lifelong management of the rare conditions identified through newborn screening can break down at multiple points, even for conditions that have been included in newborn screening for decades. For example, many children with sickle cell disease do not receive life-saving antibiotic prophylaxis2; the management of children with congenital hypothyroidism may be inconsistent with recommended care, undermining optimal cognitive development3; and adults with phenylketonuria often have limited access to the specialists and medical foods necessary to protect against neurocognitive impairment.4 The complexity of follow-up care has increased with the expansion … Address correspondence to Alex R. Kemper, MD, MPH, MS, Division of Ambulatory Pediatrics, Nationwide Children’s Hospital, 700 Children’s Dr, LAC5411, Columbus, OH 43205-2664. E-mail: alex.kemper{at}nationwidechildrens.org

Evaluation of saliva pools method for detection of congenital human cytomegalovirus infection

Human cytomegalovirus (HCMV) is the most frequent cause of congenital infection, leading to long-term sequelae especially sensorineural hearing loss (SNHL). Since 5–15 % of the asymptomatic newborns will develop late sequelae, the implementation of a universal screening would allow the identification of infected children and early intervention. The aim of this study was to validate the use of saliva pools of 10 and 20 samples for the detection of HCMV congenital infection. Four spiking samples (negative saliva matrix added with known concentration of AD169 strain culture supernatant) and a set of 12 saliva samples, collected from newborns with confirmed congenital infection in their first three weeks of life, were tested individually and after dilution in 10 and 20 pools by an “in-house” RT-PCR. Both pool methodologies, 10-pool and 20-pool samples, had 100 % sensitivity and specificity when compared with individual samples. This methodology could allow a cost reduction close to 85 % and 89 %, respectively for the 10-pool and 20-pool approach, when compared with testing each sample individually. This significant reduction may open the possibility to perform the newborn screening for HCMV in a large-scale.

Management of Late Preterm and Term Neonates exposed to maternal Chorioamnionitis

BackgroundChorioamnionitis is a significant risk factor for early-onset neonatal sepsis. However, empiric antibiotic treatment is unnecessary for most asymptomatic newborns exposed to maternal chorioamnionitis (MC). The purpose of this study is to report the outcomes of asymptomatic neonates ≥35 weeks gestational age (GA) exposed to MC, who were managed without routine antibiotic administration and were clinically monitored while following complete blood cell counts (CBCs).MethodsA retrospective chart review was performed on neonates with GA ≥ 35 weeks with MC during calendar year 2013. IT ratio (immature: total neutrophils) was considered suspicious if ≥0.3. The data were analyzed using independent sample T-tests.ResultsAmong the 275 neonates with MC, 36 received antibiotics for possible sepsis. Twenty-one were treated with antibiotics for > 48 h for clinical signs of infection; only one infant had a positive blood culture. All 21 became symptomatic prior to initiating antibiotics. Six showed worsening of IT ratio. Thus empiric antibiotic administration was safely avoided in 87% of neonates with MC. 81.5% of the neonates had follow-up appointments within a few days and at two weeks of age within the hospital system. There were no readmissions for suspected sepsis.ConclusionsIn our patient population, using CBC indices and clinical observation to predict sepsis in neonates with MC appears safe and avoids the unnecessary use of antibiotics.

Not all newborns born to mothers with clinical chorioamnionitis need to be treated

