Collura, Christopher A.

Central apnea is a major cause of death in neonates with trisomy 18 (T18) and is likely due to immaturity of the respiratory drive, similar to the pathological mechanism in apnea of prematurity. Although caffeine has long been used for apnea of prematurity, its use has not yet been reported for infants with T18. Here we describe an infant with T18 receiving comfort-focused care and palliative transport home. Of utmost importance to her family was enabling the patient to spend time at home before her death. However, immediately before transport, she developed severe central apnea, raising concern that she may not survive the transfer. Caffeine was trialed in the hopes of reducing central apnea events. Its use was successful and facilitated safe transport, allowing the patient to uneventfully transition home, where she spent several meaningful weeks with her family before her death.

BACKGROUND: Severe intraventricular hemorrhage (IVH) is a leading mortality risk factor among extremely premature neonates. Because other life-threatening conditions also occur in this population, it is unclear whether severe IVH is independently associated with death. The existence and potential implications of regional variation in severe IVH–associated mortality are unknown. METHODS: We performed a retrospective cohort study of mechanically ventilated neonates born at 22 to 29 weeks’ gestation who received care in 242 American NICUs between 2000 and 2014. After building groups composed of propensity score–matched and center-matched pairs, we used the Cox proportional hazards analysis to test our hypothesis that severe IVH would be associated with greater all-cause in-hospital mortality, defined as death before transfer or discharge. We also performed propensity score–matched subgroup analyses, comparing severe IVH–associated mortality among 4 geographic regions of the United States. RESULTS: In our analysis cohort, we identified 4679 patients with severe IVH. Among 2848 matched pairs, those with severe IVH were more likely to die compared with those without severe IVH (hazard ratio 2.79; 95% confidence interval 2.49–3.11). Among 1527 matched pairs still hospitalized at 30 days, severe IVH was associated with greater risk of death (hazard ratio 2.03; 95% confidence interval 1.47–2.80). Mortality associated with severe IVH varied substantially between geographic regions. CONCLUSIONS: The early diagnosis of severe IVH is independently associated with all-cause in-hospital mortality in extremely premature neonates. Regional variation in severe IVH–associated mortality suggests that shared decision-making between parents and neonatologists is strongly influenced by ultrasound-based IVH assessment and classification.

BACKGROUND AND OBJECTIVES: Antenatal consultation between a neonatologist and expectant parent(s) may determine if resuscitation is provided for or withheld from neonates born in the gray zone of viability. In this study, we sought to gain a deeper understanding of uncertainties present and neonatologists’ communication strategies regarding such uncertainties in this shared decision-making. METHODS: A prospective, qualitative study using transcriptions of audio-recorded antenatal consultations between a neonatologist and expectant parent(s) was conducted. Pregnant women were eligible if anticipating delivery in the gray zone of viability (22 0/7–24 6/7 weeks’ gestation). Over 18 months, 25 of 28 pregnant women approached consented to participate. Applied thematic analysis was used to inductively derive and examine conceptual themes. RESULTS: Inductive analysis of consult transcripts revealed uncertainty as a central theme. Several subthemes relating to uncertainty were also derived, including the timing of delivery, NICU course, individual characteristics (of physician, expectant parent(s), and fetus or neonate), and consequences of the decision for the expectant parent(s). Analysis revealed that uncertainty was actively managed by neonatologists through a variety of strategies, including providing more information, acknowledging the limits of medicine, acknowledging and accepting uncertainty, holding hope, and relationship building. CONCLUSIONS: Uncertainty is pervasive within the antenatal consultation for periviable neonates and likely plays a significant role in decision-making toward postnatal resuscitative efforts. Uncertainty complicated, or even paralyzed, decision-making efforts while also providing reassurance toward a positive outcome. Directions for future study should consider whether advanced communication training modulates the impact that uncertainty plays in the shared decision-making encounter.

TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava) is a rare X‐linked condition. As more patients are identified through genetic testing, it is increasingly clear that the original TARP acronym does not fully describe the complete phenotypic spectrum of this syndrome. The presented patient had genetically confirmed TARP syndrome and demonstrated new findings of hydronephrosis and hemodynamically significant hypertrophic obstructive cardiomyopathy. The patient also had physical findings common with previously reported individuals with TARP syndrome in the literature but not described by the TARP acronym. These features include central nervous system dysfunction, renal abnormalities, cardiac lesions other than atrial septal defect or persistent left superior vena cava, and distal limb defects other than talipes equinovarus. By adding to the known spectrum of the TARP phenotype, this report will aid clinicians as they care for patients with this rare condition.

OBJECTIVES: The ethics of maternal-fetal surgery involves weighing the importance of potential benefits, risks, and other consequences involving the pregnant woman, fetus, and other family members. We assessed clinicians’ ratings of the importance of 9 considerations relevant to maternal-fetal surgery. METHODS: This study was a discrete choice experiment contained within a 2015 national mail-based survey of 1200 neonatologists, pediatric surgeons, and maternal-fetal medicine physicians, with latent class analysis subsequently used to identify groups of physicians with similar ratings. RESULTS: Of 1176 eligible participants, 660 (56%) completed the discrete choice experiment. The highest-ranked consideration was of neonatal benefits, which was followed by consideration of the risk of maternal complications. By using latent class analysis, we identified 4 attitudinal groups with similar patterns of prioritization: “fetocentric” (n = 232), risk-sensitive (n = 197), maternal autonomy (n = 167), and family impact and social support (n = 64). Neonatologists were more likely to be in the fetocentric group, whereas surgeons were more likely to be in the risk-sensitive group, and maternal-fetal medicine physicians made up the largest percentage of the family impact and social support group. CONCLUSIONS: Physicians vary in how they weigh the importance of social and ethical considerations regarding maternal-fetal surgery. Understanding these differences may help prevent or mitigate disagreements or tensions that may arise in the management of these patients.

A central principle of justice is that similar cases should be decided in similar ways. In pediatrics, however, there are cases in which 2 infants have similar diagnoses and prognoses, but their parents request different treatments. In this Ethics Rounds, we present such a situation that occurred in a single NICU. Three physician-ethicists analyze the issues.

Diabetic ketoacidosis (DKA) during pregnancy carries significant risk of intrauterine fetal demise, but little is known about its postnatal sequelae in surviving neonates. We report here the case of an infant who was born to a mother with White's class C diabetes mellitus during an episode of DKA. Throughout pregnancy her glucose control was suboptimal, as evidenced by a predelivery glycosylated hemoglobin level of 8.1%. At 33 weeks' gestation, the mother presented with nausea and vomiting, a serum glucose concentration of 575 mg/dL, and other metabolic derangements consistent with DKA. Despite rehydration and insulin therapy, fetal distress necessitated cesarean delivery. At birth the infant required intubation, but her clinical status quickly improved and she was extubated within the first day of life. However, on day-of-life 4 she exhibited seizure-like activity, and subsequent brain MRI revealed bilateral basal ganglia infarctions. Previous research has revealed that the keto acid β-hydroxybutyrate (β-OHB) can cross the placenta into the fetal circulation and thereafter accumulate in the fetal brain, which leads to severe metabolic derangements. Furthermore, β-OHB accumulates rapidly in the basal ganglia of older children during episodes of DKA, wherein its presence is associated with neuronal injury. We suspect that transplacental transfer of maternal β-OHB led to an acquired ketoacidosis in the fetus and that accumulation of β-OHB contributed to neuronal injury and subsequent infarction of the basal ganglia. Further research is necessary to better characterize neonatal complications of maternal DKA, as well as the possible inclusion of β-OHB levels in the goal-directed treatment of this disease.