Fetal surgery: a critical review.

Therapeutic fetal surgical procedures are predicated upon the ability to make an accurate fetal diagnosis. The earliest open fetal surgical procedures were introduced in the 1960s to treat Rh isoimmunisation. They were introduced when it became possible to predict impending fetal demise. Open procedures were abandoned when percutaneous approaches proved superior. The introduction of fetal ultrasound allowed the diagnosis of other congenital anomalies, some being amenable to fetal interventions. Open fetal surgical procedures were initially utilised, with significant maternal morbidity. For some anomalies, percutaneous approaches became favoured. In general, all of these procedures involved significant risks to the mother, to save a baby that was likely to die before or shortly after birth without fetal intervention. Fetal repair for myelomeningocele was a "sea change" in approach. The same maternal risks were taken to improve the quality of life of the affected fetus, not save its life. The completion of the "MOMs Trial" has occasioned a "tsunami" of centres in North America applying this approach. Others are attempting percutaneous repairs, with mixed results. This paper reviews the history of fetal surgery, focusing on the themes of the tension between accurate diagnosis and prognosis and open versus "minimally invasive" approaches.

Development of an animal model to study congenital urinary obstruction.

PURPOSE: We outline the development of a reliable model of obstructive uropathy in fetal lambs highlighting our understanding of the critical time points for interventions and the variability of any such model. We identify some discoveries that may have clinical implications. METHODS: The model requires 60-day-gestation fetal lambs. In lambs, glomerulogenesis is complete by 90 days gestation. (Term is 145 days.) The ability to develop a reliable method of creating bladder outlet obstruction in females, ligating both the urethra and urachus was critical. The lambs are bred to an accuracy of ±24 h. RESULTS: Creating the model at 50-60 days gestation, produces different expressions of renal dysplasia in groups of lambs undergoing identical interventions at the same stage of gestation. Early complete urethral obstruction can produce the Potter phenotype. An appropriately timed vesico-amniotic shunt preserves renal development, producing a shrunken, non-compliant bladder. Shunting the normal fetal bladder at 80 days gestation produces a similar bladder. Provision of a low-pressure valve in the shunt preserves bladder development and compliance. Using a high-pressure shunt produces results similar to non-shunted lambs. DISCUSSION: We developed a reliable animal model for obstructive uropathy. Being alert to peripheral results can lead to new findings.

Examination of the secondary palate on stored 3D ultrasound volumes of the fetal face.

OBJECTIVES: To examine the use of oblique planes from stored three-dimensional (3D) ultrasound volumes of the fetal face for viewing the secondary palate at various gestational ages. METHODS: 3D ultrasound volumes of the fetal face acquired with surface rendering at 15-35 weeks' gestation in 31 fetuses with confirmed normal secondary palates were reviewed. The secondary palate was viewed in three oblique planes targeted at the uvula: the oblique axial, the oblique sagittal and the reverse face view. The detection and appearance of the secondary palate, including the soft palate, with these views at various gestational ages were compared. RESULTS: The various surfaces of the secondary palate could be viewed in all 31 fetuses in the oblique axial and the reverse face views, and in all except two fetuses in the oblique sagittal view. Both of these were < 19 weeks' gestation, at which age the uvula could not be identified clearly in this plane. CONCLUSIONS: The oblique axial, the oblique sagittal and the reverse face view targeted at the uvula allow visualization of the various aspects of the fetal secondary palate on 3D ultrasound in the second and third trimesters of pregnancy. The uvula could be used as a landmark for viewing the soft palate, but was not always easily identifiable before 19 weeks' gestation.

A case of amyoplasia in a monochorionic twin pregnancy: a sequela from twin-twin transfusion syndrome?

OBJECTIVE: To present and discuss the sonographic and clinical findings in one twin of a monochorionic pair affected by amyoplasia. METHODS: On ultrasound examination at 21 weeks in a monochorionic twin pregnancy, twin I was smaller, hydropic, with multiple contractures consistent with amyoplasia and oligohydramnios. Twin II was anatomically normal with polyhydramnios. RESULTS: The twins were delivered at 28 weeks' gestation. The clinical findings were consistent with twin-twin transfusion syndrome (TTTS). CONCLUSION: It is postulated that TTTS may be a causative factor in the excessive incidence of amyoplasia in monozygotic twin pregnancy.

Viewing of the soft and the hard palate on routine 3-D ultrasound sweep of the fetal face--a feasibility study.

