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Biomedical subjects

Roy A Filly

Publications and source records attributed to Roy A Filly.

At least 19 recordsLinked to original sources

Ultrasound screening of fetuses at increased risk for Down syndrome: how many missed diagnoses?

OBJECTIVE: To determine the number of Down syndrome (DS) fetuses identified, amniocenteses performed, and procedure-related losses incurred when second-trimester ultrasound is used to screen high-risk patients in order to determine who should undergo an amniocentesis. METHODS: A decision analytic model was designed for women at increased risk for a DS fetus due to either advanced maternal age (AMA) or a positive expanded maternal serum alpha fetoprotein (MSAFP) screening test, also known as a triple screen (+triple) test. The model compared: (1) the current standard of offering all at-risk women amniocentesis to (2) a policy of performing amniocentesis only when sonographic markers of DS are seen on ultrasound. Baseline assumptions included a sensitivity of 60.6% for targeted ultrasound and a screen-positive rate of 16.2%. RESULTS: If targeted ultrasound is used to determine whether high-risk patients should undergo amniocentesis, 56% (3933/7025) of all DS fetuses are missed. The diagnosis of DS is missed most frequently among women at highest risk for DS (AMA and +triple). In this subgroup of patients, there are 3152 DS fetuses in the second trimester, of which 2815 (89%) are identified by triple screen test. When an ultrasound screen is added, only 1709 (54%) of DS fetuses will be identified. CONCLUSION: Substantially fewer DS fetuses will be detected when targeted ultrasound is used as a screen among already identified high-risk patients.

Decision Support Techniques↗

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.

Female↗

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.

Diagnosis, Differential↗

Fetal relative lung volume: quantification by using prenatal MR imaging lung volumetry.

PURPOSE: To retrospectively determine a biometric algorithm for calculating relative lung volume in fetuses with normal lungs and of a wide range of gestational ages by using proved independent variables and to retrospectively investigate the use of this algorithm in fetuses with pulmonary hypoplasia. MATERIALS AND METHODS: Total lung volume (TLV) was measured by using planimetry on single-shot rapid acquisition with relaxation enhancement magnetic resonance (MR) images obtained in 91 fetuses with ultrasonographically (US) normal chests and 28 fetuses with US-determined pulmonary hypoplasia. All fetuses were aged between 18 and 38 weeks gestation. Analysis of covariance was used to identify parameters that were not different between the fetuses with US-determined normal and those with US-determined abnormal chests, and these variables were used to construct an algorithm for calculating predicted lung volume. The relative lung volume-that is, the observed lung volume expressed as a percentage of the predicted lung volume-was then calculated in fetuses with pulmonary hypoplasia. RESULTS: There was no significant difference in mean maternal or gestational age between the two fetus groups. Stepwise regression analysis was used to generate the following equation for predicting fetal lung volume on the basis of independent biometric indexes, with a correlation coefficient of 0.93: TLV = (0.52 . LV) + (0.33 . BD) - (0.06 . FL) - 13.7, with TLV and liver volume (LV) in milliliters and biparietal diameter (BD) and femoral length (FL) in centimeters. In the fetuses with normal chests, relative lung volume varied between 51% and 134%. In the fetuses with pulmonary hypoplasia, relative lung volume varied between 6% and 70%. CONCLUSION: The predicted lung volume in fetuses of a wide range of gestational ages can be calculated with a high degree of accuracy, enabling prenatal MR imaging lung volumetry in which relative lung volume is used to quantify fetal pulmonary hypoplasia.

Adolescent↗

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.

Adult↗

A randomized trial of fetal endoscopic tracheal occlusion for severe fetal congenital diaphragmatic hernia.

BACKGROUND: Experimental and clinical data suggest that fetal endoscopic tracheal occlusion to induce lung growth may improve the outcome of severe congenital diaphragmatic hernia. We performed a randomized, controlled trial comparing fetal tracheal occlusion with standard postnatal care. METHODS: Women carrying fetuses that were between 22 and 27 weeks of gestation and that had severe, left-sided congenital diaphragmatic hernia (liver herniation and a lung-to-head ratio below 1.4), with no other detectable anomalies, were randomly assigned to fetal endoscopic tracheal occlusion or standard care. The primary outcome was survival at the age of 90 days; the secondary outcomes were measures of maternal and neonatal morbidity. RESULTS: Of 28 women who met the entry criteria, 24 agreed to randomization. Enrollment was stopped after 24 patients had been enrolled because of the unexpectedly high survival rate with standard care and the conclusion of the data safety monitoring board that further recruitment would not result in significant differences between the groups. Eight of 11 fetuses (73 percent) in the tracheal-occlusion group and 10 of 13 (77 percent) in the group that received standard care survived to 90 days of age (P=1.00). The severity of the congenital diaphragmatic hernia at randomization, as measured by the lung-to-head ratio, was inversely related to survival in both groups. Premature rupture of the membranes and preterm delivery were more common in the group receiving the intervention than in the group receiving standard care (mean [+/-SD] gestational age at delivery, 30.8+/-2.0 weeks vs. 37.0+/-1.5 weeks; P<0.001). The rates of neonatal morbidity did not differ between the groups. CONCLUSIONS: Tracheal occlusion did not improve survival or morbidity rates in this cohort of fetuses with congenital diaphragmatic hernia.

