SRY gene amplifications and genotypings revealed the occurrence of the hidden maternal decidual cells in 46,XX karyotyped spontaneous abortions.

Reports of abnormal karyotypes or normal 46,XY karyotypes of the abortion materials derivated from tissue cultures are mostly addressing the pregnancy loss tissues. The accuracy of the cytogenetic reports of normal 46,XX karyotypes is obscure, as the results may reflect the normal karyotyped female pregnancy losses or the hidden maternal decidual cells covering the cytogenetically normal or abnormal male or female products of conception. In the present study, thirty-eight 46,XX normal karyotyped abortion materials cultivated from villi were re-analysed for excluding maternal cell contamination by using molecular approaches in an accurate algorithm. Abortion materials DNAs were amplified by polymerase chain reaction (PCR) technique in order to search the products of the sex determinating region gene of chromosome Y (SRY). Sixteen out of 38 abortion materials revealed Y-chromosome component (42.1%). Amplification negative DNAs and their parental DNAs were genotyped by using high-polymorphic microsatellite DNA markers to identify the origin of the components of the chromosome X. Maternal chromosome X components were detected in 18 (81.8%). As a result, SRY amplifications and genotypings ascertained the high rate of maternal decidual cells in 46,XX products of conception.

Prenatal diagnosis of diastematomyelia in a 15-week-old fetus.

OBJECTIVE: A case of prenatal diagnosis of diastematomyelia is presented. METHODS: A case of fetal diastematomyelia, diagnosed by prenatal sonography, demonstrated the typical sonographic features of this condition. In this case it was detected at 15 weeks of gestation, and presented with a midline echogenic focus in the posterior region of the thoracolumbar spine. RESULTS: The pregnancy was terminated by induction of labor. The fetus was female and there was a 1-cm long endurated hyperemic lesion at the back of the fetus. We confirmed the diagnosis of diastematomyelia after termination of pregnancy by plain chest and abdominal X-ray and also MRI scanning. CONCLUSION: Isolated diastematomyelia is a rare form of spinal dysraphism characterized by a sagittal cleft in the spinal cord, conus medullaris and/or filum terminale with splaying of the posterior vertebral elements. Prenatal diagnosis of this anomaly is possible in the early mid-trimester by sonography, thus allowing for early surgical intervention and a favorable prognosis.