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Objective  The aim of this study is to evaluate high-risk pregnant females' offspring as regard the presence of any medical condition, hereditary disorder, or major anomaly as well as to document parental sociodemographic characteristics and compliance with follow-up schedules of fetal medicine and clinical genetic clinics. Study Design  This prospective 2-year cohort study of neonates and infants reported the referral indications, investigations, and diagnoses obtained through prenatal and postnatal examinations. It also reported their parental follow-up vigilance. Results  Of the 811 infants of high risk females referred 460 (56.7%) came for assessment. Mean parental consanguinity and endogamy were 67 and 71.3%, respectively. All pregnant mothers underwent first-trimester biochemical testing (plasma protein-A, α-fetoprotein [AFP], human chorionic gonadotropin [hCG]) and serial ultrasound examinations. Seventy mothers needed second-trimester biochemical testing (AFP, hCG, and estriol). Sixty-two mothers underwent amniocentesis where G-banding karyotype, fluorescence in situ hybridization and targeted molecular testing for the specific gene mutation of single gene disorders were conducted according to suspected disorders. High quality fetal ultrasound was performed when brain malformations were suspected, while 16 fetuses required brain MRI examination. Mean age of newborns at first examination was 26.5 days. They were grouped according to the maternal indication for referral. Upon examination, 18 neonates had confirmed congenital malformations/genetic disorders. Five of them were diagnosed prenatally. In four other fetuses with single gene disorder, the molecular diagnosis of their affected siblings was not established prior to this pregnancy; thus, prenatal diagnosis was not possible. The remaining nine cases were diagnosed postnatally. Conclusion  Parental consanguinity and endogamy were increased among high-risk pregnancies. Public awareness about potential adverse effects of consanguineous marriages and the importance of genetic testing are imperative. A structured multidisciplinary team of specialists in fetal medicine, clinical genetics, and neonatology provides good genetic services. Expansion and financial support of these services are urgently required. Key Points A multidisciplinary team provides good genetic services in high-risk pregnancies. Parental consanguinity and endogamy are increased among high-risk pregnancies. Increased public awareness about genetic testing importance and financial support are imperative. [ABSTRACT FROM AUTHOR]

Interstitial lung diseases in children are a diverse group in terms of etiology and pathogenesis. With advances in genetic testing, mutations in surfactant protein have now been identified as the etiology for childhood interstitial lung disease of variable onset and severity, ranging from fatal acute respiratory distress syndrome (RDS) in neonates to chronic lung disease in adults. We presented an 11-month-old girl with surfactant protein C deficiency and secondary pulmonary hypertension, successfully treated with hydroxychloroquine, and provided a detailed discussion of the clinical and diagnostic approach and management. [ABSTRACT FROM AUTHOR]

The issues of vertical viral transmission from mother to fetus and the potential complications caused by SARS-CoV-2 coagulopathy are still unclear. There are few literature data about the vertical transmission of SARS-CoV-2 and health outcomes in neonates born to mothers with symptomatic or asymptomatic coronavirus disease, with the existing data based on small sample sizes. This case series study consists of two newborn children (one pre-term and one term) who were born to SARS-CoV-2-positive mothers and admitted to the neonatal intensive care unit a few hours after birth. One child had cyanotic changes that affected the entire left leg and the left forearm, with multiple livid changes on the front of the chest and abdomen, the right upper arm, right thigh, neck, and face, and one child had an altered umbilical cord. The first child was treated conservatively, and the second child was treated surgically. [ABSTRACT FROM AUTHOR]

Monoamniotic twins represent a high-risk pregnancy requiring intense follow-up, elective birth and careful consideration of the mode and timing of delivery. We conducted this study to evaluate the perinatal and neonatal outcomes of monoamniotic twin pregnancies in the largest tertiary hospital in Finland. This was a retrospective cohort study including all monoamniotic twin pregnancies during a 17-year period (2002–2018) managed in Helsinki University Hospital. Data on mothers and children were collected from patient files. Chorionicity and amnionicity were defined in first-trimester ultrasound screening. There were altogether 31 monoamniotic twin pregnancies during the study period, including four cases of conjoined twins which all underwent termination of pregnancy, and three miscarriages. In the remaining 24 pregnancies that continued past 24 weeks of gestation there was 97.9% survival (one intrauterine death). Three pregnancies were complicated with twin-to-twin transfusion syndrome. All children were delivered by cesarean section with a mean gestational age of 32 + 5 weeks (27 + 1–34 + 2 weeks). Respiratory distress syndrome (RDS) was observed in 57% (27/47) of neonates and grade I–II intraventricular haemorrhage (IVH) in 6.3% (3/47) of neonates. There were no neonatal deaths and no maternal complications. Monoamniotic twinning is a rare form of pregnancy and carries risks for perinatal and neonatal complications. With timely diagnosis, close monitoring in specialized feto-maternal unit and elective delivery at 32–34 weeks the outcome is usually excellent. [ABSTRACT FROM AUTHOR]

