Transvaginal chorionic villus sampling

Chorionic villus sampling (CVS) with either transcervical catheters or transabdominal needles is a widely-accepted method for prenatal diagnosis. However, there exists a small subset of patients in whom sampling is difficult or impossible with either route because of individual anatomic variations. A new method of chorionic villus biopsy has been developed to circumvent these problems, utilizing transvaginal chorionic needle aspiration guided by an intravaginal ultrasound probe. This technique was performed successfully in 15 patients in whom villi could not be obtained by either of the conventional methods. This method now makes CVS possible in essentially all women regardless of their uterine anatomy or placental placement; it may also prove useful for very early chorionic sampling.     

Rare non-mosaic trisomies in chorionic villus tissue not confirmed at amniocentesis

This paper reports eight cases of non-mosaic, rare, and typically lethal trisomies diagnosed in chorionic villi and not confirmed by amniocentesis. Four cases were 47,XX, + 16; two cases were 47,XX, +2; one was 47,XX, + 12; and one was 47,XY, +7. There have been no known complications in any of these gestations. These eight cases were found in a series of approximately 12 000 samples processed in our laboratory (0.07 per cent). We conclude that (1) rare non-mosaic trisomy not reflecting the fetal condition is an occasional source of diagnostic ambiguity in chorionic villus sampling; and (2) when encountered, a follow-up amniocentesis should be recommended to the patient to confirm or rule out the abnormality. We propose the term ‘confined placental abnormality’ to describe non-mosaic trisomies and other related abnormalities found only in chorionic tissue.     

Evaluation of Downwash Modifications to the Industrial Source Complex Model

The Industrial Source Complex (ISC) model has been modified to account for Improved understanding of plume rise and downwash around buildings. Two sets of observations are used to compare the modified and the original ISC models, showing that the new model better simulates the observed concentrations during high-wind conditions when downwash usually occurs.     

Development and Evaluation of the PRIME Plume Rise and Building Downwash Model

ABSTRACT

A new Gaussian dispersion model, the Plume Rise Model Enhancements (PRIME), has been developed for plume rise and building downwash. PRIME considers the position of the stack relative to the building, streamline deflection near the building, and vertical wind speed shear and velocity deficit effects on plume rise. Within the wake created by a sharp-edged, rectangular building, PRIME explicitly calculates fields of turbulence intensity, wind speed, and streamline slope, which gradually decay to ambient values downwind of the building. The plume trajectory within these modified fields is estimated using a numerical plume rise model. A probability density function and an eddy diffusivity scheme are used for dispersion in the wake. A cavity module calculates the fraction of plume mass captured by and recirculated within the near wake. The captured plume is re-emitted to the far wake as a volume source and added to the uncaptured primary plume contribution to obtain the far wake concentrations.

The modeling procedures currently recommended by the U.S. Environmental Protection Agency (EPA), using SCREEN and the Industrial Source Complex model (ISC), do not include these features. PRIME also avoids the discontinuities resulting from the different downwash modules within the current models and the reported overpredictions during light-wind speed, stable conditions. PRIME is intended for use in regulatory models. It was evaluated using data from a power plant measurement program, a tracer field study for a combustion turbine, and several wind-tunnel studies. PRIME performed as well as or better than ISC/SCREEN for nearly all of the comparisons.     

Risk factors associated with transcervical CVS losses

Factors found to be associated with pregnancy loss after transcervical CVS were race (higher for non-white), history of spontaneous abortion, unplanned pregnancy, history of spotting or bleeding during the pregnancy prior to CVS, and placental position (higher for fundal or lateral locations). Whether the increase in loss risk is due to the factor, per se, or the factor plus the CVS cannot be determined due to the lack of appropriate control data.     

