Outcomes for Prenatally Diagnosed Right Congenital Diaphragmatic Hernia.

BACKGROUND: Right congenital diaphragmatic hernia (CDH) occurs less frequently than left CDH. Therefore, prognostic indicators for right CDH are not as well studied as for left CDH. METHODS: A retrospective review from a single, tertiary referral center (from 1994 until July 2013) of patients with unilateral right CDH was conducted. Prenatal characteristics were evaluated and correlated with survival to discharge and need for extracorporeal membranous oxygen (ECMO). RESULTS: In total, 34 patients were identified. There were 12 postnatal deaths and 2 fetal demises (6%), representing an overall mortality of 41%. Six patients required ECMO. Nine patients underwent fetal intervention and were analyzed separately. For patients not undergoing fetal intervention, the survival rate was 52% and a higher mean (±SD) lung-to-head ratio (LHR) was associated with survival (1.1 ± 0.4 vs. 0.8 ± 0.2, p = 0.03). There were no deaths or need for ECMO in any patient with an LHR ≥1.0. Of the 9 patients who underwent fetal intervention, survival was 78% and only 1 patient required ECMO. Fetal intervention was primarily tracheal occlusion (n = 8). CONCLUSIONS: An LHR <1.0 is associated with worse survival for right CDH and may also reflect the need for ECMO.

Testicular malakoplakia: a rare sonographic mimic of malignancy.

Testicular malakoplakia is a rare, benign condition that most often occurs in an immunocompromised patient with chronic infection. Its occurrence is acute, with pain and testicular enlargement. Sonography is commonly performed to evaluate the patient for epididymitis or torsion. The appearance of testicular malakoplakia on sonography examination has only rarely been described, making its diagnosis challenging. Because its appearance overlaps with testicular neoplasm and infection, it should be considered when making a differential diagnosis of a diffuse testicular abnormality in the appropriate clinical setting.

The fetal urinoma revisited.

The fetal urinoma is a rare but important diagnosis, as it indicates substantial underlying obstruction with implications for the functionality of the affected kidney. This case series describes a single center's experience with the diagnosis and management of fetal urinomas. All 25 cases were diagnosed or referred to our medical center over an 11-year period. Most cases were secondary to either posterior urethral valves or ureteropelvic junction obstruction. Fetal interventions, including percutaneous drainage of the urinoma and cystoscopic alleviation of bladder outlet obstruction, were performed in 4 cases.

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.

Supratentorial abnormalities in the Chiari II malformation, III: The interhemispheric cyst.

OBJECTIVE: Our clinical observations noted an interhemispheric "cyst," a protrusion of the posterior superior third ventricle, in fetuses with myelomeningocele (MMC). The study analyzed the frequency of this observation and features that influence its visualization. METHODS: We searched for cases of fetal MMC sonographically detected between 1999 and 2007. Intracranial findings were retrospectively reviewed with attention to the interhemispheric cistern. Additionally, we reviewed 25 fetuses without a central nervous system anomaly and 10 fetuses with ventriculomegaly but no MMC. RESULTS: Among 89 fetuses identified, the mean gestational age was 22 weeks 4 days. Thirty-eight (43%) had an interhemispheric cyst. The frequency was similar on sonograms judged to be well visualized compared with studies judged to be suboptimally visualized. The degree of ventriculomegaly, timing of diagnosis, and severity of the Chiari II malformation did not appear to influence the frequency of the finding. Among fetuses without a central nervous system anomaly, no interhemispheric cysts were detected; a cyst was detected in 1 of 10 fetuses with ventriculomegaly. Interhemispheric cysts were more likely to be detected in fetuses with the Chiari II malformation than fetuses with ventriculomegaly but without the Chiari II malformation (P = .04). CONCLUSIONS: Interhemispheric cysts are a common supratentorial feature of the Chiari II malformation. Their presence appears to be unrelated to other features of the Chiari II malformation. Although interhemispheric cysts are seen in other abnormal fetuses, their striking prevalence in the Chiari II malformation should lead to a thorough examination for MMC.

