Longitudinal Analysis of Ventilation Perfusion Mismatch in Congenital Diaphragmatic Hernia Survivors.

OBJECTIVE: To determine the natural history of pulmonary function for survivors of congenital diaphragmatic hernia (CDH). STUDY DESIGN: This was a retrospective cohort study of survivors of CDH born during 1991-2016 and followed at our institution. A generalized linear model was fitted to assess the longitudinal trends of ventilation (V), perfusion (Q), and V/Q mismatch. The association between V/Q ratio and body mass index percentile as well as functional status was also assessed with a generalized linear model. RESULTS: During the study period, 212 patients had at least one V/Q study. The average ipsilateral V/Q of the cohort increased over time (P < .01), an effect driven by progressive reduction in relative perfusion (P = .012). A higher V/Q ratio was correlated with lower body mass index percentile (P < .001) and higher probability of poor functional status (New York Heart Association class III or IV) (P = .045). CONCLUSIONS: In this cohort of survivors of CDH with more severe disease characteristics, V/Q mismatch worsens over time, primarily because of progressive perfusion deficit of the ipsilateral side. V/Q scans may be useful in identifying patients with CDH who are at risk for poor growth and functional status.

Longitudinal Analysis of Pulmonary Function in Survivors of Congenital Diaphragmatic Hernia.

OBJECTIVE: To analyze longitudinal trends of pulmonary function testing in patients with congenital diaphragmatic hernia (CDH) followed in our multidisciplinary clinic. STUDY DESIGN: This was a retrospective cohort study of CDH patients born between 1991 and 2013. A linear mixed effects model was fitted to estimate the trends of percent predicted forced expiratory volume in 1 second (FEV1pp), percent predicted forced vital capacity (FVCpp), and FEV1/FVC over time. RESULTS: Of 268 patients with CDH who survived to discharge, 119 had at least 1 pulmonary function test study. The FEV1pp (P < .001), FVCpp (P = .017), and FEV1/FVC (P = .001) decreased with age. Compared with defect size A/B, those with defect size C/D had lower FEV1pp by an average of 11.5% (95% CI, 2.9%-20.1%; P = .010). A history of oxygen use at initial hospital discharge also correlated with decreased FEV1pp by an average of 8.0% (95% CI, 1.2%-15.0%; P = .023). CONCLUSIONS: In a select cohort of CDH survivors, average pulmonary function declines with age relative to expected population normative values. Those with severe CDH represent a population at risk for worsening pulmonary function test measurements who may benefit from recognition and monitoring for complications.

Cardiac Findings in the Fetus with Cerebral Arteriovenous Malformation Are Associated with Adverse Outcome.

OBJECTIVES: To assess cardiac sequelae of fetal cerebral arteriovenous malformations (CAVMs) and evaluate any association with outcomes. METHODS: We retrospectively analyzed cardiac structure and function in fetuses with CAVMs who underwent fetal echocardiography (October 1999 to August 2015, n = 11), and compared them with normal controls. RESULTS: The median gestational age was 36 weeks (range 18-38). Common abnormal findings included dilated superior vena cava (100%) and right atrium (82%), reduced middle cerebral artery pulsatility index (86%), tricuspid regurgitation (82%), and right ventricular (RV) dysfunction (64%). Hydrops was present in 1 fetus, who did not survive. The median cardiothoracic ratio (CTR) was 0.36 (0.29-0.45, n = 10); the median combined cardiac output indexed to estimated fetal weight (iCCO) was 565 ml/kg/min (379-1,565, n = 7). Of the 11 fetuses, 1 patient elected for termination, and 5 suffered neonatal demise. Comparing survivors (n = 5) and nonsurvivors (n = 6), a larger tricuspid valve (TV) z-score (p = 0.009) and RV dysfunction (p = 0.015) were associated with nonsurvival, and nonsurvivors had a higher iCCO than controls (990 vs. 550 ml/kg/min, p = 0.035). A larger difference between the TV and mitral valve z-scores (surrogate for RV dilation, p = 0.052), and CTR >0.38 (p = 0.0762) tended towards nonsurvival. CONCLUSION: CAVMs impose volume load on the fetal circulation, mainly affecting right heart structures. Increased right heart dilation and dysfunction are associated with nonsurvival.

