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Parental involvement in the care of their baby in family rooms in neonatal intensive care units (NICUs) can be improved. This could be done with an electronic medical report completed by the parents, which is then linked to the patient record system. The parents selected for this study completed an electronic diary during their stay in the NICU, while the staff answered a questionnaire about their opinion on the usefulness of the parents' diary. The length of stay, length of time the baby spent in Kangaroo care, breastfeeding, time given to breastfeeding, feeling of tiredness, the capability of identifying the newborn's signals, and parents' opinion on the diary were variables in the study. The NICU staff's opinion about the usefulness of the diary in decision-making was sought using a questionnaire. Eleven mothers and three fathers completed the diary. The median time for staying in the ward was 20 hours/day. The median time in Kangaroo care was 3 hours/day. The majority of mothers were breastfeeding on average 5 times per day. The commonest length of time for breastfeeding was 1 to 2 hours/day. The parents felt somewhat tired during their stay. All parents recognized their child's signals mostly or all the time. Most parents were happy with the diary. The nursing staff's opinions on the usefulness of the diary too were uniformly positive, whereas the doctors' opinions varied from positive to critical in nature. In conclusion, the diaries provided us with new information about parents' perceptions in the NICU. The nurses found the diary useful whereas the doctors were more critical.

Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins, are reported to cause skeletal ciliopathies. Here, we summarize genetic and phenotypic features of 34 affected individuals from 29 families with skeletal ciliopathies. Molecular diagnostic testing was performed using massively parallel sequencing (MPS) in combination with copy number variant (CNV) analyses and in silico filtering for variants in known skeletal ciliopathy genes. We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2. Four variants located in non-canonical splice sites of DYNC2H1, EVC, and KIAA0753led to aberrant splicing that was shown by sequencing of cDNA. Furthermore, CNV analyses showed an intragenic deletion of DYNC2H1in one individual and a 6.7 Mb de novo deletion on chromosome 1q24q25 in another. In five unsolved cases, MPS was performed in family setting. In one proband we identified a de novo variant in PRKACAand in another we found a homozygous intragenic deletion of IFT74, removing the first coding exon and leading to expression of a shorter message predicted to result in loss of 40 amino acids at the N-terminus. These findings establish IFT74as a new skeletal ciliopathy gene. In conclusion, combined single nucleotide variant, CNV and cDNA analyses lead to a high yield of genetic diagnoses (90%) in a cohort of patients with skeletal ciliopathies.

IMPORTANCE: Establishing stable breathing is a key event for preterm infants after birth. Delivery of pressure-stable continuous positive airway pressure and avoiding face mask use could be of importance in the delivery room. OBJECTIVE: To determine whether using a new respiratory support system with low imposed work of breathing and short binasal prongs decreases delivery room intubations or death compared with a standard T-piece system with a face mask. DESIGN, SETTING, AND PARTICIPANTS: In this unblinded randomized clinical trial, mothers threatening preterm delivery before week 28 of gestation were screened. A total of 365 mothers were enrolled, and 250 infants were randomized before birth and 246 liveborn infants were treated. The trial was conducted in 7 neonatal intensive care units in 5 European countries from March 2016 to May 2020. The follow-up period was 72 hours after intervention. INTERVENTIONS: Infants were randomized to either the new respiratory support system with short binasal prongs (n = 124 infants) or the standard T-piece system with face mask (n = 122 infants). The intervention was providing continuous positive airway pressure for 10 to 30 minutes and positive pressure ventilation, if needed, with the randomized system. MAIN OUTCOMES AND MEASURES: The primary outcome was delivery room intubation or death within 30 minutes of birth. Secondary outcomes included respiratory and safety variables. RESULTS: Of 246 liveborn infants treated, the mean (SD) gestational age was 25.9 (1.3) weeks, and 127 (51.6%) were female. A total of 41 infants (33.1%) receiving the new respiratory support system were intubated or died in the delivery room compared with 55 infants (45.1%) receiving standard care. The adjusted odds ratio was statistically significant after adjusting for stratification variables (adjusted odds ratio, 0.53; 95% CI, 0.30-0.94; P = .03). No significant differences were seen in secondary outcomes or safety variables. CONCLUSIONS AND RELEVANCE: In this study, using the new respiratory support system reduced delivery room intubation in extremely preterm infants. Stabilizing preterm infants with a system that has low imposed work of breathing and binasal prongs as interface is safe and feasible. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT02563717

