Prenatal diagnosis of schizencephaly.
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Brain↗
Biomedical subjects
D R Cyr
Publications and source records attributed to D R Cyr.
The fetal genitourinary tract.
Early recognition of fetal urinary tract anomalies may dramatically influence obstetric or neonatal management. Major fetal urinary abnormalities, including renal agenesis, obstructive lesions, and cystic disease, may be clinically silent but readily identified by sonography. Careful evaluation of the fetal genitourinary tract should therefore be an important component of the routine screening obstetric sonogram. Appreciation of normal sonographic appearances of the fetal genitourinary tract may facilitate early recognition of the abnormal fetus. Accurate prenatal sonographic characterization of a renal abnormality and evaluation of renal function are essential for fetal prognosis and management.
Constriction, Pathologic↗
Disparity of amniotic fluid volume and fetal size: problem of the stuck twin--US studies.
The "stuck twin" phenomenon in monochorionic diamniotic (MCDA) pregnancies is characterized by marked disparity in both fluid volume and fetal size between the twin gestations. To determine the prevalence, sonographic characteristics, and clinical outcome of this phenomenon, discharge summaries, placental pathologic reports, and prenatal sonograms from 307 twin pregnancies were reviewed. Of 52 cases of MCDA pregnancies, 18 (35%) demonstrated marked disparity in amniotic fluid volume. In 16 of these 18 cases there was discordant twin growth, further suggesting the diagnosis of twin transfusion syndrome. All 16 cases and an additional nine cases supplied by another center demonstrated a small, morphologically normal fetus in an oligohydramniotic sac suspended anteriorly (72%) or laterally (28%) in the uterus. The amniotic membrane separating this twin from the larger twin in the polyhydramniotic sac was thin, closely applied to the smaller fetus, and difficult to detect. Perinatal morbidity was 100% for all twin pairs, and premature labor occurred in all cases. Perinatal mortality ranged from 88% for the larger/poly twin to 96% for the small/oligo twin.
Adult↗
Evaluation of normal erectile function with color flow Doppler sonography.
To understand better the vascular events that occur during normal erection, we used color flow Doppler sonography to examine the erectile process in seven normal subjects. The relationship of systolic/diastolic velocities and spectral waveform changes in the penile arteries was studied in response to increasing pressure within the corpora cavernosa (tumescence) before and after the intracorporal administration of drugs to induce erection. A characteristic spectral waveform pattern was identified throughout the erectile cycle, and the pattern was correlated with increasing pressure. Both systolic and diastolic velocities were elevated during the initiation of erection, at which time the pressure within the corpora cavernosa was low (11-25 mm Hg). Systolic velocities remained elevated until the last phase of erection (83-106 mm Hg). Diastolic velocity decreased as the intracorporal pressure increased from 25 to 40 mm Hg. Between 40 and 63 mm Hg, diastolic velocity approximated zero. With increasing pressure (63-83 mm Hg), diastolic flow reversed. As the corpora cavernosa approached full erection (83-105 mm Hg), both the forward systolic and reverse diastolic flow components diminished. At approximately 106 mm Hg (systolic occlusion pressure), flow ceased. Systolic/diastolic velocity and waveform phase relationships could be used to define the integrity of both the cavernosal artery inflow and the venous sinusoidal outflow occlusion mechanisms. Color flow Doppler sonography enhanced our ability to observe and quantify dynamic erectile events and provided new insights into understanding normal erectile function.
Adult↗
Rectosigmoid endometriosis. Diagnosis using endovaginal sonography.
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Adult↗
Choroid plexus cysts in fetuses with trisomy 18.
An association between fetal choroid plexus cysts and trisomy 18 has been suggested. However, the prevalence of such cysts in aneuploid fetuses is unknown. To determine this frequency, we studied 14 fetuses with trisomy 18 examined at the Central Laboratory for Human Embryology. Five fetuses were found to have choroid plexus cysts on postmortem ultrasound examination. All those with cysts were earlier than 26 weeks in gestation, and the prevalence among second-trimester fetuses was 71.4%. In contrast, such cysts are reported in less than 1% of the general population of second-trimester fetuses. Thus, choroid plexus cysts are common in trisomy 18, and the finding of such cysts on a second-trimester ultrasound examination should suggest further evaluation, including chromosome analysis.
Choroid Plexus↗
Exencephaly--clinical and ultrasonic correlation to anencephaly.
The antenatal sonographic diagnosis of exencephaly in four gestations is reported. Exencephaly is an uncommon malformation of the cranium that characteristically involves a large, disorganized mass of cerebral tissue. The flat bones of the calvaria are absent, leaving the brain mass uncovered. Secondarily, anencephaly may develop as a result of prolonged exposure of the developing encephalon to amniotic fluid and trauma in utero. As in anencephaly, facial structures and the bony base of the calvarium are often preserved in exencephaly. Sonographically, the outstanding feature of exencephaly is the cerebral mass, with convolutions or "pseudo" sulcal patterns present. These findings correlate well with the pathologic examination and define a clinical entity that is incompatible with human life.
