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Biomedical subjects

R A Filly

Publications and source records attributed to R A Filly.

At least 55 records · Page 3Linked to original sources

The incidence and spectrum of neurological injury after open fetal surgery.

A preterm infant's immature brain is susceptible to both anoxic and hemorrhagic injury during periods of physiological stress. The advent of in utero surgery has created a new population of premature patients at risk for central nervous system (CNS) injury. The aim of this study was to evaluate the frequency and nature of CNS injuries in fetal surgical patients. Of 33 fetuses with known neurological outcome after fetal surgery, CNS injuries were identified in seven (21%). Of the seven, four had significant episodes of fetal bradycardia (3) or neonatal hypotension (1), which suggests that asphyxia contributed to the neurological injury. The CNS injuries in the other three patients occurred unexpectedly and without associated signs of fetal distress. The authors speculate that these injuries may have been caused by sudden fluxes in cerebral blood flow, induced by maternal hypoxia (1) or by maternally administered tocolytic drugs (2) used to treat postoperative preterm labor.

Bradycardia↗

Prenatal diagnosis of esophageal atresia.

The prenatal sonographic detection of esophageal atresia (EA) has been possible for more than a decade and relies on the finding of a small or absent fetal stomach bubble associated with maternal polyhydramnios. The aims of this study were to assess the accuracy of this technique and to determine whether the outcome of prenatally diagnosed EA differs from its postnatal counterpart. All fetal sonograms performed between January 1989 and October 1993 demonstrating a small or absent fetal gastric bubble were reviewed together with all neonates with EA treated during the same period. Eighty-seven fetuses with a small (n = 53) or absent stomach bubble (n = 34) were identified, representing 1.4% of all fetal sonographic surveys. Esophageal atresia was present in 15; in 13 of these, the maternal amniotic fluid volume was increased. The positive predictive value of an absent stomach bubble and polyhydramnios was 56%, and the sensitivity of prenatal sonography in the diagnosis of EA was 42%. One neonate with EA had the prenatal diagnosis established at another institution, yielding a total of 16 cases of prenatally diagnosed EA for analysis. Seven (44%) of these had trisomy 18. Of the remaining nine, two had isolated EA, two had laryngeal atresia and EA, and there were two late-gestational unexplained fetal deaths. Only four (25%) survived through the neonatal period. The prognosis of the fetus with EA is radically different from that of the neonate with EA.

Esophageal Atresia↗

Fetal diaphragmatic hernia without visceral herniation.

Many cases of congenital diaphragmatic hernia (CDH) are currently detected before birth. The authors hypothesized that there is a subgroup of patients with CDH who have no evidence of visceral herniation in utero and who would be expected to have less pulmonary hypoplasia and a good prognosis. Among 41 neonates with left-sided CDH treated between January 1990 and October 1993, 17 cases were diagnosed after birth. Ten of the 17 had undergone detailed fetal sonographic imaging at or after 20 weeks' gestation. After independent review of the prenatal scans of these 10 patients, one was found to have evidence of a diaphragmatic hernia and was excluded from further analysis. The other nine fetuses survived, and prosthetic repair of the diaphragmatic defect and extracorporeal membrane oxygenation (ECMO) were each required in only one patient. This contrasted with the outcome for 18 control patients with prenatally diagnosed CDH: 4 (22%) died, 13 (72%) required prosthetic repair, 9 (50%) were supported with ECMO and the duration of ventilatory support and hospital stay were significantly longer. There is a spectrum of severity among both pre and postnatally diagnosed cases of CDH. In the neonate with an isolated left-sided diaphragmatic hernia, a good prognosis is to be expected if the condition was not detectable by detailed prenatal sonography in the second half of pregnancy.

Female↗

Prenatally detected fetal myelomeningocele: is karyotype analysis warranted?

PURPOSE: To determine the prevalence of karyotype abnormalities in fetuses with prenatally detected spina bifida and evaluate the ability of prenatal sonography to enable prediction of chromosomal abnormalities. MATERIALS AND METHODS: Sonograms from 63 fetuses with prenatally detected spina bifida were reviewed, and associated sonographic abnormalities were recorded. Sonographic findings were correlated with autopsy or clinical findings when possible. RESULTS: Associated sonographic abnormalities were present in 15 (24%) of fetuses with spina bifida. Among 52 fetuses with known karyotypes, the prevalence of chromosome abnormalities was 17%. Karyotype abnormalities included trisomy 18, trisomy 13, triploidy, and translocation. Twenty-two percent of chromosomally abnormal fetuses had sonographically isolated spina bifida. CONCLUSION: Prenatal sonography can help predict most karyotypically abnormal fetuses with spina bifida, but approximately 20% will be missed with this technique alone in the second trimester. The authors believe cytogenetic analysis is justified in the setting of prenatally detected spina bifida.

