Prognostic role of tumor-head volume ratio in fetal sacrococcygeal teratoma.

OBJECTIVE: To evaluate the ability of a tumor-head volume ratio to predict outcome and incidence of hydrops in fetuses with sacrococcygeal teratoma. METHODS: Seventy-one sonograms were reviewed retrospectively from 28 fetuses with sacrococcygeal teratoma managed in our institution. Head volume (HV) and total tumor volume were calculated from sonograms. Amount of cystic tumor was estimated to determine solid tumor volume (STV) for the STV/HV ratio. RESULTS: Twenty percent of sonograms with STV/HV <1 and 97.3% with STV/HV >1 were associated with 1 or more abnormal sonographic signs (p = 0.000). Overall mortality was 11/27 (41%). There was no mortality in fetuses with a ratio of <1, while 11/18 (61%) of fetuses with ratio >1 died (p = 0.003). CONCLUSION: The STV/HV ratio may be used to identify fetuses with a high risk of a poor outcome due to high-output cardiac failure and hydrops, and may help guide management.

Intermediate interstitial deletion of chromosome 7q detected by first-trimester Down's syndrome screening.

We report a case of prenatally diagnosed chromosome 7q intermediate interstitial deletion with the aid of first-trimester Down's syndrome (DS) screening. After detection of a significantly diminished maternal serum pregnancy-associated plasma protein A and correspondingly high DS risk, the pregnant woman underwent amniocentesis for fetal chromosomal analysis. Amniocytes revealed a 46,XY,del(7) (q21.2q31.1) karyotype and 21 weeks' sonography revealed fetal growth restriction, elevated nuchal fold thickness and cardiomegaly. After therapeutic induction at 22 weeks of gestation, a 310-gram male fetus was born with multiple gross abnormalities including hypertelorism, wide nasal bridge, low-set ears, cleft palate, prominent cheeks, prominent nuchal skin, simian crease and postaxial polydactyly. We review the associated prenatal screening findings, the sonographic profile and phenotypical features associated with chromosome 7q intermediate interstitial deletion.

Surgical treatment of childhood recurrent pancreatitis.

BACKGROUND/PURPOSE: Surgical intervention that improves pancreatic ductal drainage is a reasonable treatment strategy for recurrent pancreatitis in children. METHODS: This study was approved by the Committee on Human Research (San Francisco, CA). A retrospective chart review was performed on children aged 0 to 17 years given the International Classification of Diseases, Ninth Revision coding diagnosis of chronic pancreatitis who underwent surgical intervention from 1981 to 2005. RESULTS: From 1981 to 2005, 32 children were treated for the diagnosis of chronic pancreatitis. The etiologies were obstructive (n = 13), idiopathic (n = 10), hereditary (n = 6), medications (n = 2), and infection (n = 1). Fifteen patients underwent 17 operations for chronic pancreatitis, including Puestow (n = 9), cystenterostomy (n = 2), Whipple (n = 1), distal pancreatectomy (n = 1), Frey (n = 1), DuVal (n = 1), excision of enteric duplication cyst (n = 1), and pancreatic ductal dilation (n = 1). The mean age at presentation of patients undergoing surgery was 6.0 +/- 4.1 years (mean +/- SD). The mean time from presentation to operation was 3.3 +/- 3.3 years. There were no deaths after surgical intervention. Of 15 patients, 2 (13%) required rehospitalization within 90 days of surgery, one for bowel obstruction, the other for splenic infarction. The median length of stay postoperatively was 8 days (range, 5-66 days). CONCLUSIONS: Chronic pancreatitis in children differs markedly in etiology when compared with adults. In most cases seen in our institution, chronic pancreatitis resulted from ineffective ductal drainage. These disorders are amenable to surgical decompression, which, ultimately, can prevent disease recurrence.

Fetal intervention for mass lesions and hydrops improves outcome: a 15-year experience.

