Transabdominal villus sampling in early second trimester: A safe sampling method for women of advanced age

Transabdominal chorionic villus sampling (TA-CVS) was performed in 707 viable singleton pregnancies to exclude chromosomal abnormalities. Maternal age ranged between 36 and 49 years (mean 37·9 years); gestational age varied between 10·2 and 18·3 weeks (mean 13·3 weeks). In 639 women (90·4 per cent), a sufficient amount of chorionic tissue (⩾ 10 mg) was obtained after one needle insertion; in 66 women (9·3 per cent) two insertions were needed. An abnormal chromosome pattern was established in 19 cases (2·9 per cent). Vaginal bleeding or spotting within 28 days after TA-CVS occurred in 11 cases (1·5 per cent). The completed follow-up of 678 chromosomally normal pregnancies showed an overall fetal loss rate of 2·6 per cent before 28 weeks. The overall perinatal mortality was 0·9 per cent. When relating fetal loss to gestational age at TA-CVS, this was 6·6 per cent in women sampled before 12 weeks against only 1·8 per cent after 12 weeks. At the same time, the percentage of fetal loss occurring within 2 weeks following the procedure was 75 and 30 per cent, respectively. It is suggested that these data reflect the decline in spontaneous abortion rate during this particular period of pregnancy. It is concluded that TA-CVS is an effective procedure which, when performed after the natural decrease of fetal loss, appears to be a safe option for women of advanced maternal age.     

First-trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: Report of eight cases

Eight pregnancies at risk for cystic fibrosis have been monitored by first-trimester prenatal diagnosis with DNA amplification analysis. The polymerase chain reaction (PCR) was used in all cases to amplify the region detected by KM 19. In two cases, the region detected by CS·7, another DNA probe tightly linked to the CF locus, was also examined. The results of the PCR determinations were confirmed using the Southern blotting procedure, by segregation analysis of restriction fragment length polymorphisms (RFLPs) relative to XV-2c, J3·11, metH, metD, and KM19 probes.     

Transabdominal chorionic villus sampling in the second trimester of pregnancy: Feto-maternal transfusions in relation to pregnancy outcome

Volumes of feto-maternal transfusions (FMTs) in transabdominal chorionic villus sampling (TACVS) in the second trimester of pregnancy were calculated from the difference between maternal alpha-fetoprotein (AFP) concentrations before and 1 h after TACVS. In 50 pregnancies, there existed no correlation between FMT volume and the amount of villi collected or the number of TACVS attempts. The expected risk of fetal exsanguination due to very voluminous FMT could not be substantiated. In one case, immunization could have been the cause of hydrops fetalis, although only a volume of 0.15 ml could be calculated.     

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.     

Amniocentesis rate and the detection of down syndrome and other chromosomal anomalies in Israel

We investigated the contribution of different screening criteria to the prenatal detection of Down syndrome (DS) as well as other chromosomal anomalies in the Jewish population in Israel during 1990 and 1992. There was a significant decrease (P<0·03) in the incidence of DS live-births during 1992 (40:78 442) compared with 1990 (69:73 751) which paralleled a marked increase in total prenatal testing and in DS cases detected prenatally. Private laboratories, which perform amniocenteses mostly for women with a low risk of DS and without genetic counselling, had a significantly lower detection rate (1:917) compared with that of the genetic institutes, which following genetic counselling test both women ≥ 37 years of age (1:91) and women younger than 37 years (1:113). The detection of chromosomal anomalies other than DS was less affected by the reason for amniocentesis. Amniocentesis indicated by maternal serum marker screening of women younger than 37 years identified a greater number of chromosomal anomalies other than DS than amniocentesis based on age (≥37 years) alone (111:9604 versus 94:9810; P<0·06). Prenatal detection of DS is most effective when the indication for amniocentesis follows genetic counselling. The increasing use of maternal serum marker screening leads to a significant improvement in the positive detection rate of chromosomal anomalies other than DS in young women.     

Transabdominal chorionic villus sampling. Clinical experience of 1159 cases

The efficacy and risks of transabdominal free-hand ultrasound-guided fine needle aspiration technique were evaluated in 1159 pregnancies submitted to chorionic villus sampling (CVS) in the first trimester and early in the second trimester. An adequate amount of chorionic tissue was obtained by two needle insertions in 99·7 per cent of cases, and a second tapping was needed in 3·5 per cent of cases. A local peritoneal reaction was the only early complication clearly related to the procedure, and it occurred in 0·3 per pent of cases without any adverse effect on the maternal and fetal outcome. The correct abortion rate in 716 consecutive concluded pregnancies was 2·4 per cent, while the rate of late obstetrical complications and perinatal mortality and morbidity compares favourably with the rates in the general population. Because of its simplicity and practicability, transabdominal aspiration is the procedure of choice and is especially recommended fonintensive CVS routine conditions.     

Transverse limb reduction defects after chorion villus sampling: A retrospective Cohort study

A retrospective cohort study was performed in five Italian obstetrical centres from 1984 to 1991 in order to verify the association between chorionic villus sampling (CVS) and transverse limb reduction defects (TLRDs). TLRD rates by period of gestation at CVS were calculated, and the study's results were compared with data from the general population. Of the 3430 pregnancies for which CVS was performed, 2759 had a known outcome. The overall rate for TLRDs was 1 in 1143 CVS pregnancies, four times higher than that of the general population in Italy (1 in 4458). The rate of TLRDs was 2·9/1000 for CVS performed at 9 weeks' gestation and 1·0/1000 for CVS at 10 weeks' gestation. A scalp defect was detected in a pregnancy in which CVS was performed at 10 weeks. A high proportion of pregnancies lost to follow-up and the poor quality of the data may have affected the results. Nevertheless, our results suggest an association between CVS carried out at less than 10 weeks' gestation and TLRDs which is consistent with the findings of other studies. CVS should not be prepared at less than 10 weeks' gestation until additional evidence is obtained.