Chromosome Aberrations↗

Fetal cerebral ventricular atrium: difference in size according to sex.

PURPOSE: To determine whether the diameter of the fetal lateral ventricular atrium is larger in male than in female fetuses. MATERIALS AND METHODS: The atrial diameter in 219 fetuses retrospectively identified from a consecutive group of healthy newborns was measured without knowledge of the subject's sex. RESULTS: Atrial size demonstrated a near-normal distribution, with mean size for all subjects 6.1 mm +/- 1.3 (standard deviation). When separated by sex, the mean atrial diameter of 122 female fetuses was 5.8 mm +/- 1.3, and the mean atrial diameter of 97 male fetuses was 6.4 mm +/- 1.3. The difference in mean size is statistically significant (P < .005). CONCLUSION: Male fetuses have a slightly larger atrial size than female fetuses. This discovery has implications for defining the upper limit of normal for fetal ventricular atrial size.

Cerebral Ventricles↗

Homozygous achondroplasia: US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester.

PURPOSE: To determine if and at what gestational age prenatal ultrasonography (US) enables distinction between homozygous, heterozygous, and unaffected fetuses when both parents have heterozygous achondroplasia. MATERIALS AND METHODS: Serial US scans of 15 fetuses at 25% risk of homozygous achondroplasia were reviewed retrospectively. Femoral growth curves were established and compared with published standards to determine the gestational age, calculated according to biparietal diameter (BPD), at which femoral length crossed below the 3rd percentile. The presence and severity of achondroplasia were determined clinically after birth. RESULTS: Femoral length crossed the 3rd percentile at 14.0-16.5 weeks BPD age (mean, 15.6 weeks) in the four homozygous fetuses and at 18.2-26.2 weeks BPD age (mean, 21.5 weeks) in the eight heterozygous fetuses. In the three unaffected fetuses, femoral length did not cross percentiles as gestational age increased. CONCLUSION: Establishment of a femoral growth curve in the second trimester with serial US scans enables prenatal distinction between homozygous, heterozygous, and unaffected fetuses when both parents have heterozygous achondroplasia.

Achondroplasia↗

The empty amnion: a sign of early pregnancy failure.

Between 6.5 to 10 weeks of gestation, the length of the amniotic cavity is similar to that of the embryo. It follows that by the time an amniotic sac is detectable sonographically, an embryo of equal length should also be visualized. Retrospective review of case records at our institution revealed 15 patients in whom the amnion was visualized in the absence of an embryonic pole during first trimester sonography (endovaginal and transvesical). Indications for sonographic examination included gestational age estimation, discrepant size and dates, or vaginal bleeding. The mean sac diameter for the 15 gestations ranged from 14 to 36 mm, corresponding to gestational ages of 6.1 to 9.5 weeks. Ages based on the last menstrual period ranged from 6.1 to 11 weeks. A yolk sac was identified in all cases in addition to the amniotic sac, but neither an embryo nor cardiac pulsations were observed. In 12 of the 15 cases the size of the gestational sac was greater than 16 mm, such that the absence of an embryo also met an accepted criterion for a failed pregnancy. Follow-up in all cases confirmed early pregnancy failure. In this series the demonstration of an "empty amnion" (visualization of an amnion but no identifiable embryonic pole) was always associated with pregnancy loss. The "empty amnion" sign is helpful as an additional finding confirming early pregnancy failure.

Abortion, Spontaneous↗

The sonographic appearance of renal transplants during pregnancy.

This study evaluates the sonographic appearance of renal allografts during pregnancy. Baseline and intrapartum sonograms and serum creatinine levels from 19 women with 24 pregnancies were evaluated. In 15 of the 22 pregnancies with more than one examination, renal dilatation increased during gestation. The degree of dilatation was minimal to mild, with moderate dilatation present only in the third trimester. There were no cases of severe dilatation. Change in renal dilatation was seen in eight of eight patients with normal renal function, four of six patients with moderate renal impairment, and in zero of two patients with severe renal impairment. Normal transplant morphology or a single abnormal criterion was found in 23 of 24 pregnancies. Transplant morphology is not affected by pregnancy. Renal allografts in asymptomatic patients frequently demonstrate minimal to mild dilatation during pregnancy. The ability of the transplant kidney to dilate decreases with worsening renal function.

Adult↗

Imaging the fetal abdomen: how efficacious are the AIUM/ACR guidelines?

