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 (greater than or equal to 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.     

Transcervical (TC) and transabdominal (TA) CVS for prenatal diagnosis in Rotterdam: experience with 3611 cases.

Data from 3611 consecutive CVS (TC, N = 1780; TA, N = 1831) were analysed with emphasis put on influence of maternal and gestational age at CVS on the fetal loss rate less than 28 weeks. For TC-CVS the gestational age varied from 9.3-11.6 weeks, for TA-CVS from 9.3-20 weeks. Sampling efficacy at first attempt was 86.5 per cent and 95 per cent respectively. In 4.6 per cent an abnormal result was established. In older mothers (N = 2362) the fetal loss rate was significantly higher (p = less than 0.05) when sampled before 12 weeks (TC-CVS 6.2 per cent, TA-CVS 5.8 per cent). When the CVS (TA) was performed after 12 weeks the fetal loss rate decreased to 2.4 per cent. In 1079 younger women the fetal loss rate remained low (TC 2.8 per cent; TA less than 12 weeks 1.8 per cent; TA greater than 12 weeks 1.7 per cent) and was not influenced by gestational age at the time of sampling. We concluded both methods safe and reliable when the choice of application considers maternal age.     

Transabdominal chorionic villus sampling for fetal genetic diagnosis. Technical and obstetrical evaluation of 100 cases

First trimester fetal diagnosis was established in 100 pregnancies at risk by transabdominal chorionic villus sampling (TA-CVS). Forty-eight per cent of the women were 35 years or more at the time of sampling. Using the double needle technique, both the aspiration and the diagnostic success rate were 100 per cent. The mean amount of villi aspirated was 28.2 mg (10-50 mg). The mean needle time was 3 min. Vaginal spotting appeared in 2 per cent of the women. Four women had therapeutic abortion due to abnormal findings and one for social reasons. Three fetuses with normal karyotypes were lost. Excluding the therapeutic abortions, the fetal loss rate was 3.2 per cent. The fetal loss rate in the amniocentesis control group (n = 200) was 3.6 per cent. The cytogenetic diagnosis was carried out by the direct preparation technique as well as by chorion villus cultivation. All karyotypes were confirmed by lymphocyte cultures from umbilical cord blood or heel blood from the newborn or from aborted fetal tissue. Transabdominal CVS is deemed a safe and easy tool for achieving chorionic villi in the first trimester.     

Evaluating the rate and risk factors for fetal loss after chorionic villus sampling

OBJECTIVE: To estimate the fetal loss rate in our center and evaluate the risk factors associated with such losses after chorionic villus sampling (CVS). METHODS: This is a retrospective cohort study including all women undergoing chorionic villus sampling and a control group that had no invasive procedure at a single center over a 16-year period. Fetal loss was defined as any loss before 24 weeks of gestation. Univariable and multiple logistic regression analyses were used to compare pregnancies resulting in fetal loss to those without a loss and to adjust for potential confounders between the groups. RESULTS: Of 5,243 women who had CVS who were compared with 4,917 women seen before 14 weeks who had no invasive procedure, there were 138 (2.7%) fetal losses before 24 weeks of gestation in the CVS group compared with 161 (3.3%) in the control group (relative risk 0.80, 95% confidence interval, 0.64-1.0). The difference in loss rate of -0.7% (95% confidence interval, -0.02 to 1.3) between the CVS group and those who had no procedure was not statistically significant at P<.05. The significant risk factors for fetal loss were African-American maternal race, at least two aspirations/needle insertions, heavy bleeding during CVS, maternal age younger than 25 years, and gestational age at performing CVS before 10 weeks. CONCLUSION: The estimated fetal loss rate after CVS was not significantly different from the group that had no procedure. Significant predictors of fetal loss after CVS were identified, but the accuracy of the final model for predicting fetal loss was only modest.     