PURPOSE: The natural history of certain prenatally diagnosed masses is well known. Large thoracic mass lesions can evolve one of 2 ways, either to regress and cause minimal morbidity, or to progress and enlarge, often resulting in hydropic changes in the fetus. This nonimmune hydrops carries a dismal prognosis, with nearly all fetuses expiring before or shortly after birth. However, hydrops associated with fetal mass lesions can be halted and even reversed with fetal intervention and treatment of the underlying defect. We examined our patients with fetal mass lesions to evaluate survival after intervention. METHODS: Institutional approval was obtained by the Committee on Human Research. A retrospective review was performed of 294 fetuses evaluated over 15 years with large mass lesions. All patients were evaluated for evidence of fetal hydrops using ultrasound criteria. Patients were divided according to type of intervention. Primary outcome measure was 30-day survival after birth. RESULTS: (1) Patients without fetal hydrops did not undergo fetal intervention and survived to 30 days after birth (167/172, 97%). (2) Patients with fetal mass lesions that developed hydrops fared poorly with no intervention (1/33 survival, 3%), whereas fetuses undergoing prenatal intervention fared much better (15/30 open, 50%; 3/10 percutaneous, 30%). (3) Four patients with hydropic congenital cystic adenomatoid malformation (n = 3) or pulmonary sequestration (n = 1) received steroids in preparation for surgery but underwent no intervention, and the patients survived the neonatal period. CONCLUSION: Fetuses with prenatal diagnoses of masses not associated with hydrops have excellent prognosis with survival higher than 95%. Nonimmune hydrops associated with prenatal diagnosis of a fetal mass is a devastating complication with less than 5% survival. Open resection of a mass causing hydrops resulted in 50% survival, with reversal of hydrops in a group with near-uniform fatality. Further investigation is warranted regarding the use of minimally invasive prenatal therapies including steroid administration for hydropic fetuses.

Prosthetic patches for congenital diaphragmatic hernia repair: Surgisis vs Gore-Tex.

PURPOSE: The sequelae of congenital diaphragmatic hernia (CDH) continue well beyond the perinatal period. Up to 50% of these patients have subsequent recurrent herniation or small bowel obstruction (SBO). A recent trend has been toward the use of bioactive prosthetic materials. We reviewed different patch closure techniques used for CDH repair at our institution and their association with these sequelae. METHODS: A retrospective review was performed of 152 records for patients with CDH. Newborns that underwent patch repair for CDH and survived for at least 30 days were included in the analysis. Primary outcomes evaluated were recurrent herniation and SBO. Two types of prostheses were examined, Gore-Tex, an artificial material, and Surgisis, a bioactive material. RESULTS: Twelve (44%) of 27 patients who had Surgisis repair had recurrent herniation. Seventeen (38%) of 45 patients who had a Gore-Tex repair had recurrent herniation. Two additional patients in each group presented with SBO. No significant difference in recurrent herniation rates was observed (P > .5). The time to recurrence was similar in both groups (log-rank, P = .75), with most recurrences (92% Surgisis, 76% Gore-Tex) occurring in the first year. CONCLUSION: The rates of recurrent herniation and SBO after neonatal prosthetic patch repair of CDH were similar regardless of the prosthetic material used (Surgisis or Gore-Tex).

Long-term follow-up after thymectomy for myasthenia gravis: thoracoscopic vs open.

PURPOSE: The aim of this study was to determine if patients are in remission or weaning off medication after thymectomy for myasthenia gravis (MG) and to examine the thoracoscopic versus open approaches. METHODS: A retrospective review of all patients who underwent thymectomy for MG at a tertiary referral center between 1992 and 2004 (N = 14). Six patients (42.9%) underwent thoracoscopic resection. Eight patients underwent open resection; 5 (35.7%) had median sternotomy and 3 (21.4%) by transcervical approaches. Follow-up was obtained in 12 (85.7%) of 14 patients by both chart review and telephone. The mean follow-up was 43.0 months (range, 4-111 months). Statistical significance was determined by Student's t test or Fisher's Exact Test. RESULTS: The thoracoscopic group had a mean operating time of 138.8 minutes compared with 139.8 minutes in the open group (P = .9). The thoracoscopic group had a mean estimated blood loss of 7.5 mL compared with 52.5 mL in the open group (P = .02). The mean length of stay for the thoracoscopic group was 1.5 days (range, 1-2 days) and was 10.6 days (range, 3-41 days) in the open group (P = .13). Three (60%) of 5 patients were entirely off medication in the thoracoscopic group at the time of follow-up compared with 3 (50%) of 6 patients in the open group (P = 1.0). In the thoracoscopic group, 5 (83.3%) of 6 were in class 1 to 3 of the DeFilippi classification (complete remission or improved with decreased medication requirements). One patient had no change in symptoms (class 4). In the open group, 5 (83.3%) of 6 were classified as DeFilippi 1 to 3 at the time of follow-up, and one patient had worsening symptoms (class 5). CONCLUSIONS: Both thoracoscopic and open approaches to thymectomy in patients with MG are effective, with more than 80% of patients in both groups in remission or with improvement at the time of follow-up. The thoracoscopic group has the added benefits of decreased estimated blood loss, decreased length of hospital stay, and improved cosmesis. We advocate the thoracoscopic approach for thymectomy in the treatment of juvenile MG.