This study was performed to evaluate the efficacy of the American Institute of Ultrasound in Medicine/American College of Radiology guidelines for the detection of fetal abdominal abnormalities. In Part 1 of the study, images from 100 fetuses with sonographically diagnosed abdominal anomalies were masked except for one view of the abdominal circumference, stomach, renal area, bladder, and cord insertion. Ninety-six cases were recognized as abnormal by two sonologists. In Part 2, sonograms of 70 normal fetuses and 30 abnormal fetuses were similarly masked and shown to a sonographer and a fourth year radiology resident. Each identified 29 of 30 abnormal cases. Among fetuses with abdominal anomalies detectable at a prenatal diagnostic center, the majority of abnormal fetuses could be identified by evaluation of the five AIUM/ACR recommended views.

Abdomen↗

Prenatal sonographic predictors of liver herniation in congenital diaphragmatic hernia.

We conducted a retrospective review of prenatal sonograms of all fetuses (n = 25) with left sided congenital diaphragmatic hernia undergoing in utero surgical repair of the defect at the University of California, San Francisco, Fetal Treatment Center. Sixteen candidates were selected for analysis to determine reliable predictors of liver herniation. Bowing of the umbilical segment of the portal vein (portal sinus) to the left of midline and coursing of portal branches to the lateral segment of the left hepatic lobe toward or above the diaphragmatic ridge were the best predictors for liver herniation into the fetal thorax (positive predictive values of 85% and 100%, respectively). The stomach position was a good predictor if observed in a posterior or midthoracic location (positive predictive value = 100%). However, this occurred in only 7 of 16 (44%) cases. Visibility of the right lung was less informative (positive predictive value = 63%). We do not recommend in utero primary closure of congenital diaphragmatic hernia when there is sonographic evidence of liver herniation into the fetal thorax.

Female↗

Teratogen exposure: lack of morphological abnormalities by detailed fetal sonography.

Teratogen exposures cause 1-2% of congenital abnormalities. Our anecdotal experience was that detailed fetal sonograms conducted for the indication of teratogen exposure failed to demonstrate significant morphological abnormalities. We reviewed our experience to see how often such examinations yielded positive results. Records from 11 September 1989 to 13 September 1993 were reviewed. All women referred for detailed fetal sonography for the sole indication of exposure to drugs, toxins, or infectious agents and with a sonographic age of 16-24 menstrual weeks were included. All exposures were included in the study, even those without known teratogenic potential. Patients previously diagnosed with a morphological abnormality or with an abnormal level of maternal serum alpha-fetoprotein were excluded.A total of 125 women with 126 singleton pregnancies comprised the study population. Ten women had multiple exposures. Including the multiple exposures, there was a total of 138 exposures, 104 to drugs and other toxins (45 of which were not known human teratogens), and 34 to infections. The only significant morphological abnormality found was a duplicated kidney in a woman with parvovirus exposure. While parvovirus is a cause of anemia and hydrops, it is not a known human teratogen. We therefore assume that this was a coincidental association. We conclude that teratogen exposure is a low-yield indication for detailed fetal sonography.

Journal Article↗

Congenital high airway obstruction syndrome (CHAOS): a potential for perinatal intervention.

Congenital high airway obstruction syndrome (CHAOS) results in a predictable constellation of findings: large echogenic lungs, flattened or inverted diaphragms, dilated airways distal to the obstruction, and fetal ascites and/or hydrops. The authors report on four fetuses referred for evaluation. None of them survived. Postmortem evaluation showed that three fetuses had laryngeal atresia, and one had tracheal stenosis. Coexistent fetal anomalies were accurately diagnosed by ultrasound in three of the four patients. The finding of CHAOS on prenatal ultrasound examination is diagnostic of complete or near-complete obstruction of the fetal upper airway, most likely caused by laryngeal atresia. A greater understanding of the natural history of CHAOS may permit improved prenatal and perinatal management.

Adult↗

Prevalence of ventriculomegaly in association with myelomeningocele: correlation with gestational age and severity of posterior fossa deformity.

PURPOSE: To investigate the relationship of ventriculomegaly (VM) with gestational age (GA) and the severity of the associated Chiari II malformation. MATERIALS AND METHODS: The sonograms of 51 fetuses with myelomeningoceles were retrospectively reviewed. VM was judged to be present when the transverse ventricular atrial diameter was greater than 10 mm. The severity of the posterior fossa (PF) deformity was subjectively graded as mild, moderate, or severe. Thirty-four fetuses were scanned at < or = 24 weeks GA, and 17 were scanned at > 24 weeks GA. RESULTS: The prevalence of VM was 61%. However, only 44% of fetuses < or = 24 weeks GA had VM, whereas 94% of fetuses > 24 weeks GA had VM. When compared with fetuses with mild PF deformities, fetuses with moderate or severe deformities had a higher prevalence of VM and the largest ventricles. CONCLUSION: The prevalence of VM in fetuses with myelomeningoceles varies with both GA and the severity of the associated PF deformity. These observations may provide additional prognostic information once a myelomeningocele is detected at sonography.

