Educational Impact of Targeted Neonatal Echocardiography and Hemodynamics Programs on Neonatal-Perinatal Medicine Fellows.

OBJECTIVE: Targeted neonatal echocardiography (TNE) is a real-time cardiac imaging modality used by a hemodynamics program to aid in diagnosis, treatment, and monitoring of neonatal cardiovascular illness. This study aimed to describe trainees' perspectives on existing hemodynamics education and perceived impacts of TNE and hemodynamics services on their education. STUDY DESIGN: This was a mixed quantitative and qualitative study that surveyed neonatal-perinatal medicine (NPM) fellow trainees in Canada and the United States, at programs both with and without a hemodynamics service. RESULTS: Ninety-two fellows responded to the survey, of whom 24 (26%) were enrolled in a program with an active hemodynamics service, 64 (70%) were training at a program without a hemodynamics service, and 4 (4%) were unsure. Trainees at centers with a hemodynamics service were more satisfied with their cardiovascular physiology education (91 vs. 69%, p = 0.040). Twenty-five percent of all trainees felt they do not have sufficient hemodynamics training to prepare them for independent practice. Areas of knowledge gaps were identified. Bedside teaching combined with didactic teaching was identified as useful means of teaching. CONCLUSION: Most trainees believed that TNE and a hemodynamics service are valuable educational assets. Thoughtful curriculum design for real-time and consolidation learning, with specific emphasis on content gaps, should be considered. KEY POINTS: · NPM Fellows perceive TNE & Neonatal Hemodynamics service as a valuable educational opportunity.. · Incorporation of TNE/Hemodynamics teaching into NPM curriculum can enrich trainee experience.. · Combining bedside and classroom teaching is key to successful cardiovascular training..

TP63-mutation as a cause of prenatal lethal multicystic dysplastic kidneys.

BACKGROUND: Ectrodactyly-ectodermal dysplasia-clefting syndrome 3 (EEC) is one of the six overlapping syndromes caused by mutations in the tumor protein p63 gene (TP63). EEC is suspected when patients have cleft hands or feet, polydactyly, and syndactyly, abnormal development of the ectodermally derived structures, and orofacial clefting. Genitourinary (GU) anomalies have been identified in patients with EEC, yet these are often under-recognized and under-reported. The available literature on sonographic prenatal findings is sparse, especially when considering GU anomalies. METHODS: We present the case of a male stillborn fetus, who was found antenatally to have multicystic dysplastic kidneys and anhydramnios. Following the termination of pregnancy, examination and autopsy further revealed unilateral polydactyly and bilateral syndactyly which had not been previously identified on antenatal ultrasound. RESULTS: Whole-exome sequencing (WES) revealed a de novo heterozygous pathogenic variant in exon 5 of the TP63 gene: p.His247Arg: c.740A>G (NM_003722.4) which has been reported in the literature. The His247Arg variant has been published as a pathogenic variant in association with EEC, both with and without orofacial clefting. CONCLUSION: Our prenatal case expands the phenotypic spectrum of TP63-related disorders in general. In addition, it adds to the phenotype associated with the His247Arg pathogenic variant responsible for EEC. Further, we highlight the importance of WES as a postnatal tool to help clarify unexpected findings, and as a way to add to the spectrum of existing phenotypes of known single-gene disorders.

Gestational weight gain and the risk of infant mortality amongst women with normal prepregnancy BMI: the Friedmann-Balayla model.