Purpose The 2010 recommendations of the Centers for Disease Control and Prevention (CDC) for prevention of perinatal group B Streptococcal Disease (GBS) is that symptomatic newborns suspect for early onset sepsis (EOS), or newborns born to mothers with clinical chorioamnionitis should receive antibiotic treatment. Our protocol was changed accordingly during 2015. We prospectively assessed the safety of the protocol and evaluated the need to treat all newborns born to mothers with clinical chorioamnionitis and retrospectively evaluated the performance of the EOS risk calculator. Methods The study period was from May 2015 to April 2016 at the Kaplan Medical Center (KMC). Inclusion criteria were: gestational age of 35 weeks and above, newborns that were treated with antibiotic, newborn born to mothers with risk factors for EOS or with maternal clinical chorioamnionitis, or to mothers that were given intra-partum antibiotic prophylaxis (IAP). Results In the study period, 7058 newborns were born, 1341 (19%) neonates were included according to the inclusion criteria. Six newborns had EOS (0.85 per 1000 live born). 123/1341 (9%) of the neonates were symptomatic of whom six (4.9%) had proven EOS with RR 10.9 (CI 3.5–33.39, p < .0001), NNT was 22.6. Of them, 89/1341 (6.6%) were treated for maternal clinical chorioamnionitis, two (2.25%) had proven EOS, but they were also symptomatic. The RR was 5.03 (CI 1.03–24.6 p = .045) and the NNT was 55.5. Symptomatic newborns were at an increased risk of 2.2 to have EOS compared with newborns with maternal clinical chorioamnionitis. During the study period, 201 (15%) newborns received antibiotic treatment, while if we had only used the calculator, 111 (8%) newborns would have been treated (p<.001). Only one (out of three with maternal risk factors) newborn was symptomatic during the first hour of life. Three of the mothers whose newborn developed EOS, had no risk factors so there was no need for the calculator. The calculated EOS risk at birth for the other three ranged from 0.37 to 0.67. Conclusions We suggest that asymptomatic newborns born to mothers with clinical chorioamnionitis should not receive antibiotic treatment automatically.

Clinical Approach to Hypocalcemia in Newborn Period and Infancy: Who Should Be Treated?

Introduction Hypocalcemia is a common metabolic problem in newborn period and infancy. There is consensus on the treatment of the symptomatic cases while the calcium level at which the treatment will be initiated and the treatment options are still controversial in asymptomatic hypocalcemia. Methods This review article will cover hypocalcemia with specific reference to calcium homeostasis and definition, etiology, diagnosis, and treatment of hypocalcemia in newborn and infancy period. Results Hypocalcemia is defined as total serum calcium <8 mg/dL (2 mmol/L) or ionized calcium <4.4 mg/dL (1.1 mmol/L) for term infants or preterm infants weighing >1500 g at birth and total serum calcium <7 mg/dL (1.75 mmol/L) or ionized calcium <4 mg/dL (1 mmol/L) for very low birth weight infants weighing <1500 g. Early-onset hypocalcemia is generally asymptomatic; therefore, screening for hypocalcemia at the 24th and 48th hour after birth is warranted for infants with high risk of developing hypocalcemia. Late-onset hypocalcemia, which is generally symptomatic, develops after the first 72 h and toward the end of the first week of life. Excessive phosphate intake, hypomagnesemia, hypoparathyroidism, and vitamin D deficiency are commonest causes of late-onset hypocalcemia. Hypocalcemia should be treated according to etiology. Calcium replacement is the cornerstone of the treatment. Elementary calcium replacement of 40 to 80 mg/kg/d is recommended for asymptomatic newborns. Elementary calcium of 10 to 20 mg/kg (1–2 mL/kg/dose 10% calcium gluconate) is given as a slow intravenous infusion in the acute treatment of hypocalcemia in patients with symptoms of tetany or hypocalcemic convulsion. Conclusion Since most infants with hypocalcemia are usually asymptomatic, serum total or ionized calcium levels must be monitored in preterm infants with a gestational age <32 weeks, small for gestational age infants, infants of diabetic mothers, and infants with severe prenatal asphyxia with a 1 min Apgar score of <4. The treatment of hypocalcemia should be initiated immediately in infants with reduced calcium levels while investigating the etiology.

