Transabdominal Chorionic Villus Sampling Research Articles

Procedural Safety, Efficacy, and Outcome of Exclusive Transabdominal CVS For Prenatal Diagnosis of Genetic Disorders

Procedural Safety, Efficacy, and Outcome of Exclusive Transabdominal CVS For Prenatal Diagnosis of Genetic Disorders

Comparative analysis of obstetric, perinatal, and neurodevelopmental outcomes following chorionic villus sampling and amniocentesis.

The risks of invasive prenatal tests are reported in previous studies such as miscarriage, fetal anomalies, and bleeding. However, few compare short-term and long-term outcomes between invasive tests. This study aims to investigate obstetric, perinatal, and children's neurodevelopmental outcomes following chorionic villus sampling (CVS) or amniocentesis in singleton pregnancy. This retrospective cohort study included healthy singleton pregnancies underwent transabdominal CVS (gestational age [GA] at 10-13 weeks) or amniocentesis (GA at 15-21 weeks) at a single medical center between 2012 and 2022. Only cases with normal genetic results were eligible. Short-term and long-term neurodevelopmental outcomes were evaluated. The study included 200 CVS cases and 498 amniocentesis cases. No significant differences were found in body mass index, parities, previous preterm birth, conception method, and cervical length (CL) before an invasive test between the groups. Rates of preterm labor, preterm premature rupture of the membranes, preterm birth, neonatal survival, neonatal short-term morbidities, and long-term neurodevelopmental delay were similar. However, the CVS group had a higher rate of cervical cerclage due to short CL before 24 weeks (7.0%) compared to the amniocentesis group (2.4%). CVS markedly increased the risk of cervical cerclage due to short CL (adjusted odd ratio [aOR] = 3.17, 95%CI [1.23-8.12], p = 0.016), after considering maternal characteristics. Performing CVS resulted in a higher incidence of cerclage due to short cervix or cervical dilatation compared to amniocentesis in singleton pregnancies. This highlights the importance of cautious selection for CVS and the necessity of informing women about the associated risks beforehand.

A Low-Cost, High-Fidelity Simulator for Transabdominal Chorionic Villus Sampling.

Chorionic villus sampling (CVS) remains essential for first-trimester genetic diagnosis, yet clinical volume may be insufficient to train new clinicians in the technique. Available simulation models are expensive, require animal parts or specialized resins, and cannot be stored for repeated use. We present a model for trans-abdominal CVS (TA-CVS) which is constructed from readily available materials costing less than $10 and can be refrigerated and re-used to train maternal-fetal medicine fellows in CVS. All three attending physicians performing TA-CVS at our institution described the model as an accurate visual and tactile simulation, prompting its integration into our fellowship curriculum. To date, two senior fellows have achieved competency on the simulator and begun to perform clinical CVS under supervision, one of whom is an author on this paper. Both fellows and attendings indicated that the simulator provided a valuable tool for repeated practice prior to clinical CVS. Simulators are now maintained on the unit and have been re-used for 3 months and dozens of simulated procedures each without any apparent qualitative degradation in performance. We describe a low-cost easily constructed, durable, high-fidelity simulator for TA-CVS.

When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes.

Objective: To assess the performance of diverse prenatal diagnostic approaches for nuchal translucency (NT) thickening and to investigate the optimal prenatal screening or diagnostic action with a NT thickening of 95th percentile-3.50mm. Methods: A retrospective analysis of 2,328 pregnancies with NT ≥ 95th percentile through ultrasound-guided transabdominal chorionic villus sampling (CVS), amniocentesis, or cordocentesis obtained clinical samples (chorionic villi, amniotic fluid, and cord blood), and real-time quantitative fluorescent PCR (QF-PCR), chromosome karyotyping (CS), chromosome microarray analysis (CMA), or whole exome sequencing (WES) were provided to identify genetic etiologies. Results: In this study, the incidence of chromosomal defects increased with NT thickness. When NT ≥ 6.5mm, 71.43% were attributed to genetic abnormalities. The 994 gravidas with fetal NT thickening underwent short tandem repeat (STR), CS, and CMA. In 804 fetuses with normal karyotypes, CMA detected 16 (1.99%) extra pathogenic or likely pathogenic copy number variations (CNVs). The incremental yield of CMA was only 1.16% (3/229) and 3.37% (10/297) in the group with NT 95th percentile-2.99mm and NT 3.0-3.49mm, separately. Among the 525 gravidas with fetal NT thickening who underwent STR, CMA, and WES, the incremental yield of WES was 4.09% (21/513). In the group of NT 95th percentile-2.99mm, there were no additional single-nucleotide variations (SNVs) detected in WES, while in 143 cases with NT of 3.0-3.49mm, the incremental yield of WES was 5.59% (8/143). Conclusion: In the group of NT 95th percentile-3.0mm, since chromosomal aneuploidy and chromosomal copy number variation were the primary causes and the additional contribution of CMA and WES was not significant, we recommend NIPT-Plus for pregnant women with a NT thickening of 95th percentile-3.0mm first. In addition, comprehensive prenatal genetic testing involving CMA and WES can benefit pregnancies with NT thickening of 3.0-3.49mm.

