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Biomedical subjects

R A Filly

Publications and source records attributed to R A Filly.

At least 91 records · Page 5Linked to original sources
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↗
PubMed1990

Osteogenesis imperfecta type II: prenatal sonographic diagnosis.

Sonograms of fetuses at risk for congenital lethal osteogenesis imperfecta (osteogenesis imperfecta type II) were retrospectively reviewed blindly and correlated with pregnancy outcomes. Six of eight cases of type II osteogenesis imperfecta were correctly diagnosed with use of the proposed criteria of multiple fractures, demineralization of the calvaria, and femoral length more than 3 standard deviations below the mean for gestational age. The two cases not diagnosed had sonographic abnormalities but did not meet all three criteria. Among 18 pregnancies genetically at risk for the disease but with normal outcomes, all sonograms were normal, meeting none of the proposed criteria. Among an additional 25 fetuses with osteochondrodysplasias, no case satisfied all three of the proposed diagnostic criteria. With use of strict standards for the diagnosis of type II osteogenesis imperfecta, this disease can be distinguished from other fetal skeletal abnormalities. In a pregnancy at risk for recurrence of osteogenesis imperfecta, a normal sonogram after 17 weeks excludes this lethal condition.

Female↗
PubMed1990

Mild lateral cerebral ventricular dilatation in utero: clinical significance and prognosis.

The medical records of 55 fetuses with sonographically diagnosed mild ventriculomegaly (MVM) were reviewed to assess prognosis. Fetuses were divided into two groups based on the presence or absence of sonographically detected associated fetal anomalies: 13 had no other anomalies detected (isolated MVM), and 42 had concomitant neural axis and visceral anomalies (nonisolated MVM). Mortality was 83% among fetuses with nonisolated MVM and 38% among fetuses with isolated MVM (P less than .005). If terminated pregnancies are excluded, only one of nine (11%) fetuses with isolated MVM died, compared with nine of 16 (56%) fetuses with nonisolated MVM (P less than .005). There are 15 living children: Nine (60%) are developmentally normal at 6-30 months of follow-up (six had isolated MVM), three (20%) are or are likely to be abnormal, and we were unable to follow up three (20%). Fetal anomalies were missed in 11 of 30 (37%) fetuses with detailed follow-up. However, this would have changed the classification from isolated to nonisolated MVM in only one case. Thus, in 54 of 55 cases (or 29 of 30 cases with detailed follow-up), fetuses were accurately classified as having isolated or nonisolated MVM. The authors conclude that sonographically isolated MVM is associated with a significantly better prognosis than nonisolated MVM, and fetuses can be classified accurately based on prenatal sonograms.

Abnormalities, Multiple↗
PubMed1990

Conjoined twins: prenatal diagnosis and assessment of associated malformations.

Prenatal diagnosis of conjoined twins is difficult and was rarely accomplished prior to the advent of sonography. Early prenatal diagnosis and assessment for shared vital organs are desirable for optimal obstetrical counseling and management. The authors retrospectively reviewed prenatal findings in 14 cases of conjoined twins. Thoracoomphalopagus was the most common type of conjoining, occurring in five cases (36%). Prenatal sonography showed shared hearts in nine (64%) cases, indicating severe conjoining and negligible chance for postnatal correction. Two sets of omphalopagus conjoined twins had separate hearts; however, severe congenital heart disease was present. Early prenatal diagnosis and assessment of the degree of conjoining provided couples with the option for pregnancy termination via vaginal delivery. In this series, nine patients elected pregnancy termination prior to 24 weeks and delivered vaginally. Transvaginal ultrasound significantly improved the delineation of conjunction in two patients, and computed tomography permitted the diagnosis to be confirmed in two patients.

Diagnostic Errors↗