Human fetal sacrococcygeal extension or 'tail' in the second trimester: prenatal diagnosis, associated findings, and clinical outcome.

BACKGROUND: There are over 30 cases of prenatally diagnosed sacral extensions or human 'tails' in the literature, including isolated and syndromic etiologies. Most cases were reported to resolve by the second trimester and postnatal course was benign. Our objective was to describe the prenatal findings, associated anomalies, and clinical outcome of a series of seven fetuses diagnosed prenatally with fetal sacrococcygeal extension. METHODS: In a prospective study on a series of 4040 consecutive patients seen through our clinic in a 10-year period, 7 patients had a sacrococcygeal extension identified on fetal imaging. Fetal sonographic and magnetic resonance imaging findings, results of genetic testing, and clinical outcomes were analyzed. RESULTS: All seven fetuses had associated anomalies, including neurologic, craniofacial, cardiac, spinal, renal, and musculoskeletal abnormalities, or abnormal ultrasound findings including growth restriction and abnormal umbilical cord Doppler. There were two cases of trisomy 13 and one case of Pfeiffer syndrome. The mean gestational age at diagnosis was 19.3 weeks. CONCLUSION: When a sacrococcygeal extension is seen on fetal imaging, work-up should include detailed fetal imaging and karyotype, and fetal growth should be monitored. Our experience with fetal sacrococcygeal extension demonstrates variability in the underlying presentation and etiology, making counseling in a prenatal setting challenging.

How accurately does current fetal imaging identify posterior fossa anomalies?

OBJECTIVE: The first objective of our study was to describe the prevalence and spectrum of posterior fossa anomalies over 5 years in a major fetal care center where the referral diagnosis (by fetal sonography) was investigated by fetal MRI and, if confirmed, by postnatal MRI if possible. The second objective was to assess the accuracy with which fetal MRI predicts postnatal MRI findings in this population. MATERIALS AND METHODS: We retrospectively identified all cases of suspected fetal posterior fossa anomalies referred to our center from 2002 through 2006. We reviewed maternal, fetal, neonatal, and follow-up records of all cases and fetal and early postnatal imaging studies. RESULTS: Of the 90 cases of suspected fetal posterior fossa anomalies (by fetal sonography) referred over the study period, 60 (67%) were confirmed by fetal MRI. Of 42 live-born infants, 39 (93%) underwent postnatal MRI. There was complete agreement in fetal and postnatal MRI diagnoses in 23 infants (59%). In 16 cases (41%), fetal and postnatal MRI diagnoses disagreed; postnatal MRI excluded fetal MRI diagnoses in six cases (15%) and revealed additional anomalies in 10 cases (26%). CONCLUSION: Although a valuable adjunct to fetal sonography in cases of suspected posterior fossa anomaly, current fetal MRI, particularly in early gestation, has limitations in accurately predicting postnatal MRI abnormalities. Advancing the accuracy of MRI for the diagnosis of posterior fossa anomalies will require greater understanding of normal brain development and improved tissue resolution of fetal MRI. During the interim, our findings strongly support the need for postnatal MRI follow-up in cases with suspected posterior fossa anomalies by fetal MRI.

Does the ex utero intrapartum treatment to extracorporeal membrane oxygenation procedure change morbidity outcomes for high-risk congenital diaphragmatic hernia survivors?

