Fetal MRI-calculated total lung volumes in the prediction of short-term outcome in giant omphalocele: preliminary findings.

OBJECTIVE: To determine the value of fetal MRI-calculated total lung volumes (TLV) in the prediction of short-term outcome in patients with giant omphalocele (GO). MATERIAL AND METHODS: We reviewed all cases of GO undergoing fetal MRI after 21 weeks' gestation and receiving postnatal care at our institution between 2003 and 2010. Observed/expected (O/E) TLV was calculated using age-matched TLV normograms [Radiology 2001;219:236-241]. Postnatal outcomes were stratified based on O/E TLV above or below 50% of expected. RESULTS: Seventeen GO cases fulfilled the entry criteria. The mean age at fetal MRI evaluation was 25.8 ± 4.8 weeks' gestation. The mean GO TLV (21.0 ± 13.2) was lower than age-matched population norms (p < 0.001), resulting in a mean O/E TLV of 52.3 ± 16.8%. The mean gestational age at delivery was 36.8 ± 1.6 weeks. Overall survival was 94%. Fourteen (88%) infants underwent staged reduction, and 2 underwent silver sulfadiazine treatment and delayed repair. Infants with ≤50% of predicted O/E TLV (n = 11, 65%) had lower Apgar scores at birth (p = 0.03), prolonged ventilatory support (p = 0.004), delayed oral intake (p = 0.03), and longer hospitalization (p = 0.03) compared to patients with ≥50% of expected O/E TLV. Two infants (both O/E TLV <50%) required tracheostomy placement. CONCLUSION: In the assessment of GO fetuses, MRI-based O/E TLV of <50% was predictive of increased postnatal morbidity.

Early neurodevelopmental outcome of infants with high-risk fetal lung lesions.

OBJECTIVE: To evaluate the neurodevelopmental outcome of infants with high-risk fetal lung lesions defined as (1) requiring fetal intervention and/or ex utero intrapartum therapy (EXIT), or (2) acute respiratory decompensation postnatally necessitating emergent resection within 48 h of life. METHODS: We reviewed the medical records of 13 consecutive patients with high-risk fetal lung lesions who were enrolled in our prospective interdisciplinary follow-up program. Neurodevelopmental status was evaluated using the Bayley Scales of Infant Development-III (children ≤3 years, n = 12), or the Wechsler Preschool and Primary Scale of Intelligence-III (children ≥4 years, n = 1). RESULTS: Eight children (62%) underwent prenatal intervention (EXIT, n = 6; fetal resection, n = 1; intrauterine shunt placement, n = 1), and 5 (38%) required emergent resection postnatally. Median age at evaluation was 25 months (range: 5-80). Average scores for cognitive development were found in all children assessed under 3 years of age. The one child who was tested for cognitive ability at 6 years of age scored in the borderline range of intellectual functioning. For language outcome, 15% scored above average, 54% scored within the average range, and 31% had mild deficits. Overall, 77% scored within the average range for neuromotor outcome, while 23% scored within the mildly delayed range. None of the children had severe delays. Cognitive, language, and psychomotor scores were similar between both groups. Hypotonicity was found in 23%. Autism was suspected in one child who underwent an EXIT procedure and was postnatally diagnosed with mosaic trisomy 18. CONCLUSION: The majority of children with high-risk fetal lung lesions have age-appropriate neurodevelopmental scores.

Assessment of early pulmonary function abnormalities in giant omphalocele survivors.

PURPOSE: Infants with giant omphalocele (GO) are at increased risk for persistent respiratory insufficiency, yet information regarding the systematic assessment of their lung function is limited. We performed a group of pulmonary function tests (PFTs) including spirometry, fractional lung volume measurements, assessment of bronchodilator responsiveness, and passive respiratory mechanics in GO survivors during infancy and early childhood to evaluate the nature and degree of pulmonary dysfunction. MATERIAL AND METHODS: Between July 2004 and June 2008, 30 consecutive GO survivors were enrolled in our interdisciplinary follow-up program. Forty-seven percent (14/30) underwent PFT during follow-up evaluation using the raised volume rapid thoracic compression technique to measure forced expiratory flows and bronchodilator responsiveness, body plethysmography to calculate lung volumes, and the single breath occlusion technique to measure passive mechanics of the respiratory system. RESULTS: The mean age at PFT assessment was 19.3 ± 19.7 months (range, 1.0-58). Mean forced vital capacity and mean forced expiratory volume in the first 0.5 second were significantly reduced compared with published normative values (P = .03 and P < .01, respectively). Total lung capacity was significantly reduced (P < .001), whereas functional residual capacity, residual volume, and residual volume to total lung capacity ratio were within the normative range (P = .21, P = .34, and P = .48, respectively). Among the 46% who demonstrated significant bronchodilator responsiveness, there were greater increases in the mean percentage changes in flow at 25% to 75% (P = .01), flow at 75% (P < .001), and flow at 85% (P < .001) compared with those participants that did not respond. Specific compliance was reduced, whereas specific conductance increased, compared with published normal results. CONCLUSIONS: Abnormalities of pulmonary function in GO survivors include lung volume restriction without airway obstruction, an increased likelihood of airway hyperresponsivness, and reduced respiratory system specific compliance. Early recognition of pulmonary functional impairment in GO survivors could help to develop targeted treatment strategies to reduce the risk of subsequent pulmonary morbidity.

