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Biomedical subjects

J A Estroff

Publications and source records attributed to J A Estroff.

At least 19 recordsLinked to original sources
PubMed2006

Cleft of the secondary palate without cleft lip diagnosed with three-dimensional ultrasound and magnetic resonance imaging in a fetus with Fryns' syndrome.

We present a case of Fryns' syndrome diagnosed prenatally using three-dimensional (3D) ultrasonography and magnetic resonance imaging (MRI). A cleft of the soft palate was diagnosed using 3D thick-slice ultrasonography. Other sonographic findings included a right diaphragmatic hernia, enlarged echogenic kidneys and severe polyhydramnios. The detection of the cleft palate was instrumental in suggesting the diagnosis of Fryns' syndrome in a fetus which also had a diaphragmatic hernia. These findings were also demonstrated with prenatal MRI. The technique of imaging the soft palate en face using a thick-slice technique is presented.

Abnormalities, Multiple↗
PubMed1997

Emergency obstetric and gynecologic ultrasound.

In conclusion, sonography plays a central role in imaging the obstetric and gynecologic emergencies of babies, girls, and adolescents. Transabdominal and transvaginal sonography each have their respective and combined strengths, which depend on the age, size, anatomy, and social and clinical situation of the patient to be imaged. With recent advances in sonographic technology, especially in the current use of higher-frequency transducers and the promise of three-dimensional imaging, we are undoubtedly seeing more anatomy and pathology, and seeing it more clearly. In the sexually mature patient, transvaginal sonography provides an exceptional view of the normal uterus and adnexae and the myriad presentations of pelvic pathology. This article has reviewed the sonographic techniques that can be used in imaging the pediatric and adolescent pelvis, and has emphasized some of the many pathologic conditions that can be elucidated by pelvic sonography.

Adolescent↗
PubMed1995

Prenatally diagnosed bilateral hyperechoic kidneys with normal amniotic fluid: postnatal outcome.

We evaluated a subset of infants with bilateral markedly hyperechoic "bright" kidneys noted prenatally in association with normal amniotic fluid volume during gestation. Prenatal ultrasound showed increased renal parenchymal echogenicity bilaterally with preservation of the medullary pyramid architecture. These children were followed for up to 3 years to determine potential changes in the sonographic appearance of the echogenic renal parenchyma and to assess renal function. In 3 years 8 cases of bilateral hyperechoic fetal kidneys were identified. During postnatal followup renal echogenicity resolved in 4 cases, diminished in 1 and remained the same in 3. The serum creatinine and electrolytes were normal in all cases followed for more than 3 months. Other renal findings included vesicoureteral reflux in 2 of 7 cases, mild pelvic ectasia in 1 and tiny medullary calcifications in 1. The specific etiology of increased echogenicity is unknown, although 1 infant appeared to have a form of autosomal recessive disease with liver hyperechogenicity as well. We conclude that fetuses with bilateral hyperechoic kidneys associated with normal amniotic fluid volume have a favorable outcome. Ultrasonographic finding of marked parenchymal hyperechogenicity appears to improve with time; in our experience renal function is normal and the infants thrive. Continued followup is necessary to determine the long-term natural history of this phenomenon, as is subsequent prenatal and postnatal evaluation of future siblings to assess genetic risk.

Amniotic Fluid↗
PubMed1995

Fetal lung masses: prenatal course and outcome.