Pre-emptive placement of a presealant for amniotic access.

OBJECTIVE: Amniotic access for fetal diagnosis and therapy can lead to membrane leaks, separation, and preterm premature rupture of membranes. Morbidity limits the beneficial effects of fetal intervention. We propose to examine a novel preventive "presealant" membrane puncture technique and evaluate it in vitro. STUDY DESIGN: Fetal membranes from normal term deliveries were fastened to a pressure controlled pump and punctured after presealant placement. Distinct bioadhesives were then compared for sealing efficacy by the measurement of leak pressures. Membranes were also evaluated for changes in tensile rupture strength after treatment. RESULTS: Preemptive sealing by 2 of the presealants achieved significantly higher leak pressures compared with control membranes (85 and 78, respectively, vs 27 cm of water; P < .05). One of the presealants worked effectively in a membrane-sealant-membrane interface (62 vs 30 cm of water; P < .05). All treated membranes, however, demonstrated diminished tensile rupture forces compared with control membranes (124 vs 170 g/cm2; P > .05). CONCLUSION: The application of a presealant is effective for the prevention of iatrogenic rupture in an in vitro model and may be beneficial for clinical application. Further studies with different bioadhesives are needed, given the limitations of the glues that are described in this study.

Survival of severe congenital diaphragmatic hernia has morbid consequences.

BACKGROUND/PURPOSE: Fetal tracheal occlusion (TO) was developed in an attempt to enhance prenatal lung growth and improve survival in fetuses with severe congenital diaphragmatic hernia (CDH). We conducted a randomized, controlled clinical trial in 24 fetuses with severe left CDH (liver herniated into the thorax and low lung-to-head ratio) to compare survival after endoscopic fetal TO vs standard perinatal care (control) and prospectively followed up the 16 survivors (9 control, 7 TO) to compare neurodevelopmental, respiratory, surgical, growth, and nutritional outcomes. METHODS: At 1 and 2 years old, subjects underwent evaluation consisting of medical and neurological history and physical, developmental testing, nutritional assessment, oxygen saturation and pulmonary function testing, chest radiograph, and echocardiogram. Growth and developmental measures were corrected for prematurity. Data were analyzed by Mann-Whitney rank sum test, Fisher's Exact test, and logistic and linear regression. RESULTS: Infants with TO were significantly more premature at birth (control vs TO, 37.4 +/- 1.0 vs 31.1 +/- 1.7 weeks; P < .01). Growth failure ( z score for weight <2 SDs below mean) was severe in both groups at 1 year of age (control vs TO, 56% vs 86%; P = .31). There was considerable catch-up growth by age 2 years (growth failure: control vs TO, 22% vs 33%; P = .19). There were no differences in other growth parameters. There were also no differences in neurodevelopmental outcome at 1 and 2 years. Supplemental oxygen at hospital discharge was a significant predictor of worse neurodevelopmental outcome at 1 and 2 years old (P = .05 and P = .02, respectively). Hearing loss requiring amplification has been diagnosed in 44% of the group (control vs TO, 44% vs 43%; P = 1.0). CONCLUSIONS: In this group of infants with severe CDH, there were no differences in outcome at 2 years old despite significant prematurity in the TO group. Oxygen supplementation at hospital discharge identified the most vulnerable group with respect to neurodevelopmental outcome, but all infants had significant growth failure, and hearing impairment is a substantial problem in this population. Severe CDH carries significant risk of chronic morbidity.

Recent advances in fetal surgery.

Fetal surgery is now an accepted modality for treatment of a variety of lethal and non-lethal congenital conditions. It represents a new, fast-moving frontier of medicine in which cooperative mulitdisciplinary effort and input are required to assure both fetal and maternal welfare. A wide range of therapeutic strategies from percutaneous to open invasive techniques has led to a complex list of different procedures for different diseases. This review identifies the most common disease entities managed by fetal intervention, examines the evolution in development of techniques to those currently used, and describes the prospective, randomized trials presently underway that are designed to establish the safety and determine true efficacy of treatment. Fetal surgery as a (multi)discipline continues to strive to minimize maternal and fetal risk. Undoubtedly, as tocolytic therapy and neonatal intensive efforts improve, fetal therapy will expand.