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Purpose: Prenatal risk assessment of congenital diaphragmatic hernia (CDH) relies on prenatal ultrasound (U/S) and fetal magnetic resonance imaging (MRI). When the modalities differ in prognosis, it is unclear which is more reliable., Methods: Retrospective chart review identified cases of prenatally diagnosed CDH from 4/2010-6/2018 meeting inclusion criteria. Demographic, radiologic, and postnatal outcomes data were collected. Ultrasound- versus MRI-based prognosis (mild, moderate, and severe) was compared with clinical outcomes. Kappa measures compared congruency in disease severity scaling between imaging modalities, while logistic regression and receiver operating characteristics curves compared the ability of each modality to predict outcomes., Results: Forty-two patients met criteria. Both U/S- and MRI-based prognosis categories differentiated for survival. MRI categories differentiated for ECMO use, surgical repair, and defect type. O/e TFLV better discriminated for survivors and defect type than o/e LHR. Seventeen (40.5%) had discordant prenatal prognostic categories. In 13/17 (76.5%), o/e TFLV predicted higher severity when compared to o/e LHR, but sample size was insufficient to compare accuracy in cases of discordance., Conclusions: Clinical outcomes suggest fetal MRI may more accurately predict severe pulmonary hypoplasia compared to prenatal ultrasound. Our analysis suggests fetal MRI is a valuable adjunct in the prenatal evaluation of CDH., Level of Evidence: Level III., Type of Study: Retrospective Review., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Background: Congenital diaphragmatic hernia (CDH) is a potentially lethal birth defect, and identifying prenatal predictors of outcome is important. Observed-to-expected total fetal lung volume (o/e TFLV) has been shown to be a predictor of severity and useful in risk stratification but is variable due to different TFLV formulas., Objectives: To calculate o/e TFLV for CDH patients part of a twin gestation using the unaffected sibling as an internal control and comparing these values to those calculated using published formulas for TFLV., Methods: Seven twin gestations with one fetus affected by CDH were identified between 2006 and 2017. The lung volume for each twin was calculated using magnetic resonance imaging (MRI), and o/e TFLV was calculated using the unaffected twin's TFLV. This percentage was then compared to the o/e TFLV calculated using published formulas., Results: Lung volumes in the unaffected twins were within normal ranges at the lower end of the spectrum. No single TFLV formula was found to correlate perfectly. Intraclass correlation coefficient estimate was most consistent for o/e TFLV calculated with the Meyers formula and supported by Bland-Altman plots., Conclusions: O/e TFLV measured in CDH/non-CDH twin gestations using the unaffected sibling demonstrated agreement with o/e TFLV calculated using the Meyers formula. We urge the fetal community to standardize the method, use, and interpretation of fetal MRI in the prenatal evaluation of CDH., (© 2019 S. Karger AG, Basel.)

Background: Advances in prenatal imaging is increasing detection of abnormally dilated bowel. There is no literature to date defining the criteria for a dilated rectum or its association with postnatal pathology. The aim of this study is to investigate the clinical significance of a prenatally identified dilated rectum., Methods: A retrospective review was performed of all cases of "dilated bowel" on prenatal ultrasound between January 2000 and December 2017 at a single institution. We excluded ventral wall defects from review and sought to include only cases of a prominent or dilated rectum. Collected data included prenatal bowel measurements, postnatal diagnoses, need for surgical intervention, and outcomes. Descriptive statistics were applied., Results: One hundred and ninety-three cases of prenatal "dilated bowel" were identified in which 12 (6.2%) had specifically visualized a prominent or dilated rectum. Nine of these (75.0%) had no rectal or intestinal abnormality on postnatal evaluation and were discharged feeding and defecating normally. The remaining three cases exhibited clinical pathology necessitating additional management: (1) meconium plug, (2) jejunal atresia with cecal perforation, and (3) rectal perforation with retroperitoneal abscess. All three had rectal biopsies with identification of ganglionated submucosa., Conclusions: Although a prenatal dilated rectum is a normal variant in the vast majority of cases, it may be associated with a gastrointestinal abnormality requiring surgical intervention. Interestingly, there were no cases of Hirschsprung's disease or anorectal malformations in this cohort. These results, in conjunction with continued efforts to identify and define rectal dilation, are useful for prenatal counseling and postnatal evaluation., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Background: Primary hydrothorax is a congenital anomaly affecting 1 in 10,000-15,000 pregnancies. The