The aim of the study was to investigate whether splanchnic oxygenation (SrSO2), measured with near-infrared spectroscopy (NIRS), during the first week of life is associated with the risk of developing necrotizing enterocolitis (NEC) in extremely preterm infants. This was a prospective observational cohort study including extremely preterm infants (<28 weeks of gestation) born at Karolinska University Hospital from September 2014 to December 2016. Using 1-hour NIRS monitoring during enteral feeding, mainly continuous enteral feeding, in the first week of life we measured both cerebral and splanchnic oxygenation. Primary outcome was risk of developing NEC (Bell stage = II). Secondary outcome was the association between low mean SrSO2during the first week of life and postnatal age at full enteral nutrition. We enrolled 52 extremely preterm newborns, but only 45 infants had complete NIRS data. One infant developed NEC within 1 day of NIRS monitoring and was excluded from the study. Median gestational age was 25.6 weeks (range 23.0–27.9) and median birth weight 698 g (range 485–1353). Eight infants developed NEC at the median postnatal age of 15 days (range 6–35). Median postnatal age at full enteral nutrition was 10 days (range 6–23). Infants with mean SrSO2<30% had a higher risk for developing NEC compared with those with SrSO2>30% (crude risk ratio 5.25; 95% CI [1.19–23.01]). Small for gestational age, gestational age, birth weight, postnatal age did not affect the results. We found no association between SrSO2and age at full enteral nutrition. Low mean SrSO2(<30%) during the first week of life is associated with an increased risk for developing NEC in extremely preterm infants on mainly continuous enteral nutrition.

Newborn infants in intensive care units are exposed to several unfamiliar smells, mostly related to the nosocomial environment. How the preterm baby perceives these olfactory stimulations remains unclear. Near-infrared spectroscopy can be performed noninvasively above the olfactory cortex to monitor changes of cerebral blood flow as an indicator of cortical activation. The aim of this study was to explore by near-infrared spectroscopy how odorous substances routinely used in the neonatal intensive care unit influence bilateral cortical hemodynamics in the olfactory region of the brains of preterm infants. Specifically, a detergent (Neomidil) and an adhesive remover (Remove) have been tested. Twenty preterm neonates of gestational age 30–37 wk (mean 33.7 ± 2.3 SD) and postconceptional age 32–37.3 wk (mean 35.5 ± 2.75 SD) were monitored by near-infrared spectroscopy. Two optode pairs were placed above the anterior orbitofrontal gyri, which is involved in olfactory processing, on each side of the skull. Fifteen babies were exposed to the smell of a disinfectant and five babies to that of a detergent, both applied to small cotton pads. Changes of oxygenated Hb and deoxygenated Hb were recorded before, during, and after a 10-s stimulus. In 17 out of 20 babies, there was a decrease in oxygenated Hb and total Hb after the exposure to the substances. The decrease was significantly greater in the right side than in the left side. This change was different from that observed in our previous study after exposure to colostrum and the pleasant smell of vanilla, which elicited an increase in blood oxygenation in the same region. The biologic significance of this finding is unknown. We conclude that cortical hemodynamic modifications occur in the preterm newborn after exposure to preparations commonly used in the neonatal intensive care unit. A lateralization seems to occur in processing unpleasant olfactory cues.