OBJECTIVES: To report a technique to view the fetal soft and hard palates, utilizing acquired routine 3-D volumes of the fetal face. METHOD: The axial, sagittal and coronal planes in acquired volumes of 3-D surface rendering of 5 normal fetal faces obtained at 19, 21, 23, 26 and 28 weeks, respectively, were reviewed by focusing on the uvula. RESULTS: The surfaces of the soft and the hard palate could be viewed in oblique axial, oblique sagittal and targeted coronal planes in all fetuses. CONCLUSION: Rotating or tilting of the axial, sagittal and coronal planes of the fetal head allows the visualization of the various aspects of the soft and hard palates, with the uvula as a useful landmark.

Antenatal diagnosis of anophthalmia by three-dimensional ultrasound: a novel application of the reverse face view.

The prenatal diagnosis of anophthalmia can be made on the demonstration of absent eye globe and lens on the affected side(s) on two-dimensional ultrasound examination, but when the fetal head position is unfavorable three-dimensional (3D) ultrasound may reveal additional diagnostic sonographic features, including sunken eyelids and small or hypoplastic orbit on the affected side(s). We present two cases of isolated anophthalmia diagnosed on prenatal ultrasound examination in which 3D ultrasound provided additional diagnostic information. The reverse face view provides valuable information about the orbits and the eyeballs for prenatal diagnosis and assessment of anophthalmia.

A case of thanatophoric dysplasia: the early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis.

OBJECTIVE: To present the early 2D and 3D ultrasound findings and the molecular confirmation in a case of thanatophoric dysplasia. METHODS: On ultrasound examination, there was frontal bossing, increased nuchal translucency and short limbs at 12 weeks' gestation and a small thorax and short and bowed long bones on 3D at 16 weeks. Amniocentesis and DNA analysis confirmed the mutation of FGFR3 gene indicating thanatophoric dysplasia. RESULTS: After medical termination of pregnancy, the postmortem X-ray and pathology examination findings were consistent with the diagnosis. CONCLUSION: 3D anatomy scan and molecular confirmation may be helpful in early diagnosis and genetic counseling of thanatophoric dysplasia.

Activated extracellular signal-regulated kinase correlates with cyst formation and transforming growth factor-beta expression in fetal obstructive uropathy.

Human renal dysplasia is frequently associated with urinary tract obstruction and the abnormal expression of mitogen-activated protein kinase (MAPK). Here, we determined the renal responses and MAPK expression in developing kidneys that were obstructed in fetal lambs. Kidneys were harvested at various times after obstruction (gestation day 60) through normal term (day 145). Dilation of Bowman's capsule and proximal tubules was seen 2 days after obstruction and involved the whole cortex 18 days later, with numerous cysts present throughout the kidney at term. The proliferation marker Ki-67 and transforming growth factor-beta (TGF-beta) were detected 2 days after obstruction and progressively increased in tubules, cysts, and the interstitium. In control kidneys, p38 was expressed in tubules only during the fetal stage, whereas phosphorylated extracellular signal-regulated kinase (P-ERK) was limited to ureteric buds and collecting ducts at all stages examined. However, Jun-N-terminal kinase (JNK) was absent in the fetal kidney but present in tubules at term. In obstructed kidneys, cyst epithelia were positive for p38 and P-ERK but negative for JNK throughout all stages. These studies show that P-ERK correlated spatially and temporally with Ki-67 and TGF-beta expression, which suggests that ERK may contribute to cyst formation and fibrosis in the obstructed fetal kidney.

Addison's disease presenting with an acute abdomen and complicated by cardiomyopathy.

Adrenal insufficiency typically presents with non-specific symptoms, followed by shock secondary to a salt-wasting crisis and/or the vascular effects of glucocorticoid deficiency if it progresses to acute adrenal insufficiency. Rhabdomyolysis and cardiac dysfunction are rarely reported, particularly in children. We report a child with adrenal insufficiency, presenting with acute abdominal signs, probably secondary to rhabdomyolysis, and complicated by reversible cardiomyopathy. Acute adrenal insufficiency should be considered with this presentation. The possibility of impaired cardiac function during its treatment should also be considered.

Different phenotypes of dysplastic kidney in obstructive uropathy in fetal lambs.

