Talk:Chorionic villus sampling
Risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review of the literature
Minerva Ginecol. 2018 Apr;70(2):215-219. doi: 10.23736/S0026-4784.17.04178-8. Epub 2017 Nov 21.
Beta J1, Lesmes-Heredia C1, Bedetti C1, Akolekar R2,3.
INTRODUCTION: The aim of this paper was to estimate the risk of miscarriage after amniocentesis or chorionic villus sampling (CVS) based on a systematic review of the literature. EVIDENCE ACQUISITION: A search of Medline, Embase, and The Cochrane Library (2000-2017) was carried out to identify studies reporting complications following CVS or amniocentesis. The inclusion criteria for the systematic review were studies reporting results from large controlled studies (N.≥1000 invasive procedures) and those reporting data for pregnancy loss prior to 24 weeks' gestation. Data for cases that had invasive procedure and controls were inputted in contingency tables and risk of miscarriage was estimated for each study. Summary statistics were calculated after taking into account the weighting for each study included in the systematic review. Procedure-related risk of miscarriage was estimated as a weighted risk difference from the summary statistics for cases and controls. EVIDENCE SNTHESIS: The electronic search from the databases yielded 2465 potential citations of which 2431 were excluded, leaving 34 studies for full-text review. The final review included 10 studies for amniocentesis and 6 studies for CVS, which were used to estimate risk of miscarriage in pregnancies that had an invasive procedure and the control pregnancies that did not. The procedure-related risk of miscarriage following amniocentesis was 0.35% (95% confidence interval [CI]: 0.07 to 0.63) and that following CVS was 0.35% (95% CI: -0.31 to 1.00). CONCLUSIONS: The procedure-related risks of miscarriage following amniocentesis and CVS are lower than currently quoted to women. PMID: 29161799 DOI: 10.23736/S0026-4784.17.04178-8
The transvaginal probe as a uterine manipulator: a new technique to simplify transabdominal chorionic villus sampling in cases with difficult access to the trophoblast
Prenat Diagn. 2011 Jun 27. doi: 10.1002/pd.2801. [Epub ahead of print]
Bertucci E, Pati M, Cani C, Volpe A, Mazza V.
Prenatal Medicine Unit, Department of Obstetrics and Gynaecology, University of Modena, Modena, Italy. Abstract OBJECTIVES: To evaluate the efficacy of using the transvaginal probe to manipulate the uterus and change the position of the trophoblast, and to simplify access to the chorionic villus under difficult conditions.
METHODS: One thousand five hundred and thirty-nine procedures were performed in our centre in 1524 pregnant women from September 2006 to September 2009. In 90 of these, a difficult access to the trophoblast was observed and uterine manipulation under continuous ultrasound guidance with a double needle technique, was applied to obtain the sample. Of these, 86 samples were taken from singleton pregnancies and 4 from two bichorionic twin pregnancies
RESULTS: One thousand five hundred and thirty-nine transabdominal chorionic villus sampling (TA-CVS) procedures were conducted on 1524 pregnant women. As many as 1449 were performed without manipulation with the transvaginal probe and in 90 cases the manipulation was carried out. In 89 cases, access to the trophoblast was difficult and the uterus was manipulated, which enabled an adequate TA-CVS to be performed with a single aspiration. In one case, TA-CVS was not performed due to significant pelvic pain in a patient with a fixed, retroflexed uterus and a previous history of endometriosis.
CONCLUSIONS: Uterine manipulation with the transvaginal probe may be a useful solution in cases where TA-CVS is limited by difficult access to the trophoblast. Copyright © 2011 John Wiley & Sons, Ltd.
Developmental origin of chorionic villus cultures from spontaneous abortion and chorionic villus sampling
J Obstet Gynaecol Can. 2011 May;33(5):449-52.
Yong PJ, McFadden DE, Robinson WP. Source Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, BC.
OBJECTIVE: Chorionic villus cultures from spontaneous abortions and chorionic villus sampling (CVS) are routinely used for clinical cytogenetic analysis. Although these cultures are assumed to represent the chorionic villus mesenchymal core, and therefore the inner cell mass (ICM) of the blastocyst, immunochemical studies using a true trophoblast-specific marker to definitively rule out trophoblast contamination have not been done. Therefore, we used cytokeratin-7 (CK7), a trophoblast-specific marker, to assess the developmental origin of these chorionic villus cultures.
METHODS: We assessed chorionic villus cultures from CVS and spontaneous abortions for CK7 immunostaining (n = 20).
RESULTS: Cultures from both CVS and spontaneous abortions showed little or no CK7 staining (≤ 1%).
