R. Douglas Wilson

Cystic adenomatoid malformation of the lung: Review of genetics, prenatal diagnosis, and in utero treatment

Prenatal identification of lung abnormalities has increased with prenatal surveillance. Treatment usually requires serial ultrasound observation but in rare situations in utero therapy may be required for fetal survival. We review the genetics, prenatal evaluation, and treatment of lung abnormalities with congenital cystic adenomatoid malformation (CCAM). Other lung lesions, bronchopulmonary sequestration (BPS), hybrid lesions involving both malformations, congenital lobar emphysema (CLE), are briefly included as differential diagnosis options. Outcome of fetuses identified to have CCAM lung abnormalities resulting in fetal hydrops and having in utero therapy (thoracoamniotic shunting, fetal thoracotomy, EXIT delivery) are discussed. In the appropriate situation, this maternal fetal surgery approach for CCAM is life‐saving for the affected fetus with acceptable maternal morbidity risks in the present and future pregnancies.

Congenital Abdominal Wall Defects: An Update

Objective: To review published peer-reviewed literature regarding abdominal wall defects including gastroschisis and omphalocele. Methods: Review of published peer-reviewed literature using Med Line 1985–2003 and textbooks. Results: Gastroschisis and omphalocele literature is reviewed using pathology, incidence and epidemiology, prenatal evaluation, pregnancy and delivery management, postnatal outcome and fetal therapy. Conclusion: Gastroschisis and omphalocele are common abdominal wall defects and have significant morbidity and mortality.

Effect of Maternal Betamethasone Administration on Prenatal Congenital Cystic Adenomatoid Malformation Growth and Fetal Survival

Objective: To evaluate the effect of prenatal steroid treatment on the growth of congenital cystic adenomatoid malformations (CCAM) and survival in affected fetuses not amenable to other percutaneous ultrasound-guided prenatal interventions. Methods: A retrospective review of patients with a CCAM or hybrid lesion treated with two maternal prenatal betamethasone injections was performed. Patients receiving cyst aspiration or thoracoamniotic shunting at the time of or after steroid administration were excluded. Growth rates and survival data were compared to historical non-steroid treated controls. Results: Eleven patients were treated with prenatal steroids (10 microcystic and 1 macrocystic). Survival was 100% in fetuses with hydrops (5/5) or a CCAM volume ratio (CVR) >1.6 (7/7) at the time of steroid administration. This compares to a mortality of 100 and 56.2% respectively in historical non-treated controls. Resolution of hydrops was seen in 80% (4/5) of steroid-treated patients. CCAM growth rates were variable after steroid administration. However, when compared to historical data where CVR and CCAM volume have been documented to increase until 28 weeks’ gestation, the CVR and CCAM volume growth rates decreased in 72.73% and 50% of patients respectively from the time of steroid administration to 28 weeks’ gestation. Conclusions: In the fetus with a CCAM, the presence of hydrops fetalis or a CVR >1.6 is indicative of poor fetal outcome without prenatal intervention. The observed effect of antenatal steroid treatment on CCAM growth is variable, but its potential to improve survival in these high-risk groups is encouraging and warrants further controlled evaluations.

Acute Cardiovascular Effects of Fetal Surgery in the Human

Background—Prenatal surgery for congenital anomalies can prevent fetal demise or alter the course of organ development, resulting in a more favorable condition at birth. The indications for fetal surgery continue to expand, yet little is known about the acute sequelae of fetal surgery on the human cardiovascular system. Methods and Results—Echocardiography was used to evaluate the heart before, during, and early after fetal surgery for congenital anomalies, including repair of myelomeningocele (MMC, n=51), resection of intrathoracic masses (ITM, n=15), tracheal occlusion for congenital diaphragmatic hernia (CDH, n=13), and resection of sacrococcygeal teratoma (SCT, n=4). Fetuses with MMC all had normal cardiovascular systems entering into fetal surgery, whereas those with ITM, CDH, and SCT all exhibited secondary cardiovascular sequelae of the anomaly present. At fetal surgery, heart rate increased acutely, and combined cardiac output diminished at the time of fetal incision for all groups including those with MMC, which suggests diminished stroke volume. Ventricular dysfunction and valvular dysfunction were identified in all groups, as was acute constriction of the ductus arteriosus. Fetuses with ITM and SCT had the most significant changes at surgery. Conclusions—Acute cardiovascular changes take place during fetal surgery that are likely a consequence of the physiology of the anomaly and the general effects of surgical stress, tocolytic agents, and anesthesia. Echocardiographic monitoring during fetal surgery is an important adjunct in the management of these patients.