Color Doppler sonography in evaluation of spermatoceles: the "falling snow" sign.

OBJECTIVE: Doppler sonography is not commonly used in evaluation of cystic lesions with internal echoes. Here we report the use of the mechanical properties of color Doppler sonography to further characterize 3 spermatoceles. METHODS: Three patients who came to University of California San Francisco Imaging Center with painless unilateral scrotal enlargement were evaluated with sonography and were found to have large spermatoceles. Color Doppler sonography was applied to these spermatoceles, and digital video clips were obtained as the color beam was instituted. RESULTS: When color Doppler sonography was applied to each spermatocele, the internal echoes moved away from the transducer, resulting in an appearance similar to falling snow. CONCLUSIONS: The "falling snow" sign can be used to enhance the diagnosis of a spermatocele as well as to evaluate a superficial cystic lesion with echogenic fluid and internal microdebris that is difficult to distinguish from a solid mass.

Paradoxical movement of abdominal contents: a real-time sonographic finding indicating a congenital diaphragmatic hernia.

OBJECTIVE: A congenital diaphragmatic hernia (CDH) is the most common intrathoracic extracardiac congenital anomaly, and it is associated with high mortality and other fetal abnormalities. Early diagnosis is essential for delivery planning and possible intervention. However, the in utero diagnosis of CDHs by sonography can be challenging. We report the utility of paradoxical movement of the intra-abdominal contents in identifying CDHs. METHODS: Two fetal cases were identified: 1 referred with a suspected CDH and the other with a mediastinal shift and a suspected congenital cystic adenomatoid malformation (CCAM). Real-time sonography was performed in both fetuses with attention on movement of the intra-abdominal contents during fetal breathing, particularly during inspiration. RESULTS: Real-time sonography in both fetuses showed paradoxical movement of the abdominal contents during fetal inspiration. In the case with the presumptive diagnosis of a CCAM, the paradoxical motion was essential in changing the diagnosis from a CCAM to a CDH. CONCLUSIONS: Paradoxical movement of the abdominal contents can be used in addition to the traditional sonographic signs in diagnosing CDHs.

Maternal morbidity after maternal-fetal surgery.

OBJECTIVE: There is a paucity of published data on the maternal risks of fetal surgical interventions. We analyzed maternal morbidity and mortality that were associated with different types of fetal intervention (open hysterotomy, various endoscopic procedures and percutaneous techniques) to quantify this risk. STUDY DESIGN: We performed a retrospective evaluation of a continuous series of 187 cases that had been performed between July 1989 and May 2003 at the Fetal Treatment Center, a highly specialized interdisciplinary center for fetal surgery at the University of California, San Francisco. The primary outcome was the frequency of maternal morbidity for open, endoscopic, and percutaneous procedures to access the fetus. RESULTS: There were 187 pregnant women with confirmed major fetal malformations who were candidates for intrauterine fetal intervention. Maternal-fetal surgery was performed in 87 cases by open hysterotomy, in 69 cases by endoscopic procedures, and in 31 cases by percutaneous techniques. There were no maternal deaths, but significant short-term morbidity was observed. There were no significant differences in the incidence of premature rupture of membranes, pulmonary edema, placental abruption, postoperative vaginal bleeding, preterm delivery, or interval from maternal-fetal surgery to delivery between endoscopic procedures and open surgery. Complications were significantly less in the percutaneous ultrasound-guided procedures. Endoscopic procedures, even with a laparotomy, showed statistically significantly less morbidity compared with the open hysterotomy group regarding cesarean delivery as delivery mode (94.8% vs 58.8%; P < .001), requirement for intensive care unit stay (1.4% vs 26.4%; P < .001), length of hospital stay (7.9 vs 11.9 days; P = .001), and requirement for blood transfusions (2.9% vs 12.6%; P = .022). Chorion-amnion membrane separation (64.7% vs 20.3%; P < .001) was seen more often in the endoscopy group. CONCLUSION: Short-term morbidities include increased rates of cesarean birth, treatment in intensive care, prolonged hospitalization, and blood transfusion, all of which were more common with hysterotomy compared with other techniques. Maternal-fetal surgery can be performed without maternal death. Results from this study provide helpful data for counseling prospective patients.