PURPOSE: The cause of cyst production in renal dysplasia is uncertain. The authors hypothesized that different patterns of renal dysplasia result from variations in the timing and site of the urinary tract obstruction. METHODS: The authors operated on fetal lambs at 50 and 60 days' gestation. Male lambs underwent urethral and urachal ligation and female lambs unilateral ureteric ligation. They were delivered by cesarean section at 145 days' gestation and killed. RESULTS: Of 12 lambs operated on at 50 days' gestation, 4 survived. Of 26 lambs operated on at 60 days, 21 survived. The authors identified 3 types of dysplastic kidneys. Type A, fibrotic kidneys (2.2 g) with no cysts and interstitial fibrosis. There were reduced numbers of proximal tubules, but distal tubules and collecting ducts persisted. (50-day obstruction, n = 5 kidneys); type B, Sponge-like kidneys (37g): these had large cysts with minimal interstitial fibrosis. (87% of 60-day uretheral and urachal ligation model n = 12 kidneys); Type C, Small kidneys (4.8 g) with no large cysts (60-day Ureteric ligation model n = 7 kidneys). CONCLUSION: The authors produced 3 different types of renal dysplasia by creating urinary tract obstruction at different sites and gestational ages.

Testicular proximity can induce gubernaculum formation after delivery.

PURPOSE: This paper presents the hypothesis that after delivery as late as 38 weeks' gestation, a testis placed near the internal ring can induce the formation of a gubernaculum and undergo a belated but otherwise normal descent. METHODS: Two boys with a gastroschisis were each born with one of their testes prolapsed through the defect. The testis was sutured just lateral to the deep inferior epigastric vessels at the time of the primary closure of the gastroschisis. RESULTS: One boy born at 34 weeks had his left testis prolapsed through a left-sided gastroschisis defect. At 3 months, he was admitted to the hospital with a large left inguinal hernia. The repair was complicated by the presence of a large mass of jellylike tissue extending through the internal ring to the upper scrotum. A second boy was born at 38 weeks' gestation. The testis made its way uneventfully into the right hemiscrotum by 10 months of age. CONCLUSION: These cases suggest that testicular proximity is a critical factor in the formation of the gubernaculum and that the testis can induce the formation of the gubernaculum as late as 38 weeks gestation.

Serum creatine kinase levels parallel the clinical course for rhabdomyomatous Wilms tumor.

A right-sided renal mass in an 11-month-old girl was diagnosed by percutaneous needle biopsy as Wilms tumor, which on histologic examination was found to be predominantly rhabdomyomatous. As part of the examination, serum creatine kinase (CK) and CK-MB levels were measured and were significantly elevated at 994 U/L (reference range, 42-180 U/L) and 40 U/L (reference range, 0-3 U/L), respectively. Subsequently, an 8-month-old girl was admitted to the hospital with septicemia and was found to have an abdominal mass. A diagnosis of bilateral Wilms tumor was made following percutaneous biopsy of both kidneys; histologic examination confirmed that the tumor was predominantly rhabdomyomatous. Serum CK and CK-MB levels also were measured and were significantly elevated at 685 U/L and 84.4 U/L, respectively. In both cases, the serum CK and CK-MB levels reflected the clinical course; elevation in serum levels was associated with tumor recurrence, infarction, or chemotherapy-related necrosis. We conclude that these enzymes have clinical usefulness as markers for Wilms tumor showing rhabdomyomatous morphologic features.

Early fetal obstructive uropathy produces Potter's syndrome in the lamb.

BACKGROUND: If creating an obstructive uropathy early in glomerulogenesis produces MCDK (Multicystic Dysplastic Kidney), then a very early obstruction may produce Potter's Syndrome (PS) with oligohydramnios. METHODS: Fetal lambs at 50 days' gestation underwent urethral and urachal ligation using fine SILASTIC (Dow Corning, Midland, MI) tubing and were delivered by cesarean section at 145 days' gestation. At the time of death, kidney weight, length, and lung volumes were measured. These samples were examined histologically. Urinary sodium, chloride, potassium, and osmolarity also were measured. These were compared with normal-term fetuses. RESULTS: One ewe miscarried. Two of 3 of 50-day obstructive uropathy lambs survived. The 2 survivors had dysplastic kidneys. One with large gastroschisis did not have PS but the other had renal, pulmonary, and chest wall hypoplasia. Both male lambs had undescended testes with a large bladder. Kidney weights were 2 g in the PS lamb and 16 g in controls. Lung volume was 84 mL in the PS lamb and 340 mL in controls. The lamb's face was compressed and the fetus was hydropic. Urine sodium, potassium, and osmolarity levels were higher than that of controls. CONCLUSIONS: This is the first successful model ligating the penile urethra and urachus in a 50-day lamb. The authors' previous 60-day model did not have PS, but an earlier obstructive uropathy caused MCDK with PS.