We describe 25 cases of echogenic or complex fetal lung masses seen sonographically and suspected of being cystic adenomatoid malformations or sequestrations of the lung. On the basis of prenatal sonographic appearance, 40% of fetuses were suspected of having type 1, 20% type 2, and 40% type 3 cystic adenomatoid malformations or sequestrations. Sixteen (64%) of the 25 fetuses with lung masses survived the perinatal period, and 80% of the nonaborted fetuses survived. Eleven infants (69% of liveborns) had no respiratory symptoms at birth. Nine of the survivors underwent surgical resections of their masses after birth, whereas the other seven children are being followed conservatively. The postnatal diagnoses revealed that four of the fetuses had sequestrations, one had a sequestration with elements consistent with cystic adenomatoid malformation, and two who were thought to have type 1 cystic adenomatoid malformation had an esophageal duplication cyst and a thoracic neuroblastoma, respectively. All the other infants who had a pathologic diagnosis or postnatal imaging had cystic adenomatoid malformations. Increasing mediastinal shift was associated with decreasing survival as 90% of fetuses with no mediastinal shift are alive, whereas 50% of the nonaborted fetuses with a severe mediastinal shift survived. Follow-up scans in utero were available in 15 cases. The size of the mass became smaller in 53% during gestation. Seventy-one percent of pregnancies had normal amniotic fluid volumes and 29% were complicated by polyhydramnios. Survival of nonaborted fetuses was 100% in pregnancies with normal amniotic fluid compared with 50% in those with polyhydramnios. Eight percent of the fetuses with chest masses had additional structural abnormalities and were karyotypically abnormal. In conclusion, many fetuses with lung masses show improvement of the sonographic findings in utero, and many infants may not be symptomatic at birth. Of the survivors in this series, only slightly greater than half underwent surgery.

Abortion, Spontaneous↗
PubMed1994

Closure of the cerebellar vermis: evaluation with second trimester US.

PURPOSE: To evaluate with sonography the normal development of the fetal cerebellum in the second trimester. MATERIALS AND METHODS: The study included all patients undergoing second trimester genetic amniocentesis who had structurally normal fetuses, in whom the posterior fossa was adequately seen and in whom the karyotype was later determined to be normal. Views of the cerebellum were obtained prospectively, and the inferior vermis was determined to be open or closed at the time of the initial scan. Follow-up was obtained by means of subsequent scans and review of the pediatric record. RESULTS: Of 897 fetuses that met the inclusion criteria, 147 had an open vermis at initial scanning. At 14 weeks gestation, 56% of fetuses had an open vermis, decreasing to 23% at 15 weeks and 6% at 17 weeks. In utero follow-up sonograms were obtained in 79% of fetuses with an initially open vermis and demonstrated closure in all but one fetus. The remaining 21%, without sonographic follow-up, were normal as newborns. CONCLUSION: The prenatal diagnosis of Dandy-Walker variant should not be made before 18 weeks gestation because the development of the cerebellar vermis may be incomplete at that time.

Cerebellum↗
PubMed1994

Second trimester prenatal findings in duodenal and esophageal atresia without tracheoesophageal fistula.

The combination of duodenal atresia and esophageal atresia without tracheoesophageal fistula leads to a closed loop of bowel involving the distal esophagus, stomach, and duodenum. Prenatally, this association of anomalies is visualized as a characteristic dilated C-shaped fluid collection in the fetal abdomen. We report three cases of the association of duodenal and esophageal atresia without tracheoesophageal fistula, identified sonographically in the second trimester of pregnancy.

Adult↗
PubMed1994

Is fetal hyperechoic bowel on second-trimester sonogram an indication for amniocentesis?

OBJECTIVE: To determine the clinical significance of hyperechoic bowel seen sonographically in second-trimester fetuses. METHODS: Fifty fetuses (0.6%) with echogenic bowel were identified sonographically from a population of 8680 consecutive second-trimester fetuses over 21 months. The fetal bowel was considered hyperechoic if its echogenicity was similar to that of surrounding bone. Follow-up was obtained through medical record review. RESULTS: Twenty-nine of 50 fetuses (58%) were normal; eight (16%) were aneuploid, including six Down syndrome, one trisomy 13, and one Turner syndrome. All eight fetuses with aneuploidy had sonographic anomalies in addition to the echogenic bowel. Eight of 50 fetuses (16%) were growth-retarded, and five others (10%) had normal karyotypes but are still undelivered. Among the eight growth-retarded fetuses, there were five intrauterine or neonatal deaths, one elective abortion, and two survivors. In addition, the six fetuses with Down syndrome and echogenic bowel represented 12.5% of all second-trimester Down syndrome fetuses karyotyped in our laboratory during the study period. Combining results from the present study (six Down syndrome fetuses) with three studies from the literature (21 additional Down syndrome fetuses), a total of 27 fetuses with echogenic bowel and Down syndrome were identified, 11 (40.7%) of whom had no other sonographic findings. We calculate that if 1,000,000 second-trimester fetuses were scanned, 5105 would have hyperechoic bowel as the only finding, of whom 71 would have Down syndrome and 5034 would not. The risk of Down syndrome in fetuses with isolated hyperechoic bowel is, therefore, 71 in 5105 or 1.4%. CONCLUSION: The finding of isolated hyperechoic bowel in the second trimester should prompt genetic counseling and consideration of karyotypic analysis.

