Association of BNT162b2 SARS-CoV-2 vaccination during pregnancy with postnatal outcomes in premature infants.

AIM: The effect of COVID-19 vaccine given during pregnancy on premature infants is unknown. This study aims to determine the association between maternal COVID-19 vaccine with postnatal outcome in premature infants. METHODS: This is a single-centre retrospective case-control study of infants born before 35 weeks gestation to mothers who received SARS-CoV-2 vaccine during pregnancy compared with infant born to non-vaccinated mothers. RESULTS: A total of 78 infants in each group were included. Infants in the vaccinated group had less respiratory distress syndrome (RDS) (p = 0.02) and less need for respiratory support (p = 0.002), and maternal vaccine had a protective effect on RDS [adjustable OR 0.38 (0.17-0.85)]. Vaccination during the first compared to the second trimester was associated with earlier gestational age (32.3 ± 2.1 vs. 33.3 ± 1.1 weeks, p = 0.03). CONCLUSION: We demonstrated that maternal SARS-CoV-2 vaccine is not associated with postnatal adverse effect in premature infants and potentially has a protective effect on RDS. Earlier gestational age among the infants born to mothers who received COVID-19 vaccine during the first trimester did not translate to higher rate of postnatal complications. These findings might suggest that COVID-19 vaccine is safe in high-risk pregnancies, but timing of administration should be considered. Further studies are needed to confirm our findings and the biological mechanism.

The prenatal detection of distal tracheoesophageal fistulas in fetuses diagnosed with esophageal atresia.

BACKGROUND: Esophageal atresia is a major anomaly of varying severity. The complexity of surgical correction depends on the presence of a distal fistula. OBJECTIVE: This study aimed to determine the feasibility and accuracy of prenatal ultrasound detection of the distal fistula in fetuses diagnosed with esophageal atresia. STUDY DESIGN: This was an observational study conducted at a single tertiary care center between 2019 and 2021. Included were pregnant patients carrying a fetus prenatally diagnosed with esophageal atresia that was confirmed postnatally during corrective surgery or at postmortem autopsy. During the scan, the performing investigator determined the presence or absence of a distal fistula by scanning the location of the lower esophagus during fetal breathing. Cases in which the lower esophagus was observed distending with amniotic fluid during breathing were deemed "fistula present," and the remaining cases "fistula absent." Test feasibility and performance indices, including sensitivity, specificity, and positive and negative predictive value were calculated. The offline clips and images were reviewed by 2 investigators for the assessment of interoperator agreement using Cohen's Kappa formula. RESULTS: Included were 16 fetuses with esophageal atresia scanned between 2019 and 2021. All fetuses were successfully scanned with sufficient resolution of the area of interest during at least 3 cycles of breathing. It took a median of 8.5 minutes to determine the presence or absence of a distal fistula. The feasibility of the test was 100% (16/16). The test's sensitivity, specificity, and positive and negative predictive values were 80% (95% confidence interval, 55-100), 100% (95% confidence interval, 60-100), 100% (95% confidence interval, 65-100), and 75% (95% confidence interval, 45-100), respectively. The Cohen's Kappa for interoperator agreement was calculated to be 1, P<.001, corresponding to a "perfect" level of agreement. CONCLUSION: Distal fistulas in esophageal atresia can be demonstrated prenatally by targeted scanning using appropriate technique. The method provided is feasible, reproducible, and has excellent performance indices. This novel technique and observations may improve the prenatal diagnosis and counseling of esophageal atresia.

Preterm Singleton Birth Rate during the COVID-19 Lockdown: A Population-Based Study.

