N. Adzick

Thoracoamniotic Shunts: Fetal Treatment of Pleural Effusions and Congenital Cystic Adenomatoid Malformations

Objective: To determine whether fetuses that underwent thoracoamniotic shunt placement for treatment of pleural effusion (PE) or macrocystic congenital cystic adenomatoid malformation (CCAM) have an improved outcome as compared with an untreated population. Methods: A retrospective review from a single tertiary center was performed using thoracoamniotic shunt placement to treat PE or macrocystic CCAM between 1998 and 2001. Thoracoamniotic shunts were used on 26 occasions in 19 pregnancies. Results: The average gestational age at the diagnosis of PE and CCAM was 22 + 4 and 20 + 0 weeks, respectively. Shunts were offered in pregnancies complicated by hydrops or at significant risk for pulmonary hypoplasia. Shunts were placed at 26 + 2 weeks (average) and 23 + 1 weeks (average) in the PE and CCAM groups, respectively. In CCAM patients, the mean pre- and postshunting mass volumes were 50.5 and 25.7 cm3, representing a 51% reduction in mass volume following shunt placement. In the PE group, the average delivery age was 33 + 5 weeks, with an average shunt placement to delivery time of 7 + 3 weeks. In the CCAM group, the average delivery was 33 + 3 weeks, with an average shunt placement to delivery time of 10 + 2 weeks. The postnatal survival rates were 67% (6/9) and 70% (7/10) in the PE and CCAM groups, respectively. Conclusions: (1) Thoracoamniotic shunts should be considered as a treatment option for selected PE or macrocystic CCAM fetuses with hydrops or a significant risk for pulmonary hypoplasia; (2) the neonatal survival with shunting was similar for PE and CCAM groups and was improved as compared with literature reports, and (3) fetuses with CCAM presented earlier with hydrops than those with PE. Successful shunting resulted in a prolongation of pregnancy into the 3rd trimester in both groups.

Hepatic Mesenchymal Hamartoma Associated with Mesenchymal Stem Villous Hyperplasia of the Placenta

A rare case of prenatally diagnosed hepatic mesenchymal hamartoma associated with mesenchymal stem villous hyperplasia of the placenta is presented and the literature reviewed. The placenta was noticed to have multiple cysts at 16 weeks’ gestation and elevated maternal serum α-fetoprotein was present. Cystic liver masses were first detected in the fetus at 34 weeks’ gestation. The liver mass showed a progressive enlargement during the third trimester and after birth, necessitating extended left hepatic trisegmentectomy at 3 months of age. Histological examination established the diagnosis of mesenchymal hamartoma of the liver and mesenchymal stem villous hyperplasia of the placenta. This is the first report of this association in which both lesions were diagnosed in utero and confirmed by histology after delivery. The likely pathogenesis of these strikingly similar lesions is discussed.

Prenatal Diagnosis and Management of Mainstem Bronchial Atresia

The prenatal diagnosis, natural history and management of mainstem bronchial atresia have not been described previously. We report two cases of prenatally diagnosed proximal bronchial atresia. The first patient presented at 18 weeks with sonographic and MRI findings consistent with bronchial atresia with fetal hydrops. The mother developed the mirror syndrome and labor was induced. A non-viable fetus was delivered at 25 weeks. The second patient presented at 16 weeks gestation with evidence of an intrathoracic mass that was subsequently prenatally diagnosed as a right mainstem bronchial atresia. The right lung increased rapidly in size and was associated with the onset of fetal hydrops. At 24 weeks, fetal pneumonectomy was performed but the fetus expired intraoperatively due to cardiovascular collapse. Post-mortem findings in both cases confirmed the presence of an atretic mainstem bronchus with massive enlargement of the lung. Bronchial atresia involving the mainstem bronchus is associated with a poor prognosis.

Prenatal Diagnosis and Postnatal Management of Diffuse Congenital Hyperinsulinism: A Case Report

We present the first case of the prenatal diagnosis of congenital hyperinsulinism based on the genetic analysis of known family mutations in the SUR1 gene. An amniocentesis was performed at 16 weeks gestation at which time two mutations in the SUR1 gene were identified consistent with the diagnosis of diffuse hyperinsulinism. The mother was transported to our facility and underwent an elective cesarian section at 38 weeks gestation. The diagnosis was confirmed and treatment was initiated within the first minutes of life. After a short course of failed medical management, the patient underwent a 98% pancreatectomy with subsequent good glycemic control. This case highlights the benefits of the timely in utero diagnosis of hyperinsulinism by mutational analysis.

Prenatal surgery for myelomeningocele.