A Multi-centre Experience of Trans-abdominal Chorionic Villus Sampling in Pakistan.

To determine the safety and outcomes of trans-abdominal chorionic villus sampling technique. Observational study. Departments of Obstetrics and Gynaecology, PNS Shifa Karachi, Pak-Emirates Military Hospital Rawalpindi and CMH Lahore, from 2005-2020. Methodology: A total of 1530 consecutive chorionic villus samplings (CVS) were performed on pregnant females between 10-20 weeks of gestation using the transabdominal approach. Patients were subjected to integrated, stepwise sequential screening. Analysis of data was based on demographic features, indications for sampling, gestational age, attempts of CVS, needle aspiration time, assessment, placental location, sample yield, complications, pain estimation by visual analogue scale (VAS), CVS culture results and pregnancy outcomes. The most common indication for CVS was couple having thalassemia traits and history of having a thalassemia major child previously (55.2%). Pain was the most common complication (64.1%). Procedure-related pregnancy loss (considered to be till 20 weeks of gestation) was observed in two cases (0.1%) only. The most common abnormal karyotype was found to be β-Thalassemia trait (23.6%) followed by β-Thalassemia major (22.1%) and Trisomy 21(16.8%). No abnormality was detected in 33.5% of the cases. Five hundred and eighty-nine (38.4%) interruptions of pregnancies were done on the basis of CVS results. CVS is a safe and useful technique for sampling in prenatal diagnosis of genetic disorders, markedly affecting the management. Chorionic villus sampling, Pre-natal diagnosis, Karyotype.

Amniocentesis and chorionic villus sampling: Green-top Guideline No. 8 July 2021: Green-top Guideline No. 8.

Amniocentesis and chorionic villus sampling: Green-top Guideline No. 8 July 2021: Green-top Guideline No. 8.

The Effect of Trans-Abdominal Chorionic Villus Sampling on Fetal Heart Rate and Placental Vascular Resistance Index: A Color Doppler Ultrasound Study

Fetal hemodynamic changes can occur immediately following invasive chorionic villus sampling (CVS). We decided to study the possible effect of CVS on fetal heart rate (FHR), and uteroplacental resistance index (RI) changes using color Doppler ultrasound. Thirty-five pregnant patients with a gestational age of more than 12 weeks were included. Trans-abdominal CVS was done to assess the possibility of thalassemia. Before and after the CVS, color Doppler ultrasound was done to measure FHR and uteroplacental RI. Mean (SD) values for FHR before and after the CVS were 175.22 (±9) and 173.62 (±9.94) beats per minute, respectively; P=0.18. Mean (SD) uteroplacental RI before the CVS was 0.79 (0.07) which significantly increased to 0.82 (0.08); P=0.03. We observed a significant increase in resistance of blood flow in placental circulation after CVS. However, no significant change was observed regarding FHR after CVS.

Six-year experience of prenatal diagnosis for beta thalassemia in twin pregnancies and selective foetal reduction - A case series.

A retrospective study was conducted for prenatal diagnosis and selective foetal reduction, which included 41 beta thalassemia carrier couples with twin pregnancy. Chorionic villi sampling was carried out at 12-14 weeks of gestation. Thirty-three couples presented with dizygotic while eight had monozygotic twins. Molecular analysis for beta thalassemia revealed similar results in both the twins in 27 cases, while different results were obtained in 14 cases. Selective foetal reduction was offered to couples with discordant results. One miscarriage occurred due to the procedure. The results of prenatal molecular analysis were confirmed by postnatal molecular analysis. This series of trans-abdominal Chorionic villi sampling in twin pregnancies with the option of selective foetal reduction of the affected foetus was found to be useful as well as acceptable by the at-risk couples.