PURPOSE: In high-risk congenital diaphragmatic hernia (CDH), significant barotrauma or death can occur before extracorporeal membrane oxygenation (ECMO) can be initiated. We previously examined ex utero intrapartum treatment (EXIT)-to-ECMO in our most severe CDH patients, but demonstrated no survival advantage. We now report morbidity outcomes in survivors of this high-risk cohort to determine whether EXIT-to-ECMO conferred any benefit. METHODS: All CDH survivors with <15% predicted lung volume (PPLV) from September 1999 to December 2010 were included. We recorded prenatal imaging, defect size, and pulmonary, nutritional, cardiac, and neurodevelopmental outcomes. RESULTS: Seventeen survivors (8 EXIT-to-ECMO, 9 non-EXIT) had an average PPLV of 11.7%. Eight of 9 non-EXIT received ECMO within 2days. There were no significant defect size differences between groups, mostly left-sided (13/17) and type D (12/17). Average follow-up was 6.7years (0-13years). There were no statistically significant differences in outcomes, including supplemental oxygen, diuretics, gastrostomy, weight-for-age Z scores, fundoplication, pulmonary hypertension, stroke or intracranial hemorrhage rate, CDH recurrence, and reoperation. No survivor in our cohort was neurologically devastated. All had mild motor and/or speech delay, which improved in most. CONCLUSIONS: In this pilot series of severe CDH survivors, EXIT-to-ECMO confers neither significant survival nor long-term morbidity benefit. LEVEL OF EVIDENCE: Level III treatment study.

An interdisciplinary project that changed practice in feeding methods after pyloromyotomy.

Postoperative feeding methods for infants with hypertrophic pyloric stenosis (HPS) have remained unchanged for several decades. Conventional feeding methods include a prolonged NPO period immediately after pyloromyotomy, followed by a slow, incremental increase in volume and strength of feedings. Recently, some surgeons have ascribed to a more rapid or ad lib feeding advancement. Needing evidence before making changes to current practice, inpatient surgical nurses at Children's Hospital Boston collaborated with a general pediatric surgeon to conduct a 6-month retrospective study of 36 HPS patients comparing conventional regimen feeds to ad lib feeds by surgeon preference. The project resulted in a study published in the Journal of Pediatric Surgery and demonstrated for staff that the interval from the operating room to toleration of full feedings was less with the ad lib group as compared to the conventional regimen group. In addition, discharges occurred sooner without readmissions occurring in either group. The project resulted in a change in practice of feeding HPS patients postoperatively from the conventional regimen method to the ad lib method.

In utero valvuloplasty for pulmonary atresia with hypoplastic right ventricle: techniques and outcomes.

BACKGROUND: Prenatal intervention for fetuses with pulmonary atresia with an intact ventricular septum (PA/IVS) has the potential to alter right heart physiologic features in utero, facilitating right heart growth and improving the prospect of a biventricular outcome after birth. METHODS: Since 2002, we have considered prenatal intervention for fetal PA/IVS in patients with (1) membranous pulmonary atresia, with identifiable pulmonary valve (PV) leaflets or membrane; (2) an intact or highly restrictive ventricular septum; and (3) right heart hypoplasia, with a tricuspid valve annulus z score of -2 or below and an identifiable but small right ventricle. Intervention was performed through direct cardiac puncture under ultrasound guidance, with percutaneous access or access through a limited laparotomy. RESULTS: Ten fetuses underwent attempted balloon dilation of the PV in utero. The first 4 procedures were technically unsuccessful, and the most-recent 6 were technically successful. Compared with control fetuses with PA/IVS who did not undergo prenatal intervention and had univentricular outcomes after birth, the tricuspid valve annulus, right ventricle length, and PV annulus grew significantly more from midgestation to late gestation in the 6 fetuses who underwent successful interventions. CONCLUSIONS: In utero perforation and dilation of the PV in midgestation fetuses with PA/IVS is technically feasible and may be associated with improved right heart growth and postnatal outcomes for fetuses with moderate right heart hypoplasia in midgestation. There is an important learning curve for this procedure, and much remains to be learned about the selection of appropriate fetuses for prenatal intervention.

Results of in utero atrial septoplasty in fetuses with hypoplastic left heart syndrome.

