The association of rare chromosomal rearrangements involving a specific 10q breakpoint with a single umbilical artery (SUA) and sex reversal has never been reported. This report describes the case of a fetus with prenatal ultrasound features of severe intrauterine growth retardation (IUGR), congenital heart disease, and SUA. Fetal blood study revealed de novo deletion of 10q25 and a 46,XY karyotype, while ultrasound demonstrated female genitalia. Based on these findings, sex reversal was diagnosed. Polymerase chain reaction (PCR) amplification revealed the presence of the sex‐determining region of the Y (SRY) gene. The pregnancy was terminated at 36 weeks and the newborn weighed 1908 g with marked facial dysmorphism and abnormal genitalia. Because the parents refused autopsy for this case, histopathological examination of gonads was not performed. Breakpoint of the long arm of chromosome 10 may be responsible for sex reversal in the present case and it could thus confirm the concept of autosomal sex reversal proposed in previous reports. © 1998 John Wiley & Sons, Ltd.
The efficacy and safety of intracervical placement of laminaria and intravenous prostaglandin E2 (sulprostone) infusion for termination of second-trimester pregnancies with abnormal fetuses was investigated. One hundred and six pregnant women at 13-29 weeks' gestation with fetal anomalies underwent laminaria tent insertion into the cervical canal on admission. The next morning, Sulprostone infusion was started at a rate of 16 microg/h and increased by 16 microg/h every 30 min to induce uterine contractions. Induction-to-abortion time (IAT), success and complete abortion rates, and sulprostone-related side effects were registered. The overall success and complete abortion rates within 24 h were 91.5 and 80.2%, respectively. The mean IAT was 12.1+/-7.6 h. The incidence of nausea and/or vomiting was 17.9%, with 1.7 episodes per case. Diarrhea and fever (9.5%) were not common. Laminaria tent insertion plus sulprostone infusion was an effective and safe regimen for second-trimester termination of pregnancy with live fetuses.
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