Chorionic villus sampling

Embryology - 2 Dec 2023        Expand to Translate
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Introduction

Chorionic Villus Sampling (CVS)test is done in the 10th to 12th week after the first day of the mother's last menstrual period (GA week 10 to 12).

The chorionic villus sampling test is done by looking at cells taken from the chorionic membrane or placenta. No anaesthetic is required, and a test result is usually available in two to three weeks.

When the test is carried out by an obstetrician experienced in the technique, the risk of miscarriage related to the test is about 2 %. (Modified from: Checking your baby's health before birth. State Health Publication Number (PA) 94-090). A recent study of the published literature showed a procedure-related risk of miscarriage following CVS was 0.35% (95% CI: -0.31 to 1.00). A more detailed Cochrane review of amniocentesis and chorionic villus sampling has also bee carried out.

Potential disadvantages include maternal cell contamination, placental mosaicism and failure to obtain an adequate specimen. This may result in the need for a repeat procedure or amniocentesis.

Some Recent Findings

Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of the literature and updated meta-analysis "A search of MEDLINE, EMBASE, and The Cochrane Library was carried out to identify studies reporting complications following CVS or amniocentesis. Inclusion criteria for the systematic review were studies reporting results from large controlled studies and those reporting data for pregnancy loss prior to 24 weeks' gestation. Study authors were contacted when required to identify additional necessary data. Data for cases that had invasive procedure and control groups were inputted in contingency tables and risk of miscarriage was estimated for each study. Summary statistics based on a fixed- and random-effects model 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. Subgroup analysis according to the similarity risk levels in the invasive testing and control groups was performed. Heterogeneity was assessed using Cochrane's Q and I2 statistic. Egger's bias was estimated to assess reporting bias in published studies. Summary statistics for procedure-related risk of miscarriage were graphically represented in forest plots. CONCLUSIONS: The procedure-related risks of miscarriage following amniocentesis and CVS are lower than currently quoted to women. The risk appears to be negligible when these interventions are compared to control groups of the same risk profile." Fetal loss following invasive prenatal testing: a comparison of transabdominal chorionic villus sampling, transcervical chorionic villus sampling and amniocentesis "We retrospectively evaluated procedures of invasive prenatal testing performed during a 14-year period (2001-2014) including 936 amniocentesis procedures and 1051 chorionic villus samplings, of which 405 cases were executed transabdominally and 646 transcervically. Only singleton pregnancies before 24 weeks and 0 days of gestation where the pregnancy outcome was known were included. Fetal loss was defined as an abortion occurring either before 24 weeks and 0 days of gestation or less that 2 weeks after the procedure. The total fetal loss rates were determined to be 1.73% for transabdominal chorionic villus sampling, 2.01% for transcervical chorionic villus sampling and 1.18% for amniocentesis. No statistically noticeable differences between the total fetal loss rates of all three procedures were found (P=0.399). Our study has shown that chorionic villus sampling (either transabdominal or transcervical) and amniocentesis are equal methods for invasive prenatal testing with respect to their abortion risk.

More recent papers

This table allows an automated computer search of the external PubMed database using the listed "Search term" text link. This search now requires a manual link as the original PubMed extension has been disabled. The displayed list of references do not reflect any editorial selection of material based on content or relevance. References also appear on this list based upon the date of the actual page viewing. References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability. More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Chorionic villus sampling | CVS

Older papers

These papers originally appeared in the Some Recent Findings table, but as that list grew in length have now been shuffled down to this collapsible table. See also the Discussion Page for other references listed by year and References on this current page. Developmental origin of chorionic villus cultures from spontaneous abortion and chorionic villus sampling "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. 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." Clinical Trial of Multiplanar Real-time 4- Versus 2-Dimensional Sonographic Guidance for Transcervical Chorionic Villus Sampling "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."

Movie

A typical example of ultrasound guided chorionic villus sampling (CVS) at 12 weeks of pregnancy (Royal Berkshire, Published on Oct 21, 2013).