OBJECTIVE: The aim of the study is to evaluate the effect of the coronavirus disease 2019 (COVID-19) pandemic national lockdown period on the rate of singleton preterm births in Israel. STUDY DESIGN: This is a population-based cohort study of 3,41,291 singleton infants born in the months of January to July 2017 to 2020. Multivariable logistic regression analyses were used to estimate the influence of period and year on the rates of preterm births during the lockdown period (11th March - 5th May 2020) compared with rates before (January 1st 2020 - March 10th 2020), and after the lockdown (May 6th 2020-June 30th 2020) and to the corresponding periods in 2017to 2019. RESULTS: During the lockdown period the preterm birth rate (primary outcome) decreased by 9.7% from 5.05 to 4.56% in the pre-lockdown period (p = 0.006), an adjusted decrease of -0.52% (95% confidence interval -0.89%; -0.15%), odds ratio 0.898 (95% confidence interval 0.832; 0.970). CONCLUSION: The rate of singleton preterm births declined by 9.7% during the COVID-19 pandemic national lockdown period in Israel. KEY POINTS: · A 10% decline in all preterm deliveries was observed during the COVID-19 pandemic national lock-down period.. · The lock-down might influence environmental changes which contribute to the decrease in preterm deliveries.. · Changes in lifestyle, and societal behavior might contribute to the decrease in preterm deliveries..

Increased risk for early hypertriglyceridemia in small for gestational age preterm infants.

Small for gestational age preterm are at increased risk for future metabolic syndrome. Early indication for the disrupted metabolism may be found in the perinatal period. We aimed to evaluate whether small for gestational age preterm infants are at increased risk for hypertriglyceridemia when treated with lipid emulsions, and to investigate the association between triglyceride levels and morbidity. Small for gestational age infants ≤ 34 weeks' gestation age born during 2013-2016 were matched and compared with appropriate for gestational age counterparts. Triglyceride concentration > 250 mg/dL during treatment with parenteral nutrition was considered high. The study included 71 pairs of preterm infants. Hypertriglyceridemia was documented among 22.5% of the small for gestational age infants vs. 5.6% of the appropriate for gestational age infants (p = 0.007). Mean triglyceride levels were 194.4 ± 192.3 mg/dL and 99.9 ± 82.8 mg/dL, respectively (p < 0.001). Small for gestational age was predictive of hypertriglyceridemia (OR = 6.41; 95% CI 1.8-22.9). No significant association was found between triglyceride levels and morbidities in multivariate analysis.Conclusion: Small for gestational age preterm infants receiving lipid emulsions might be at a higher risk for hypertriglyceridemia. Routine monitoring of triglyceride levels will enable identification of the necessity for a slower increase in lipid emulsion therapy. What is Known: • Moderate and very preterm infants are routinely treated with lipid emulsions. • Small for gestational age (SGA) infants may have different metabolism, as they demonstrate higher risk for metabolic syndrome. What is New: • • SGA infants had a higher mean triglyceride level and more commonly had early hypertriglyceridemia (triglycerides > 250 mg/dL) compared with appropriate for gestational age infants treated with the same intravenous lipid dose. Small for gestational age was predictive of hypertriglyceridemia. • No significant association was found between triglyceride levels and morbidities in multivariate analysis.

Esophageal atresia in twins compared to singletons: In utero manifestation and characteristics.

OBJECTIVE: Esophageal atresia with/without tracheo-esophageal fistula (EA/TEF) is more common among twins. The detection of polyhydramnios might be altered in twins, leading to EA/TEF underdiagnosis, prenatally. The aim of the study was to compare the prenatal manifestation of EA/TEF between twins and singletons. METHODS: A 12-year study of EA/TEF cases was performed at a tertiary center. Cases exhibiting (a) small/absent stomach or (b) polyhydramnios were considered "suspected"; cases with (c) esophageal pouch were considered "detected." We compared the rate and timing of appearance of these signs between the groups. RESULTS: There were 76 cases of EA/TEF, of which 17 were a co-twin. All twin pairs were EA/TEF discordant. The prevalence of EA/TEF at our center was 1:750 for twins (1:319 monochorionic and 1:1133 dichorionic) and 1:2399 for singletons. The rate of small/absent stomach, polyhydramnios and pouch in twins vs singletons was 23.5%, 47.1%, 29.4% and 39.7%, 72.4%,34.5%, respectively (P = .2, P = .09 and P = .7). Esophageal pouch was detected earlier in twins (P = .03). Twins were scanned more frequently (×1.8 times, P = .01). CONCLUSION: EA/TEF is more prevalent in twins. Despite lower rate of polyhydramnios, twins were similarly detected prenatally as singletons, and this was accomplished earlier in pregnancy; perhaps reflecting more frequent scans.