Objective  Positive CSF culture is the gold standard for the diagnosis of meningitis but it carries poor sensitivity. CSF procalcitonin (PCT) is shown to have some utility for the diagnosis of meningitis though there are limited studies in neonatal age group. We planned this study to compare CSF, serum, and CSF to serum PCT levels in neonates with confirmed, probable, and nonmeningitis groups to determine its optimal cut-off in CSF and serum for diagnosing meningitis. Study Design  Sixty-seven neonates who qualified for lumbar puncture were enrolled in the study. Neonates were categorized into confirmed meningitis, i.e., CSF cytochemistry and culture positive (N  = 17), probable meningitis, i.e., CSF cytochemistry positive but culture negative (N  = 25) and nonmeningitis, i.e., both cytochemistry and culture negative (N  = 25). CSF and serum samples were stored at −80°C for PCT assay. Results  Significant difference was seen in mean of CSF PCT in neonates with confirmed (0.31 ng/mL), probable (0.22 ng/mL), and nonmeningitis (0.11 ng/mL) groups. Similarly, significant difference was observed in serum PCT levels also, though the ratio of serum to CSF PCT was comparable. At cut-off of 0.2 ng/mL, CSF PCT had sensitivity of 95.2% and specificity of 96% in the diagnosis of meningitis. Conclusion  CSF PCT is more specific marker for the diagnosis of neonatal meningitis as compared with serum PCT and CSF to serum PCT ratio. Key Points CSF procalcitonin is a better marker than serum procalcitonin for diagnosing neonatal meningitis. It is better than serum procalcitonin and CSF to serum procalcitonin ratio. At cut-off of >0.2 ng/mL CSF procalcitonin can diagnose neonatal meningitis with 96% specificity. [ABSTRACT FROM AUTHOR]

Biallelic variants in the pancreas-specific transcription factor 1A (PTF1A) gene are a rare cause of permanent neonatal diabetes. We report a case of neonatal diabetes with unique clinical manifestations. The clinical diagnosis of the affected infant was confirmed by insufficient endocrine and exocrine pancreas activity; however, the pancreas was normal in imaging. Molecular analyses identified a novel homozygous single nucleotide variant (Chr10, g.23508441T > G), affecting a highly conserved nucleotide within a distal enhancer of the PTF1A gene. The literature review showed that most of these patients had IUGR and imaging evidence of pancreatic agenesis or hypoplasia. We suggest that pancreatic imaging and evaluation of exocrine pancreas function can help early confirmation of the diagnosis in patients with permanent neonatal diabetes. [ABSTRACT FROM AUTHOR]

Considering the effects of bile-acid levels on fetal lungs and pulmonary surfactants, we hypothesized that in the presence of intrahepatic pregnancy cholestasis (ICP), poor neonatal respiratory problems are observed in relation to the severity of the disease. Delivery timing with the presence of ICP is scheduled during late-preterm and early term gestational weeks. The aim of this study was to assess ICP and disease severity effects on transient tachypnea of the newborn (TTN) in uncomplicated fetuses. This study comprised 1,097 singleton pregnant women who were separated into three groups—control, mild ICP, and severe ICP. The pregnant women diagnosed with ICP between January 2010 and September 2020 was investigated using the hospital's database. For the control group, healthy pregnant women who met the same exclusion criteria and were similar in terms of maternal age, gestational age at delivery, and mode of delivery were analyzed. The TTN rate was 14.5% in the severe ICP group, 6.5% in the mild ICP group, and 6.2% in the control group. The TTN rate in the severe ICP group was significantly higher than that in the other groups (p<0.001). Similarly, the rate of admission to the neonatal intensive care unit was significantly higher in the severe ICP group than in the other groups (p<0.001). According to Pearson correlation analyses, maternal serum bile–acid levels were positively correlated with TTN (r=0.082; p=0.002). Severe ICP, but not mild ICP, and serum bile–acid levels were positively correlated with increased TTN risk and reduced pulmonary surfactant levels. [ABSTRACT FROM AUTHOR]

