Rapid prenatal diagnosis of trisomy 21 by real-time quantitative polymerase chain reaction with amplification of small tandem repeats and S100B in chromosome 21.

Trisomy 21 (Down syndrome) is the most common congenital anomaly, and it occurs in one out of 700-1000 births. Current techniques such as amniocentesis and chorionic villi sampling (CVS) require lengthy laboratory culture procedures and high costs. This study was undertaken to establish a rapid prenatal diagnosis of trisomy 21 using real-time quantitative polymerase chain reaction (PCR) of fetal DNA from amniotic fluid. Real-time quantitative PCR was performed with DNA templates obtained from 14 normal blood samples, 10 normal amniotic fluid samples, 14 Down syndrome blood samples, and 7 Down syndrome amniotic fluid samples. Primers for D21S167 and S100B of chromosome 21 were used. Primers that direct the amplification of the 165-bp fragment of the insulin-like growth factor (IGF)-1 gene on chromosome 12 using a PCR primer were included to generate an internal standard for quantitation. The relative levels of D21S167 and S100B were 2.6 and 2.4 times higher in the blood of Down syndrome patients than those in the control group. The differences between these two groups were statistically significant (p-values were 0.0012 and 0.0016, respectively). The relative levels of D21S167 and S100B were 2.1 and 2.7 times higher in the amniotic fluid of Down syndrome fetuses than those in the control group. The difference between these two groups was statistically significant (p-values were 0.0379 and 0.0379, respectively). Prenatal diagnosis of trisomy 21 by real-time quantitative PCR using STR (small tandem repeats) amplification of D21S167 and S100B is a useful, accurate and rapid diagnostic method. Furthermore, it may also be useful for prenatal diagnosis with fetal DNA from maternal blood, and for preimplantation genetic diagnosis and prenatal counseling.

Pelvic leiomyomatosis with intracaval and intracardiac extension: a case report and review of the literature.

BACKGROUND: Intravenous leiomyomatosis with intracaval and intracardiac extension has been rarely described in surgical, gynecological, and radiological literatures. Complete excision of the tumor is essential for a favorable outcome. Because of the uniqueness of this tumor having an absent or localized attachment site, its removal is feasible when assisted, prior to surgery, with appropriate imaging and planning. CASE: The case was a 46-year-old woman, with intravenous leiomyomatosis originating from the uterus and extending to the inferior vena cava and right atrium, with extensive intracaval attachment, diagnosed from the various preoperative studies and operated successfully through the single-stage approach using cardiopulmonary bypass. CONCLUSION: We present an unusual case of intravenous leiomyomatosis originating from the uterus and extending to the inferior vena cava and right atrium with extensive intracaval attachment. We include a brief review of the literatures.