Evaluation of transcervical chorionic villus sampling with a completed follow-up of 1550 consecutive pregnancies

Data from 1,550 consecutive pregnancies after first-trimester prenatal diagnosis by transcervical chorionic villus sampling (TC-CVS) are presented. The sampling efficacy was 97.8 per cent; the mean amount of collected villus tissue was 23 mg (range 5-100 mg). There were 97 affected fetuses, mainly (73.2 per cent) with a chromosomal abnormality or a male karyotype in carriers of X-linked disease. Pregnancy termination in these and four other women for social reasons resulted in 1449 continuing pregnancies. In these pregnancies, the fetal loss rate up to 28 weeks of gestation was 5.1 per cent with the highest loss rate (3.9 per cent) before 16 weeks. When relating this fetal loss rate to maternal age, this was 6.1 per cent in the advanced maternal age group (greater than or equal to 36 years) against 3.1 per cent in the younger age group. In 1,376 pregnancies continuing beyond 28 weeks, the perinatal mortality rate was 1.1 per cent; the percentage of non-genetic congenital anomalies was 0.9 per cent. The reproductive pattern of women at high genetic risk after CVS followed by pregnancy termination was evaluated. Within 12 months after the first CVS followed by pregnancy termination, 70 per cent of women again requested CVS in a subsequent pregnancy.     

Prenatal diagnosis in advanced maternal age. Amniocentesis or CVS, a patient's choice or lack of information?

Ninety-six women of advanced maternal age were interviewed about the way they obtained information on prenatal diagnosis and about how the decision was made as to what procedure was to be performed (transabdominal chorionic villus sampling (TA-CVS) or amniocentesis). In the CVS group, women visited their physician or midwife earlier in pregnancy (mean 7.1 weeks) than those in the amniocentesis group (mean 10.7 weeks). The availability of prenatal diagnosis was not mentioned during the first antenatal visit in 55 per cent of women from the amniocentesis group as opposed to 25 per cent from the TA-CVS group. Approximately 40 per cent of women eligible for prenatal diagnosis did not receive any information from the referring body prior to counselling at our centre. Only 29 per cent of women who underwent amniocentesis had actually chosen this procedure; 71 per cent were too late to undergo TA-CVS at 12 weeks. It is concluded that information to the patient must be improved in order to ensure early referral for prenatal diagnosis.     

A prospective study of spontaneous miscarriage in ultrasonically normal pregnancies and relevance to chorion villus sampling

A total of 1,068 patients were examined by ultrasound to ensure normality of pregnancy and followed prospectively from booking until 28 weeks. The spontaneous miscarriage rate was 2.7 per cent occurring within the first 16 weeks. Threatened miscarriage was associated with a 38 per cent fetal loss. Miscarriage was less likely as pregnancy advanced. The reduction in subsequent miscarriage rate before 11 weeks and from 11 weeks onwards is statistically significant (p less than 0.001). Gravidity, maternal age and a history of previous fetal loss did not contribute significantly to the miscarriage rate. Patients with a history of fetal loss were more likely to experience a threatened miscarriage. The relevance of these findings to chorion villus sampling is discussed.     

Prolonged fetal ritodrine exposure and immediate neonatal outcome

Ritodrine hydrochloride was administered over a period of two years to a total of 200 women in premature labor. One hundred sixty-two (81 per cent) of the women carried pregnancy to 35 weeks or longer. To determine the effect of ritodrine on the neonates, the duration and amount of exposure, onset of exposure, and interval between cessation of exposure and delivery were correlated with gestational age, birth weight, Apgar scores, mortality, and the presence of hypoglycemia, hyperbilirubinemia, respiratory distress, and intrauterine growth retardation. Infants exposed for six weeks or more (long-term exposure) were significantly heavier than those exposed for shorter periods (short-term exposure), a difference that was possibly attributable to differences in gestational age at birth. Infants who were exposed as fetuses to ritodrine beginning at 30 weeks' or less gestation needed phototherapy more often than did infants whose fetal exposure began at after 30 weeks' gestation. Neither duration of exposure nor gestational age at birth was a significant factor in hyperbilirubinemia. Of infants delivered at or after 35 weeks' gestation, 32 (20 per cent) experienced early hypoglycemia; and 26 of these (81 per cent) were exposed up to the day of delivery. This outcome differed significantly from that of infants whose exposure stopped at least one week before delivery. In addition, respiratory distress syndrome was more common in those infants exposed up until delivery (34 of 36).(ABSTRACT TRUNCATED AT 250 WORDS)     