[THE CHALLENGE OF DIAGNOSING RARE LIFE THREATENING SKIN LESIONS].

INTRODUCTION: Skin lesions seen after delivery are frequent and mostly shallow, without the need for special care or diagnosis challenge. In the following case, an infant was born at 35 weeks gestation, presented after the delivery with a well-demarcated, necrotic plaque over the right forearm with neurologic deficit. The differential diagnosis includes life-threatening reasons, therefore, emergent laboratory and imaging tests were held. Treatment was given after consulting a multidisciplinary team of experts, including antibiotic treatment, blood products and anticoagulation and physiotherapy treatment was started. Under this treatment, improvement was noticed but there was still a motor restriction. He was discharged home on his 24th day of life, with the working diagnosis of Congenital Volkmann Ischemic Contracture (CVIC). On his seventh week of life, he arrived to the emergency room with focal seizure resulting from an infarct seen on an MRI. He was diagnosed with cerebral palsy at the age of five months. In conclusion, Congenital Volkmann Ischemic Contracture is a rare diagnosis, however, awareness is of importance since fast treatment is crucial for future prognosis.

[NECROTIZING ENTEROCOLITIS - AN ONGOING CHALLENGE].

INTRODUCTION: Necrotizing enterocolitis (NEC) is a major cause for morbidity and mortality among neonates, especially among low birth weight premature infants. Even though NEC has been highly investigated during the last few decades, understanding of the pathogenesis is still relatively poor. Throughout the years protective measures, as well as risk factors, were identified, but there is still no clear prevention strategy, and the percentage of neonates suffering of NEC was not changed. Moreover, the treatment approach is controversial in many circumstances other than a few clear surgical indications. The decision between conservative and surgical treatment in many situations is in the hands of the medical staff. Herein we present the story of a premature infant who suffered from feeding intolerance since birth, with major clinical deterioration after receiving packed red blood cells (PRBCs) transfusion. She was diagnosed with NEC and was treated conservatively, with clinical improvement and worsening alternately, until a colonic stricture was identified and treated surgically. We will provide a short review on risk factors, preventive measures, as well as the research regarding PRBCS transfusion and NEC development.

Short-Term Neonatal Outcome among Term Infants after In-Utero Exposure to Beta Blockers.

BACKGROUND: The need for postnatal monitoring of infants exposed to intrauterine beta blockers (BBs) has not been clearly defined. OBJECTIVES: To evaluate infants exposed to intrauterine BBs in order to estimate the need for postnatal monitoring. METHODS: This retrospective case-control study comprised 153 term infants born to mothers who had been treated with BBs during pregnancy. Treatment indications included hypertension 76 mothers (49.7%), cardiac arrhythmias 48 (31.4%), rheumatic heart disease 14 (9.1%), cardiomyopathy 11 (7.2%) and migraine 4 (2.6%). The controls were infants of mothers with hypertension not exposed to BBs who were born at the same gestational age and born closest (before or after) to the matched infant in the study group. RESULTS: Compared to the control group, the infants in the study group had a higher prevalence of early asymptomatic hypoglycemia (study 30.7% vs. control 18.3%, P = 0.016), short symptomatic bradycardia events, other cardiac manifestations (P = 0.016), and longer hospitalization (P < 0.001). No life-threatening medical conditions were documented. The birth weight was significantly lower for the high-dose subgroup compared to the low-dose subgroup (P = 0.03), and the high-dose subgroup had a higher incidence of small-for-gestational-age (P = 0.02). CONCLUSIONS: No alarming or life-threatening medical conditions were observed among term infants born to BB treated mothers. These infants can be safely observed for 48 hours after birth close to their mothers in the maternity ward. Glucose follow-up is needed, especially in the first hours of life.

Internal and External Resources and the Adjustment of Parents of Premature Infants.

