Terminal deletion of 7q presenting in utero with a truncus arteriosus and nonimmune hydrops.

Terminal deletion of 7q presents with variable anatomical and developmental findings. This case is the first reported in utero diagnosis based on cytogenetic findings and in utero demonstration of resolving congestive heart failure due to a truncus arteriosus.

Antenatal detection of hypoplastic right ventricle with fetal M-mode echocardiography. A report of two cases.

Two cases of hypoplastic right ventricle were identified using fetal M-mode echocardiography. Follow-up studies and autopsies confirmed these findings. Both lesions were detected in women without antenatal risk factors. The indication for M-mode examination was an abnormal four-chambered view of the fetal heart obtained during ultrasound examination for common obstetric indications.

Antepartum ultrasonographic evaluation and management of placental chorioangioma. A case report.

Chorioangiomas are usually small and found by careful sectioning of the placenta. In recent years ultrasonography has been used in antenatal diagnosis. Multiple and large tumors (greater than 5 cm) are associated with increases in fetal morbidity and mortality. We treated a woman who had severe polyhydramnios and a large chorioangioma with vascular channels in the tumor confirmed by Doppler studies. Daily fetal breathing was used to monitor fetal well-being.

Allied health outcomes research using a collaborative distance approach.

As part of an activity sponsored by the Coalition for Allied Health Leadership, individuals representing various allied health disciples formed a team to develop a presentation and bibliography on outcomes research in allied health. Team members worked with each other while geographically separated, and concluded that several factors contributed to the difficulty the team encountered in working together in a truly collaborative manner. However, the team's efforts did result in a viable presentation on outcomes research in allied health to include definition and parameters, a discussion of the multidimensional nature of treatment and its effects, suggested schema, and comparisons of several outcome-assessment instruments. In addition, a bibliography on outcomes research in allied health was produced.

Roberts syndrome: antenatal ultrasound--a case report.

There is obvious confusion and overlap involving these various syndromes, i.e., Roberts syndrome, SC phocomelia, and TAR syndrome. However, the patient reported here seemed to exhibit the features of shortened upper extremities, clefting, and microbrachycephaly characteristic of Roberts syndrome. Antenatal detection of Roberts syndrome may be important in that early neonatal death can be expected. Other similar syndromes may have much longer survival. Cytogenetic abnormalities may be detected as well. It appears that routine ultrasonographic assessment of humerus length in addition to femur length may yield certain diagnoses that otherwise would be missed. The parents can be counselled concerning antenatal management including the possibility of not performing a cesarean section for some abnormal presentations.

Beckwith-Wiedemann syndrome: prenatal ultrasound diagnosis using standard kidney to abdominal circumference ratio.

Enlarged fetal kidneys are characteristic of more than one possible diagnosis. Though infantile polycystic kidney disease is probably the most well known entity and is associated with oligohydramnios, Beckwith-Wiedemann syndrome should be considered in the differential diagnosis especially if a normal or increased amount of amniotic fluid is present. The presence of an omphalocele with a normal karyotype should also arouse suspicion. This constellation of findings carries potential morbidity including macrosomia, fetal hypoglycemia, mental retardation, microcephaly, increased risk of subsequent neoplasia, and even neonatal death. Beckwith-Wiedemann syndrome may not be obvious in the newborn period.

Development of the Eagle-Barrett (prune belly) syndrome and a thickened, poorly functional bladder wall after early second-trimester decompression of fetal megacystis.

The management of bladder outlet obstruction in the fetus remains a debated issue. Recent data suggest the use of cystocentesis for the possible relief of the bladder neck obstruction or for the opening of posterior urethral valves. This case report adds further support for the use of cystocentesis and observation prior to the placement of an indwelling bladder shunt. The case further demonstrates that relief of the megacystis may not prevent prune belly syndrome, bladder dysfunction or renal damage. Finally, the case demonstrates that severe oligohydramnios in the second trimester need not invariably result in pulmonary hypoplasia.