Juan Martinez-Poyer

Fetal Myelomeningocele Repair: The Post-MOMS Experience at the Children's Hospital of Philadelphia

Background: Fetal myelomeningocele (fMMC) repair has become accepted as a standard of care option in selected circumstances. We reviewed our outcomes for fMMC repair from referral and evaluation through surgery, delivery and neonatal discharge. Material and Methods: All patients referred for potential fMMC repair were reviewed from January 1, 2011 through March 7, 2014. Maternal and neonatal data were collected on the 100 patients who underwent surgery. Results: 29% of those evaluated met the criteria and underwent fMMC repair (100 cases). The average gestational age was 21.9 weeks at evaluation and 23.4 weeks at fMMC repair. Complications included membrane separation (22.9%), preterm premature rupture of membranes (32.3%) and preterm labor (37.5%). Average gestational age at delivery was 34.3 weeks and 54.2% delivered at ≥35 weeks. The perinatal loss rate was 6.1% (2 intrauterine fetal demises and 4 neonatal demises); 90.8% of women delivered at the Childrens Hospital of Philadelphia and 3.4% received transfusions. With regard to the neonates, 2 received ventriculoperitoneal shunts prior to discharge; 71.1% of neonates had no evidence of hindbrain herniation on MRI. Of the 80 neonates evaluated, 55% were assigned a functional level of one or more better than the prenatal anatomic level. Conclusion: In an experienced program, maternal and neonatal outcomes for patients undergoing fMMC repair are comparable to results of the MOMS trial.

Thoracoamniotic shunts for the management of fetal lung lesions and pleural effusions: a single-institution review and predictors of survival in 75 cases

PURPOSE Hydrops and pulmonary hypoplasia are associated with significant morbidity and mortality in the setting of a congenital lung lesion or pleural effusion (PE). We reviewed our experience using in utero thoracoamniotic shunts (TA) to manage fetuses with these diagnoses. METHODS A retrospective review of fetuses diagnosed with a congenital lung lesion or pleural effusion who underwent TA shunt placement from 1998-2013 was performed. RESULTS Ninety-seven shunts were placed in 75 fetuses. Average gestational age (±SD) at shunt placement and birth was 25±3 and 34±5 weeks. Shunt placement resulted in a 55±21% decrease in macrocystic lung lesion volume and complete or partial drainage of the PE in 29% and 71% of fetuses. 69% of fetuses presented with hydrops, which resolved following shunt placement in 83%. Survival was 68%, which correlated with GA at birth, % reduction in lesion size, unilateral pleural effusions, and hydrops resolution. Surviving infants had prolonged NICU courses and often required either surgical resection or tube thoracostomy in the perinatal period. CONCLUSION TA shunts provide a therapeutic option for select fetuses with large macrocystic lung lesions or PEs at risk for hydrops and/or pulmonary hypoplasia. Survival following shunting depends on GA at birth, reduction in mass size, and hydrops resolution.

Effect of single and multiple courses of maternal betamethasone on prenatal congenital lung lesion growth and fetal survival

PURPOSE Administration of maternal betamethasone (BMZ) is a therapeutic option for fetuses with large microcystic congenital lung lesions at risk for, or causing, hydrops. Not all fetuses respond to a single course of BMZ. We review our experience with the use of single and multiple courses of maternal BMZ for the management of these patients. METHODS A retrospective review of fetuses with congenital lung lesions managed with maternal BMZ from 2003 to 2014 was performed. RESULTS Forty-three patients were managed with prenatal steroids (28 single course, 15 multiple courses). Single course recipients demonstrated a reduction in lesion size and resolution of hydrops in 82% and 88% of patients respectively compared to 47% and 56% in recipients of multiple steroid courses. Survival of multiple course patients (86%) was comparable to that of single course patients (93%) and improved compared to non-treated historical controls. Multiple course recipients demonstrated an increased need for open fetal surgery and postnatal surgery at a younger age. CONCLUSION Fetuses who fail to respond to a single course of BMZ may benefit, as indicated by hydrops resolution and improved survival, from additional courses. However, failure to respond is indicative of a lesion which may require fetal or immediate neonatal resection.