The likelihood ratio of sonographic findings for the diagnosis of hemorrhagic ovarian cysts.

OBJECTIVE: The purpose of this study was to quantify the likelihood ratio (LR) of specific sonographic features and experienced sonologist assessment in diagnosing a hemorrhagic ovarian cyst and to better understand the diagnostic power of sonography in making this diagnosis. METHODS: Two sonologists, blinded to the patient's clinical history, independently reviewed the sonograms of 252 adnexal masses. For each mass, each sonologist recorded features using a standardized checklist, which included observations regarding the presence of fibrin strands, a retracting clot, septations, and wall irregularity. Each reviewer independently chose 1 specific conclusion from a list of possibilities that included the diagnosis of a hemorrhagic ovarian cyst. Sonographic observations and sonologist predictions were compared with pathologic findings (n = 214) or follow-up sonography (n = 38). RESULTS: Of the 252 masses, there were 30 hemorrhagic cysts. One sonologist correctly identified 25 hemorrhagic cysts, with 1 false-positive, 2 false-negative, and 3 indeterminate calls (LR 185). The other sonologist correctly identified 24 hemorrhagic cysts, with 1 false-positive, 0 false-negative, and 6 indeterminate calls (LR 178). The 2 cases incorrectly diagnosed as hemorrhagic cysts were endometriomas at pathologic diagnosis. Specific sonographic observations and combinations of observations performed as follows: retracting clot (LR >67); fibrin strands (LR 40); fibrin strands and no septations (LR 100); and fibrin strands, no septations, and smooth wall (LR 200). CONCLUSIONS: Fibrin strands and a retracting clot are paramount observations in allowing high confidence in the diagnosis of hemorrhagic ovarian cysts. Approximately 90% of hemorrhagic ovarian cysts will exhibit at least 1 of these 2 features.

Syndromes with focal femoral deficiency: strengths and weaknesses of prenatal sonography.

OBJECTIVE: To further characterize the prenatal diagnosis of proximal focal femoral deficiency and to contrast this entity with a variety of other "syndromes" in which the femur may be deficient. METHODS: We report 2 cases of proximal focal femoral deficiency and a case of femoral-facial syndrome. RESULTS: A series of 3 women whose fetuses had deficiency of 1 or both femurs were carefully analyzed for severity and for similarities and differences with other syndromes in which the femur may be deficient, as well as syndromes showing global skeletal abnormalities. CONCLUSIONS: Prenatal sonography is a valuable tool both for detecting cases of proximal focal femoral deficiency, separating them from syndromes showing global skeletal abnormalities, and for stratifying them according to severity.

Fetoscopic temporary tracheal occlusion for congenital diaphragmatic hernia: prelude to a randomized, controlled trial.