Objective: To evaluate whether 1% aqueous chlorhexidine gluconate (CHG) when compared with 2% aqueous chlorhexidine gluconate is non-inferior for neonatal skin antisepsis.Design: Parallel, blinded, non-inferiority randomised trial.Setting: Level III, academic, neonatal intensive care unit.Patients: Infants born at 260/7 to 426/7 weeks of gestation from June 2019 to December 2019.Interventions: Participants were randomised to skin antisepsis by either 1% aqueous CHG or 2% aqueous CHG.Main Outcome Measures: The primary outcome was the proportion of negative skin swab cultures after skin antisepsis. Secondary outcomes were local skin reactions at 0, 6, 12 and 24 hours and plasma chlorhexidine levels in a subset of the study population.Results: A total of 308 neonates with a median gestation age of 34 (31-37) weeks and mean birth weight of 2029 g were randomised on 685 occasions (1% CHG: n=341; 2% CHG: n=344). 93.0% of the post-antisepsis skin swabs were sterile in 1% CHG group compared with 95.6% of the swabs in the 2% CHG group (risk difference -2.7%, 95% CI -6.2% to +0.8%). The lower bound of 95% CI crossed the pre-specified absolute non-inferiority limit of 5%. Neonates developed mild dermatitis on 16 (2.3%) occasions. There was no significant difference in median plasma CHG levels in the two groups, 19.6 (12.5-36.4) and 12.6 (8.7-26.6) ng/mL, respectively.Conclusions: Application of 1% aqueous CHG was not shown to be non-inferior to 2% chlorhexidine aqueous for skin antisepsis in neonates. There were no severe skin-related adverse events in either of the two groups.Trial Registration Number: CTRI/2019/06/019822; (http://ctri.nic.in/Clinicaltrials/pmaindet2.php?trialid=33453&EncHid=&userName=CTRI/2019/06/019822). [ABSTRACT FROM AUTHOR]

OBJECTIVE: Despite improvements in neonatal care, neonatal bacterial meningitis is still an emerging problem worldwide with high rates of mortality. The present study evaluates data on suspected- and culture-proven neonatal bacterial meningitis in the light of a single tertiary reference center experience in Turkey in comparison with the globe. STUDY DESIGN: In this retrospective cohort study newborns admitted to Hacettepe University Ihsan Dogramaci Children's Hospital Neonatal Intensive Care Unit during a 5-year-period between April 2014-May 2019 and who underwent atraumatic lumbar puncture were included. RESULTS: Two hundred sixty-four patients fulfilled the inclusion criteria. Most common symptoms in all patients raised suspicion in favor of NBM and resulted in lumbar puncture were fever (34.5%, n=91), respiratory distress (31.1%, n=82), lethargy (31.1%, n=82), and apnea (26.1%, n=69). The incidence of culture-proven NBM among suspected patients was 5.7% (n=15/264); while the incidence is 3.1 per 1000 (15/4574) at all Neonatal Intensive Care Unit admissions. Respiratory distress (60.0%, n=9/15) and apnea (40.0%, n=6/15) were the most common symptoms in patients with NBM; which may be due to the predominance of premature newborns in the NBM group. The most common microorganisms in CSF cultures were coagulase-negative Staphylococci with Methicillin-resistant Staphylococcus epidermidis being most common among all. CONCLUSIONS: The present study underlines high rates of culture-proven neonatal bacterial meningitis among suspected newborns despite improvements in modern health care, which raises attention to careful evaluation of these patients and early administration of properly-selected antibiotics. Our incidence rates are in keeping with studies from the developed world. [ABSTRACT FROM AUTHOR]