P01-T EEG recordings usefulness on clinically asymptomatic newborns with tuberous

Background A 39-week (GA) female, with no relevant family history or parental consanguinity, with a fetal ultrasonographic image of an intracardiac tumor. Physical examination was unremarkable. Magnetic-resonance-imaging (MRI) showed subependymal nodules and cortical tubers. Methods and results Eight channel video-EEG was performed four times. 1. EEG recorded within nine days following birth was asymmetric with excessive slow activity over the left hemisphere and isolated sharp waves over the left-central region. Seven rhythmic trains of theta activity evolving to a higher voltage delta and intermixed sharp waves showed left-sided preponderance. Duration ranged from 5–60 s with no obvious clinical correlation. Amplitude-integrated EEG showed persistent electrical seizures over the left hemisphere. Thus antiepileptic drug treatment was indicated. 2. EEG recorded age-30-days showed asymmetry persistence and decrease in subclinical seizure burden (2). 3. EEG recorded age-58-days was again asymmetric, some isolated and pseudoperiodic (1–1.5 Hz) sharp waves over the left- central region, and three subclinical seizures (1–1.5-min duration). 4. EEG recorded at four months of age (wake and sleep stages) showed 4 Hz posterior rhythm in both hemispheres, bilateral sleep spindles. There was slight anterior asymmetry but no seizures. Conclusion Neonatal-onset seizures in TSC patients are infrequent, usually starting at the age of 3rd-5th months. Although EEG recording is not often used as a diagnosis tool, as there may be patients presenting with clinically silent seizures, we encourage the use of video- EEG monitoring. To find seizures in the second week of life was a surprise, but allowed early control of seizures.

Congenital Syphilis Rates Correlate With Increased Maternal Syphilis Rates in a New Orleans Tertiary Care Center [30I

INTRODUCTION: In recent years, the number of congenital syphilis (CS) cases in the United States increased from 8.4 to 11.6 cases per 100,000 live births. In 2017, Louisiana reported the highest rates of CS in the country. This study aims to determine provider management patterns for newborns at risk for CS. METHODS: All cases of maternal syphilis from 2013-2017 at Touro Infirmary in New Orleans, LA were identified using ICD-9 and ICD-10 codes. Women who were serofast were excluded. Seventy-three mother child pairs were identified with available records. Charts were reviewed for stage of syphilis, treatment regimen during pregnancy, interval from treatment to delivery and other variables. Newborn information including neonatal intensive care unit (NICU) admission, physical and radiologic exam findings, nontreponemal titers, treatment regimen and other outcomes were recorded. Variables were summarized using means with standard deviations and frequencies expressed as percentages. RESULTS: Of the 73 newborn charts reviewed, 8.96% (n=6) were found to be symptomatic, however only 83.3% of them were admitted to the NICU. Only 29.6% of infants were adequately treated with an extended penicillin regimen if the mother did not receive appropriate treatment. Furthermore, only 63.0% of newborns had a nontreponemal titer performed. Only twenty six percent (n=16) of asymptomatic newborns (n=61) considered low risk for CS received single dose penicillin. CONCLUSION: With the rising rates of both maternal and CS, strict adherence to the CDC guidelines for treatment of CS must be maintained. Attention to maternal treatment guidelines and vigilant follow up are necessary to ensure treatment success.

Accuracy of cardiac auscultation in detection of neonatal congenital heart disease by general paediatricians.

Challenges remain in the judgement of pathological murmurs in newborns at maternity hospitals, and there are still many simple major CHD patients in developing countries who are not diagnosed in a timely fashion. This study aimed to evaluate the accuracy of cardiac auscultation on neonatal CHD by general paediatricians. We conducted a prospective study at three hospitals. All asymptomatic newborns underwent auscultation, pulse oximetry monitoring, and echocardiography. Major CHD was classified and confirmed through follow-up. We evaluated the accuracy of various degrees of murmurs for detecting major CHD to determine the most appropriate standards and time of auscultation. A total of 6750 newborns were included. The median age of auscultation was 43 hours. Cardiac murmurs were identified in 6.6% of newborns. For all CHD, 44.4% had varying degrees of murmurs. A murmur of grade ≥2 used as a reference standard for major CHD had a sensitivity of 89.58%. The false positive rate of murmurs of grade ≥2 for detecting major CHD was significantly negatively related to auscultation time, with 84.4% of false positives requiring follow-up for non-major CHD cardiac issues. Auscultation after 27 hours of life could reduce the false positive rate of major CHD from 2.7 to 0.9%. With appropriate training, maternity hospital's paediatricians can detect major CHD with high detection rates with an acceptable false positive rate.