OBJECTIVE: As previously reported, high postnatal mortality seen in fetuses with congenital diaphragmatic hernia (CDH) with liver herniation and low lung-to-head ratio (LHR) appears to be improved in fetuses who undergo fetoscopic temporary tracheal occlusion (TO). To test whether further evolution of this technique produces results that justify a randomized controlled trial comparing prenatal intervention to postnatal care, the authors analyzed 11 additional cases and the cumulative experience with 19 cases. METHODS: The authors analyzed retrospectively the outcome of 11 new and 8 previously reported cases of fetoscopic temporary tracheal occlusion. Various factors were studied including maternal morbidity, antenatal outcome, physiologic lung response, and neonatal course. RESULTS: Temporary TO can be accomplished using 3 5-mm radially expanding uterine ports without hysterotomy. Obstetric morbidity included mild pulmonary edema in 6 cases, chorioamniotic separation and premature rupture of membranes in 12 patients, and preterm labor and delivery in all patients. Thirteen of 19 (68%) neonates survived for 90 days after delivery; one died in utero, and 5 died after birth. Late mortality included one death caused by sepsis and 2 by complications associated with tracheostomies. Morbidity from gastroesophageal reflux requiring Nissen fundoplication, tracheal injury requiring repair or tracheostomy, and recurrent hernias after diaphragmatic repair were characteristic in longterm survivors. CONCLUSIONS: Fetoscopic temporary TO may improve outcome in poor-prognosis fetuses with CDH. However, complications related to tracheal dissection, premature delivery and late morbidity are significant. This experience has led to simpler techniques for fetoscopic tracheal occlusion and to an National Institutes of Health-sponsored randomized controlled trial comparing fetoscopic tracheal occlusion with optimal postnatal care.

Presumptive intrahepatic congenital cystic adenomatoid malformation.

Congenital cystic adenomatoid malformation (CCAM) and extralobar pulmonary sequestration (EPS) are 2 rare types of bronchopulmonary malformations that typically appear in infancy and childhood. A CCAM is a hamartomatous lesion of the lung, thought to be the result of the cessation of bronchiolar maturation with overgrowth of mesenchymal elements. An EPS is a discrete mass of lung tissues separate from the tracheobronchial tree and is supplied by a systemic vascular source (usually aortic). As well, it forms outside the normal pleural investment. Conran and Stocker analyzed 50 cases of EPS and found that 50% (23 of 46) were associated with a coexistent CCAM. Rare cases of intra-abdominal EPS (IEPS) have been reported in the literature, and in these cases, CCAMs commonly occur within the pulmonary sequesterant. We present an interesting case of CCAM manifesting within the liver of a patient treated prenatally for a large pulmonary type II CCAM and review the reported cases of IEPS with CCAM.

Sonographic detection of gallbladder duplication: two cases discovered in utero.

OBJECTIVE: To report the in utero diagnosis of a duplicated gallbladder. METHODS: Obstetric sonography was performed at 2 separate referral centers. A comprehensive level 11 examination was performed at each center. RESULTS: In both cases, a duplicated gallbladder was detected in utero without the presence of other anatomic abnormalities. CONCLUSIONS: Gallbladder duplication, although uncommon, should be considered when an additional cystic structure is seen in the right upper quadrant. Recognition of the presence of a duplicated gallbladder, a relatively benign condition, prevents invoking a more serious diagnosis, such as a choledochal or duodenal duplication cyst.

Sonographic evaluation of liver nodularity: Inspection of deep versus superficial surfaces of the liver.

PURPOSE: We determined the diagnostic performance of assessing the nodularity of deep versus superficial surfaces of the liver as a predictor of cirrhosis. METHODS: One sonologist retrospectively reviewed the sonograms of 100 patients at risk for cirrhosis based on clinical data and laboratory tests. A second sonologist reviewed the sonograms of a subset of 25 patients to assess for inter-reader variability, while the first sonologist re-reviewed the sonograms of a different subset of 25 patients for intrareader variability. Sonograms of all patients were obtained with standard sector- or curved-array transducers. Biopsy confirmation of cirrhosis was used as the standard for diagnostic accuracy. RESULTS: Fifty of the 100 patients had a pathologic diagnosis of cirrhosis. The sensitivity of inspection of the deep surface versus the superficial surface was 86% versus 53% (p = 0.0003), respectively. Sensitivity was not dependent on pathologic type. Intrareader agreement was better for deep than for superficial surface observations. The overall inter-reader agreement was fair and comparable for both deep and superficial surface methods. CONCLUSIONS: The sensitivity for detecting cirrhosis based on surface nodularity is greater for deep than for superficial surface observations. As the prevalence of disease increases, the accuracy of assessment of the deep surface in predicting cirrhosis increases.