Chorionic villus sampling for prenatal diagnosis in Wales using DNA probes--5 years' experience

Chorionic villi were sampled from 125 women who requested prenatal diagnosis, either for genetic disorder or because of advanced maternal age. Of these, 105 samples were obtained by the transcervical route and 20 were obtained by the transabdominal approach. The sampling success rate was 97 per cent (122/125). The mean maternal age of the patients was 31 years (range 17-44) and the mean gestational age at which the chorionic villus sampling was performed was 10 weeks (range 7-13 weeks). Seventy-four of these diagnoses involved the use of DNA markers. The minimal size of the sample used for DNA diagnosis was 5 mg. Maternal contamination was detected in two samples. A diagnosis was provided on all but two samples. The fetal loss rate was high initially but fell to 1.9 per cent in 1988.     

Randomized clinical trial of transabdominal versus transcervical chorionic villus sampling methods

The relative advantages and disadvantages of transabdominal (TA) and transcervical (TC) chorionic villus sampling (CVS) in terms of fetal risks and efficacy were evaluated in a clinical trial conducted on 1194 women randomized at 7-12 weeks' gestation. The results of the study indicate that, if any, the relative risk of fetal loss following either procedure is less than double that of the alternative technique when performed by a skilled operator. Overall, the fetal loss rate (spontaneous abortions following randomization, terminations of pregnancy, and perinatal deaths) is 16.5 and 15.5 per cent, respectively, among women allocated to TA- and TC-CVS. The two procedures are equally effective, although TA-CVS is associated with a significantly lower rate of repeat device insertions; on the other hand, a higher weight of chorionic tissue is obtained, on average, with TC-CVS. Bleeding is more common following TC-CVS, while peritoneal reaction developed only after TA-CVS. No diagnostic problems specifically related to one sampling technique were identified.     

Incidence of abortion after genetic amniocentesis in twin pregnancies.

Fetal outcome after genetic amniocentesis (AC) in viable twin pregnancies was analysed in a retrospective study at three centres in order to estimate the rate of fetal loss after AC. The maternal age ranged from 33 to 45 years (mean 36.7 years). The gestational age varied between 15 and 20 weeks of gestation (mean 17.1). In 98 viable twin pregnancies with complete follow-up, spontaneous abortion of both fetuses occurred within 28 completed weeks of gestation in eight pregnancies and six women aborted within 20 completed weeks of gestation after AC, corresponding to a rate of fetal loss of 8.1 and 6.1 per cent, respectively (excluding the loss of five twins with viable outcome of the co-twin in five pregnancies).     

Comparison of transabdominal and transcervical CVS and amniocentesis: sampling success and risk.

A total of 2931 women randomized to either transabdominal CVS, transcervical 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 transcervical 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 unfeasible for the assigned method--for anatomical reasons--are compared, the overall sampling efficacy is poorer transcervically than transabdominally.     

无创基因检测筛查胎儿染色体异常的效果及其与孕妇年龄和检测孕周相关性的探讨

目的 分析我院无创基因检测对胎儿常见染色体非整倍体异常的检测效果,探讨不同检测孕周、孕妇年龄与检测效果指标的相关性.方法 选择自2013年6月至2019年4月在北京大学深圳医院行无创产前基因检测(non-invasive prenatal DNA testing,NIPT)的孕妇,对检测结果高风险者进行羊水染色体核型分...     

