An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line

We report a 16-month-old boy with delayed psychomotor development, dysmorphic features, and failure to thrive. He had a mosaic karyotype detected prenatally: mos 46,XY/47,XY,+r(20)/47,XY,+20. After birth, the abnormal cell lines were confirmed in a number of tissues. The small ring chromosome was identified using fluorescence in situ hybridization as derived from chromosome 20. We compared our patient with previously reported cases of mosaic trisomy 20 detected prenatally and associated with an abnormal phenotype. In an attempt to characterize an r(20) syndrome, we also compared our case with two similar reports in the literature.     

Factors associated with multiple-pass procedures during chorionic villus sampling: A video analysis

Multiple placental passes during chorionic villus sampling (CVS) increase the risk of fetal loss; however, specific factors that predispose to repeat aspiration have not been delineated. To identify anatomic and technical variables associated with multiple-pass procedures, a detailed review of 205 videotaped CVS procedures (single pass = 163; multiple pass = 42) was performed, blinded to pregnancy outcome. The route of sampling did not influence the need for multiple aspiration attempts (transabdominal—30/ 135; transcervical—12/70), nor was placental location alone discriminatory. However, the combination of a posterior placenta and uterine retroversion was observed more frequently in the multiple-pass cohort (8/42 vs. 9/163; p<0.05). In transabdominal cases, suboptimal needle placement (e.g., perpendicular to the placental long axis) was more common in the initial aspiration of a multiple-pass procedure (21/30 vs. 38/105;p<0.01), while limited penetration of the catheter tip (e.g., just inside the placental edge) characterized a majority of multiple-pass cases in the transcervical subset (7/12 vs. 3/58; p<0.0001). A case-control cohort was constructed to evaluate the impact of these technical variables on sampling efficacy, independent of the influence of uterine position and placental site. In that analysis, suboptimal location and/or orientation of the sampling device remained characteristic of multiple-pass cases. We conclude that further reduction in the frequency of multiple-pass procedures might be achieved by consistent placement of the device tip in the central placental mass. Unlike amniocentesis, where any point of amnion entry will suffice, this technical nuance should be emphasized with CVS to maximize the single-pass success rate.     

Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)

Many authors have suggested that individuals affected by a terminal 1q deletion display a phenotypically definable and recognizable syndrome. In all of the 27 cases reported to date, the breakpoints were at band q42 or distally to it. To our knowledge, we report the first case of a terminal 1q41 deletion. Diagnosis was made prenatally by amniocentesis, following ultrasonographic diagnosis of omphalocele, cerebral ventriculomegaly, and increased nuchal fold thickness in a 19-week female fetus. Multiple facial and extremity features were consistent with the proposed distal 1q deletion syndrome; omphalocele, however, has not been reported previously. The absence of liver herniation into the omphalocele sac in this case supports the previously reported association of this finding with chromosomal anomalies.     

Internal circulating fluidized bed incineration system and design algorithm

ＩｎｔｒｏｄｕｃｔｉｏｎＴｈｅｐｒｏｃｅｓｓｏｆｍｕｎｉｃｉｐａｌｓｏｌｉｄｗａｓｔｅ(ＭＳＷ)ｉｓｏｎｅｏｆｔｈｅｍｏｓｔｓｅｒｉｏｕｓｉｓｓｕｅｓｉｎｔｅｒｍｓｏｆｅｎｖｉｒｏｎｍｅｎｔａｌｐｒｏｔｅｃｔｉｏｎ.ＰｒｏｃｅｓｓｉｎｇｏｆＭＳＷｗｉｔｈｏｕｔｆｕｒｔｈｅｒｄｉｓａｓｔｒｏｕｓｃｏｎｔａｍｉｎａｔｉｏｎｃａｎｂｅａｃｈｉｅｖｅｄｏｎｌｙｉｎｍｏｄｅｒｎｉｚｅｄｍｅａｓｕｒｅｓ,ｓｕｃｈａｓｉｎｃｉｎｅｒａｔｉｎｇａｎｄｅｎｅｒｇｙｇｅｎｅｒａｔｉｎｇｃｏｎｃｕｒｒｅｎｔｌｙ(Ｓｈｅｎ…     

Chinese life cycle impact assessment factors

ＩｎｔｒｏｄｕｃｔｉｏｎＬｉｆｅｃｙｃｌｅａｓｓｅｓｓｍｅｎｔ(ＬＣＡ)ｉｓａｎｅｎｖｉｒｏｎｍｅｎｔａｌｍａｎａｇｅｍｅｎｔｔｏｏｌｔｈａｔｉｓｕｓｅｄｔｏｅｘａｍｉｎｅａｎｄｅｖａｌｕａｔｅｔｈｅｅｎｖｉｒｏｎｍｅｎｔａｌｉｍｐａｃｔｓａｓｓｏｃｉａｔｅｄｗｉｔｈｔｈｅｅｘｉｓｔｅｎｃｅｏｆｐｒｏｄｕｃｔｓ(Ｊｅｎｓｅｎ,1998;Ｗｅｉｄｅｍａ,1997;Ｗｅｎｚｅｌ,1997).ＴｈｅｆｏｃｕｓｏｆＬＣＡｉｓｏｎｔｈｅｅｎｔｉｒｅｌｉｆｅｃｙｃｌｅｏｆｔｈｅｐｒｏｄｕｃｔ,ｉ.ｅ.ｆｒｏｍｔｈｅｅｘｔｒａｃｔｉ…