CONCLUSION: Chorionic villus cultures from CVS and spontaneous abortions exhibit little or no trophoblast contamination. They are therefore representative of the villus mesenchymal core and ultimately originate from the ICM of the blastocyst.
Lysosomal storage disorders: molecular basis and laboratory testing
Hum Genomics. 2011 Mar;5(3):156-69.
Filocamo M, Morrone A. Source S.S.D. Lab. Diagnosi Pre-Postnatale Malattie Metaboliche, Dipartimento di Neuroscienze, IRCCS G. Gaslini, Largo G. Gaslini 5, Genova, Italy. email@example.com
Lysosomal storage disorders (LSDs) are a large group of more than 50 different inherited metabolic diseases which, in the great majority of cases, result from the defective function of specific lysosomal enzymes and, in few cases, of non-enzymatic lysosomal proteins or non-lysosomal proteins involved in lysosomal biogenesis. The progressive lysosomal accumulation of undegraded metabolites results in generalised cell and tissue dysfunction, and, therefore, multi-systemic pathology. Storage may begin during early embryonic development, and the clinical presentation for LSDs can vary from an early and severe phenotype to late-onset mild disease. The diagnosis of most LSDs--after accurate clinical/paraclinical evaluation, including the analysis of some urinary metabolites--is based mainly on the detection of a specific enzymatic deficiency. In these cases, molecular genetic testing (MGT) can refine the enzymatic diagnosis. Once the genotype of an individual LSD patient has been ascertained, genetic counselling should include prediction of the possible phenotype and the identification of carriers in the family at risk. MGT is essential for the identification of genetic disorders resulting from non-enzymatic lysosomal protein defects and is complementary to biochemical genetic testing (BGT) in complex situations, such as in cases of enzymatic pseudodeficiencies. Prenatal diagnosis is performed on the most appropriate samples, which include fresh or cultured chorionic villus sampling or cultured amniotic fluid. The choice of the test--enzymatic and/or molecular--is based on the characteristics of the defect to be investigated. For prenatal MGT, the genotype of the family index case must be known. The availability of both tests, enzymatic and molecular, enormously increases the reliability of the entire prenatal diagnostic procedure. To conclude, BGT and MGT are mostly complementary for post- and prenatal diagnosis of LSDs. Whenever genotype/phenotype correlations are available, they can be helpful in prognosis and in making decisions about therapy.
J Ultrasound Med. 2011 Mar;30(3):309-12.
Clinical Trial of Multiplanar Real-time 4- Versus 2-Dimensional Sonographic Guidance for Transcervical Chorionic Villus Sampling
Adeniji B, Williams J 3rd, Solt I, Morales C, Alanakian A, Rotmensch S. Source Maternal-Fetal Center, Children's Hospital of Central California, 9300 Valley Children's Pl, Madera, CA 93636-8762 USA. firstname.lastname@example.org. Abstract Objectives- Real-time 4-dimensional (4D) sonography can visualize the location of a chorionic villus sampling (CVS) catheter simultaneously in 3 dimensions. We determined the utility of 4D versus 2-dimensional (2D) sonographic guidance for transcervical CVS. Methods- Chorionic villus sampling was performed on 40 patients at 10 to 13 weeks' gestation (20 in each study group). Primary outcomes were as follows: (1) time in seconds needed to complete the procedure; (2) procedure failure, defined as the inability to obtain an adequate sample by a single catheter insertion or a necessity to switch to the alternative imaging modality; and (3) acquisition of a sample of chorionic villi sufficient for cytogenetic analysis. Wilcoxon rank sum and Fisher exact tests were used for categorical and continuous variables, respectively. Figure 1. A, Two-dimensional guidance of the transcervical chorionic villus sampling procedure. Arrows indicate the chorionic villus sampling catheter. B, Multiplanar 3-dimensional guidance of the procedure. Results- The procedure time was significantly longer in the 4D group than the 2D group (161.4 versus 80.4 seconds, respectively; P = .001). The success rate at first introduction of the catheter was higher for 2D guidance (90%) than 4D guidance (70%) but was not statistically significant with the study group sizes. Adequate sample sizes were obtained in all patients. The main limiting factor in 4D guidance was a low frame rate. Conclusions- Our findings show the feasibility of 4D guidance for transcervical CVS, although at the expense of a prolonged procedure time when compared to 2D sonographic guidance. The value of 4D guidance for less experienced operators remains to be determined.
- Guide to Clinical Preventive Services: Report of the U.S. Preventive Services Task Force. 2nd edition.
US Preventive Services Task Force. Washington (DC): US Department of Health and Human Services; 1996. http://www.ncbi.nlm.nih.gov/books/NBK15485/#A14305