PRACTICAL STEPS TO IMPROVE THE DIAGNOSTICS OF INHERITED METABOLIC DISEASES IN NEWBORNS AND OLDER CHILDREN IN UKRAINE

PRACTICAL STEPS TO IMPROVE THE DIAGNOSTICS OF INHERITED METABOLIC DISEASES IN NEWBORNS AND OLDER CHILDREN IN UKRAINE

Assessing the use of pulse oximetry screening for critical congenital heart disease in asymptomatic term newborns

Background: Even though pulse oximetry screening (POS) is widely used for the early detection of critical congenital heart disease (CCHD) in unrecognized newborns, the missing cases of CCHD are still found in our practice. Aims: To evaluate the accuracy of POS for CCHD in asymptomatic term newborns and to identify the missing cases. Subjects and Methods: This retrospective cohort study was performed in asymptomatic term newborns born from June 2016 to September 2017 at Hatyai Hospital. Central electronic medical records (including POS and echocardiograms) during birth hospitalization and subsequent medical records at 6 months after discharge were reviewed. Statistical Analysis Used: The diagnostic accuracy of POS for CCHD was assessed by using sensitivity and specificity (with 95% confidence interval [CI]). Results: A total of 7137 asymptomatic term newborns were enrolled. POS had a sensitivity of 42.86% (95% CI 9.90–81.59) and a specificity of 99.96% (95% CI 99.88–99.99). Nearly 57.14% (4 out of 7 cases of CCHD) constituted secondary target group. All the late diagnoses (3 cases) were of coarctation of the aorta (COA). The mortality rate of late detected CCHD was 33.3%. Conclusions: POS displayed low detection rate in secondary target group, particularly those with COA. POS decreased late detection of CCHD by 57.1%. The mortality rate of COA was high in late detection. It was found that the appropriate time span for POS follow-up should be up to 4 months.

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.

Patients with very long chain acyl-CoA dehydrogenase deficiency (VLCADD), a long chain fatty acid oxidation disorder, are traditionally treated with a long chain triglyceride (LCT) restricted and medium chain triglyceride (MCT) supplemented diet. Introduction of VLCADD in newborn screening (NBS) programs has led to the identification of asymptomatic newborns with VLCADD, who may have a more attenuated phenotype and may not need dietary adjustments. To define dietary strategies for individuals with VLCADD based on the predicted phenotype. We evaluated long-term dietary histories of a cohort of individuals diagnosed with VLCADD identified before the introduction of VLCADD in NBS and their beta-oxidation (LC-FAO) flux score (rate of oleate oxidation) in cultured skin fibroblasts in relation to the clinical outcome. Based on these results a dietary strategy is proposed. Sixteen individuals with VLCADD were included. One had an LC-FAO flux score >90%, was not on a restricted diet and is asymptomatic to date. Four patients had an LC-FAO flux score <10%, and significant VLCADD related symptoms despite the use of strict diets including LCT restriction, MCT supplementation and nocturnal gastric drip feeding. Patients with an LC-FAO flux score between 10 and 90% (n = 11) showed a more heterogeneous phenotype. This study shows that a strict diet cannot prevent poor clinical outcome in severely affected patients and that the LC-FAO flux is a good predictor of clinical outcome in individuals with VLCADD identified before its introduction in NBS. Hereby, we propose an individualized dietary strategy based on the LC-FAO flux score.