natural history of this condition is variable with some fetuses having spontaneous resolution and others showing progression. The associated pulmonary hypoplasia leads to increased perinatal morbidity and mortality. Optimal prenatal intervention remains controversial., Methods: After obtaining the Institutional Review Board approval, a retrospective review of all patients evaluated for a fetal pleural effusion in the Fetal Diagnosis and Treatment Center at The University of Michigan, between 2006 and 2016 was performed. Cases with secondary etiologies for an effusion or when families decided to pursue elective termination were excluded., Results: Pleural effusions were identified in 175 patients. Primary hydrothorax was diagnosed in 15 patients (8%). The effusions were bilateral in 13/15 cases (86%) and 10/15 (66%) had hydrops at presentation. All 15 patients with primary hydrothorax underwent prenatal intervention. Thoracentesis was performed in 14/15 cases (93%). Shunt placement was performed in 10/15 cases (66%). Shunt migration was seen in four patients (40%) and all of these underwent prenatal shunt replacement. Overall survival was 76%. The rates of prematurity and preterm premature rupture of membranes were 69% and 35%, respectively., Conclusions: Fetal intervention for the treatment of primary hydrothorax is effective, and it appears to confer a survival advantage. Both the fetuses and the mothers tolerated the procedures well. Preterm labor and preterm premature rupture of membranes remain an unsolved problem. Further studies are needed to understand the mechanisms behind the development of fetal hydrothorax., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Sacrococcygeal teratoma (SCT) with intraspinal extension is rare. There is a risk of paraplegia associated with prolonged spinal cord compression. We present the case of an infant with a prenatal diagnosis of an SCT with a large intraspinal component that was causing compression of the lower spinal cord. Ultrasound at 33 weeks showed bilateral lower extremity and foot movement without hydrops or cardiac failure. Multidisciplinary decision was made to administer betamethasone and proceed with Cesarean delivery at 34 weeks. A vigorous live-born female was delivered and a multilevel laminectomy was performed at day of life 4. The pelvic resection was performed at 4 months. Pathology revealed mature teratoma. She had an uncomplicated postoperative course, is ambulatory, continent of stool, and has no evidence of recurrence. We conclude that intraspinal extension of SCT should be evaluated prenatally with ultrasound and fetal MRI. If there is concern for spinal cord compression, early delivery and urgent decompressive laminectomy may diminish the neurologic sequelae of prolonged spinal cord compression. Since these cases are rare, risks of prematurity need to be weighed against the neurologic risks. These infants should be treated with a multidisciplinary approach., (© 2017 S. Karger AG, Basel.)

Purpose: This study sought to evaluate prenatal markers' ability to predict severe congenital diaphragmatic hernia(CDH) and assess this subgroup's morbidity and mortality., Methods: A retrospective review was performed between 2006 and 2014. Prenatal criteria for severe CDH included: liver herniation, lung-to-head ratio (LHR) <1 on prenatal ultrasound and/or observed-to-expected LHR (o/eLHR) <25%, and/or observed-to-expected total lung volume (o/eTLV) <25% on fetal MRI. Postnatal characteristics included: mortality, ECMO utilization, patch closure, persistent suprasystemic pulmonary hypertension (PHtn), O2 requirement at discharge, and few ventilator-free days in the first 60. Statistics performed used unpaired t-test, p<0.05 significant., Results: Overall, 47.5%(29/61) of patients with prenatally diagnosed, isolated CDH met severe criteria. Mean LHR: 1.04±0.35, o/eLHR: 31±10% and o/eTLV: 20±7%. Distribution was 72% LCDH, 24% R-CDH. Overall survival: 38%. ECMO requirement: 92%. Patch rate: 91%. Mean ventilator-free days in 60: 7.1±14. Supplemental oxygen at discharge was required in 27%. In this prenatally diagnosed severe cohort, 58%(15/26) had persistent PHtn post-ECMO requiring inhaled nitric oxide±epoprostenol. Comparing patients with and without PHtn: mean ECMO duration 18±10 days versus 9±7 days (p=0.01) and survival 20% versus 72% (p=0.006)., Conclusion: A combination of prenatal markers accurately identified severe CDH patients. Outcomes of this group remain poor and persistent PHtn contributes significantly to mortality., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Background: Mechanical transduction has been shown to promote fetal lung growth. We examined the safety and efficacy of perflubron-induced lung growth (PILG) in neonates with congenital diaphragmatic hernia (CDH) requiring extracorporeal membrane oxygenation (ECMO)., Methods: Infants with left-sided CDH requiring ECMO were eligible. Exclusion criteria included active air leak, intracranial hemorrhage, major congenital anomalies, and oxygenation index >25 for 24hours. Perflubron was instilled