Glomerular size in renal dysplasia secondary to obstructive uropathy: a further exploration of the fetal lamb model.

BACKGROUND/PURPOSE: Creating an obstructive uropathy early in glomerulogenesis would produce multicystic dysplastic kidneys (MCDK). Measuring the mean planar area of the glomeruli (GMPA) may clarify the pathogenesis of MCDK. METHODS: Fetal lambs at 60 days' gestation had their left ureter ligated and were delivered by cesarian section at 145 days' gestation. Kidney weight and length were recorded. GMPA in 3 zones (outer, middle, inner) of the sectioned kidney was measured using a computerized planimeter. The obstructed kidneys were compared with contralateral unobstructed kidneys. The unpaired Student's t test was used to determine significance. RESULTS: One ewe miscarried. Four of 5 (80%) 60-day lambs survived. All had dysplastic kidneys. Mean kidney weights were 4.3 +/- 0.84 g in MCDK and 16.8 +/- 3.6 g in controls (P< .05). The GMPA of the outer, middle, and inner zones of the MCDK were 2.7 x 10(-3) mm2, 3.2 x 10(-3) mm2, and 4.0 x 10(-3) mm2, respectively. Controls were 2.8 x 10(-3) mm2, 4.4 x 10(-3) mm2, and 6.0 x 10(-3) mm2. The glomeruli of 60-day fetal kidneys were 3.0 x 10(-3) mm2, 6.1 x 10(-3) mm2, and 11.0 x 10(-3) mm2. MCDK had smaller glomeruli in the inner and middle zones than controls. CONCLUSION: Fetal glomeruli appear to grow from the inner zone of the kidney. Early urinary tract obstruction stops this growth.

The pathogenesis of dysplastic kidney in a urinary tract obstruction in the female fetal lamb.

BACKGROUND/PURPOSE: The type of renal dysplasia resulting from obstructive uropathy depends on the completeness of the obstruction and its timing with respect to the stage of glomerulogenesis at the time of the obstruction. The authors created a successful obstructive uropathy model in the female fetal lamb to demonstrate the differing pathogenesis of renal dysplasia. METHODS: Female fetal lambs at 60 and 90 days' gestation had their urethra and urachus ligated transabdominally and were delivered by cesarean section at 145 days (full term). Kidney length and cortical thickness were measured, and samples were examined histologically. In the lambs operated on at 90 days, the urine was collected at delivery and Na and CI were measured and compared with the results obtained from normal full-term lambs. RESULTS: Seven of 10 female lambs had hydronephrosis or dysplastic kidneys. The cortext to kidney length ratio was 10+/-3% in the 90-days hydronephrotic group versus 29+/-6% in the controls (P<.001). Morphologically, the 90-day model had dilatation of the collecting tubules with normal glomerular numbers. The 60-day model had tubular cysts with fibromuscular cuffing and reduced glomerular numbers. The fetal urine Na was 47+/-3.3 mmol/L in controls versus 78+/-24 mmol/L in the hydropnephrotic lambs (P<.05). The urine CI in these lambs was 38+/-8.6 mmol/L in controls versus 55+/-14.5 mmol/L in the hydronephrotic lambs (P<.05). CONCLUSIONS: An obstructive uropathy model was created in female fetal lambs. There were no dysplastic changes in the kidneys in lambs operated on at 90 days' gestation, but there were definite dysplastic changes in those operated on at 60 days. Concentrations of Na and CI in the fetal urine are higher than normal in the 90-day model.

'Stab and Split': a 'bloodless' and 'scarless' skin incision technique for minor surgery.

The 'stab and split' skin incision technique was applied to children requiring minor surgery. A small stab incision was made on a skin crease and split open with mosquito forceps. After the surgical procedure was completed, the wound was closed in layers with a subcuticular suture to the skin. In all cases, splitting caused virtually no blood loss because subcutaneous veins were left intact, and the wounds healed well, especially in infants. 'Stab and split' is an effective alternative incision technique for minor surgery in younger children.

A case with duodenal duplication cyst: prenatal diagnosis and surgical management.

OBJECTIVE: We report the first case of a subhepatic cystic mass diagnosed in utero that subsequently proved to be a duodenal duplication cyst. METHOD: Conventional prenatal abdominal ultrasound. RESULTS: On prenatal ultrasonography, the differential diagnosis was choledochal cyst, bowel duplication cyst, or omental cyst. CONCLUSION: The prenatal detection of a cystic mass allowed close neonatal surveillance and timely surgical intervention prior to the onset of potentially serious complications.