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.     

Risk of miscarriage after transcervical and transabdominal CVS in relation to bacterial colonization of the cervix

Cervieo-genital colonization with micro-organisms poses a potential threat to the pregnancy when transcervical (TC) CVS is performed. In order to evaluate this threat, cervical swabs in 478 patients were obtained and cultured for bacteria, yeasts, and mycoplasmas; chlamydias were detected by an enzyme immunology test. Two hundred and seventy-one patients had CVS (ione transvaginally and 207 underwent transabdominal (TA) CVS. Transvaginal specimens were obtained in 61.6 per cent by forceps biopsy. Overall in 29.9 per cent of patients micro-organisms were detected, the rate and distribution of different species being the same in both groups. There were 36 (7.5 per cent) miscarriages up to 28 weeks of gestation in the combined groups, 29 (10.7 per cent) in the TC-CVS group and 7 (3.4 percent) in the TA-CVS group. When miscarriages occurred after TC-CVS, bacteria/yeasts were involved in 10.3 per cent cif cases and mycoplasmas in 37.9 per cent, this proportion being almost the same in early (<2 weeks) and late (>2 weeks) miscarriages. After TA-CVS, in 28.6 per cent only mycoplasmas, and this only in late miscarriages (> 2 weeks), were involved, accounting for 40 per cent of late miscarriages.     

Tetrasomy 12p—unusual presentation in CVS

CVS direct preparations usually achieve limited resolution and are better at detecting numerical rather than structural abnormalities. A CVS direct preparation analyzed using G-banding revealed a 47,XY,+G karyotype in 5 of 11 cells and was reported as mosaic for trisomy 21. Subsequent analysis of the CVS culture found only normal male cells. Amniocentesis revealed both normal male cells and cells with an extra F-group chromosome. Fluorescence in situ hybridization (FISH) identified this chromosome to be an isochromosome from the short arm of chromosome 12 [i(12)(p10)]. The amniocyte karyotype was reported as 47,XY,+i(12)(p10)[12]/46,XY[8].ish i(12)(p10)(wcp12+), which is associated with Pallister–Killian syndrome. Reexamination of the CVS direct preparation by FISH with a chromosome 12 centromere probe confirmed the karyotype of this tissue to be 47,XY,+mar[5]/46,XY[6].nuc ish 12cen(D12Z3 × 3)/12cen(D12Z3 × 2). Thus, multiple studies, including amniocentesis and fluorescence in situ hybridization, may be required to fully and accurately evaluate abnormalities detected by CVS. This case also indicates that mosaicism for supernumerary isochromosomes may have a complex origin. Copyright © 2003 John Wiley & Sons, Ltd.     

Fetal limb constriction: A possible complication of CVS

A case of fetal loss due to infection after first-trimester chorionic villus sampling is described. The fetus was born at 18 3/7 weeks and showed an annular constriction of one of the arms as seen in the amniotic band sequence. Induction of congenital defects might be one of the complications of chorionic villus sampling.     

Confined placental mosaicism in CVS and pregnancy outcome

The perinatal outcome of 26 patients with confined placental mosaicism (CPM) detected in chorionic villus sampling (CVS) who wished to continue their pregnancies was compared with that of two controls per patient matched for age and parity (n=52). There were no significant differences in birth weight or gestational age at delivery between patients with CPM and controls. There were no cases of intrauterine growth retardation (IUGR) in the CPM patients as compared with two (2/52, 3·8 per cent) in the control group (P>0·05). There was no significant increase in fetal loss between the study group (1/26, 3·6 per cent) and the controls (1/52, 1·9 per cent) (P>0·05).     

Translocation trisomy 21 in CVS not found in embryoblast: Three different cell lines in CVS,amnion- and placental culture

Chorionic villus samples from a healthy pregnant female were obtained for first-trimester prenatal diagnosis. A translocation trisomy 21 was diagnosed. A consecutive amniocentesis revealed a normal male karyotype. At term a healthy boy was born. Cytogenetic analysis from cord blood showed a regular karyotype of 46,XY, whereas in term placenta a pathological karyotype of 47,XY,+mar was found.     

Risk evaluation in chorionic villus sampling

The occasion of the 18th symposium of the European Society of Human Genetics, 20 May to 2 June, provided an opportunity for the WHO to sponsor a small meeting on the progress of risk evaluation in three large programmes of chorionic villus sampling (CVS). Their pooled information showed a rate of fetal loss of 3·4 per cent in the first 300 cases in each programme, falling to 1·7 per cent in the following 400 cases.     

The predictive value of cytogenetic diagnosis after CVS: 1500 cases

The cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1·5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0·2 per cent in the last 500. In the remaining 1477 samples, 58 (3·9 per cent) chromosomal aberrations were found. Of these, 21 (36 per cent) proved not to represent the karyotype of the fetus proper. Predictive values of (different groups of) chromosomal aberrations in CVS are calculated. The impact of (differences between) the predictive value for some major chromosomal aberrations is discussed. A tissue- and chromosome-specific selection mechanism is postulated.     