Arnold-Chiari Malformation↗

Sonographic detection of inferior vermian agenesis in Dandy-Walker malformations: prognostic implications.

PURPOSE: To compare the prognoses for fetuses with sonographically detected inferior vermian agenesis (IVA) or complete vermian agenesis (CVA). MATERIALS AND METHODS: The sonograms of 65 fetuses with Dandy-Walker malformations were retrospectively reviewed. Fetuses were divided into two groups--those with IVA and those with CVA. RESULTS: Of the 65 fetuses, 37 had IVA; 28, CVA. Thirteen (20%) of the 65-nine (24%) of the 37 with IVA and four (14%) of the 28 with CVA--lived for longer than 1 year. Chromosomal abnormalities were found in 23 (45%) of the 51 fetuses tested for karyotypic abnormalities or clinically thought to have Down syndrome. Seventeen (53%) of the 32 with IVA and six (32%) of the 19 with CVA that were tested for karyotypic abnormalities or clinically thought to have Down syndrome had chromosomal abnormalities (P = .07). Associated morphologic abnormalities were prenatally detected in 49 (75%) of the 65-in 28 (76%) of the 37 with IVA and in 21 (75%) of the 28 with CVA. CONCLUSION: The overall guarded prognosis is similar for fetuses with Dandy-Walker malformations for whom IVA or CVA has been sonographically diagnosed. Fetuses with IVA have a higher prevalence of karyotypic abnormalities.

Abnormalities, Multiple↗

Sonography of ovarian masses: poor sensitivity of resistive index for identifying malignant lesions.

OBJECTIVE: Current research suggests that the resistive index of adnexal masses is a sensitive measure for distinguishing between benign and malignant ovarian masses. We devised a study to determine how morphologic findings on sonograms compare with the resistive index of benign and malignant lesions. SUBJECTS AND METHODS: Pelvic sonograms were obtained in 34 women with 36 adnexal masses that were likely neoplastic or non-self-limiting (such as an endometrioma). Transabdominal and transvaginal sonograms were obtained, and the resistive index was calculated. A threshold resistive index of 0.4 was used to differentiate benign from malignant lesions. Masses were characterized prospectively as probably benign or possibly malignant on the basis of their sonographic appearance. Pathologic proof was obtained for 35 masses, and one mass was diagnosed on the basis of CT findings. RESULTS: Seventeen lesions were deemed probably benign, and pathologic examination showed that all 17 were benign. The resistive index was greater than 0.4 in 14 of these 17 cases. Nineteen lesions were characterized as possibly malignant. On pathologic examination, six were benign neoplasms, five were nonneoplastic masses, and eight were malignant neoplasms. The resistive index was greater than 0.4 in 10 of the 11 benign lesions. It was less than 0.4 in only two of the eight lesions that were classified as malignant on the basis of both morphologic and pathologic findings. CONCLUSION: Sonography is sensitive but not specific for distinguishing between benign and malignant ovarian neoplasms. Although use of the resistive index might improve specificity in the assessment of possibly malignant lesions, reliance on this parameter is potentially misleading, as six of eight malignant lesions in this series were miscategorized on the basis of their resistive index.

Adult↗

Anatomic and sonographic features of the fetal skull.

This article reviews developmental skull anatomy, especially as it relates to the formation of cranial sutures and fontanelles, and demonstrates the appearance of these structures on prenatal sonograms, illustrating the framework these structures provide to enable one to accurately identify components of the fetal skull. Examples are provided to illustrate the utility of this knowledge. An understanding of fetal skull development and appearance enables the sonographer to better characterize fetal cranial abnormalities. More importantly, recognition of the location of cranial sutures and fontanelles and their ability to serve as acoustic windows assists the sonographer in evaluation of the fetal brain.

Brain↗

The normal location of the fetal conus medullaris.

In vivo studies of the location of the normal conus medullaris in infancy and childhood have been extended to the fetus utilizing sonography. This prospective study of 33 fetuses showed that the fetal conus medullaris can be visualized in the prone fetus as early as 19 menstrual weeks. By the time the conus medullaris was observed sonographically, its location was within the normal adult range, thus refuting the commonly held notion that the conus medullaris ascends to adult levels sometime in childhood. Our results suggest that a fetal spinal cord termination level of L2-L3 or higher should be considered within normal limits. A termination level of L3 is indeterminate and requires neonatal evaluation. A termination level of L3-L4 or lower is abnormal and should instigate a careful sonographic search for associated abnormalities.

Adult↗