Anencephaly↗
Fetal rhombencephalon: normal US findings.
Using ultrasound (US), the authors examined 25 embryos that were 8-10 menstrual weeks old for gestational age and the presence of a small cystic structure (3-4 mm) in the posterior aspect of the cranium. This structure was seen in all embryos. The US images of an in vitro embryo at 8 weeks menstrual age were also evaluated for anatomic correlation. Analysis of these US images determined that the cystic structure was the open rhombencephalon or hindbrain. Follow-up US studies or postpartum clinical examinations of the 25 in utero embryos demonstrated no abnormal posterior cranial cystic structures or neurologic deficits. This first-trimester structure should be considered a normal finding, since it develops into the normally proportioned fourth ventricle after the 11th menstrual week.
Female↗
The Dandy-Walker malformation prenatal sonographic diagnosis and its clinical significance.
To determine the usual sonographic findings and clinical significance of the Dandy-Walker malformation (DWM) identified in utero, we reviewed seven proven cases diagnosed by prenatal ultrasound during a 6-year period. All patients demonstrated complete or partial absence of the cerebellar vermis and a posterior fossa cyst. Other central nervous system (CNS) findings included hydrocephalus (five cases) and agenesis of the corpus callosum (one case). Extra-CNS abnormalities were prospectively identified in 3 of 4 fetuses with multiple anomalies. Chromosomal analysis was performed on all four fetuses with multiple extra-CNS anomalies, yielding 2 abnormal karyotypes (trisomy 18 and mosaic trisomy 13). Fetal mortality was directly dependent on the presence of extra-CNS anomalies. Five fetuses ultimately died, including all four with multiple extra-CNS anomalies. The remaining two patients are alive at 1.5 and 6 years of age. We conclude that DWM has a distinctive sonographic appearance that can be identified by prenatal ultrasound and that identification of DWM should initiate a careful search for concurrent anomalies as well as consideration of chromosomal analysis.
Abnormalities, Multiple↗
Prenatal diagnosis of an intrapericardial teratoma. A cause for nonimmune hydrops.
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Edema↗
Prenatal diagnosis of agenesis of the corpus callosum.
The prenatal sonographic findings in seven cases of agenesis of the corpus callosum (AGCC) are reported. Findings that suggest AGCC on standard transverse views of the fetal cranium are emphasized. All seven cases demonstrated ventricular abnormalities including four fetuses (57%) who demonstrated laterally displaced lateral ventricles and/or disproportionate enlargement of the occipital horns. Two additional fetuses demonstrated a large midline fluid collection, representing a dilated third ventricle. The remaining case demonstrated atypical findings of a septated periventricular cystic mass. Following birth, additional malformations were found in 5 of the 7 fetuses (71%), including one fetus with trisomy 8. We conclude that AGCC can be suggested on the basis of prenatal sonographic findings and that awareness of typical findings should permit more frequent detection of this anomaly in utero. Due to the frequency of concurrent anomalies, identification of AGCC should initiate a careful search for additional malformations.
Agenesis of Corpus Callosum↗
Intraperitoneal fetal transfusion under direct ultrasound guidance.
The outcomes of 77 fetal intraperitoneal transfusions in 35 pregnancies managed with direct ultrasound guidance and intensive perinatal management were reviewed. Patients were monitored with amniocentesis, and standard indications were used for timing of transfusions. The mean gestational age at first transfusion was 27.3 weeks (range 22-33). The overall mortality rate was 14% (five of 35). No immediate transfusion-related deaths occurred; all fetuses who were not hydropic at first transfusion survived (26 of 26). The mean gestational age at delivery was 33.6 weeks (range 25-36). One infant developed respiratory distress syndrome (RDS). Transfusion-related complications occurred in five cases (fetal colon infusions in two, fetal retroperitoneal infusion in two, and fetal abdominal wall hematoma in one). None of these infants required urgent delivery or suffered long-term sequelae. In nonhydropic fetuses, intraperitoneal transfusions under direct ultrasound guidance had a low incidence of morbidity and no mortality. These results should provide baseline data against which to compare new techniques, such as direct cord transfusion. With neonatal mortality rates of 10% and significant morbidity rates of 10-20% in infants delivered at 32 weeks who develop RDS, intraperitoneal transfusion should be considered in the 32- to 33-week fetus with marked pulmonary immaturity.
Amniocentesis↗
Perinatal management of gastroschisis.