Abnormal brain development and maturation on magnetic resonance imaging in survivors of severe congenital diaphragmatic hernia.

PURPOSE: The aim of the study was to evaluate the incidence of abnormal brain maturation in survivors of severe congenital diaphragmatic hernia (CDH). MATERIAL AND METHODS: Between July 2004 and December 2009, 50 CDH survivors underwent detailed brain magnetic resonance (MR) imaging before discharge. Magnetic resonance images were analyzed to evaluate the presence of structural brain abnormalities and to calculate overall brain maturation using the total maturation score (TMS). RESULTS: Thirty-two children (64%) underwent MR imaging between 39 and 43 weeks of gestation, allowing for evaluation of the TMS. Eighteen (36%) underwent MR imaging between 44 and 69 weeks of gestation, allowing for structural analysis of brain maturity only. The mean TMS was 14.1 ± 1.2 and significantly lower than reported age-matched normative data in infants without CDH (15.3 ± 1.0, P = .02). The TMS in 4 patients (12.5%) corresponded to a delay of 1 month in structural brain development. Eight infants (25%) demonstrated a 2-week delay. Periventricular leukomalacia was detected in 9 (18%), incomplete development of the opercula in 7 (14%), various degrees of intracranial hemorrhage in 24 (48%), and prominent extraaxial fluid spaces in 20 (40%) cases. CONCLUSIONS: Brain maturation in infants with severe CDH appears to be delayed. Long-term neurodevelopmental follow-up is needed to determine the significance of a lower-than-expected TMS and the presence of structural brain abnormalities on functional outcomes in this population.

Prospective, interdisciplinary follow-up of children with prenatally diagnosed giant omphalocele: short-term neurodevelopmental outcome.

PURPOSE: The objective of this study is to determine the short-term neurodevelopmental outcome in infants with giant omphalocele (GO). MATERIALS AND METHODS: Between January 2002 and December 2007, 31 consecutive infants with GO received prenatal and postnatal care at our institution. Overall survival was 81% (25/31). Twenty (80%) of the survivors were enrolled in a prospective interdisciplinary follow-up program. Fifteen were at least 6 months of age and received detailed neurodevelopmental evaluation using the Bayley Scales of Infant Development II (BSID-II [before 2006, n = 3]) or BSID-III (after 2006, n = 12). Scores were grouped as average, mildly delayed, and severely delayed by SD intervals (115-85, 71-84, <70). Scores were considered mixed if cognitive or language skills were in different ranges. RESULTS: Median age at evaluation was 12 months (range, 6-26 months). Average, mildly delayed, and severely delayed scores for cognitive and language skills were found in 6 (40%), 2 (13%), and 6 (40%), respectively. One child had mixed scores (severely delayed for cognitive and mildly delayed for language skills). Motor scores were normal, mildly delayed, and severely delayed in 6 (40%), 2 (13%), and 7 (47%), respectively. The neuromuscular examination was abnormal in 8 patients (62%). Five (33%) scored within the average range, whereas 6 (40%) demonstrated severe delays for cognitive, language, and motor outcome. Of the 6 children with severe delays, 2 (13% of total) have autism, 4 required tracheostomy, and 1 was diagnosed with Williams syndrome. CONCLUSIONS: The presence of GO is associated with deficits in developmental achievements in most of the affected infants ranging from mild to profound delays. These findings underscore the importance of early and standardized neurodevelopmental evaluation throughout childhood for all survivors with GO. Larger studies are warranted for risk factor stratification.

Neurodevelopmental outcome of infants with congenital diaphragmatic hernia prospectively enrolled in an interdisciplinary follow-up program.

PURPOSE: The purpose of the study was to evaluate the neurodevelopmental outcome in infants with congenital diaphragmatic hernia (CDH). METHODS: Between June 2004 and September 2007, 41 CDH survivors were prospectively enrolled in an interdisciplinary follow-up program. Neurodevelopmental status was evaluated using the Bayley Scales of Infant Development II (prior 2006, n = 9), the Bayley Scales of Infant Development III (after 2006, n = 27), or the Wechsler Preschool and Primary Scale of Intelligence III (children older than 4 years, n = 5). Scores were grouped as average, mildly delayed, and severely delayed by standard deviation intervals (115-85, 71-84, <70), and mixed if average and mildly delayed in either cognitive or language. RESULTS: Median age at last assessment was 24 months (range, 6-62). Average, mixed, mildly delayed, and severely delayed scores for neurocognitive and language skills were found in 49%, 19%, 17%, and 15%, respectively. Psychomotor scores were normal, mildly delayed, and severely delayed in 46%, 23%, and 31%, respectively. Autism was present in 7%. Abnormal muscle tonicity was found in 51% (49% hypotonic, 2% hypertonic). Multivariate risk factors for borderline or delayed neurodevelopmental, neurocognitive, and/or psychomotor outcome were intrathoracic liver position (P = .02), presence of a right-sided CDH (P = .02), extracorporeal membrane oxygenation need (P < .001), Gore-Tex patch repair (P = .02), O(2) requirement at 30 days of life (P < .01), and hypotonicity (P < .01). CONCLUSIONS: The prospective evaluation in an interdisciplinary follow-up program uncovered striking morbidities in neurodevelopmental status in approximately half of the CDH infants. The most common neurologic sequelae are neuromuscular hypotonicity and psychomotor dysfunction. Patient-specific factors are important determinants of adverse neurologic outcome.