<html5media width="480" height="360">https://www.youtube.com/embed/FVaPqKrZm4E</html5media>

Links: Movie - Amniocentesis | YouTube CVS video

References

Reviews

Filocamo M & Morrone A. (2011). Lysosomal storage disorders: molecular basis and laboratory testing. Hum. Genomics , 5, 156-69. PMID: 21504867

Minna T, Mika G, Tiina L, Marjo M, Sture A, Olavi Y, Annukka R, Vilho H, Jorma P & Mika N. (2011). Risk for placental abruption following amniocentesis and chorionic villus sampling. Prenat. Diagn. , 31, 410-2. PMID: 21413037 DOI.

Farina A. (2011). Nonabortal pregnancy complications of chorionic villous sampling. Curr. Opin. Obstet. Gynecol. , 23, 129-34. PMID: 21297473 DOI.

Search PubMed

Search PubMed: Chorionic villus sampling

Search Entrez: Search All Databases - CVS

Prenatal Diagnosis Terms

• ART - Assisted Reproductive Technology a general term to describe all the clinical techniques used to aid fertility.

• blastomere biopsy - An ART preimplantation genetic diagnosis technique carried out at cleavage stage (day 3), excluding poor quality embryos, detects chromosomal abnormalities of both maternal and paternal origin. May not detect cellular mosaicism in the embryo.

• blastocyst biopsy - An ART preimplantation genetic diagnosis technique carried out at blastocyst stage (day 4-5), removes several trophoblast (trophoderm) cells, detects chromosomal abnormalities of both maternal and paternal origin and may detect cellular mosaicism.

• cell-free fetal deoxyribonucleic acid - (cfDNA) refers to fetal DNA circulating and isolated from the plasma portion of maternal blood. Can be performed from GA 10 weeks as a first-tier test or as a second-tier test, with women with increased probability on combined first trimester screening offered cfDNA or diagnostic testing.

• false negative rate - The proportion of pregnancies that will test negative given that the congenital anomaly is present.

• false positive rate - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.

• free β human chorionic gonadotrophin - beta-hCG subunit of hCG used as a diagnostic marker for: early detection of pregnancy, Trisomy 21, spontaneous abortion, ectopic pregnancy, hydatidiform mole or choriocarcinoma.

• multiples of the median - (MoM) A multiple of the median is a measure of how far an individual test result deviates from the median and is used to report the results of medical screening tests, particularly where the results of the individual tests are highly variable.

• negative predictive value - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.

• Non-Invasive Prenatal Testing - (NIPT) could refer to ultrasound or other imaging techniques, but more frequently used to describe analysis of cell-free fetal DNA circulating in maternal blood.

• polar body biopsy - (PB biopsy) An ART preimplantation genetic diagnosis technique that removes either the first or second polar body from the zygote. As these are generated by oocyte meiosis they detects chromosomal abnormalities only on the female genetics.

• positive predictive value - The probability that a congenital anomaly is present given that the prenatal screening test is positive.

• pre-implantation genetic diagnosis - (PGD, pre-implantation genetic screening) a diagnostic procedure for embryos produced through Assisted Reproductive Technology (ART, in vitro fertilisation, IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.

• prenatal screening sensitivity - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.

• prenatal screening specificity - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.

• quadruple test (maternal serum testing of a-fetoprotein Template:AFP, free B-hCG or total hCG, unconjugated estriol, and inhibin A) is a fetal chromosomal anomaly test usually carried out later in pregnancy (GA 14 to 20 weeks).

• single nucleotide polymorphisms - (SNPs) the variation in a single DNA nucleotide that occurs at a specific position in the genome.

• triple test - (maternal serum testing of a-fetoprotein Template:AFP, free B-hCG or total hCG, and unconjugated estriol) is a fetal chromosomal anomaly test usually carried out later in pregnancy (GA 14 to 20 weeks).

External Links

External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.

• Medline Plus - Chorionic villus sampling
• WHO - Oladapo OT. Amniocentesis and chorionic villus sampling for prenatal diagnosis: RHL commentary (last revised: 1 April 2009). The WHO Reproductive Health Library; Geneva: World Health Organization.

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Cite this page: Hill, M.A. (2023, December 2) Embryology Chorionic villus sampling. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Chorionic_villus_sampling

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© Dr Mark Hill 2023, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G