Neonatal Hyperbilirubinemia: An Updated Appraisal of National Guidelines.

Recent reports from several developed countries have documented a resurgence of bilirubin encephalopathy causing both healthcare and forensic issues. For these reasons, many national pediatric societies have issued recommendations on the diagnosis and the treatment of clinically significant neonatal hyperbilirubinemia. The differences among individual national documents may have an impact on neonatal healthcare. This paper shortly reviews the advantages and the shortcomings of the main international guidelines with a focus on the available evidence.

Lung Ultrasound for Diagnosing Pneumothorax in the Critically Ill Neonate.

OBJECTIVES: To evaluate the accuracy of lung ultrasound for the diagnosis of pneumothorax in the sudden decompensating patient. STUDY DESIGN: In an international, prospective study, sudden decompensation was defined as a prolonged significant desaturation (oxygen saturation <65% for more than 40 seconds) and bradycardia or sudden increase of oxygen requirement by at least 50% in less than 10 minutes with a final fraction of inspired oxygen ≥0.7 to keep stable saturations. All eligible patients had an ultrasound scan before undergoing a chest radiograph, which was the reference standard. RESULTS: Forty-two infants (birth weight = 1531 ± 812 g; gestational age = 31 ± 3.5 weeks) were enrolled in 6 centers; pneumothorax was detected in 26 (62%). Lung ultrasound accuracy in diagnosing pneumothorax was as follows: sensitivity 100%, specificity 100%, positive predictive value 100%, and negative predictive value 100%. Clinical evaluation of pneumothorax showed sensitivity 84%, specificity 56%, positive predictive value 76%, and negative predictive value 69%. After sudden decompensation, a lung ultrasound scan was performed in an average time of 5.3 ± 5.6 minutes vs 19 ± 11.7 minutes required for a chest radiography. Emergency drainage was performed after an ultrasound scan but before radiography in 9 cases. CONCLUSIONS: Lung ultrasound shows high accuracy in detecting pneumothorax in the critical infant, outperforming clinical evaluation and reducing time to imaging diagnosis and drainage.

Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism.

Heterozygous in frame trinucleotide duplications within the PHOX2B gene, leading to poly-alanine expansions, cause Congenital Central Hypoventilation Syndrome. Here we report about a CCHS patient, carrying a +13Ala PHOX2B expansion, whose asymptomatic mother resulted with a low level of mosaicism for the same mutation in peripheral blood cells. Her second pregnancy ended with the spontaneous miscarriage of a fetus who had inherited the PHOX2B mutation, thus confirming germline mosaicism in the mother and the need of proper genetic counseling to CCHS families.

Preterm birth, respiratory failure and BPD: which neonatal management?

Preterm birth is a significant problem in the world regarding perinatal mortality and morbidity in the long term, especially bronchopulmonary dysplasia (BPD). Premature delivery is often associated to failure in transition to create an early functional residual capacity (FRC), since many preterm babies need frequently respiratory support. The first and most effective preventive measure to reduce the incidence of BPD is represented by the attempt to avoid preterm birth. Whenever this fails, the prevention of every known risk factors for BPD should start in the delivery room and should be maintained in the NICU through the use of tailored management of high-risk infants.

First year follow-up of extremely low birth weight premature sextuplets: case report.

High order gestation rates have increased in many western countries in the last decades, which is mostly attributable to a contemporaneous increase in maternal age and infertility treatment. Multiple births have been associated with increased maternal and foetal morbidity and mortality during pregnancy and delivery, including the higher risk for spontaneous abortion, preeclampsia, hydramnios, and maternal haemorrhage. A higher frequency of preterm infants and low birth weight infants have also been reported, as well as a higher rate of malformations, abnormal growth, and trauma at delivery, than in singleton pregnancies. We describe herein the case of six ELBW newborns delivered at 27 weeks and their first year follow-up. All the sextuplets survived and did not have extra uterine growth retardation (EUGR) when discharged from hospital. A developmental delay was detected in five infants at 12 months corrected age (CA), but none of them showed cerebral palsy or severe neurosensorial disabilities.