Outcomes after postnatal resection of prenatally diagnosed asymptomatic cystic lung lesions

BACKGROUND Symptomatic congenital lung lesions require surgical resection, but the management of asymptomatic lung lesions is controversial. Some surgeons advocate observation because of concerns about potential operative morbidity and mortality, as well as a lack of long-term follow-up information. On the other hand, malignant degeneration, pneumonia, and pneumothorax are known consequences of cystic lung lesions. This study aims to assess the safety of resection for asymptomatic lung lesions that were diagnosed before birth. METHODS A retrospective review of all patients with prenatally diagnosed lung lesions at Childrens Hospital of Philadelphia (Philadelphia, Penn) was performed from 1996 to 2005. The perioperative course of patients who were asymptomatic was analyzed. RESULTS One hundred five complete records of children with asymptomatic lesions were reviewed. Overall mortality was 0% and morbidity was 6.7% including 2.9% significant postoperative air leak and 3.8% transfusion requirement. Nine patients had a pathologic diagnosis that differed from preoperative radiological findings, and 9 patients had additional pathologic findings. CONCLUSION This series demonstrates that surgery can be performed safely on patients who were asymptomatic with congenital cystic adenomatoid malformation of the lung and other types of lung lesions with no mortality and minimal morbidity. The frequency of disparate pathologic diagnoses and the potential for development of malignancy and other complications support the argument for early resection.

Lower Extremity Neuromotor Function and Short-Term Ambulatory Potential following in utero Myelomeningocele Surgery

Objective: To evaluate lower extremity neuromotor function (LENF) and short-term ambulatory potential following fetal myelomeningocele (fMMC) closure. Methods: Retrospective chart review of 54 children that underwent fMMC closure at our institution prior to the NIHCD-MOMS trial. Neonatal LENF was compared to predicted function based on spinal lesion level assigned by prenatal ultrasound. Ambulatory status was classified as independent walkers (walks without assistive appliances), assisted walker (requires walking aid), and non-ambulatory (wheelchair bound). Results: Thoracic, lumbar, and sacral level lesions were present in 4, 44 and 6 fMMC infants, respectively. 31/54 of fMMC children (57.4%; median: 2 levels, range: 1–5) had better than predicted, 13/54 (24.1%) same as predicted and 10/54 (18.5%; median: 1 level, range: 1–2) worse than predicted LENF at birth. At a median follow-up age of 66 months (36–113), 37/54 (69%) walk independently, 13/54 (24%) are assisted walkers, and 4/54 (7%) are wheelchair dependent. The strongest factors predicting a lower likelihood to walk independently were higher-level lesion (>L4, p = 0.001) and the development of clubfoot deformity after fetal intervention (p = 0.026). Despite the observed improved ambulatory status, structured evaluation of coordinative skills revealed that the majority of independent ambulators and all children that require assistive devices to walk experience significant deficits in lower extremity coordination. Conclusions: We observed that fMMC surgery in this highly selective population results in better than predicted LENF at birth and short-term ambulatory status. However, fMMC toddlers continue to demonstrate deficits in movement coordination that are characteristic for children with spina bifida.

