Chorionic villus sampling

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Introduction

Cvs.jpg

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).[1] A more detailed Cochrane review of amniocentesis and chorionic villus sampling has also bee carried out.Cite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title


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.


Diagnosis Links: Prenatal Diagnosis | Pregnancy Test | Amniocentesis | Chorionic villus sampling | Ultrasound | Alpha-Fetoprotein | Pregnancy-associated plasma protein-A | Fetal Blood Sampling | Magnetic Resonance Imaging | Computed Tomography | Non-Invasive Prenatal Testing | Fetal Cells in Maternal Blood | Preimplantation Genetic Screening | Comparative Genomic Hybridization | Genome Sequencing | Neonatal Diagnosis | Category:Prenatal Diagnosis | Fetal Surgery | Classification of Diseases | Category:Neonatal Diagnosis

Some Recent Findings

  • Developmental origin of chorionic villus cultures from spontaneous abortion and chorionic villus sampling[2] "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[3] "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."
More recent papers  
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Search term: Chorionic villus sampling

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Movie

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


Links: Movie - Amniocentesis | YouTube CVS video

References

  1. Beta J, Lesmes-Heredia C, Bedetti C & Akolekar R. (2018). Risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review of the literature. Minerva Ginecol , 70, 215-219. PMID: 29161799 DOI.
  2. Yong PJ, McFadden DE & Robinson WP. (2011). Developmental origin of chorionic villus cultures from spontaneous abortion and chorionic villus sampling. J Obstet Gynaecol Can , 33, 449-452. PMID: 21639964 DOI.
  3. Adeniji B, Williams J, Solt I, Morales C, Alanakian A & Rotmensch S. (2011). Clinical trial of multiplanar real-time 4- versus 2-dimensional sonographic guidance for transcervical chorionic villus sampling. J Ultrasound Med , 30, 309-12. PMID: 21357552

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.

Articles

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Prenatal Diagnosis Terms

  • 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 - (cffDNA) refers to fetal DNA circulating and isolated from the plasma portion of maternal blood.
  • 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.
  • single nucleotide polymorphisms - (SNPs) the variation in a single DNA nucleotide that occurs at a specific position in the genome.
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Cite this page: Hill, M.A. (2019, March 26) 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 2019, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G