Amniocentesis↗
PubMed1993

Cystic retrocerebellar malformations: unification of the Dandy-Walker complex and the Blake's pouch cyst.

Twenty-six cases of developmental retrocerebellar cyst (RCC) formation are studied with respect to determining the usefulness and anatomic relevance of separate terms currently in use, including Dandy-Walker complex, Dandy-Walker malformation, Dandy-Walker variant, mega-cisterna magna (MCM), and Blake's pouch cyst. An anatomic and embryological continuum between Dandy-Walker complex and Blake's pouch cyst is proposed. A method for the useful assessment of RCC is outlined. The patency or closure of the aqueduct is crucial to the evaluation and management of hydrocephalus associated with RCC formation.

Arachnoid Cysts↗
PubMed1993

Human fetal compensatory renal growth.

The occurrence of prenatal compensatory renal growth has remained in question, despite the general acceptance of this phenomenon postnatally. We measured by ultrasound imaging the renal length of 22 human fetuses with a solitary kidney or contralateral multicystic dysplastic kidney, and compared it to measurements in 40 normal control fetuses. Renal length was normalized to fetal biparietal diameter. Analysis of covariance showed that the solitary kidneys were significantly larger than normal controls (p < 0.0001), although the rate of growth was not significantly increased above normal. These data document the presence of compensatory renal growth in human fetuses with solitary or functionally solitary kidneys.

Adaptation, Physiological↗
PubMed1993

Prenatal detection of neuroblastoma: a ten-year experience from the Dana-Farber Cancer Institute and Children's Hospital.

OBJECTIVES: To assess the relative frequency of, the clinical and pathological correlates in, and the prognosis of the subset of infants with neuroblastoma who were identified initially by prenatal ultrasonography. DESIGN: Retrospective review of all patients with neuroblastoma evaluated between 1982 and 1992. SETTING: Large, urban, tertiary care children's hospital in Boston, Massachusetts. PATIENTS: Eleven infants with neuroblastoma initially detected with prenatal sonograms were identified. RESULTS: Nine patients had adrenal tumors; two had thoracic paraspinal tumors. Typical diagnostic evidence for neuroblastoma including a palpable abdominal mass and elevations in urinary catecholamines were not commonly seen postnatally. These patients had multiple favorable prognostic indicators including low stage of disease (10/11), favorable biological markers including cellular DNA content (5/5) and N-myc oncogene copy number (5/5), and histopathology suggestive for neuroblastoma in situ (7/11). All patients were treated by surgical resection. One patient exhibited progression of disease postoperatively, but demonstrated a complete clinical response to multiagent chemotherapy. Overall survival in our population was excellent with no deaths seen at a mean follow-up of 37 months (range 3 to 120 months). CONCLUSIONS: Patients with neuroblastoma identified by prenatal ultrasonography generally, although not exclusively, follow a clinically favorable course in which surgical resection is curative. Chemotherapy is not indicated unless substantial progression of disease occurs.

Adrenal Gland Neoplasms↗
PubMed1992

The natural history of oligohydramnios/polyhydramnios sequence in monochorionic diamniotic twins.