VP06.09: Procedure‐related risk of premature delivery and fetal growth reduction following amniocentesis, transcervical and transabdominal chorionic villus sampling: a retrospective study

VP06.09: Procedure‐related risk of premature delivery and fetal growth reduction following amniocentesis, transcervical and transabdominal chorionic villus sampling: a retrospective study

Correlation Between Transabdominal Chorionic Villus Sampling and Fetal Distress With Color Doppler Sonography

Chorionic villus sampling (CVS) is an invasive method for identifying genetic and metabolic diseases, which is done in the first trimester of pregnancy and can cause many complications. The aim of this study is the evaluation of the correlation between Transabdominal chorionic villus sampling and fetal distress in color Doppler sonography. This study is experimental (before and after). All pregnant women with minor thalassemia in which their husbands were suffering from minor thalassemia or have a history of a child with major thalassemia and after the 12th week of pregnancy were referred to the ultrasound department. RI for fetal Middle Cerebral Artery (MCA) and Umbilical Artery (UA) before and after of CVS were measured and then statistically analyzed using SPSS 22. CVS did not cause a significant increase in RI for the fetal middle cerebral artery (P>0.05). CVS did cause a significant increase in RI for the umbilical artery (P<0.05). Then, CVS did cause a significant decrease in the ratio of RI for fetal Middle Cerebral Artery to RI for Umbilical Artery (P<0.05). Based on these results, it seems that CVS can cause distress in the fetus.

The decline of amniocentesis and the increase of chorionic villus sampling in modern perinatal medicine.

Objective The aims of this study were to determine the rate of change by type of diagnosis by transabdominal chorionic villus sampling (TA-CVS) vs. amniocentesis for aneuploidy and to describe a successful and intensive international training program for TA-CVS in ongoing pregnancies. Methods We conducted a retrospective cohort study of all deliveries from 2010 to 2018 in Sardinia. All invasive diagnostic procedures are conducted at a single regional perinatal referral center. Descriptive statistics were used to compare data across groups, and inter-correlations between variables were investigated by Pearson's correlation coefficient. We subsequently describe the international trainee experiences in TA-CVS over a 35-year period. Results A total of 101,025 deliveries occurred over 9 years. The number of deliveries (13,413-9143, P < 0.0001) and total invasive diagnostic procedures (1506-858 per year, P = 0.019) declined over this period. The percentage of deliveries undergoing invasive diagnostic procedures remained steady (mean: 12.2%). In 2010, TA-CVS made up 32.3% of all invasive diagnostic procedures, while amniocentesis made up 67.7%. By 2018, TA-CVS made up 61.3% of the invasive diagnostic procedures, and amniocentesis, only 38.7%. The rate of TA-CVS increased over 9 years, while the rate of amniocentesis declined. A total of 236 trainees from 39 different countries and 5 different continents rotated through this site. The average length of stay was 2.4 weeks. Conclusion We demonstrate an increasing prevalence of TA-CVS vs. amniocentesis in the current era of prenatal testing and underscore the importance of continuing to train specialists skilled in TA-CVS. Our global operative experience is feasible and sustainable and will have a lasting impact on physicians conducting invasive fetal procedures.

Procedure related risk of premature delivery and fetal growth reduction following amniocentesis, transcervical and transabdominal chorionic villus sampling: a retrospective study.

Background The aim of this study was to compare transabdominal and transcervical chorionic villus sampling (CVS) as well as amniocentesis (AC) with respect to their rates of premature delivery and fetal growth restriction. Methods We retrospectively evaluated the mentioned procedures of invasive prenatal testing performed in a single center between 2001 and 2016. Seven hundred and ninety-nine cases of AC and 719 cases of CVS were included, of which 400 were performed transvaginally. Only singleton pregnancies with a normal karyotype and delivery after 24 + 0 weeks of gestation were included. Fetal growth restriction was defined as birth weight below the 10th percentile. Premature delivery was defined as delivery before 37 + 0 weeks of gestation. Data were compared to a control group without an invasive procedure. Results The frequency of premature delivery was 8.5% after transabdominal CVS, 6.3% after transcervical CVS and 10.5% after AC as compared to 10.8% in the control group. The frequency of fetal growth restriction was 8.2% after transabdominal CVS 6.8% after transcervical CVS and 8.4% after AC as compared to 9.7% in the control group. Conclusion Our study supports that the three different methods of invasive prenatal testing do not lead to a higher risk of either premature delivery or fetal growth restriction when compared to controls. We found no difference in risk profile among the three techniques.

Trials and tribulations of meta-analyzing procedure-related risks of amniocentesis and chorionic villus sampling.

Trials and tribulations of meta-analyzing procedure-related risks of amniocentesis and chorionic villus sampling.

Obstetrical outcomes after first-trimester chorionic villus sampling in twin pregnancies: A retrospective case-control study.