The Role of Echocardiography in the Intraoperative Management of the Fetus Undergoing Myelomeningocele Repair

Introduction: Fetal surgery for myelomeningocele (MMC) results in better outcomes compared to postnatal treatment. However, risks are present. We describe our experience with intraoperative fetal echocardiography during repair of MMC and report on the management of serious cardiovascular events. Material and Methods: The subjects included fetuses with intent to repair MMC from January 2011 to February 2014. The protocol involved continuous echocardiography in a looping, sequential manner of systolic function, heart rate and tricuspid and mitral valve regurgitation. Results: A total of 101 cases intended fetal MMC repair; 100 completed surgery. Intraoperative ventricular dysfunction was present in 60% (20 mild, 25 moderate, 15 severe). Heart rate <100 bpm was noted in 11 cases. Tricuspid valve regurgitation was present in 35% (26 mild, 7 moderate, 2 severe); mitral valve regurgitation was present in 19% (15 mild, 4 moderate). Serious cardiovascular events were experienced in 7 cases, which affected the conduct of surgery and/or outcome. In 4 of these, medications were given via the umbilical vein and external cardiac compressions were performed. Fetal echocardiography was used to gauge the efficacy of compressions and to guide resuscitation. Discussion: Cardiovascular compromise is common during fetal surgery for MMC. Intraoperative fetal echocardiography is recommended as a growing number of centers contemplate offering this form of novel, but potentially risky, therapy.

Prenatal diagnosis of esophageal bronchus — first report of a rare foregut malformation in utero

AIM OF THE STUDY Esophageal bronchus is a rare bronchopulmonary foregut malformation in which an isolated portion of the respiratory system communicates with the esophagus. There are no reports of prenatal diagnosis of an esophageal bronchus in the literature. We present 5 cases of esophageal bronchus and describe unique imaging findings. METHODS Following IRB approval, 5 cases of pathologically proven esophageal bronchus were identified from a single center fetal therapy surgical database. Prenatal magnetic resonance and ultrasound studies were scored for the presence of bronchoceles, cysts, vascular feeders, and location. Five control cases were selected from a radiology database, with lesions determined to represent bronchial atresia prenatally and located at the lung bases. All imaging was reviewed blinded to outcome. MAIN RESULTS A tubular T2 hyperintense structure (bronchocele) directed from the lung lesion to the gastroesophageal junction was seen in all cases of esophageal bronchus, but in none of the control cases. In all control cases, the bronchocele was directed to the pulmonary hilum. The presence of cysts or vascular feeding vessels was not statistically significant in identifying an esophageal bronchus lesion. All patients were delivered at term and underwent surgical resection between 5 to 19 weeks of age. No postoperative complications occurred. CONCLUSION Prenatal diagnosis of an esophageal bronchus can be strongly suggested by the presence of a T2 hyperintense structure arising from a lung lesion and directed towards the GE junction. These findings may be helpful for better counseling of parents and improved surgical planning.

Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies

9q22.3 microdeletion syndrome is a well‐described contiguous deletion syndrome with features of Gorlin syndrome and other manifestations. Commonly reported findings in addition to those of Gorlin syndrome include metopic craniosynostosis, hydrocephalus, intellectual disability, and minor facial anomalies. The critical region for this condition was found to include the PTCH1 and FANCC genes; however, other genes are often deleted in affected individuals but their role in the observed phenotype is not understood. Fewer than 50 individuals with 9q22.3 microdeletion have been reported, all diagnosed postnatally on the basis of the phenotype. A confirmed prenatal diagnosis and accompanying fetal imaging has not been reported to date. We describe a patient with prenatally diagnosed 9q22.3 microdeletion syndrome following the ultrasonographic identification of trigonocephaly, macrosomia, organomegaly, ventriculomegaly, and anomalous vertebrae.