Twelve patients with monochorionic diamniotic twin pregnancies complicated by oligohydramnios/polyhydramnios sequence were evaluated to determine the natural history of this syndrome. Nine patients elected to continue their pregnancies and three underwent elective termination. Six of the nine continuing pregnancies delivered viable fetuses. Four of the nine continuing pregnancies had evidence of a 'stuck' twin at less than 20 weeks' gestation, and only one yielded live newborns (25%). Three patients diagnosed with a mild case of oligohydramnios/polyhydramnios sequence underwent worsening of the syndrome with a 'stuck' twin seen only after 26 weeks: all neonates survived. Five pregnancies initially diagnosed as having a 'stuck' twin showed improvement in amniotic fluid volume, with one actually reversing, so that the previously 'stuck' twin developed polyhydramnios and the co-twin became 'stuck'. In summary, among the nine non-aborted pregnancies managed conservatively, 12 of 18 fetuses (67%) survived. When the diagnosis of 'stuck' twin was made at <or= 20 weeks, only two of eight (25%) lived. These observations suggest that the oligohydramnios/polyhydramnios sequence is a dynamic process with wide and often unpredictable fluctuations in amniotic fluid volume.

Journal Article↗
PubMed1992

Fetal meconium peritonitis without sequelae.

Meconium peritonitis is a chemical peritonitis usually resulting from antenatal bowel rupture. Prenatal ultrasound findings include ascites, intraabdominal masses, bowel dilatation and the development of intraabdominal calcifications [1-5]. The most common bowel disorders which lead to meconium peritonitis in utero are those resulting in bowel obstruction and perforation, such as small bowel atresias, volvulus and meconium ileus [1-5]. Meconium ileus is associated with cystic fibrosis in most cases, although extraluminal abdominal calcifications are usually scarce in cases of cystic fibrosis [1, 6]. Postnatal outcome for infants with meconium peritonitis depends on the etiology for bowel rupture and underlying disease.

Ascites↗
PubMed1992

Fetal echocardiography: accuracy and limitations in a population at high and low risk for heart defects.

OBJECTIVE: Our objective was to assess the accuracy of prenatal echocardiography in detecting congenital heart defects in patients at high and low risk for structural cardiac anomalies. STUDY DESIGN: Sixty-nine consecutive fetuses with congenital heart defects who had had prenatal ultrasonography at greater than or equal to 18 weeks' gestation were evaluated to determine the accuracy of prenatal ultrasonography in identifying structural cardiac defects. Thirty-nine patients were at high risk and 30 patients were at low risk for cardiac anomalies. All fetuses were scanned with standard four-chamber and outflow tract views. Data concerning extracardiac anomalies and karyotypic abnormalities were tabulated. The accuracy of the four-chamber view alone in identifying congenital heart defects was evaluated. RESULTS: Fifty-seven of 69 fetuses (83%) were prenatally identified ultrasonographically as having a heart defect. There was no difference in the sensitivity of detecting cardiac anomalies between high-risk and low-risk groups. When the four-chamber view was used, only 63% of fetuses were recognized as having an abnormal heart. Extracardiac anomalies were noted in 36% and karyotypic abnormalities in 17% of patients. CONCLUSION: The four-chamber and outflow tract views done routinely in an ultrasonography laboratory seeing a mixed population of patients was successful in detecting 83% of fetuses with structural cardiac malformations. Because 43% of the fetuses with heart defects were referred for low-risk indications, systematic ultrasonographic examination of the fetal heart should not be reserved only for those at high risk.

Chromosome Aberrations↗
PubMed1992

Late onset severe oligohydramnios associated with genitourinary abnormalities.

We evaluated the diagnosis, gestational age at presentation, timing and mode of delivery, and ultimate outcome in those fetuses with third trimester onset of severe oligohydramnios who also had urinary tract abnormalities. A total of 8 fetuses with obstructive uropathy or cystic renal disease was seen during a 2-year period with the onset of severe oligohydramnios noted between 27 and 33 weeks. Immediate and late postnatal pulmonary function was excellent in 5 of the 8 subjects. Three neonates had respiratory distress but only 1 died at birth. Ultimate renal function varied in the 7 survivors. Those with supravesical obstructive uropathy achieved a normal serum creatinine, while the neonates with renal cystic disease and infravesical obstruction did not.

Female↗