Newborn infants in intensive care units are exposed to several unfamiliar smells, mostly related to the nosocomial environment. How the preterm baby perceives these olfactory stimulations remains unclear. Near-infrared spectroscopy can be performed noninvasively above the olfactory cortex to monitor changes of cerebral blood flow as an indicator of cortical activation. The aim of this study was to explore by near-infrared spectroscopy how odorous substances routinely used in the neonatal intensive care unit influence bilateral cortical hemodynamics in the olfactory region of the brains of preterm infants. Specifically, a detergent (Neomidil) and an adhesive remover (Remove) have been tested. Twenty preterm neonates of gestational age 30–37 wk (mean 33.7 ± 2.3 SD) and postconceptional age 32–37.3 wk (mean 35.5 ± 2.75 SD) were monitored by near-infrared spectroscopy. Two optode pairs were placed above the anterior orbitofrontal gyri, which is involved in olfactory processing, on each side of the skull. Fifteen babies were exposed to the smell of a disinfectant and five babies to that of a detergent, both applied to small cotton pads. Changes of oxygenated Hb and deoxygenated Hb were recorded before, during, and after a 10-s stimulus. In 17 out of 20 babies, there was a decrease in oxygenated Hb and total Hb after the exposure to the substances. The decrease was significantly greater in the right side than in the left side. This change was different from that observed in our previous study after exposure to colostrum and the pleasant smell of vanilla, which elicited an increase in blood oxygenation in the same region. The biologic significance of this finding is unknown. We conclude that cortical hemodynamic modifications occur in the preterm newborn after exposure to preparations commonly used in the neonatal intensive care unit. A lateralization seems to occur in processing unpleasant olfactory cues.

In mammals, perception of smells during the first hours of life is an essential prerequisite for adaptation of the newborn to the new extrauterine world. Functional magnetic resonance studies have shown that olfactory impression is processed in the lateral and anterior orbito-frontal gyri of the frontal lobe. Near-infrared spectroscopy (NIRS) can detect changes in oxygenated [Hb O2], and deoxygenated [Hb H] Hb during cortical activation. The aim of this study was to assess by NIRS olfactory cortex activity in newborn infants receiving olfactory stimuli. Twelve males and 11 females were studied when awake at 6 h to 8 d after birth. NIRS monitoring was carried out using two optodes placed above the left anterior orbito-frontal gyri. Each newborn was exposed for 30 s to two different smell stimuli—mother's colostrum and vanilla—and to a negative control, distilled water. Changes in Hb concentration were measured over the orbito-frontal region. During exposure to vanilla, [Hb O2] increased significantly over the left orbito-frontal area in all babies. The magnitude of the [Hb O2] increase over the illuminated region during colostrum exposure was inversely related to postnatal age. We conclude that monitoring Hb changes by NIRS can be valuable in assessing olfactory responsiveness in infants.

In mammals, perception of smells during the first hours of life is an essential prerequisite for adaptation of the newborn to the new extrauterine world. Functional magnetic resonance studies have shown that olfactory impression is processed in the lateral and anterior orbito-frontal gyri of the frontal lobe. Near-infrared spectroscopy (NIRS) can detect changes in oxygenated Hb O2, and deoxygenated Hb H Hb during cortical activation. The aim of this study was to assess by NIRS olfactory cortex activity in newborn infants receiving olfactory stimuli. Twelve males and 11 females were studied when awake at 6 h to 8 d after birth. NIRS monitoring was carried out using two optodes placed above the left anterior orbito-frontal gyri. Each newborn was exposed for 30 s to two different smell stimuli—mother’s colostrum and vanilla—and to a negative control, distilled water. Changes in Hb concentration were measured over the orbito-frontal region. During exposure to vanilla, Hb O2increased significantly over the left orbito-frontal area in all babies. The magnitude of the Hb O2increase over the illuminated region during colostrum exposure was inversely related to postnatal age. We conclude that monitoring Hb changes by NIRS can be valuable in assessing olfactory responsiveness in infants.