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Biomedical subjects

R A Filly

Publications and source records attributed to R A Filly.

At least 19 recordsLinked to original sources
PubMed1992

Outcome of antenatally diagnosed cystic adenomatoid malformations.

OBJECTIVE: Twenty-two cases of antenatally diagnosed congenital cystic adenomatoid malformations are reported. STUDY DESIGN: Case management is reviewed. RESULTS: Eighteen women continued pregnancy after diagnosis. In nine cases nonimmune hydrops fetalis did not develop and all infants survived. Nonimmune hydrops fetalis developed in the other nine; fetal intervention was performed in eight cases. In the single case of nonimmune hydrops fetalis without intervention, the neonate died. In four cases aspiration of macrocystic lesions was performed. In two cases cystoamniotic shunts were placed. Neither aspiration or shunting provided long-term benefit. In six cases fetal lobectomy was ultimately performed and four survived. Two fetuses did not undergo in utero surgery; one was delivered prematurely after cyst aspiration and lived, and the other previable fetus was delivered soon after shunting. CONCLUSIONS: Fetal survival is best related to development of nonimmune hydrops fetalis. Aspiration of cystic lesions and cystoamniotic shunts generally provide short-term benefit. Early experience with fetal surgery for congenital cystic adenomatoid malformations has been encouraging.

Cystic Adenomatoid Malformation of Lung, Congenita↗
PubMed1992

Prenatally detected myelomeningoceles: sonographic accuracy in estimation of the spinal level.

The sonograms and case records of 53 patients with prenatally detected myelomeningoceles were retrospectively reviewed. Sonographic findings were correlated with pathologic, surgical, and/or radiographic findings in 28 cases. Fourteen mothers chose to continue their pregnancies, and the level of neuromotor deficit was available for 11 children of this group. The sonographic and pathologic levels were in agreement in 18 of 28 cases (64%) and were within one spinal level in 22 of 28 cases (79%). The pathologic level of the lesion was underestimated (sonographic level lower than pathologic) in three fetuses and overestimated (sonographic level higher than pathologic) in another three. In 10 of 11 living children (91%) the neuromotor level was equal to or better than the anatomic level. The authors conclude that ultrasonography can, in most cases, allow accurate prediction of the level of the spina bifida lesion and the severity of neuromotor handicap in children with prenatal diagnoses of myelomeningocele.

Female↗
PubMed1992

Correlation between omphalocele contents and karyotypic abnormalities: sonographic study in 37 cases.

To evaluate the observation that fetuses with omphaloceles containing only bowel have an especially high prevalence of karyotypic abnormalities, we retrospectively reviewed the sonograms and case records of 37 fetuses with omphaloceles detected sonographically between 1984 and 1990. Nine fetuses had concomitant morphologic abnormalities characteristic of the amniotic band syndrome. Of the remaining 28 fetuses, karyotypic correlation was available in 22, and the karyotype was abnormal in five of these (23%). The omphaloceles contained liver in 22 fetuses and only bowel in six fetuses. Among fetuses with exteriorized liver, karyotypes were abnormal in one (6%) of 16 tested. In contrast, four (67%) of the six fetuses whose omphaloceles contained only bowel had abnormal karyotypes; for each of these four, sonograms showed morphologic abnormalities in addition to the omphalocele. In the two fetuses with bowel-only omphaloceles and normal karyotypes, the omphalocele was the only abnormality seen on sonograms, and these children are well after surgical repair. When fetuses with the amniotic band syndrome were excluded, sonograms showed concomitant anomalies in 15 fetuses with liver-containing omphaloceles, and the karyotype was abnormal in only one of these 15. The results of this study support previous observations that karyotypic abnormalities are more common in association with omphaloceles that contain only bowel compared with those that contain only liver. If we combine our data with data from three other studies that address this issue, 87% of fetuses with omphaloceles containing only bowel had an abnormal karyotype, a significantly higher rate than in those fetuses whose omphaloceles contained liver also (9%).