Follow-up and pregnancy outcome after a diagnosis of mosaicism in CVS

In 2103 consecutive diagnostic chorionic villus samples, examined in a 4-year period in our clinical genetics unit, 26 samples (1.2 per cent) presented chromosomal mosaicism in the direct and/or long-term culture preparations. Only once (46,XX/47,XX,+9) was the mosaicism confirmed in the fetus. In the cytogenetic follow-up studies of the remaining 25 pregnancies, in no cases could the aberration be confirmed in amniotic fluid or fetal tissue. One patient requested a termination after the CVS result. Of the remaining 24 pregnancies, four (16.7 per cent) ended in a spontaneous abortion. These findings suggest an association between placental mosaicism and fetal loss.     

Cytogenetic analysis of 2928 CVS samples and 1075 amniocenteses from randomized studies

We report cytogenetic results from a randomized Danish chorionic villus sampling (CVS) and amniocentesis (AC) study including 2928 placental and 1075 amniotic fluid specimens processed in the same laboratory. The results are presented in groups comparing CVS with amniocentesis and transabdominal (TA) CVS with transcervical (TC) CVS as randomized. More abnormalities and more ambiguous diagnostic problems were found in placental tissues than in amniotic cells. There were no diagnostic errors and no incorrect sex predictions. Mosaicism was detected in 1 per cent of all cases of CVS (discordancies included). When confirmation studies were done, 90 per cent were found to be confined to the placenta. Eight cases (0.7 per cent) of mosaicism/pseudomosaicism were seen in amniotic fluid specimens, and two cases of five with confirmation studies were confirmed in the fetus. The rate of mosaicism/pseudomosaicism in CVS and AC specimens differed (P <0.05). The rate of pseudomosaicism in cultures of villi and amniotic fluid cells was 0.5 and 0.6 per cent, respectively. Single-cell aneuploidy was observed in 1.8 per cent of villi and 1.4 per cent of amniotic fluid cell specimens. Maternal cell contamination (MCC) was seen more often after TC sampling (4.5 per cent) compared with TA sampling (1.5 per cent), but posed no problems in interpretation. Compared with the processing of cultured specimens, the short-term method of preparation of villi in our laboratory doubled the technicians' workload. For practical and economic reasons we have ceased the routine use of short-term preparations.     

Implications of maternal serum alpha-fetoprotein elevation caused by transabdominal and transcervical CVS

Of 2882 women allocated to either transabdominal CVS (TA) or transcervical CVS (TC) at two large obstetric centres in Denmark, 2707 had blood samples drawn before and 30 min after CVS for maternal serum-alpha-fetoprotein (MSAFP) measurement. 2535 of these women had cytogenetically normal pregnancies and 2091 of them went on to have samples drawn at the 18–20 week follow-up. Post-procedure MSAFP values were correlated to the biopsy method used, with mean MSAFP values significantly higher after TA than TC, 33 and 15 kU/l, respectively (P<0·001). Following TA procedures, 18 per cent of cases had feto-maternal transfusion higher than 0·1 ml; this occurred in only 5 per cent of TC cases. MSAFP levels were associated with spontaneous fetal loss in the TA group but not in the TC group. TC, however, was followed by more losses than TA. The post-CVS MSAFP value was positively correlated with the amount of villi aspirated. The difference in post-procedure elevation in MSAFP 30 min later (average 18 kU/l higher for TA than for TC) was not reflected in raised levels at the 18–20 week follow-up. Study medians at mid-trimester did not differ from reference group medians established from a group of singleton pregnancies with sonographically determined gestational age who did not experience invasive procedures and delivered normal infants. Our findings suggest that CVS does not compromise mid-trimester MSAFP for screening for neural tube defects (NTDs). Extremely high mid-trimester MSAFP values in the TC group could predict imminent loss.     

污染源半定量化的地下水有机污染风险评价

结合细河沿岸地区水文地质条件及地下水有机污染特征,通过AHP法确定权重,建立DRSIC模型,将评价结果与污染源荷载评价叠加,构建研究区有机污染风险评价模型.并通过研究区有机污染特征检验模型的合理性.结果表明:区内大部分地区有机污染风险中等或低.只有细河沿岸、杨士至于洪区一带污染风险处于高水平.评价结果较好的符合研究区有机污染现状.     

‘Late CVS’ international registry compilation of data from 24 centres

Data on 2058 late CVS cases, i.e., placental biopsies after 12 completed weeks of pregnancy, were collected from 24 centres. Two major groups of indications with or without ultrasound findings suspicious of fetal chromosomal abnormalities can be differentiated. In the first group, the rates of cytogenetic anomalies (21 per cent) and fetal losses (10 per cent) are high. The respective figures for the low-risk group are 6 per cent for chromosome anomalies and 2 per cent for total fetal losses. To evaluate this rapidly spreading new method further, more data are required and will be collected by the CVS registry based in Philadelphia, U.S.A.     