OBJECTIVE: The study of the association between gestational weight gain (GWG) and infant mortality is riddled with methodological concerns, particularly with limitations in accounting for gestational age-specific weight gain. In our study, we developed a new model, which accounts for gestational age, to determine whether insufficient or excessive GWG is associated with an increased risk of infant death amongst women with normal prepregnancy BMI (18.5-24.9 kg/m2). METHODS: We developed and implemented the Friedmann-Balayla model to mitigate gestational age-related biases in our assessment, and conducted a population-based cohort study using the CDC's 2013 Period-Linked Birth-Infant Death data. The impact of GWG according to the 2009 IOM guidelines on the risk of infant mortality was estimated using logistic regression analysis, adjusting for relevant confounders. RESULTS: Our cohort consisted of 1,517,525 singleton deliveries and 6138 infant deaths. Overall, relative to women achieving adequate GWG, neither women gaining insufficient nor excessive weight had greater odds of infant death during the first year of life (OR [95%CI]): 1.06 [0.97-1.17] (p = 0.174), and 0.98 [0.91-1.04] (p = 0.523), respectively. This relationship did not change when restricting our analysis to term or preterm deliveries or when conducting sensitivity analyses accounting for maternal morbidities (p > 0.05). CONCLUSION: Using this novel analytic approach, there does not appear to be an increased risk of infant mortality if GWG falls outside of the IOM guidelines in women with normal prepregnancy BMI. Future studies should apply this methodology to other BMI categories.

Paroxysmal nocturnal haemoglobinuria in a patient with primary Budd-Chiari syndrome: a contraceptive challenge.

CASE REPORT: In this report, we describe the unique case of a 21 year-old woman, gravida 1, para 1, with paroxysmal nocturnal haemoglobinuria (PNH) and Budd-Chiari syndrome, as well as severe vaginismus and cervical stenosis, in need of contraception. Herein, we present the clinical considerations and implications taken to arrive at the right contraceptive choice for the patient. DISCUSSION: Budd-Chiari syndrome is defined by the presence of hepatic venous outflow tract obstruction, which may be due to a number of underlying causes. PNH is a rare, acquired, life-threatening disease characterised by red blood cell destruction (haemolytic anaemia), blood clots (thrombosis) and impaired bone marrow function. PNH is a known underlying cause of Budd?Chiari syndrome. Patients with PNH carry an increased risk of mortality, particularly during pregnancy. As such, pregnancy is absolutely contraindicated in these patients, who require strict contraceptive regimens. However, the presence of both PNH and Budd?Chiari syndrome limits contraceptive choices and poses a contraceptive challenge.

Maternal and obstetrical predictors of sudden infant death syndrome (SIDS).

OBJECTIVE: Public Health initiatives, such as the "Safe to Sleep" campaign, have traditionally targeted infants' risk factors for the prevention of Sudden Infant Death Syndrome (SIDS). However, controversy remains regarding maternal and obstetrical risk factors for SIDS. In our study, we sought out to determine both modifiable and non-modifiable obstetrical and maternal risk factors associated with SIDS. METHODS: We conducted a population-based cohort study using the CDC's Linked Birth-Infant Death data from the United States for the year 2010. The impact of several obstetrical and maternal risk factors on the risk of overall infant mortality and SIDS was estimated using unconditional regression analysis, adjusting for relevant confounders. RESULTS: Our cohort consisted of 4,007,105 deliveries and 24,174 infant deaths during the first year of life, of which 1991 (8.2%) were due to SIDS. Prominent risk factors for SIDS included (OR [95% CI]): black race, 1.89 [1.68-2.13]; maternal smoking, 3.56 [3.18-3.99]; maternal chronic hypertension, 1.73 [1.21-2.48]; gestational hypertension, 1.51 [1.23-1.87]; premature birth <37 weeks, 2.16 [1.82-2.55]; IUGR, 2.46 [2.14-2.82]; and being a twin, 1.81 [1.43-2.29], p < 0.0001. Relative to a cohort of infants who died of other causes, risk factors with a predilection for SIDS were maternal smoking, 2.48 [2.16-2.83] and being a twin, 1.52 [1.21-1.91], p < 0.0001. Conclusions for practice: While certain socio-demographic and gestational characteristics are important risk factors, maternal smoking remains the strongest prenatal modifiable risk factor for SIDS. We recommend the continuation of Public Health initiatives that promote safe infant sleeping practices and smoking cessation during and after pregnancy.