Studies have shown premature birth and infant hospitalization to be associated with increased levels of parental distress. Internal and external psychological resources have been found to mitigate distress among persons coping with stressful medical events. The current study evaluated psychological resources and distress in 87 parents (57 mothers and 30 fathers) to whom an infant was born prematurely and hospitalized in the NICU of a large tertiary medical center. Parents were administered standardized measures of internal (problem-solving skills) and external (total spousal support, adequacy of spousal support) psychological resources and of psychological distress (depression, posttraumatic symptoms, and mood). Findings indicated that higher levels of problem-solving skills and more adequate spousal support, but not total spousal support, were related to lower levels of parental distress. Adequacy of spousal support and parents' problem-solving skills accounted for 18% of the variance in overall mood and 13.8% of the variance in posttraumatic stress symptoms. A significant two-way interaction was found between adequacy of spousal support and problem-solving skills such that individuals with better problem-solving skills reported better overall mood independent of the adequacy of spousal support they receive. However, for individuals with poor problem-solving skills, the adequacy of the spousal support they receive was a significant factor in determining their overall mood. The theoretical and clinical implications of these findings are discussed in terms of the accessibility of these resources to assessment and their potential for change via existing intervention approaches.

Infants Born with Esophageal Atresia with or without Tracheo-Esophageal Fistula: Short- and Long-Term Outcomes.

BACKGROUND: The estimated incidence of esophageal atresia (EA) with or without tracheo-esophageal fistula (TEF) is 1:3500 live births. During childhood these patients have various co-morbidities, but the overall quality of life among adults is similar to that of the general population. OBJECTIVES: To evaluate short- and long-term co-morbidities and quality of life among infants born with EA ± TEF at a large single medical center. METHODS: Medical records of 65 children born over a 21 year period were reviewed for short- and long-term medical data. Telephone interviews were conducted with 46 of their parents regarding medical problems and quality of life after home discharge. RESULTS: The main long-term co-morbidities during the first 2 years of life, 4-6 years of age, and during adolescence (12-16 years) included gastro-esophageal reflux disease (GERD) in 56.5%, 35.8%, and 18.7%, respectively; stridor in 84.8%, 45.2%, and 12.5%, respectively; hyper-reactive airway disease (HRAD) in 43.5%, 35.5%, and 36.5%, respectively; recurrent pneumonia in 43.5%, 32.3%, and 18.8%, respectively; and overall recurrent hospitalizations in 87%, 41.9%, and 25%, respectively. The quality of life was reportedly affected among 100%, 75%, and 33.3% respectively. CONCLUSIONS: Long-term follow-up of patients with EA ± TEF indicates a high burden of co-morbidities during the first 6 years of life, with a gradual decrease in symptoms thereafter. Nevertheless, HRAD continued to impact the daily life of about one-third of the older adolescents, and GERD one-fifth. A long-term multidisciplinary follow-up should be conducted to prevent late onset complications that may affect the quality of life.

Short-Term Perinatal Outcome among Term Infants with Prenatal Diagnosis of Large Abdominal Circumference.

Background Measuring fetal abdominal circumference (AC) prenatally is an effective tool for predicting neonatal weight and macrosomia. Data are lacking regarding the outcome of newborn infants with prenatal diagnosis of large AC. Aim The aim of this study was to evaluate early short-term neonatal outcome among term singleton newborn infants with prenatal diagnosis of large AC. Methods Retrospective data were collected on 501 term infants with prenatal diagnosis of large AC (≥ 360 mm) and on matched controls, including information on maternal condition and on infant perinatal complications. Results In compare with controls, the study group had higher incidence of macrosomia (188 [37.5%] vs. 18 [3.6%], p < 0.001), hypoglycemia (48 (9.6%) vs. 25 [5%], p = 0.007), and significant morbidity (49 [9.8%] vs. 28 [5.6%], p = 0.017) but without increased incidence of congenital malformations or other perinatal complications. Only among the macrosomic, study subgroup and their controls differences were recorded including hypoglycemia (17.6 vs. 4.8%, p < 0.001), need for oral glucose (11.2 vs. 2.7%, p = 0.002), significant morbidity (10.1 vs. 3.7%, p = 0.024), and hospitalization in special care unit (11.7 vs. 4.3%, p = 0.012). Conclusion Prelabor diagnosis of large AC mostly reflects the infant's high birth weight and macrosomia with the associated perinatal complications. Large AC by itself was not predictive of any congenital malformations or perinatal and postnatal complications.

Indication of Mild Hemolytic Reaction Among Preterm Infants With ABO Incompatibility.