Amniotic Band Syndrome↗
PubMed1992

The "lying down" adrenal sign: a sonographic indicator of renal agenesis or ectopia in fetuses and neonates.

An inability to image the kidneys, severe oligohydramnios, and an empty (nonvisualized) urinary bladder are the most common sonographic findings in fetuses with renal agenesis. The same features, except for the oligohydramnios, are seen in neonates with renal agenesis. Failure to visualize a kidney in the usual flank location with or without demonstration of the kidney in an ectopic location may also be a feature in fetuses or neonates with renal ectopia. The adrenal gland has an unusual but distinctive appearance on longitudinal sonograms in these patients. Sonograms of 23 fetuses and six neonates referred for presumed bilateral or unilateral renal agenesis or ectopia were reviewed retrospectively for the presence of a flattened ("lying down") adrenal gland. At the time of the examination, the adrenal gland was not actively sought as a part of the fetal survey or postnatal examination but was found retrospectively in 48% of these subjects. Although this finding has been described previously, the emphasis was on this observation as a potentially confusing sonographic feature. This manuscript emphasizes the characteristic appearance of the adrenal gland which instead serves as a simple means of confirming that the kidney did not develop in the flank. Detection of a flattened ("lying down") adrenal gland is an observation that should be actively sought in all fetuses and neonates with a presumed diagnosis of renal agenesis or ectopia.

Adrenal Glands↗
PubMed1992

The choroid plexus pseudocyst: sonographic identification and characterization.

Amniocentesis has been advocated by some authors when fetal choroid plexus cysts are discovered, because of their reported association with karyotype abnormalities. We have noted an oval hypoechoic structure projecting into the adjacent choroid plexus, which simulates a cyst when imaged across its short axis, in 39 of 50 consecutive fetuses. This presumably normal structure or pseudocyst may represent the corpus striatum. Knowledge of its existence and benign nature will help avoid diagnostic errors and unnecessary amniocenteses.

Amniocentesis↗
PubMed1991

Maternal outcome after open fetal surgery. A review of the first 17 human cases.

A few fetal diseases may benefit from surgical treatment before birth, but hysterotomy and subsequent delivery by cesarean section pose a risk to the otherwise unaffected mother. To assess maternal risk of mortality, morbidity, and reproductive potential after fetal surgery, we reviewed our experience with 17 highly selected women who underwent fetal surgery. Fifteen of these procedures were performed for one of two congenital anomalies: severe bilateral hydronephrosis and congenital diaphragmatic hernia. There were no deaths or serious maternal injuries. In the 14 women who continued pregnancy after hysterotomy, uterine irritability and preterm labor were frequent complications, requiring early confinement in most cases. There has been no detectable effect on future fertility, as indicated by eight subsequent normal pregnancies. We conclude that hysterotomy for fetal surgery can be accomplished without unduly endangering the mother's life or her future reproductive potential. However, morbidity related to premature labor remains a serious problem, and our ability to control uterine contractions after hysterotomy remains the limiting factor in human fetal surgery.

Adolescent↗
PubMed1991

Prognosis of fetuses with a cystic hygroma.

This paper reports our experience with 55 fetuses identified in utero to have a cystic hygroma. The outcome of fetuses with an isolated cystic hygroma, cystic hygroma with non-immune hydrops, and cystic hygroma with multiple anomalies was evaluated. Approximately two-thirds of karyotypes were aneuploid, and a strong association of septation and aneuploidy existed. Only five cases, four of which had isolated hygromas, came to term and resulted in live births. Two of these involved small non-septated lesions which resolved in utero.

Adolescent↗
PubMed1991

Fetal cephaloceles: diagnosis with US.