To investigate the characteristics and management of respiratory failure (RF) in moderate-to-late preterm infants. NEOBS was a prospective, multicenter, observational study conducted in 46 neonatal intensive care units caring for preterm infants (30 + 0/7 to 36 + 6/7 weeks of gestation [WG]) in France in 2018. The cohort was stratified into two groups: 30–33 WG (group 1) and 34–36 WG (group 2). Infants with early neonatal RF were included and the outcomes assessed were maternal, pregnancy, and delivery characteristics and how RF was managed. Of the 560 infants analyzed, 279 were in group 1 and 281 were in group 2. Most pregnancies were singleton (64.1%), and 67.4% of women received prenatal corticosteroids (mostly two doses). Infants were delivered by cesarean section in 59.6% of cases; 91.7% of the infants had an Apgar score ≥ 7 at 5 min. More than 90% of infants were hospitalized post-birth (median duration, 36 and 15 days for groups 1 and 2, respectively). Medical intervention was required for 95.7% and 90.4% of the infants in group 1 and group 2, respectively, and included noninvasive ventilation (continuous positive airway pressure [CPAP]: 88.5% and 82.9%; high-flow nasal cannula: 55.0% and 44.7%, or other) and invasive ventilation (19.7% and 13.2%). The two main diagnoses of RF were respiratory distress syndrome (39.8%) and transient tachypnea of the newborn (57.3%). Surfactant was administered to 22.5% of the infants, using the less invasive surfactant administration (LISA) method for 34.4% of the patients. In the overall population, 8.6% of the infants had respiratory and/or hemodynamic complications. The NEOBS study demonstrated that CPAP was widely used in the delivery room and the LISA method was chosen for 34.4% of the surfactant administrations for the management of RF in moderate-to-late preterm infants. The incidence of RF-related complications was low. [ABSTRACT FROM AUTHOR]

In the article, the authors discuss the benefits and disadvantages of newborn screening (NBS) for rare diseases. Topics include the recommendation by the U.S. Centers for Disease Control and Prevention (CDC) of NBS, the promising results of NBS for cystic fibrosis (CF) in randomized controlled trials, and the potential harms of false-positive or false-negative NBS results to patients.

Quantitative nonlinear dynamics methods were used to study EEGs of newborns diagnosed with diseases accompanied by seizures and control EEGs of apparently healthy newborns. The control EEGs were found to have properties close to those of white noise. The EEGs of newborns with seizures had more pronounced regular properties. The obtained results may provide a basis for a technique for differentiating between newborns suspected for diseases accompanied by seizures and apparently healthy newborns. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 33-year-old G3P1 mother and maternal serologies were protective, and rupture of membranes occurred at delivery. Topics include the pathologist contacted the neonatal intensive care unit regarding the microscopic examination of the umbilical cord, which demonstrated acute chorioamnionitis, chorionic vasculitis and umbilical cord phlebitis, and the triangular shaped microabscesses with their bases adjacent to the perimeter of the umbilical cord were present.

As whole genome sequencing is being considered as a tool to deliver expanded newborn screening (NBS) globally, the range of equivocal results it could produce are gaining increased attention. For cystic fibrosis (CF) screening, the use of next generation sequencing within existing UK NBS programmes would increase the number of uncertain designations returned within results, including that of Cystic Fibrosis Screen Positive Inconclusive Diagnosis (CFSPID). However, the experiences of families already living with this designation have been under-explored. This study uses in-depth interviews to explore the perspectives of sixteen parents who received positive results from CF NBS, with varying degrees of prognostic un/certainty; parents with a child diagnosed with CF (n = 6), CF carrier status (n = 3) and those with the CFSPID designation (n = 7). The biographically disruptive nature of positive NBS results-regardless of immediate relevance to the child-dominated early experiences of positive results across all groups. For those with CF, biographical reparation involved becoming 'a CF family ', underscoring biological kinship bonds and reinforcing familial identity. For those with uncertain results, biographical re-calibration was more complex. Diagnostic and prognostic uncertainty posed a barrier to entry for both the ' CF world' and the ' healthy kid' world, leading parents to attempt to minimise its role, either through rejection, or re-interpretation of their child's result. Other parents, however, experienced biographical reparation more dynamically. The concept of 'genetic nomadism' captures accounts of oscillation between the two worlds; movements that were responsive to evolving health experiences, as well as social, environmental and temporal factors. Through the concept of genetic nomadism, this paper delineates both the productive, as well as divisive, nature of uncertainty for biographical reparation in the aftermath of NBS, as well as the strategies parents use to harness it, in order to successfully navigate the world with a child with an ambiguous genetic future. • All positive NBS results can be biographically disruptive and require identity repair. • Use of next generation sequencing in CF NBS increases the number of equivocal results. • Parents minimise the uncertainty of these results by rejecting or re-interpreting them. • Others oscillate between the 'CF world' and 'healthy world' depending on context. • 'Genetic nomadism' describes the displacement parents experience from both worlds. [ABSTRACT FROM AUTHOR]

The article focuses on the evaluation of screening for severe combined immunodeficiency (SCID) in Greta Britain by the National Health Service (NHS) newborn blood spot (NBS) screening programme. Topics include the nature of SCID as a rare disease that affects the immune system, determining if SCID works in practice as part of the existing NBS screening programme, and the changes made to the Bacillus Calmette-Guérin (BCG) vaccination programme in Great Britain.