OBJECTIVES: Neonates with hypoplastic left heart syndrome and intact or highly restrictive atrial septum have a high rate of mortality. We sought to assess the effect of prenatal intervention intended to create atrial septal defects in fetuses with this diagnosis. METHODS: We reviewed the medical records and imaging of all fetuses undergoing intervention for atrial septal defect creation in the setting of hypoplastic left heart syndrome and intact atrial septum. The procedures were performed with a percutaneous cardiac puncture under the guidance of ultrasonography. For the 21 interventions, patient and procedural characteristics were analyzed to identify predictors of neonatal outcome. RESULTS: Of 21 procedures attempted between 24 and 34 weeks' gestation, 19 were technically successful. Fetal demise occurred in two cases. The size of the created defect varied and measured at least 3 mm in six fetuses. Among 19 neonates, a larger atrial septal defect was associated with higher oxygen saturation and less need for intervention prior to surgical single-ventricle palliation. CONCLUSIONS: Technically successful atrial septal defect creation in fetuses with hypoplastic left heart syndrome and intact atrial septum results in atrial septal defects of varying size; defects of at least 3 mm in diameter appear to confer postnatal benefit.

Ex utero intrapartum treatment with extracorporeal membrane oxygenation for severe congenital diaphragmatic hernia.

PURPOSE: The purpose of this study was to determine whether ex utero intrapartum treatment with extracorporeal membrane oxygenation (EXIT to ECMO) is a reasonable approach for managing patients antenatally diagnosed with severe congenital diaphragmatic hernia (CDH). METHODS: A 6-year retrospective review was performed on fetuses with severe CDH (liver herniation and a lung/head ratio <1.4, percentage of predicted lung volume <15, and/or congenital heart disease). Fourteen of the patients underwent EXIT with a trial of ventilation. Fetuses with poor preductal oxygen saturations despite mechanical ventilation received ECMO before their delivery. Maternal-fetal outcomes were analyzed. RESULTS: There were no maternal-reported complications. Three babies passed the ventilation trial and survived, but 2 of them required ECMO within 48 hours. The remaining 11 fetuses received ECMO before their delivery. Overall survival after EXIT-to-ECMO was 64%. At 1-year follow-up, all survivors had weaned off supplemental oxygen, but 57% required diuretics and/or bronchodilators. CONCLUSION: This is the largest reported experience using EXIT to ECMO in the management of severe CDH. The EXIT-to-ECMO procedure is associated with favorable survival rates and acceptable pulmonary morbidity in fetuses expected to have a poor prognosis under conventional management.

Ad libitum feeding decreases hospital stay for neonates after pyloromyotomy.

PURPOSE: The optimal feeding regimen for neonates after pyloromyotomy for hypertrophic pyloric stenosis (HPS) remains controversial. This study sought to compare ad libitum feeding to a Conventional feeding regimen with regard to time to full diet, length of hospital stay, and readmission rates. METHODS: A 6-month review of 36 consecutive patients who underwent pyloromyotomy for HPS was undertaken. Patients were fed in 1 of 2 ways according to specific surgeon preference. Conventional Regimen patients (n = 19) were kept nothing by mouth (NPO) for 6 hours after surgery and incrementally advanced to full feedings. ad libitum (n = 17) patients were kept NPO until fully reversed from anesthesia and then given full strength formula or breast milk. Discharge was considered when 2 feedings of 60 mL were tolerated. RESULTS: Twenty-eight males and 8 females with a mean age of 5.0 plus minus 1.7 (SD) weeks, gestational age of 39 plus minus 2.1 weeks, weight of 4.0 plus minus 0.9 kg, and operating time of 56 plus minus 12 minutes were studied. The interval from operating room to full diet was significantly less with ad libitum feeding than on the conventional regimen (20.3 plus minus 5.0 v. 25.4 plus minus 8.3 hours, P <.05). The Ad Libitum group also had a significantly decreased length of hospital stay (28.5 plus minus 8.9 hours v. 35.8 plus minus 11 hours; P <.05). There were no readmissions in either group. CONCLUSIONS: Ad libitum feedings decrease time to full diet and discharge without an increase in readmission rates. The estimated potential savings per patient using ad libitum feedings were $392.00. Thus, the use of ad libitum feedings after pyloromyotomy for HPS appears indicated.