Biomedical subjects
Publications and source records attributed to F O Redwine.
The most prevalent soft tissue tumour in children is rhabdomyosarcoma. These tumours may develop within or outside of muscle anywhere in the body and at any age. We report what is apparently the earliest case of non-cardiac rhabdomyosarcoma detected prenatally.
Polyhydramnios and premature labor at twenty-seven weeks secondary to an intrafetal renal cyst are described. Antenatal fetal cyst decompression successfully reversed the polyhydramnios and prevented premature delivery, resulting in a full-term healthy infant delivered vaginally at thirty-nine weeks. Urologic investigation postpartum revealed a probable congenital ureteropelvic junction obstruction.
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The authors have performed selective birth in two twin pregnancies in the same patient. The couple's first pregnancy resulted in the birth of a male with Tay Sachs disease: their Pergonal-induced second pregnancy was a twin gestation discordant for Tay Sachs disease. A fetal intracardiac puncture, exsanguination, and fetal intracardiac air embolization were then performed. The patient went into premature labor 9 days later and delivered a normal immature infant, who died, and the macerated cotwin. The third Pergonal-induced pregnancy was a singleton with Tay Sachs disease and the pregnancy was terminated. Their fourth Pergonal-induced pregnancy was a twin gestation discordant for Tay Sachs disease. At 20 weeks gestation, fetal intracardiac air embolization was performed with immediate demise of the affected fetus. The pregnancy was followed closely with ultrasonography and coagulation studies and proceeded to term without complication. A normal female and a fetus papyraceous were delivered by cesarean section.
The diagnosis of multiple gestation at the time of genetic amniocentesis is a routine occurrence. In a combined series of 2765 patients referred for antenatal genetic studies from the Medical College of Virginia and the University of Iowa, 34 twin pregnancies were encountered (1.2%). Twenty-six of the patients with twins were referred for advanced maternal age. The other indications were previous neural tube defects (1), previous trisomy 21 (2), known carriers of Tay Sachs disease (2), previous Turner's syndrome (1), family history of trisomy 21 (1), and one pregnancy was referred because of an abnormal ultrasound. Amniocentesis procedures, outcome of the twin pregnancies, and genetic counseling issues, are discussed.
An increased incidence of twinning has been reported among patients with Klinefelter's syndrome (XXY) and their relatives, but no data have been reported about the incidence of XXY among twins. Results from our institution's antenatal testing clinic provide data about twins and XXY. In 1842 pregnancies tested, 21 were noted to be twin gestations. Five fetuses with XXY were detected in all pregnancies, of which there was a pair of MZ twins concordant for XXY and a pair of DZ twins discordant for XXY. The incidence of XXY in twins was thus 7,1%. The fetal phenotype of XXY was examined in aborted MZ twins and found to be mild. Notably, the testicular histology was normal. These cases confirm the previously reported association of twinning and XXY. The association of twinning and XXY implies a commonality of causation; however, a maternal age effect cannot be excluded. Our data suggest that there is an increased risk of XXY among twins.
At 28 weeks' gestation a patient developed polyhydramnios associated with a large fetal renal cyst demonstrated by ultrasound. Drainage of the cyst was performed, resulting in the disappearance of polyhydramnios. The pregnancy progressed normally to term and resulted in the delivery of a healthy infant.
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Investigations were performed in eight young women to determine if the findings of secondary amenorrhea and high follicle-stimulating hormone levels were due to primary ovarian follicular atresia or to other causes. Karyotypes were determined from both peripheral leukocytes and ovarian tissue; one woman had XXX/XX/XO mosaicism. Another woman had normal ovarian histology and probably had the "gonadotropin-resistant ovary syndrome." No autoimmune antibodies were detected, but one woman with myasthenia gravis also had ovarian histology that demonstrated primary ova and a developing follicle. Only five of eight women had primary ovarian follicular atresia, and two of the other three women had conditions theoretically compatible with subsequent pregnancy.