Adult↗

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.

Fetal Diseases↗

Complications of monochorionic twins.

Sonography has made a dramatic impact on the obstetric management of complicated twin pregnancies. This is based in part on the ability to use prenatal US to diagnose syndromes and complications of MC twinning. All twin pregnancies are at high risk for perinatal morbidity and mortality compared with singleton gestations, but when one of the described complications is recognized, the difficulties in management are compounded dramatically. Despite the relative rarity of some of the entities described, it is vitally important to be familiar with these problems and their sonographic evaluation and diagnosis.

Diseases in Twins↗

Echogenic intracardiac focus: potential for misdiagnosis.

OBJECTIVE: To assess the potential rate of specular reflectors within the fetal heart producing reflections of sufficient amplitude to be mistaken for echogenic intracardiac foci. METHODS: Between July 1999 and December 2000, 200 patients were randomly selected from the University of California, San Francisco, perinatal database who met the following criteria: (1) had singleton pregnancy, (2) delivered at University of California, San Francisco, and (3) had obstetric sonography at University of California, San Francisco, between 18 and 22 weeks' gestation. Bright focal reflections within the heart were judged to be either "true" or "false" echogenic intracardiac foci. RESULTS: In this population of patients who underwent routine obstetric sonography at a tertiary care hospital, the rate of true echogenic intracardiac focus cases was 11 per 200 (5.5%). The rate of false echogenic intracardiac focus cases was 34 per 200 (17%). The most common locations for identification of a spurious echogenic intracardiac focus were the endocardial cushion, the moderator band, and the tricuspid valve annulus. CONCLUSIONS: A specular reflection from the moderator band was judged the false echogenic intracardiac focus most likely to fool examiners. The rate of specular reflection from the moderator band was 11 per 200 (5.5%). Because it is possible to generate a specular reflection from an interface in the fetal heart in virtually any patient, it is important to exercise caution before diagnosing an echogenic intracardiac focus.

Adult↗

Adverse birth outcomes in relation to prenatal sonographic measurements of fetal size.

OBJECTIVE: To evaluate and quantify the prediction of multiple neonatal outcomes by sonographically estimated fetal weight across a broad range of gestational ages. METHODS: A retrospective cohortanalysis was conducted among women with certain gestational age (n = 1,376) seen at the University of California San Francisco from 1994 through 1997. The relative risks for small size at birth, small (low birth weight) for gestational age, and adverse neonatal outcomes were compared between small and average-sized fetuses. RESULTS: Fetuses with an estimated fetal weight in the 5th percentile or less for gestational age were at increased risk of a birth weight less than 2,000 g (relative risk, 6.5), a birth weight in less than the 3rd percentile for gestational age (relative risk, 10.1), preterm birth (relative risk, 2.2), extreme preterm birth (relative risk, 5.7), prolonged neonatal hospital stay (relative risk, 2.7), neonatal intensive care unit admission (relative risk, 3.2), and stillbirth or neonatal death (relative risk, 7.7) compared with average-sized fetuses (all P < .0001). With intrauterine growth restriction defined as an estimated fetal weight in the 5th percentile or less for gestational age, up to 29% of fetuses with adverse neonatal outcomes were detected, for false-positive rates of only 4% to 5%. After adjusting for confounding variables, low estimated fetal weight remained a significant predictor of neonatal morbidity and mortality. CONCLUSIONS: Morbidity and mortality are significantly increased among fetuses with an estimated fetal weight in the 5th percentile or less for gestational age.

Adult↗

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.

Adult↗

The neonatal diaphragmatic crura are hypertrophied: a necessary preparation for the first breath?

OBJECTIVE: To sonographically show that the neonatal crura are markedly hypertrophied. METHODS: Fifty patients in each of 2 groups, ages 0 to 2 months and 18 to 40 years, were randomly chosen from patients who recently underwent abdominal sonography. A single longitudinal plane of a section was used to measure both the anteroposterior diameter of the aorta and the diaphragmatic crus. The ratios of these were compared in the 2 groups. RESULTS: A significant difference was shown between the sizes of the diaphragmatic crura of the neonate and the adult when the aorta was used as an internal standard of size variability. The mean ratio of the aorta to the right crus in neonates was 2.95, and in young adults it was 1.04 (P < .0001). CONCLUSIONS: The neonatal crura are hypertrophied at birth, likely to allow the markedly atelectatic and fluid-filled lungs to fully expand in relatively few breaths.

Adolescent↗