Sacrococcygeal Teratomas: Prenatal Surveillance, Growth and Pregnancy Outcome

Objective: Prenatal surveillance and growth characteristics are evaluated in a cohort of fetuses with sacrococcygeal teratomas (SCT) as part of risk assessment. Methods: Retrospective review of 23 fetuses with SCT: prenatal diagnosis, surveillance, delivery, and early postnatal outcome are reported. Results: Cardiac output failure physiology requires serial evaluation. The size of the SCT determines obstetrical risks and mode of delivery. An SCT growth rate approaching >150 cm3 per week may be associated with increased perinatal mortality risks. Maternal morbidity is related mainly to polyhydramnios and preterm labor. Conclusions: Perinatal mortality is approximately 43%. Maternal-fetal surgery for fetal physiologic deterioration is not frequent, but serial surveillance is required to minimize fetal morbidity/mortality and maternal morbidity. Rapid SCT growth rates may be associated with increased risk of perinatal mortality.

Congenital high airway obstruction syndrome: MR/US findings, effect on management, and outcome

BackgroundCongenital high airway obstruction syndrome (CHAOS) is a rare disorder defined as any fetal abnormality that obstructs the larynx or trachea. Prompt airway intervention at delivery after accurate prenatal diagnosis may allow survival of this otherwise fatal condition.ObjectiveTo identify prenatal MRI findings in CHAOS, to compare these findings with those of fetal US, to determine if imaging alters diagnosis and management decisions, and to correlate prenatal with postnatal imaging findings.Materials and methodsRecords and MRI scans of ten fetuses with CHAOS were reviewed, and the findings correlated with outside and same-day fetal US and postnatal imaging findings. Fetal lung volumes were measured on MRI scans.ResultsLarge lung volumes were found in 90% of the fetuses. Increased lung signal intensity, inverted diaphragm, and a dilated, fluid-filled lower airway were identified in all. The obstruction level was identified in 90%. MRI changed screening US diagnosis in 70%, but was concordant with the tertiary care US imaging in 90%. Seven fetuses were terminated or died in utero, and three fetuses survived after ex utero intrapartum tracheostomy placement. Autopsy or bronchoscopy performed in 60% confirmed CHAOS. Postnatal chest radiographs and CT showed hyperinflation, while US and fluoroscopy showed diminished diaphragmatic motion.ConclusionMRI demonstrates large lung volumes, increased lung signal intensity, inverted diaphragm, and dilated fluid-filled lower airway, and usually identifies the obstruction level. The degree of correlation between MRI and tertiary prenatal US is high, but CHAOS is frequently misdiagnosed on screening US. Correct diagnosis may enable planned airway management. Voluminous lungs and diaphragmatic abnormalities persist on postnatal imaging.

In utero limb salvage: fetoscopic release of amniotic bands for threatened limb amputation

The natural history of extremity amniotic band syndrome (ABS) is a progression to deformity or amputation. Fetoscopic laser release of amniotic bands in extremity ABS offers the potential to prevent limb amputation. The authors report on 2 patients with isolated extremity ABS who underwent fetoscopic release. Both patients had isolated extremity ABS with compromised extremity perfusion and no other significant structural abnormality diagnosed sonographically. The first patient underwent fetoscopic release of bands of the left wrist, and the second patient underwent lysis of bands around the right wrist and an unsuspected band around the right lower extremity. Both patients had restoration of blood flow by color Doppler to the affected extremity. There were no perioperative complications. In select patients with isolated extremity ABS, early fetoscopic release may prevent amputation and allow improved limb development.

Prenatal and postnatal management of omphalocele

Omphalocele is one of the most common abdominal wall defects seen in the prenatal period. Once this diagnosis is confirmed, it is important to check the fetal karyotype and thoroughly assess the fetus for other malformations. Prenatal management involves serial assessment of fetal growth and prenatal testing to ensure fetal well‐being. Closure of the abdominal wall and replacement of organs into the abdominal cavity can be done directly if the omphalocele is small or in a staged manner if the omphalocele is large. Successful outcomes for these neonates can be optimized with a multidisciplinary team approach to prenatal and postnatal management. Copyright