The prenatal sonograms of 15 fetuses with cephaloceles (13 occipital, one ethmoidal, and one frontoparietal) were retrospectively reviewed. The prognosis for fetuses with cephaloceles was poor: Only three of 14 with follow-up were born alive (21%), and all are likely to be handicapped. Karyotypes were abnormal in four of nine fetuses tested (44%). Associated cranial abnormalities observed in various numbers of fetuses included ventriculomegaly, the "lemon" sign, a flat basioccipital, "beaked" tectum, and bone defect. A wide variety of neural and nonneural anomalies were associated with cephaloceles. At least one sonographically observed concomitant neural or nonneural axis abnormality or an abnormal karyotype was present in nine of 15 fetuses (60%). Some associated neural malformations noted pathologically were not observed prenatally. Cranial meningoceles were not accurately distinguished from encephaloceles sonographically, and they also were associated with a poor prognosis. Comparison of findings in fetuses with cephaloceles with those of 15 fetuses with cystic hygromas revealed that the two abnormalities can usually be distinguished by the relationship of the mass with the neck and by other cranial findings present in fetuses with cephaloceles but absent in association with cystic hygromas.

Abnormalities, Multiple↗
PubMed1991

Effect of measurement errors on sonographic evaluation of ventriculomegaly.

Ventriculomegaly is a sensitive indicator of maldevelopment of the fetal brain and spinal cord. The fetal ventricular atrium is an optimal portion of the lateral ventricular system to measure in order to judge ventriculomegaly. We tested the susceptibility of this measurement to inaccuracies created by errors in cursor placement or improper selection of the plane of section for measurement in 52 normal fetuses. This measurement was shown to be reasonably insensitive to errors in cursor placement along the axis of the ventricular system. However, choice of an off-axis image plane of section, an angled measurement, or improper choice of ventricular boundary leads to a relatively large number of false-positive test results (approximately 10%). None of the simulated errors in atrial measurements underestimates the size of the ventricle, and thus, they are unlikely to result in a diminution of test sensitivity.

Central Nervous System↗
PubMed1990

Antenatal intervention for congenital cystic adenomatoid malformation.

In 2 fetuses with congenital cystic adenomatoid malformation (CCAM) with hydrops, in-utero resection of the enlarged pulmonary lobe reduced mediastinal shift and allowed expansion of normal lung tissue in both cases. In case 1, the 27-week-gestation fetus died from severe hydrops after premature delivery. In case 2, fetal CCAM resection was completed at 23 weeks' gestation. At 30 weeks a girl was delivered with no evidence of pulmonary hypoplasia. Fetal surgery can now be entertained for otherwise fatal space-occupying intrathoracic lesions.

Adult↗
PubMed1990

Fetal intervention in obstructive uropathy: prognostic indicators and efficacy of intervention.

Management of the fetus with bilateral hydronephrosis is controversial; ability to predict outcome and efficacy of prenatal intervention are unknown. We studied 40 fetuses referred for ultrasonography, examination of fetal urine, and possible therapy. We retrospectively assigned fetuses to a good prognosis group if fetal urine was hypotonic (sodium less than 100 mEq/L, chloride less than 90 mEq/L, osmolarity less than 210 mOsm/L) and there was no ultrasonographic evidence of dysplasia; we assigned fetuses to a poor prognosis group if even one criterion was abnormal. Survival was greater in the good prognosis group than in the poor prognosis group (81% vs 12.5%; 87% vs 30%, excluding abortions) (p less than 0.005). We then attempted to assess the efficacy of prenatal urinary decompression by comparing outcome within the good and poor prognosis groups. Survival with intervention was greater in both the good prognosis group and the poor prognosis group (89% vs 70% and 30% vs 0%). In 6 of the 8 survivors in the good prognosis group, severe oligohydramnios was reversed by decompression. We conclude the fetal urine electrolyte levels and ultrasonographic appear helpful in predicting residual fetal renal function and neonatal outcome and that prenatal decompression may prevent the development of fatal pulmonary hypoplasia.

Amniotic Fluid↗
PubMed1990

Correction of congenital diaphragmatic hernia in utero, V. Initial clinical experience.