Purpose of review This review summarizes outcomes of fetal surgery for myelomeningocele (MMC) as they compare to postnatal MMC repair and provides insights into areas of investigation to improve fetal MMC repair. Recent findings Recent studies confirm the findings of the Management of Myelomeningocele Study and support the decreased need for postnatal ventricular shunts, improved hindbrain herniation, and improved neurofunctional outcome following open fetal repair compared to postnatal repair at the risk of increased maternal complications and preterm birth. Larger studies of minimally invasive fetal repair demonstrate that, although technically feasible, this approach is associated with longer operative times, increased membrane complications, an earlier gestational age at birth, persistent cerebrospinal fluid leakage, and incidences of persistent postnatal hindbrain herniation resulting in death or requiring surgical decompression. Summary Open prenatal MMC repair is a new standard of care option with improved postnatal outcomes in a highly specific patient population when performed at select multidisciplinary fetal surgery centers. More investigations are required to optimize minimally invasive approaches prior to reliable clinical application.

OP28.03: The qualitative lung index (QLI): a useful new parameter or just more mathematics?

[13–38] weeks in 2005–2009). Twenty-two (22.9%) infants had associated major structural anomalies, ten (10.4%) an abnormal karyotype and 64 (66.7%) had isolated CDH. In ten (18.2%) of the 55 prenatally diagnosed cases, seven of them with severe associated malformations, termination of pregnancy was performed and there were four (4.1%) cases of intrauterine fetal death or stillbirth. Live-births were documented in 82 (85.4%) of the 96 cases and 58 (60.4%) survived the first week of life. Surgical repair was performed in 60 (73.2%) of the 82 live born babies and 55 (67.1%) of them survived at least the first postnatal week. Three cases turned out to be eventrations of the diaphragm during surgery. From the 59 live-born infants with isolated CDH 47 (78.0%) survived. In Styria, CDH occurs in three of 10,000 or one of 3,333 deliveries, respectively. On average, there are 3.8 cases of CDH in Styria per year. Conclusions: The prevalence for CDH in Styria was 3/10,000 deliveries. Detection rate and neonatal survival increased over the study period while gestational age at diagnosis decreased.

OP26.02: Comparison of ultrasound and MRI parameters in predicting survival in isolated left-sided congenital diaphragmatic hernia (CDH): what works best?

Objectives: To compare the test characteristics of both ultrasound and MRI derived parameters in predicting survival. Methods: This is a retrospective study utilizing an existing study dataset of 85 fetuses with isolated left CDH. All had detailed prenatal evaluation, prenatal care, delivery and postnatal care at one institution. Ultrasound was used to calculate lung:head ratio (LHR) and observed/expected LHR (O/E LHR) and MRI for observed/expected total lung volume (O/E TLV) and percent herniated liver (%HL). Logistic regression and ROC evaluation were performed. Test characteristics were determined for prediction of survival. A p value of 0.05 was used for statistical significance. Results: R2 values for all parameters were similar and all were statistically significant predictors of survival. ROC analysis showed ultrasound determined parameters (LHR and O/E LHR) had a similar area under the curve (AUC) of 0.70 while MRI parameters (O/E TLV and %HL) had AUC of 0.82 and 0.84 respectively. At ROC determined optimal cut-off values, MRI parameters have higher sensitivity/specificity combinations at lower false positive rates (FPR) than the ultrasound parameters. At a standardized 5% FPR, %HL performs the best with a sensitivity/specificity of 0.76/0.78. At clinically employed cut-off values the sensitivity levels are similar for all parameters but MRI parameters provide the best combination of sensitivity and specificity as evidenced by better likelihood ratios (LR) (Table 1). Conclusions: A variety of measures have been proposed as antenatal predictors of survival in CDH. The two ultrasound parameters function at a similar level. MRI parameters appear to offer better predictive value.

OC223: Serial measurement of lung head ratio (LHR) does not predict survival in left-sided congenital diaphragmatic hernia (CDH)

Objectives: Accurate prediction of the likelihood of survival shortly after fetoscopic endoluminal tracheal occlusion (FETO) for the treatment of severe congenital diaphragmatic hernia (CDH) might help some parents decide whether to continue or terminate a pregnancy. We evaluated differences in fractional moving blood volume (FMVB) of the lung in fetuses with CDH treated with FETO, and their association with outcome. Methods: FMVB was evaluated in 24 fetuses 7 days before and 10–14 days after FETO. The percentage change between measurements was used to calculate ROC curves and likelihood ratios for the prediction of survival after tracheal occlusion. All cases were followed up until the neonatal period. Results: Fifteen cases (15/24) survived after the neonatal period (62.5%). The percentage change in FMVB was significantly greater in survivors than non-survivors (52.4% (SD 43.5%) vs. 8.9% (SD 18.9%), P = 0.01). The area under the ROC curve for survival was 0.852 (95% CI, 0.696–1.008). A positive test was defined as a change in percentage of 23.5% or more. The test was positive in 12/15 survivors and 1/9 non-survivors (sensitivity 80%, specificity 88.8%, PPV 92.3%, NPV 72.7%, positive LR 4.44). Conclusions: Changes in the fetal lung blood perfusion measured with FMBV after FETO might be incorporated into composite scores to establish the likelihood of survival shortly after treatment in CDH fetuses treated with FETO.