BACKGROUND: Among term infants, ABO incompatibility is a leading cause of hemolytic disease and neonatal jaundice. With respect to preterm infants, data are lacking. OBJECTIVE: To evaluate the incidence and severity of ABO incompatibility hemolytic disease among preterm infants with respect to hemolytic and jaundice parameters. DESIGN: Clinical and laboratory data were collected retrospectively from the medical records of 118 ABO-incompatible preterms born at gestational age (GA) 29-34 weeks, as well as 118 controls matched for GA, birth weight, and multiplicity. All infants were born at the Sheba Medical Center Tel-Hashomer between 2009 and 2012. RESULTS: The study and control groups were similar on all maternal and neonatal outcome parameters. No differences between the groups were recorded throughout hospitalization regarding hematocrit levels or the need for blood transfusion. Bilirubin levels were higher among the study (ABO-incompatible) group during the first 10 days of life; however, no significant differences were found regarding the need for phototherapy. Upon evaluating subgroups divided by GA, we found no differences on any hematological and jaundice factors among preterms of 29-31 weeks, whereas among preterms of 32-34 weeks higher positive direct antiglobulin test (DAT) results (7% vs. 0% in the control, P = 0.014) as well as higher bilirubin levels were documented. CONCLUSIONS: Among ABO-incompatible preterm infants with GA 29-34 weeks, there is no evidence of significant hemolytic reaction derived from placental transfer of antibodies. With increasing GA, antibody transfer becomes more significant, resulting in more positive DAT results and greater incidence of neonatal jaundice.

Gestational weight gain and body mass indexes have an impact on the outcomes of diabetic mothers and infants.

AIM: This study evaluated mothers with diabetes to determine whether prepregnancy body mass index (BMI), BMI on delivery or gestational weight gain (GWG) had the greatest impact on maternal and neonatal outcomes. METHODS: We retrospectively examined the medical charts of 634 full-term infants born to mothers with gestational diabetes mellitus not requiring insulin (n = 476), gestational diabetes mellitus requiring insulin (n = 140) and insulin-dependent diabetes mellitus (n = 18). Data regarding maternal BMI before pregnancy and on delivery were recorded, as well as maternal and neonatal complications. RESULTS: Infants born to women who gained more than the recommended weight during pregnancy had higher birthweights, higher rates of meconium-stained amniotic fluid and neonatal hypoglycaemia. Using logistic regression, Caesarean section delivery was predicted by gestational diabetes requiring insulin, with an odds ratio (OR) of 1.76, maternal hypertension (OR 2.4), infants born large for gestational age (OR 2.78) and maternal BMI ≥ 30 on delivery (OR 1.06). Neonatal complications were predicted by maternal insulin-dependent diabetes (OR 5.21), lower gestational age (OR 0.8) and GWG above the recommended amount (OR 1.56). CONCLUSION: Women with diabetes should be made aware that higher GWG can lead to Caesarean section delivery, infant macrosomia and other neonatal complications.

Bone density among infants of gestational diabetic mothers and macrosomic neonates.

Decreased bone density has been found among infants of diabetic mothers and among large-for-gestational-age newborns. To evaluate which etiologies (physical or metabolic effect) have the greatest impact on neonatal bone density. A case-control study was conducted that included two study groups: one comprising 20 appropriate-for-gestational-age (AGA) infants of gestational diabetic mothers (IGDM) and matched controls, and the other comprising 20 macrosomic infants (birth weight > 4 kg) and matched controls. Bone density was examined along the tibia bone using quantitative ultrasound that measured speed of sound. Bone density among the group of macrosomic infants was significantly lower than among the control group (2,976 vs. 3,120 m/s respectively, p < 0.005). No differences in bone density were found between infants of diabetic mothers and their controls (3,005 vs. 3,043 m/s respectively, p = 0.286). Low bone density was predicted only by birth weight (for every increase of 100 g) (OR 1.148 [CI 1.014-1.299], p = 0.003). Bone density was found to be low among macrosomic newborn infants, whereas among AGA-IGDM infants bone density was similar to that of the control group. These findings strengthen the hypothesis that reduced fetal movements secondary to fetal macrosomia constitute the mechanism for reduced bone density.