Background: Women with chronic hypertension are at increased risk for adverse maternal and perinatal outcomes. Maternal serum angiogenic markers, such as soluble fms-like tyrosine kinase 1 and placental growth factor, can be used to triage women with suspected preeclampsia. However, data about these markers in pregnant women with chronic hypertension are scarce.Objective: We aimed to evaluate the predictive accuracy of maternal serum levels of soluble fms-like tyrosine kinase 1, placental growth factor, and their ratio for predicting adverse maternal and perinatal outcomes in women with chronic hypertension.Study Design: This was a retrospective analysis of prospectively collected data from January 2013 to October 2019 at the University of Vienna Hospital, Vienna, Austria. The inclusion criteria were pregnant women with chronic hypertension and suspected preeclampsia. The primary outcome of this study was the prognostic performance of angiogenic markers for the prediction of adverse maternal and perinatal outcomes in pregnant women with chronic hypertension. The accuracy of angiogenic markers for predicting adverse composite outcomes was assessed with a binomial logistic regression. The accuracy of each marker was assessed using receiver operating characteristics curves and area under the curve values. Area under the curve values were compared using De Long's test.Results: Of the 145 included women with chronic hypertension and suspected superimposed preeclampsia, 26 (17.9%) women developed complications (ie, composite adverse maternal or fetal outcomes) within 1 week of assessment (average gestational age at assessment, 29.9 weeks) and 35 (24.1%) developed complications at any time (average gestational age at assessment, 30.1 weeks). In women who developed complications at any time, the median maternal serum soluble fms-like tyrosine kinase-1 to placental growth factor ratio was 149.4 (interquartile range, 64.6-457.4) compared with 8.0 (interquartile range, 3.37-41.2) for women who did not develop complications (P<.001). The area under the curve values for the maternal serum soluble fms-like tyrosine kinase-1 to placental growth factor ratio Z-score (0.95; 95% confidence interval, 0.90-0.99) and placental growth factor level Z-score (0.94; 95% confidence interval, 0.88-0.99) for predicting complications within 1 week of assessment were very high. The area under the curve values for new-onset edema (0.61; 95% confidence interval, 0.52-0.70), proteinuria (0.62; 95% confidence interval, 0.52-0.71), high mean arterial pressure (0.52; 95% confidence interval, 0.50-0.54), and other symptoms of preeclampsia (0.57; 95% confidence interval, 0.49-0.65) were all significantly lower than for the angiogenic markers (P<.001 for all). Women who had an angiogenic imbalance and/or proteinuria had the highest rate of complications (28/57, 49.1%). The rate of complications in women with an angiogenic imbalance and/or proteinuria was significantly higher than in women with either proteinuria, other symptoms, or intrauterine growth restriction in the absence of an angiogenic imbalance (49.1% vs 16.7%; P=.039). The highest positive and negative predictive values for predicting adverse outcomes were demonstrated by an angiogenic imbalance and/or proteinuria criteria with a positive predictive value of 49.1% (95% confidence interval, 50.4%-57.9%) and a negative predictive value of 92% (95% confidence interval, 85.5%-95.8%). Longitudinal changes in measurements of the gestational age-corrected ratio of soluble fms-like tyrosine kinase-1 to placental growth factor up to the last measurement had a significantly higher area under the curve value than the last measurement alone (area under the curve, 0.95; 95% confidence interval, 0.92-0.99 vs 0.87; 95% confidence interval, 0.79-0.95; P=.024) CONCLUSION: Maternal serum angiogenic markers are superior to clinical assessment in predicting adverse maternal and perinatal outcomes in pregnant women with chronic hypertension. Repeated measurements of the ratio of soluble fms-like tyrosine kinase-1 to placental growth factor seems beneficial given the better predictive accuracy compared with a single measurement alone. The use of angiogenic makers should be implemented in clinical management guidelines for pregnant women with chronic hypertension. [ABSTRACT FROM AUTHOR]