Cytogenetic results from the U.S. collaborative study on CVS

Cytogenetic data are presented for 11 473 chorionic villus sampling (CVS) procedures from nine centres in the U.S. NICHD collaborative study. A successful cytogenetic diagnosis was obtained in 99.7 per cent of cases, with data obtained from the direct method only (26 per cent), culture method only (42 per cent), or a combination of both (32 per cent). A total of 1.1 per cent of patients had a second CVS or amniocentesis procedure for reasons related to the cytogenetic diagnostic procedure, including laboratory failures (27 cases), maternal cell contamination (4 cases), or mosaic or ambiguous cytogenetic results (98 cases). There were no diagnostic errors involving trisomies for chromosomes 21, 18, and 13. For sex chromosome aneuploidies, one patient terminated her pregnancy on the basis of non-mosaic 47,XXX in the direct method prior to the availability of results from cultured cells. Subsequent analysis of the CVS cultures and fetal tissues showed only normal female cells. Other false-positive predictions involving non-mosaic aneuploidies (n = 13) were observed in the direct or culture method, but these cases involved rare aneuploidies: four cases of tetraploidy, two cases of trisomy 7, and one case each of trisomies 3, 8, 11, 15, 16,20, and 22. This indicates that rare aneuploidies observed in the direct or culture method should be subjected to follow-up by amniocentesis. Two cases of unbalanced structural abnormalities detected in the direct method were not confirmed in cultured CVS or amniotic fluid. In addition, one structural rearrangement was misinterpreted as unbalanced from the direct method, leading to pregnancy termination prior to results from cultured cells showing a balanced, inherited translocation. False-negative results (n = 8) were observed only in the direct method, including one non-mosaic fetal abnormality (trisomy 18) detected by the culture method and seven cases of fetal mosaicism (all detected by the culture method). Mosaicism was observed in 0.8 per cent of all cases, while pseudomosaicism (including single trisomic cells) was observed in 1.6 per cent of cases. Mosaicism was observed with equal frequency in the direct and culture methods, but was confirmed as fetal mosaicism more often in cases from the culture method (24 per cent) than in cases from the direct method (10 per cent). The overall rate of maternal cell contamination was 1.8 per cent for the culture method, but there was only one case of incorrect sex prediction due to complete maternal cell contamination which resulted in the birth of a normal male. The rate of maternal cell contamination was significantly higher in samples obtained by the transcervical sampling method (2. 16 per cent) than in samples obtained by the transabdominal method (0.79 per cent). From these data, it is clear that the culture method has a higher degree of diagnostic accuracy than the direct method, which should not be used as the sole diagnostic technique. The direct method can be a useful adjunct to the culture method, in which maternal cell contamination can lead to incorrect sex prediction and potentially to false-negative diagnostic results.     

Development and evaluation of the PRIME plume rise and building downwash model

A new Gaussian dispersion model, the Plume Rise Model Enhancements (PRIME), has been developed for plume rise and building downwash. PRIME considers the position of the stack relative to the building, streamline deflection near the building, and vertical wind speed shear and velocity deficit effects on plume rise. Within the wake created by a sharp-edged, rectangular building, PRIME explicitly calculates fields of turbulence intensity, wind speed, and streamline slope, which gradually decay to ambient values downwind of the building. The plume trajectory within these modified fields is estimated using a numerical plume rise model. A probability density function and an eddy diffusivity scheme are used for dispersion in the wake. A cavity module calculates the fraction of plume mass captured by and recirculated within the near wake. The captured plume is re-emitted to the far wake as a volume source and added to the uncaptured primary plume contribution to obtain the far wake concentrations. The modeling procedures currently recommended by the U.S. Environmental Protection Agency (EPA), using SCREEN and the Industrial Source Complex model (ISC), do not include these features. PRIME also avoids the discontinuities resulting from the different downwash modules within the current models and the reported overpredictions during light-wind speed, stable conditions. PRIME is intended for use in regulatory models. It was evaluated using data from a power plant measurement program, a tracer field study for a combustion turbine, and several wind-tunnel studies. PRIME performed as well as or better than ISC/SCREEN for nearly all of the comparisons.