Prenatal diagnostic testing by chorionic villus sampling (CVS) is sometimes recommended for women with twin pregnancies. However, few studies have compared the outcomes between twins with CVS and control twins without intervention. This study aimed to compare the obstetrical outcomes of CVS in twin pregnancies and those in non-intervention twin pregnancies. First-trimester transabdominal CVS was performed on dichorionic-diamniotic twins (n = 54; Group 1) between December 2006 and January 2017 at the Department of Obstetrics and Gynecology at our hospital, and the data were retrospectively analyzed. CVS risks were evaluated by comparing obstetrical outcomes with those of a control population of 155 dichorionic-diamniotic twins without intervention (Group 2). The difference in the overall fetal loss rate (Group 1, 7.4% vs Group 2, 3.9%; P = 0.287) between the two groups was not statistically significant. The miscarriage rate, defined as delivery at <24 gestational weeks, and early preterm delivery, defined as delivery at <34 gestational weeks, were not significant between the groups (miscarriage: Group 1, 5.6% vs Group 2, 3.2%; P = 0.428; early preterm delivery: Group 1, 11.1% vs Group 2, 9.0%; P = 0.788). The mean gestational age at delivery, birth weights and neonatal intensive care unit admission rate were not statistically significant between the groups. Thus, the overall fetal loss rate and obstetrical outcomes of Group 1 were comparable with those of Group 2. In conclusion, the overall obstetrical outcomes were not significantly different between twins with CVS and control twins with the advantage of enabling early decision-making about selective feticide in twins with CVS.

Pain perception during transabdominal chorionic villus sampling: a randomized trial comparing topical ethyl chloride anesthetic spray and lidocaine injection

Background: Chorionic villus sampling is an important invasive procedure used for early antenatal genetic testing that can be associated with anxiety and fear of pain. Pain analgesia prior to chorionic villus sampling can be offered with subdermal lidocaine; however, lidocaine injection itself is associated with pain. Our objective was to determine whether administration of topical ethyl chloride anesthetic spray is associated with decreased pain perception during transabdominal chorionic villus sampling compared to 1% lidocaine subdermal injection.Study design: Women undergoing transabdominal chorionic villus sampling from 10 to 13 weeks and 6 days in an outpatient setting were randomized with equal allocation to either 1% lidocaine injection or topical ethyl chloride anesthetic spray prior to the procedure. Women were asked about their pain on a scale of 0–100 prior to, during, and after the procedure. The primary outcome was pain perception during time of transabdominal chorionic villus sampling as measured on a 100-mm visual analog scale. The secondary outcome was pain immediately after procedure.Results: From October 2016 to June 2017, a total of 120 women were enrolled (63 in the lidocaine injection group and 57 in the topical ethyl chloride anesthetic spray group). Baseline demographic characteristics were similar between groups. During the procedure, patients in the topical ethyl chloride arm demonstrated significantly higher pain scores compared to the lidocaine injection group (median score of 50 mm (interquartile range [IQR]: 40–65) versus 50 mm (IQR: 30–60); p = .03). There was no significant difference in pain scores before or after the procedure.Conclusion: During transabdominal chorionic villus sampling procedures, topical ethyl chloride anesthetic spray is associated with a higher distribution of pain scores as compared to 1% lidocaine subdermal injection, which suggests higher levels of pain.Clinical trial registration: This trial is registered with clinicaltrials.gov (NCT03140293). https://clinicaltrials.gov/ct2/show/NCT03140293?term=NCT03140293&rank=1.

Prenatal Diagnosis in the Netherlands

Prenatal invasive diagnosis of genetic conditions in the Netherlands is well organised, based on uniform indications and has a sound financial structure. Facilities for fetal karyotyping and DNA analysis are available in the 8 academic centres. Prenatal diagnosis of metabolic diseases is mainly carried out in Rotterdam. Amniocentesis, transcervical and transabdominal chorionic villus sampling are carried out in all centres, including 4 subcentres. The national Working Party on Prenatal Diagnosis started in 1985 and is a useful platform for all obstetricians and geneticists involved in prenatal diagnosis.

Managing pain and anxiety during transabdominal chorionic villus sampling. A noninferiority randomized trial of nitrous oxide vs local anesthesia.