In situ hybridization studies for the detection of common aneuploidies in CVS

We have attempted to evaluate the efficiency of interphase cytogenetics in the detection of specific aneuploidies in chorionic villus samples. For this purpose, we used alphoid repetitive sequences specific for the chromosomes involved in the common aneuploidies, namely probes for chromosomes 13, 18, 21, X, and Y. These probes were applied to normal and abnormal CVS cases, as well as to a few mosaic cases. Results from these preliminary studies indicate that the technique can be very efficient for the detection of specific aneuploidies and can be particularly useful in the analysis of mosaic cases, which usually requires the screening of high number of metaphases.     

轻型汽油车简易瞬态工况法与定容全流稀释采样法(CVS)的排放相关性

选取25辆国2~国5标准在用轻型汽油车分别采用简易瞬态工况法(VMAS)与定容全流稀释采样法(CVS)开展了排放实测,分析了两种方法实测的排放因子相关性.结果表明,轻型汽油车排放水平总体随排放标准提升而呈下降趋势,国2和国3标准车辆中存在一定的高排放现象,国4及以上标准车型排放相对较低.VMAS和CVS方法的排放相关性随标准提升而显著下降,对国4及以上标准车辆的CO和HC+NO_x排放的相对偏差分别达到197%和177%.对较高排放车辆,两种方法检测结果的相关系数达到0.75~0.85;对较低排放车辆,相关系数仅为0.46左右,若将在用车排放标准进一步收严,采用VMAS检测的误判率将显著上升.随着我国机动车排放水平的不断下降,总体来看,VMAS检测对高排放标准车辆的适用性相对较差,有必要在用车排放检测方法方面开展更为深入的研究.     

Comparison of transabdominal and transcervical CVS and amniocentesis: Sampling success and risk

A total of 2931 women randomized to either transabdominal CVS, transceirvical CVS, or amniocentesis were studied. Unless intended or unintended abortion had occurred, they had completed up to 28 weeks of pregnancy. No significant difference was seen between total fetal loss in the transabdominal CVS group and the amniocentesis group (6.5 and 6.8 per cent, respectively, SE difference = 0.92 per cent, p = 0.01). The total fetal loss in the transcervical CVS group was 10.1 per cent. After pooling our data with data from the Canadian randomized study and the American non-randomized study, the difference in risk between trans-cervical CVS and amniocentesis was 1.8 per cent (SE difference = 0.64 per cent, p = 0.8). When the number of failed procedures and those cases evaluated as infeasible for the assigned method-for anatomical reasons-are compared, the overall sampling efficacy is poorer transcervically than transabdominally.     

太湖蓝藻水华灾害风险分区评估方法研究

通过对太湖蓝藻水华灾害风险分析,构建太湖蓝藻水华风险评估指标体系,结合风险评估概念,建立太湖蓝藻水华灾害风险评估方法.在此基础上,以2008年为基准年,结合太湖9个分区,评估各湖区蓝藻水华灾害危险性、易损性、脆弱性和综合风险.结果表明,综合风险最大的区域集中在太湖的北部,尤其作为水源地的贡湖风险最大,为重度风险;竺山湖、梅梁湾和西部沿岸由于其危险性较大,而总体风险较大,为中度风险;其他湖区风险较小,胥湖、南部沿岸和大太湖为轻度风险;太湖的东南部湖区箭湖东茭咀和东太湖由于水体富营养化程度较低,植物覆盖率较高,蓝藻水华发生危险性较小,综合风险指数较小,为轻微风险.     

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.     

46,XY,dup(10q) in direct CVS preparation and mosaic 48,XXXY,dup(10q) in CVS long-term culture and fetal tissue

Chorionic villus sampling (CVS) was performed on a 40-year-old woman at 9 1/2 menstrual weeks because of advanced maternal age. The direct preparation showed 46,XY,dup(10)(q11.2q23.2). CVS long-term culture and fetal tissue revealed a rare additional abnormality: 48,XXXY,dup(10)(q11.2q23.2). This abnormality represented the major cell line (>85 per cent in 691 cells) in an (XY)/XXY/XXXY/(XXXXY) mosaic (all cell lines presumably bearing the dup(10q); the presence of XY and XXXXY cell lines is uncertain). To our knowledge, this is the first report of trisomy 10q11-q23 and of prenatally detected 48,XXXY in chorionic villi. The mosaic could have resulted from early post-zygotic non-disjunctions in a 46,XY,dup(10q) or 47,XXY,dup(10q) zygote. The results from DNA studies of four polymorphisms, mapped to Xp and Xq, support this theory. The literature on prenatally detected cases with sex chromosome tetrasomy and pentasomy and those with additional autosomal abnormalities is reviewed. The reported case underlines the problem of false-negative findings when only direct CVS preparations are karyotyped.