早孕期经腹绒毛活检及细胞遗传学分析在染色体疾病产前诊断中的应用

目的:研究早孕期B超引导下经腹绒毛取材以及绒毛细胞长期培养和染色体制备方法,评价早孕期细胞遗传学分析在产前诊断中的应用价值。方法:回顾分析2001年1月到2005年12月77例早孕期产前细胞遗传学诊断的病例资料。结果:77例平均35.2岁,均为单胎妊娠。取材时间9~13周,平均10.69周,平均取材量为20.6mg,穿刺成功率100%,操作相关的自然流产率为1.3%,因取材不足无法进行产前诊断率为0,母体组织污染率为0。1例培养失败,培养成功率为98.7%,平均培养时间为5~7天,培养过程中细菌污染率为0。发现异常核型5例,限制性胎盘嵌合体2例。因胎儿受累终止妊娠11例,已分娩正常新生儿27例,继续妊娠者34例。结论:孕9周后行B超引导下经腹绒毛取材是一项安全可行的早孕期介入性产前诊断方法。绒毛细胞长期培养法和染色体制备方法简单、技术稳定、结果可靠,可用于胎儿染色体疾病的产前诊断。     

Maternal serum alpha-fetoprotein and diabetes mellitus.

Maternal serum alpha-fetoprotein (AFP) levels were measured from 12 to 24 weeks gestation in 27 singleton pregnancies in women with insulin-dependent diabetes mellitus and 90 controls without diabetes who were matched for gestational age. The geometric mean AFP level among the diabetic pregnancies was 60 per cent of that in the controls, a difference which was statistically significant (P less than 0.01). The difference in AFP level between diabetic patients and controls was most marked in sera taken before 21 weeks gestation.     

Measuring the rate of fetal urine production using three-dimensional ultrasound during normal pregnancy and pregnancy-associated diabetes

Abstract

Objective: To establish a nomogram of fetal urine production according to gestational age as a predictor for fetal well-being in normal and diabetic women.

Study design: Prospective observational study included 180 pregnant women classified into two groups: Group I (120 women) without any medical complications and Group II (60 women) with gestational diabetes mellitus (GDM). The fetal bladder is measured by the virtual organ computer-aided analysis VOCAL 3D ultrasound scanner.

Results: There was a significant positive correlation between gestational age and fetal urine production rate (UPR) (the mean UPR rate in normal pregnancy at 25, 30, 35, 40 weeks were 12.3, 14.38, 56.13 and 90.73?ml/h, respectively). There was no significant difference regarding UPR ml/h between women with normal pregnancy and those with controlled GDM (p?=?0.9). There was a statistically significant difference regarding UPR ml/h between women with normal pregnancy and those with uncontrolled GDM (p?=?0.012) and a statistically significant difference between women with controlled GDM and those with uncontrolled GDM (p?=?0.03).

Conclusion: Fetal UPR is considered to be more reliable as an assessment method for fetal well-being and shows significant increase in patients with uncontrolled gestational DM.     

Chorionic villus sampling: a 15-year experience

The authors describe experiences gained over the period of 1984-1999 at two medical centers with chorionic villus sampling (CVS). Altogether 1,149 CVSs had been performed between the 10th and 32nd gestational weeks. Prior to 1993 the transcervical approach (TC-CVS), after 1994 the transabdominal method (TA-CVS) was used. Analysis of data collected within the framework of this study was based on the following factors: indications for sampling, complications and incidence of pregnancy loss. 91.6% of the CVSs were carried out for the purposes of cytogenetic examination of the fetus. Over the past few years an increasing number of procedures had been carried out for molecular-genetic tests (7.6% of the total number of cases). Though the primary indication for cytogenetic tests was the advanced age of the mother, a remarkable increase in the number of samplings had taken place for the purpose of examining "suspicious ultrasound findings", minor anomalies detected by ultrasound. In this group the proportion of pathological cases was significantly higher (14%) than in all the other samplings, carried out for other indications. This data in itself underlines the importance of ultrasound screening performed in the 18-20th weeks of gestation. Over the first half of the period being reviewed (1984-1993, TC-CVS), a fetal loss of 4.8% occurring within 3 weeks from the date of sampling, dropped to 1.7% in the period subsequent to year 1994 (TA-CVS). In cases of TA-CSV, both the complications and spontaneous abortions were fewer. In 74.1% of the cases studied, birth had taken place after the 37th week of gestation. Premature births (6.4%) and stillbirth rate (1.1%) did not exceed normal rates observed in the general population. On the basis of our results, it is safe to say that in prenatal diagnosis, TA-CVS is a real alternative method of mid-trimester amniocentesis and it is recommended for use at any stage of the pregnancy.     