Fetal anterior abdominal wall defects will be recognized with increasing frequency with the widespread use of maternal serum alpha-fetoprotein screening. A clear distinction must be made between omphalocele and gastroschisis, and counseling and obstetric management must be specific for each. Sixteen cases of gastroschisis were identified antepartum and followed through delivery between 1980-1986. There was one antepartum fetal death before institution of a protocol to deliver all such affected fetuses at 36 weeks. One patient was lost to follow-up. There were no antenatal or neonatal deaths among the 14 infants seen subsequently, all of whom were delivered by cesarean section. Only one infant had an additional nongastrointestinal defect (mild hearing loss), and all 14 were of appropriate weight for gestational age. Twelve infants had a single operative procedure for repair of the defect, with a mean hospital stay of 19.6 days. Scheduled cesarean delivery at 36 weeks, after confirmation of fetal lung maturity, presents the infant to the pediatric surgeon under controlled conditions and shortens neonatal hospital stay.
Cesarean Section↗
Efficacy of thromboresistant umbilical artery catheters in reducing aortic thrombosis and related complications.
Previous in vitro and in vivo reports suggest that catheters constructed of polyurethane with heparin bonded to the surface (HB-PU) are less thrombogenic than catheters made of polyvinyl chloride (PVC). A randomized trial sufficiently large (power 80%) to detect a reduction in the incidence of umbilical artery (UA) catheter complications, including aortic thrombus formation, from 45% to 20% was conducted in 125 infants. The infants were monitored for complications possibly related to the use of a UA catheter, such as systemic hypertension and abnormalities of lower extremity perfusion. The presence of aortic thrombi was assessed by ultrasound study 3.5 +/- 1.2 (SD) days and 11.1 +/- 2.3 days after insertion of the catheter. The use of HB-PU umbilical catheters did not lead to a significant reduction in the incidence of complications and aortic thrombi compared with the use of PVC catheters. The lack of reduction may have been related to the prolonged duration of catheter use in both groups. A much larger study would have been required to detect a smaller, but perhaps clinically significant, reduction in catheter-associated complications.
Aorta↗
Placental abruption and placental hemorrhage: correlation of sonographic findings with fetal outcome.
Sixty-nine cases of placental abruption and placental hemorrhage detected with ultrasonography (US) were reviewed retrospectively to determine whether US findings correlate with fetal outcome. Four patients were lost to follow-up, and in the remaining 65 patients fetal outcome included demise in 12 cases (18%), termination of pregnancy in six (9%), premature delivery of a living infant in 15 (23%), term delivery of an infant who was small for gestational age in four (6%), and normal term delivery in 28 (43%). Fetal mortality correlated best with the estimated percentage of placental detachment, but was also significantly (P less than .01) associated with the location (retroplacental) and size (greater than 60 ml) of hemorrhage. Premature labor was associated (P less than .001) only with gestational age at the time of clinical presentation. No sonographic finding was identified as a risk factor for small-for-gestational-age infants. Sonographic findings of placental abruption correlate with fetal outcome, and this information may be useful for guiding obstetric management.
Abruptio Placentae↗
Sonographic spectrum of placental abruption.
Fifty-seven cases of placental abruption detected by sonography were retrospectively reviewed. The location of hemorrhage was subchorionic in 46 cases (81%), retroplacental in nine cases (16%), and preplacental in two cases (4%). Subchorionic hematomas were more frequently shown in the 33 patients presenting before 20 menstrual weeks (91%) than in the 24 patients presenting after 20 weeks (67%). The echogenicity of hemorrhage depended on the time the sonogram was performed relative to the onset of symptoms: Acute hemorrhage was hyperechoic to isoechoic compared with the placenta, while resolving hematomas became hypoechoic within 1 week and sonolucent within 2 weeks. Acute hemorrhage was occasionally difficult to distinguish from the adjacent placenta. This occurred in five retroplacental hematomas that showed only an abnormally thick and heterogeneous placenta. Nine cases of placental abruption were initially confused with other mass lesions. Placental abruption causes a wide spectrum of sonographic findings that may be overlooked or misdiagnosed.
Abruptio Placentae↗
Fetal bowel. Normal sonographic findings.
The normal sonographic appearance of fetal colon and small bowel is reported in a prospective study of 130 fetuses. The colon, which appeared as a continuous tubular structure located around the perimeter of the abdominal cavity, was seen in some fetuses as early as 22 menstrual weeks and in all fetuses examined after 28 weeks. Colon diameter demonstrated a linear relation (r = 0.82) with menstrual age, reaching a maximum of 18 mm at term. In comparison, small bowel was located centrally and individual segments never exceeded 7 mm in diameter or 15 mm in length. Small bowel loops were seen in only 30% of fetuses examined after 34 weeks. Peristalsis was routinely demonstrated of the small bowel, but was not observed in the colon.
Colon↗