Review of our experience with 45 cases of prenatally diagnosed congenital diaphragmatic hernia (CDH) confirms that most fetuses (77%) will not survive despite optimal pre- and postnatal care. Polyhydramnios, associated anomalies, early diagnosis, and a large volume of herniated viscera (including liver) are associated with a particularly dismal prognosis. After extensive experimental work demonstrated the efficacy, feasibility, and safety of repair in utero, we attempted to salvage six highly selected fetuses with severe CDH by open fetal surgery. Five had liver incarcerated in the chest: three died at operation because attempts to reduce the liver compromised umbilical venous return. In one, a Goretex diaphragm was constructed around the liver, but the baby died after birth. The last two fetuses, one with incarcerated liver, were successfully repaired. Both demonstrated rapid growth of the lung in utero, had surprisingly good lung function after birth despite prematurity, had the abdominal patch removed at 2 weeks, and subsequently died of nonpulmonary problems (an unrelated nursery accident in one and intestinal complications in the other). The only maternal complication was amniotic fluid leak and preterm labor. All six women are well and four have had subsequent normal children. From this phase I experience, we conclude that fetal surgery appears safe for the mother and her reproductive potential, that fetal CDH repair is feasible in selected cases, and that the fetal lung responds quickly after decompression. However, fetal repair remains a formidable technical challenge.

Adolescent↗
PubMed1990

Cervical cystic hygroma in the fetus: clinical spectrum and outcome.

Cervical cystic hygroma is thought by most pediatric surgeons to be an isolated, usually resectable lesion with an excellent prognosis. However, prenatal sonography has revealed a high "hidden mortality" among fetuses with this condition, and most perinatologists consider it to be uniformly fatal. In an attempt to resolve these two differing perspectives, we analyzed 29 cases seen at two centers over 4 years. Of 27 fetuses diagnosed before 30 weeks' gestation, only one survived. Twenty-five of the 27 were aborted; severe hydrops was present in 21 of these 25. Two of the 27, both with stigmata of Noonan's syndrome, underwent spontaneous regression during the second trimester: one died at 2 weeks of age, and the other survived. Successful karyotypes were obtained on 17 fetuses: nine were normal, seven were 45X, and one was trisomy 21. Fetuses with abnormal karyotypes had a lower incidence of polyhydramnios (0% v 67%), additional anomalies (12% v 67%), and consanguinity or a history of abnormal pregnancies (0% v 89%). Two fetuses were diagnosed after 30 weeks' gestation. Neither had hydrops, polyhydramnios, associated anomalies, or an abnormal karyotype. One had a completely normal sonogram at 17 weeks' gestation. Both were operated on within the first 4 days of life; one did well without complications, and the other required a permanent tracheostomy because of extensive hypopharyngeal involvement. A cystic hygroma presenting in the fetus has a different natural history and prognosis from one presenting postnatally. The vast majority of fetal cases are diagnosed before 30 weeks' gestation, and present with hydrops or diffuse lymphangiomatosis. The dismal outlook in this group justifies elective termination in most cases.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1990

Short-limb skeletal dysplasias: evaluation of the fetal spine with sonography and radiography.

Sonograms and radiographs of the lumbar spine in 51 fetuses and neonates with thanatophoric dwarfism, achondroplasia, and osteogenesis imperfecta type II were retrospectively evaluated. Study data included 27 prenatal and 27 neonatal sonograms and radiographs in 40 fetuses and neonates and 11 cases described in the radiology literature. To precisely compare the sonographic and radiographic appearances of platyspondyly in dysplasia, a simple vertebral ratio was obtained from measurement of vertebral interspace and vertebral body height. Normal ranges were obtained from sonograms in 125 normal fetuses and from radiographs in 55 normal fetuses. The severe platyspondyly of thanatophoric dysplasia and the milder platyspondyly of achondroplasia were detected by about 20 menstrual weeks. The vertebral bodies appeared slightly larger on sonograms than on radiographs in both normal fetuses and fetuses with dysplasia.

Female↗