More than a gut feeling - sonographic prenatal diagnosis of imperforate anus in a high-risk population.

OBJECTIVES: The objective of this article is to investigate whether sonographic identification of the fetal anal mucosa (AM) can assist in the diagnosis of anal atresia (AA) in fetuses referred for congenital anomalies of kidney and urinary tract (CAKUT) malformation. METHODS: During a 3-year study period, 245 fetuses referred for CAKUT were prospectively examined for the presence of the AM on an axial trans-perineal view. The prenatal findings were confirmed clinically. RESULTS: The AM was identified in all but two fetuses. The diagnosis of AA was confirmed clinically. In two additional cases, the babies were born with imperforated anus. In the first case, the AM was identified prenatally. The baby was born with a thin membrane covering the anal pit, which was easily penetrated revealing a patent anal canal. The second case was a false-negative, in which the echogenic ischial tuberosity was falsely mistaken for the AM. None of the cases earlier had bowel dilatation or enterolithiasis. Overall, the incidence of AA in our group was 30-fold relative to the general population (1.2% vs 0.04%). CONCLUSIONS: In a CAKUT population, absence of the AM in the posterior perineal triangle in the axial trans-perineal view emerges as an important sonographic marker for prenatal diagnosis of AA.

Waterhouse Friderichsen syndrome complicating fulminant Enterobacter cloacae sepsis in a preterm infant: the unresolved issue of corticosteroids.

Bilateral adrenal hemorrhage can complicate severe sepsis in the neonate and is most commonly attributed to meningococcal disease; however, it can be caused by other etiologic agents as well. We report herein a fatal case of Enterobacter cloacae sepsis in a preterm infant, resulting in massive adrenal hemorrhages. This is the first documented case of adrenal hemorrhage following infection with this pathogen.

Mean platelet volume in preterm infants as a predictor of late-onset neonatal sepsis: a retrospective comparative study.

BACKGROUND: Neonatal sepsis remains a primary cause of morbidity and mortality among newborns. Rapid and accurate diagnosis poses a significant challenge-the non-specific clinical presentation of neonatal sepsis relies heavily on various laboratory indices for early detection and subsequent management. One such indicator under investigation is the mean platelet volume (MPV), which may serve as a predictive marker. This study aims to evaluate the association between the MPV and late-onset sepsis in preterm infants. METHODS: This retrospective study included 63 newborns born at Sheba Medical Center from 2016 to 2020 with late-onset sepsis as evidenced by positive blood cultures, and 63 newborns in the control group. We analysed blood count data at three intervals: preinfection, intrainfection and postinfection. Electronic medical records provided supplemental data. Each septic neonate was paired with a non-septic control. RESULTS: Our results revealed a significant elevation of MPV in septic newborns compared with non-septic controls during the days prior to the infection (9.323 and 8.876, respectively, p=0.043) and persisted up to 2 weeks postinfection (9.39 vs 8.714, p=0.025).The MPV and the MPV-to-total platelet (PLT) count ratio exhibited significant predictive capabilities in receiver operating characteristics analysis (-0.60 and -0.57, respectively). CONCLUSIONS: High MPV in combination with PLT decrement might be predictive for the diagnosis of late-onset sepsis. Future studies should be conducted in order to better understand the underlying pathophysiology and the potential clinical applications of these findings.

National Rapid Genome Sequencing in Neonatal Intensive Care.

