Intrauterine sling: a complication of the stuck twin syndrome.
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Stuck twin syndrome usually presents with polyhydramnios in the recipient sac and severe oligohydramnios in the donor sac. The donor is displaced against the uterine wall and remains adherent in that position. We present a case in which the diagnosis was more complicated, owing to the suspension of the stuck twin by a sling within the sac of the recipient. A monochorionic diamnionic twin gestation was complicated by twin-twin transfusion syndrome at 18 weeks of gestation. In our example, the stuck twin was suspended by a sling from the placenta. The sling band represented the intertwin membrane that was folded upon itself. Amniotic fluid from the recipient twin was present in three dimensions around the stuck twin, except for the sling band. The suspension of the stuck twin by a sling within the amniotic fluid of the recipient is an unusual manifestation of the stuck twin syndrome. (+info)
Color Doppler imaging in the diagnosis and management of chorioangiomas.
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Color Doppler imaging was used to investigate nine consecutive cases of placental tumors referred for evaluation to a tertiary referral unit. Gray-scale ultrasound findings were of a chorioangioma which was subsequently confirmed on pathologic examination. On color Doppler imaging (CDI), three tumors appeared avascular and the pregnancies were uncomplicated, two had only a few vessels in their periphery, and four contained numerous vessels. These vascular chorioangiomas were complicated by polyhydramnios and premature labor (n = 3), isolated polyhydramnios (n = 1), fetal growth restriction (n = 1) and generalized non-immune fetal hydrops (NIHF) (n = 1). The maximum diameter of the tumors ranged between 3 and 10 cm. There was no direct association between the size and location of the tumor and the development of complications. Successful amnioreduction was performed in the three cases of polyhydramnios and premature onset of labor. Vascular sclerosis was attempted unsuccessfully in the case complicated by severe NIHF. Our data indicate that the vascularization of the tumor is a pivotal determinant factor of pregnancy outcome. Where the tumor is avascular, no specific complications should be expected. Where the tumor is vascularized, and in particular if it contains numerous large vessels, serial ultrasound and Doppler examinations are warranted to detect polyhydramnios and early features of fetal congestive heart failure. (+info)
Congenital myotonic dystrophy in Britain. I. Clinical aspects.
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A clinical and genetic study of congenital myotonic dystrophy in Britain has been carried out in 70 patients from 54 sibships. The clinical aspects are analysed here, and the existence of a syndrome clinically distinct from myotonic dystrophy of later onset is confirmed. Characteristic features included neonatal hypotonia, motor and mental retardation, and facial diplegia. A high incidence of talipes occurs at birth together with hydramnios and reduced fetal movements during pregnancy, factors suggesting prenatal onset of the disorder in many cases. Prolonged survival is the rule after infancy, but the occurrence of numerous neonatal deaths in the sibships suggests the existence of unrecognized cases dying in the neonatal period. (+info)
Prenatal diagnosis of congenital Wilms' tumor (nephroblastoma) presenting as fetal hydrops.
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We describe a case of congenital nephroblastoma (Wilms' tumor) presenting at 28 weeks of gestation with fetal hydrops and polyhydramnios. Prenatal diagnosis was made by biopsy. An emergency Cesarean section was performed due to deterioration in the cardiotocograph. A post-mortem examination confirmed the diagnosis of congenital nephroblastoma. (+info)
Severe polyhydramnios in twin reversed arterial perfusion sequence: successful management with intrafetal alcohol ablation of acardiac twin and amniodrainage.
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We present two cases of twin reversed arterial perfusion (TRAP) sequence complicated by severe polyhydramnios during the second trimester. Both cases were successfully managed at 27 and 26 weeks with ultrasound-guided intrafetal alcohol ablation of the acardiac twin and amniodrainage. The pump twins were delivered at 35 and 37 weeks, respectively, and both had uneventful postnatal courses. These cases suggest that, in the setting of severe polyhydramnios, prenatal intervention in TRAP sequence could certainly improve the otherwise poor prognosis of the pump twin. Targeting the main intra-abdominal vessel of the acardiac twin rather than its umbilical cord seems to be a good alternative in the prenatal treatment of these cases. The option of percutaneous intrafetal alcohol injection is widely available and less invasive, simpler and easier to perform than recently advocated endoscopic techniques. (+info)
Indomethacin therapy in hydramnios.
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AIM: The use of indomethacin in treatment of hydramnios was evaluated. SUBJECTS & METHODS: Twelve patients with symptomatic hydramnios were treated with indomethacin (2.2- 3.0 mg/kg body weight/day). RESULTS: The treatment was started at a gestational age of 31.17-/+7.94 weeks and continued for 3.74-/+2.3 weeks. Eleven patients responded to the therapy both subjectively and objectively and pregnancies were prolonged by 4.6-/+3.1 weeks (range 0.1-10 weeks). Five women had term deliveries. Six patients had a favourable perinatal outcome. Four patients who had a known congenital anomaly in the foetus, delivered stillborn babies or had an early neonatal death. One patient who did not follow up after commencing therapy delivered a full-term stillbirth. One patient delivered within 1 day of starting therapy. Indomethacin therapy caused no maternal complications. CONCLUSION: Indomethacin was effective in the management of hydramnios and preventing it's complications. (+info)
Prenatal diagnosis of 13q- syndrome in a fetus with holoprosencephaly and thumb agenesis.
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Partial deletion of the long arm of one of the chromosomes 13 is an exceedingly rare condition. We report such a case in a 32-week fetus presenting with polyhydramnios, growth restriction and multiple structural defects including alobar holoprosencephaly, facial abnormalities, clubfoot, clinodactyly and thumb agenesis. Fetal blood sampling revealed a 46,XY, del(13)(q22 --> qter) abnormal male karyotype. Postmortem examination confirmed the prenatal findings and showed other manifestations of the syndrome. To our knowledge, this case represents the first in which the prenatal ultrasound detection of holoprosencephaly in association with distal limb abnormalities led to the prenatal diagnosis of the 13q- syndrome. (+info)
Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects.
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A high level of polycystin-1 expression is detected in kidneys of all patients with autosomal dominant polycystic kidney disease (ADPKD). Mice that overexpress polycystin-1 also develop renal cysts. Whether overexpression of polycystin-1 is necessary for cyst formation is still unclear. Here, we report the generation of a targeted mouse mutant with a null mutation in Pkd1 and its phenotypic characterization in comparison with the del34 mutants that carry a 'truncation mutation' in Pkd1. We show that null homozygotes develop the same, but more aggressive, renal and pancreatic cystic disease as del34/del34. Moreover, we report that both homozygous mutants develop polyhydramnios, hydrops fetalis, spina bifida occulta and osteochondrodysplasia. Heterozygotes also develop adult-onset pancreatic disease. We show further that del34 homozygotes continue to produce mutant polycystin-1, thereby providing a possible explanation for increased immunoreactive polycystin-1 in ADPKD cyst epithelia in the context of the two-hit model. Our data demonstrate for the first time that loss of polycystin-1 leads to cyst formation and defective skeletogenesis, and indicate that polycystin-1 is critical in both epithelium and chondrocyte development. (+info)