2078. Adherence to Laboratory Screening Recommendations for Neonatal Herpes Simplex Virus Infection at a Tertiary Children’s Hospital

BackgroundThough American Academy of Pediatrics (AAP) publications detail the precise laboratory evaluation to perform for suspected neonatal herpes simplex virus (HSV) infection, significant practice variability persists. The primary aim of this study was to assess adherence to AAP laboratory testing guidance for neonatal HSV at our hospital. Other aims included: (1) comparing adherence rates for infants tested due to concern for symptomatic infection with those screened due to maternal genital lesion presence at birth and (2) determining the rate of infected infants among those tested.MethodsChart review was performed for infants ≤42 days old hospitalized from February 1, 2013–June 30, 2016 and tested for HSV. Subjects were categorized as asymptomatic neonates born to mothers with active genital HSV lesions at delivery or as symptomatic with concern for neonatal HSV disease. Those tested as outpatients and asymptomatic newborns of mothers with a history of genital HSV but no active lesions at delivery were excluded. Demographics and maternal HSV status were collected. Evaluations were classified as complete or incomplete based on AAP recommendations.ResultsOf 245 subjects, 24 (10%) were asymptomatic newborns of mothers with lesions at delivery, while 221 (90%) were tested due to possible symptomatic disease. Only 4/245 (1.6%) had HSV infection. Complete evaluations were more likely for asymptomatic infants (P < 0.01), but only 27 total subjects (11%) had a complete evaluation. Blood PCR and surface cultures were omitted most frequently—missing from 196 (80%) and 150 (61%) evaluations, respectively. Of those lacking surface cultures, 58 (39%) had surface PCRs. CSF PCRs were not obtained for 118/221 (53%) symptomatic evaluations. No association was found between known maternal history of genital HSV prior to delivery and evaluation completeness (P = 0.19).ConclusionAdherence to AAP testing recommendations for neonatal HSV was poor, though evaluation completeness was more likely for asymptomatic infants of mothers with lesions at delivery than for symptomatic infants. Despite a low incidence of neonatal HSV, education regarding appropriate laboratory testing is needed. Bundling computerized electronic orders for testing may improve adherence.Disclosures All authors: No reported disclosures.

Neonatal HCMV-related polymicrogyria in seroimmune women: What is the optimal pregnancy management?

BackgroundHuman cytomegalovirus (HCMV) infection is the most common congenital infection in developed countries. Recent studies highlighted similar percentages of symptoms in HCMV congenitally-infected infants following either primary or non-primary maternal infections. ObjectivesTo highlight correlation between neonatal brain abnormalities, detected by ultrasounds and magnetic resonance image in HCMV congenitally-infected infants, and maternal virological parameters during pregnancy, especially in seroimmune mothers. Study designWe considered the 36 HCMV congenitally-infected infants (26 asymptomatic and 10 symptomatic) referred to our center over 4 consecutive years. Maternal serologic data during pregnancy were available for all cases. Neonatal cranial ultrasound and magnetic resonance images were related to maternal virological findings during pregnancy. ResultsPolymicrogyria was observed in 6/10 (60.0%) symptomatic and 0/26 (0%) asymptomatic newborns (p < 0.001). The 6 infants with polymicrogyria were all born to mothers who were HCMV IgG reactive with negative specific IgM, in the first trimester of pregnancy (range: 8–14 weeks). For these six women, pre-conceptional HCMV serologic information were absent and they all were considered immune for HCMV during pregnancy, therefore no further serologic investigation or specific educational and hygienic information were recommended during gestation. ConclusionThese data highlight the elevated frequency of polymicrogyria in HCMV congenitally-infected infants born to mothers defined as seroimmune in the early stage of pregnancy and having no pre-existing serologic information. The paper stresses the potential utility of pre-conceptional screening to define maternal infection reliably (primary vs non-primary), and allow evidence-based counseling in women with positive serology, suggesting also preventive hygienic measures during pregnancy.