endotracheally and continuous positive airway pressure was applied without ventilation. Survival to discharge was the primary outcome. Daily chest radiographs were used to quantify lung size (the secondary outcome). Midway through the study our institutional practice shifted toward earlier repair of CDH., Results: Eight infants were randomized to each arm. In the conventional-ventilation arm, six survived to discharge (75%). In the perflubron arm, four survived (50%); the others succumbed to suprasystemic pulmonary hypertension. No adverse events related to perflubron occurred. Within the perflubron group, 4/8 patients had "late repair" (15-19days of life [DOL]) and 4 had "early repair" (2-3 DOL). "Early repair" patients had similar total lung growth, but accelerated growth and shorter ECMO runs., Conclusion: PILG is safe in CDH and doubles the total lung size on average (accelerated with early repair). Despite amelioration of pulmonary hypoplasia with PILG, pulmonary hypertension persists., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Purpose: A major determinant of survival in patients with congenital diaphragmatic hernia (CDH) is severity of pulmonary hypoplasia. This study addresses the comparative effectiveness of prenatal methods of lung assessment in predicting mortality, extracorporeal membrane oxygenation (ECMO), and ventilator dependency., Methods: We retrospectively reviewed all patients born with isolated CDH between 2004 and 2008. Lung-to-head ratio (LHR) and observed-to-expected LHR (OELHR) were obtained from prenatal ultrasounds. Percent-predicted lung volume (PPLV) was obtained from fetal MRI (fMRI). Postnatal data included in-hospital mortality, need for ECMO, and ventilator dependency at day-of-life 30., Results: Thirty-seven patients underwent 81 prenatal ultrasounds, while 26 of this sub-cohort underwent fMRI. Gestational age during imaging study was associated with LHR (p=0.02), but not OELHR (p=0.12) or PPLV (p=0.72). PPLV, min-LHR, and min-OELHR were each associated with mortality (p=0.03, p=0.02, p=0.01), ECMO (p<0.01, p<0.01, p=0.03), and ventilator dependency (p<0.01, p<0.01, p=0.02). For each outcome, PPLV was a more discriminative measure, based on Akaike's information criterion. Using longitudinal analysis techniques for patients with multiple ultrasounds, OELHR remained associated with mortality (p=0.04), ECMO (p=0.03), and ventilator dependency (p=0.02), while LHR was associated with ECMO (p=0.01) and ventilator dependency (p=0.02) but not mortality (p=0.06)., Conclusion: When assessing fetuses with CDH, OELHR and PPLV may be most helpful for counseling regarding postnatal outcomes., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Objectives: Medical dictionaries and anthropologic sources define brachycephaly as a cranial index (CI = width divided by length x 100%) greater than 81%. We examine the impact of supine sleeping on CI and compare orthotic treatment with repositioning., Study Design: We compared the effect of repositioning versus helmet therapy on CI in 193 infants referred for abnormal head shape., Results: Eighty percent of the infants had a pretreatment CI > 81%. Their initial mean CI at mean age 5.3 months was 89%, and after treatment, their mean CI was 87% (+/-2 SE = 0.9%) at mean age 9.0 months. For 92 infants with an initial CI at or above 90%, their initial mean CI of 96.1% was reduced to a mean of 91.9%., Conclusions: Post-treatment CI was 86% to 88%, CI in neonates delivered by cesarean section was 80%, and CI in supine-sleeping Asian children was 85% to 91%, versus 78% to 83% for prone-sleeping American children. Repositioning was less effective than cranial orthotic therapy in correcting severe brachycephaly. We recommend varying the head position when putting infants to sleep.

Mosaic trisomy 7 is a rare condition that can be seen in individuals with Blaschkolinear skin pigmentary variation, somatic asymmetry, and variable other clinical anomalies. In any patient presenting with Blaschkolinear skin pigmentary variation, varying degrees of asymmetrical growth disturbance, developmental delay, and a normal lymphocytic karyotype, chromosomal mosaicism may be present. To rule out tissue-specific or occult chromosomal mosaicism, it is recommended to culture and karyotype skin fibroblasts, since lymphocyte cell lines may not demonstrate the abnormal cell line. Early diagnosis is of paramount importance, since early physical, occupational, and speech/language therapy can greatly improve the developmental outcome of these patients. We report on a fourth patient with trisomy 7 mosaicism in whom early diagnosis and developmental therapy contributed to an improved developmental outcome when compared with patients in previous reports. Early intervention can greatly benefit patients with this diagnosis, especially in minimizing the aggressive behavior associated with communication difficulties. Our patient has milder manifestations than the previously reported patients with no seizure activity or asymmetry and fewer cells with trisomy 7., (Copyright 2000 Wiley-Liss, Inc.)