First trimester chorionic villus sampling versus mid-trimester genetic amniocentesis--preliminary results of a controlled prospective trial

This controlled prospective study assesses the relative risks of first trimester chorionic villus sampling (CVS) versus mid-trimester gentic amniocentesis (GA). CVS subjects and amniocentesis controls were comparable with regard to several confounding variables which might influence the risk of pregnancy loss including maternal age, smoking, alcohol consumption, gestational age at study entry, and history of vaginal bleeding or poor prior reproductive outcome. The most common indication for prenatal diagnosis was advanced maternal age (n = 511). In this subgroup, spontaneous abortion (less than 24 weeks) occurred in 2.9 per cent of CVS subjects versus 4.3 per cent of amniocentesis controls. The sum of spontaneous and therapeutic abortions (less than 24 weeks) was identical (5.3 per cent) in both groups. Therefore, intervention in the CVS group (i.e., therapeutic abortion for cytogenetic abnormalities) did not influence the observed risk of pregnancy loss. Overall perinatal mortality rates were also similar in both groups. No significant differences were identified for a number of pregnancy outcome parameters including 5 min Apgar score, birth weight, body length, head circumference, gestational age at delivery, preterm delivery, fetal growth retardation, congenital malformations, and neonatal complications. Preliminary results of this controlled prospective study suggest that chorionic villus sampling carries a low and acceptable risk.     

Chorionic villus sampling is associated with normal fetal growth

Seventy-eight singleton term neonates, delivered of women who were 35 years of age or older after chorionic villus sampling at 9 to 11 weeks' gestation, were compared with 1335 singleton control neonates delivered at term of mothers 35 years of age or older before the clinical application of chorionic villus sampling at our institution. No statistically significant differences were found in birth weight, crown-heel length, or ponderal index between control neonates and neonates delivered after chorionic villus sampling. The sample sizes necessary to detect a 5% difference in population means at an alpha error level of 0.05 and beta error level of 0.1 were calculated for the measured variables and achieved before analysis. This study suggests that patients undergoing chorionic villus sampling are not at increased risk for the development of decreased fetal growth or intrauterine growth retardation.     

妊娠合并重度肺动脉高压28例临床分析

目的:探讨妊娠合并重度肺动脉高压患者的妊娠结局。方法:对2000年11月至2011年3月我院产科收治的28例妊娠合并重度肺动脉高压患者的临床资料进行回顾性分析。根据发生重度肺动脉高压的孕周,将患者分为4组:<28周为Ⅰ组,28～31+6周为Ⅱ组,32～35+6周为Ⅲ组,≥36周为Ⅳ组。结果:原发性肺动脉高压(PPH)1例,继发性肺动脉高压(SPH)27例(风湿性心脏病16例,先天性心脏病11例);心功能Ⅰ～Ⅱ级4例,心功能Ⅲ～Ⅳ级24例;足月分娩12例,早产10例,中孕引产6例;剖宫产21例,阴道分娩1例;产妇死亡2例,极低出生体重儿1例,新生儿窒息5例,新生儿死亡1例。Ⅲ组患者肺动脉压力明显高于Ⅰ组、Ⅳ组,差异有统计学意义(P<0.05);Ⅰ组患者医源性胎儿丢失率明显高于Ⅲ组、Ⅳ组,差异有统计学意义(P<0.05);Ⅳ组患者足月分娩明显多于Ⅱ组、Ⅲ组,差异有统计学意义(P<0.05);新生儿窒息率比较,差异无统计学意义(P>0.05)。结论:妊娠合并重度肺动脉高压患者,孕32～35+6周肺动脉压力达高峰;围生儿结局与发生重度肺动脉高压的孕周、心功能级别有关,发生重度肺动脉高压孕周越小,心功能越差,医源性胎儿丢失率越高,围生儿结局越差;早中期妊娠患者建议尽早终止妊娠,晚期妊娠以剖宫产为宜。