Transabdominal chorionic villus sampling (CVS) is an invasive procedure for prenatal diagnosis reported to be associated with anxiety and pain. In this context, the need for analgesia during CVS has been considered useful. Even though several authors have been interested in pain management during amniocentesis, no study has been published on pain reduction during CVS. Our objective was to evaluate pain and anxiety management during transabdominal CVS using nitrous oxide (N2 O) and local anesthesia. In a randomized controlled noninferiority trial, self-administered nitrous oxide (N2 O) inhalation (equimolar premix of oxygen and nitrous oxide) was compared with local anesthesia (1% lidocaine) before CVS. Primary outcome was pain and secondary outcome was anxiety, both measured on a visual analog scale 30-60minutes before, immediately after (5-10minutes) and 30-60minutes after CVS. With a statistical power of 90%, type I error of 5% and two-sided test and potential exclusions, a sample size of 96 patients per group was enrolled and randomized. No patient was enrolled before the trial registration date. From 13 March 2013 through 10 February 2015, 192 patients (96 per group) were screened and randomized. Most characteristics were similar across groups. Pain in the N2 O group was 2.65±0.22 vs 3.32±0.26 in local anesthesia group [mean ± standard error of mean (SEM)]. Mean anxiety in the N2 O group was 3.17±0.27 vs 5.19±0.30 in the local anesthesia group. N2 O was as efficient and even superior to local anesthesia for both pain and anxiety reduction during CVS, as the 95% confidence intervals were both below the prespecified noninferiority margin of 0.8 and below zero.

Risk of Fetal Loss in Pregnancies Undergoing Midtrimester Amniocentesis after Inconclusive Chorionic Villus Sampling

Objective: To estimate the procedure-related risk of miscarriage in pregnancies undergoing amniocentesis (AC) following inconclusive results for a chorionic villus sampling (CVS). Methods: This was a multicentric retrospective cohort study of patients in which both CVS at 11–13 weeks’ gestation and AC at 16–22 weeks were performed between January 1st, 2008, and July 31st, 2017. The primary outcome measure was pregnancy loss prior to 24 weeks gestation; the secondary one was intrauterine demise after 24 weeks. Results: A total of 287 patients underwent transabdominal CVS and AC. Nine patients were lost at follow-up; therefore, the analysis was conducted on a population of 278 patients (275 singletons and 3 dichorionic twin pregnancies). AC was performed because of placental mosaicism (93.6%), failure of direct/semidirect preparation of trophoblastic cells (3.2%), or targeted genetic testing after the diagnosis of an anomaly in the second trimester (3.2%). In continuing pregnancies, there were no fetal losses prior to 24 weeks’ gestation. Two intrauterine demises (including 1 fetus with multiple anomalies and growth restriction) in the third trimester were recorded. Conclusion: Patients undergoing midtrimester AC because of an inconclusive result of CVS can be reasonably reassured that in general the risk of miscarriage and fetal loss following the procedure is very small.

Chorionic Villus Sampling (CVS) for Prenatal Diagnosis of Genetic Disorders in Bangladesh

Objective(s): The aim of the study was to identify safety and outcome of trans abdominal Chorionic Villus Sampling (CVS) for prenatal diagnosis of genetic disorders.Materials and methods: This is a retrospective analytical study on women who had undergone trans abdominal CVS. All CVS were done at Fetal medicine centre, Family Foundation, Green Road, Dhaka, from June 2013 to December 2016. A total of 286 couples, who were referred for prenatal diagnosis of various genetic disorders were studied. Trans abdominal CVS was done under local anesthesia and real-time ultrasound guidance. A 18G/88mm Spinal Needle (B Braun, Germany) was used. All CVS were performed with the “2 operators” technique. The needle was introduced trans abdominally into the placenta in its longitudinal direction. Once the needle was adequately placed, the chorionic villi were aspirated with a to and fro jiggling movement of the aspiration needle and a suction force was applied through a syringe. Results were recorded and analyzed for descriptive statistics.Results: A total of 286 CVSs were performed as outdoor basis. The most common indication was detecting Beta-thalassaemia (82.5%). Other indications were for diagnosis of aneuploidy (9.7%), Hemophilia (3.1%), Spinal muscular atrophy (SMA) (2.4%), Duchenne Muscular Dystrophy (DMD) (2%). Most procedures were done between 11 and 13 weeks (range 11- 14 weeks). Most aspirations (95.1%) were easy; however, in 4.8% cases the aspiration was difficult due to a variety of factors. The overall success rate was 100%. Minor complications like placental hematoma and pervaginal (P/V) bleeding occurred in 2% and 1.3% respectively, which were subsided by conservative management. The procedure related miscarriage within three weeks not occurred in any cases.Conclusion: Trans abdominal CVS under real-time sonography is a useful outdoor procedure for prenatal diagnosis in early pregnancy without significant risk to the mother and the fetus.Bangladesh J Obstet Gynaecol, 2016; Vol. 31(2) : 63-69

Amniocentesis and chorionic villus sampling for prenatal diagnosis.

Amniocentesis and chorionic villus sampling for prenatal diagnosis.