Importance: National implementation of rapid trio genome sequencing (rtGS) in a clinical acute setting is essential to ensure advanced and equitable care for ill neonates. Objective: To evaluate the feasibility, diagnostic efficacy, and clinical utility of rtGS in neonatal intensive care units (NICUs) throughout Israel. Design, Setting, and Participants: This prospective, public health care-based, multicenter cohort study was conducted from October 2021 to December 2022 with the Community Genetics Department of the Israeli Ministry of Health and all Israeli medical genetics institutes (n = 18) and NICUs (n = 25). Critically ill neonates suspected of having a genetic etiology were offered rtGS. All sequencing, analysis, and interpretation of data were performed in a central genomics center at Tel-Aviv Sourasky Medical Center. Rapid results were expected within 10 days. A secondary analysis report, issued within 60 days, focused mainly on cases with negative rapid results and actionable secondary findings. Pathogenic, likely pathogenic, and highly suspected variants of unknown significance (VUS) were reported. Main Outcomes and Measures: Diagnostic rate, including highly suspected disease-causing VUS, and turnaround time for rapid results. Clinical utility was assessed via questionnaires circulated to treating neonatologists. Results: A total of 130 neonates across Israel (70 [54%] male; 60 [46%] female) met inclusion criteria and were recruited. Mean (SD) age at enrollment was 12 (13) days. Mean (SD) turnaround time for rapid report was 7 (3) days. Diagnostic efficacy was 50% (65 of 130) for disease-causing variants, 11% (14 of 130) for VUS suspected to be causative, and 1 novel gene candidate (1%). Disease-causing variants included 12 chromosomal and 52 monogenic disorders as well as 1 neonate with uniparental disomy. Overall, the response rate for clinical utility questionnaires was 82% (107 of 130). Among respondents, genomic testing led to a change in medical management for 24 neonates (22%). Results led to immediate precision medicine for 6 of 65 diagnosed infants (9%), an additional 2 (3%) received palliative care, and 2 (3%) were transferred to nursing homes. Conclusions and Relevance: In this national cohort study, rtGS in critically ill neonates was feasible and diagnostically beneficial in a public health care setting. This study is a prerequisite for implementation of rtGS for ill neonates into routine care and may aid in design of similar studies in other public health care systems.

Meconium-stained amniotic fluid and the need for paediatrician attendance.

AIM: To determine perinatal parameters among term newborn infants born by vaginal delivery with meconium-stained amniotic fluid (MSAF) that needed paediatrician assistance. METHODS: Paediatricians who were in attendance in the delivery room due to MSAF among term infants completed 775 reports regarding the infants' delivery conditions, and the assistance provided. We defined 'paediatrician attendance needed' for a subgroup of infants for whom we retrospectively determined that paediatrician attendance in the delivery room was required. RESULTS: 'Paediatrician attendance needed' was determined in 31 (4%) cases. Among cases with documented normal foetal monitor, only 10 (1.8%) were defined as 'paediatrician attendance needed', a percentage significantly lower than among infants born following non-reassuring foetal monitor: 21 (9.7%) (p < 0.001). 'Paediatrician attendance needed' was predicted by non-reassuring foetal monitor [OR 6.02 (CI 2.72-13.31), p < 0.001], maternal fever [OR 6.34 (1.92-20.92), p = 0.002] and younger maternal age (for every year) [OR 0.889 (CI 0.82-0.96), p = 0.003]. CONCLUSIONS: Term newborn infants born by vaginal delivery with MSAF with documented normal tracing foetal monitor are at low risk of the need for paediatrician assistance. Paediatrician attendance in the delivery room in labour involving MSAF should be recommended when non-reassuring foetal monitor tracing is observed and should also be considered when maternal fever is recorded, and/or thick meconium is observed.

Short-term outcome among term singleton infants with intrapartum oligohydramnios.

AIM: To evaluate rates of early short-term neonatal complications among term singleton newborn infants with oligohydramnios. METHODS: Retrospective data were collected on 456 term infants with prenatal diagnosis of oligohydramnios and on matched controls, including information on maternal condition and on infant perinatal complications. RESULTS: Infants in the study group were born with lower birthweight and were SGA compared with those in the control group. Rates of renal malformations were significantly higher in the study group compared with the controls (15-3.3% and 3-0.7%, respectively; p = 0.007). Among the severe oligohydramnios subgroup (Amniotic Fluid Index <2), renal anomalies were even more prevalent compared to other infants with oligohydramnios and to the controls (6-9.8%, 9-2.3% and 3-0.7%, respectively; p < 0.001). The incidence of skeletal deformities (developmental dislocation of hip and torticollis) was higher among the study group. CONCLUSION: Term infants with oligohydramnios that was detected near birth are associated with a greater prevalence of renal malformations (mostly mild hydronephrosis) as well as congenital torticollis and developmental dislocated hips compared with controls. Postnatal renal evaluation should be considered in infants with severe oligohydramnios.