Chromosome Analysis, Chorionic Villus Sampling
Use
This test is used for the prenatal diagnosis of chromosome abnormalities, including aneuploidy and balanced rearrangements. The medical indications for performing chromosome studies on chorionic villus sampling (CVS) include advanced maternal age, abnormal prenatal screen, and a family history of chromosome abnormalities. The test is significant as it is considered nearly 100% accurate for detecting non-mosaic whole chromosome abnormalities and detectable sub-chromosomal abnormalities greater than 5-20Mb.
Special Instructions
Not provided.
Limitations
This test is not appropriate as a first-tier test for detecting gains or losses of chromosomal material in pregnancies with one or more major structural abnormalities. Only large abnormalities visible by manual inspection are usually detectable; it may miss subtle structural chromosome abnormalities. Confined placental mosaicism may not reflect the fetal karyotype, and artifacts of cell culture may rarely be misinterpreted as mosaicism.
New York Approved
Methodology
Chromosomal / Cytogenetics (Karyotype)
Biomarkers
Unknown CNV
Copy Number Region
LOINC Codes
- 62350-4 - Chrom analy pnl CVS G-banded
- 50397-9 - Mol dx interp Bld/T Ql
- 69965-2 - Clinical cytogeneticist review
- 82939-0 - Genetic variant details Bld/T
- 42349-1
- 31208-2 - Specimen source
- 85069-3 - Lab test method
- 62359-5 - Chrom banding method
- 48767-8 - Annotation comment Imp
- 18771-6 - Provider signing name
Result Turnaround Time
9-14 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (Unknown)
Volume
20-30 mg
Minimum Volume
12 mg
Container
15-mL tube containing 15 mL of transport media
Collection Instructions
Collect chorionic villus specimen (CVS) by the transabdominal or transcervical method. Transfer the CVS to a Petri dish containing transport medium. Assess quality and quantity of the villi and remove any blood clots and maternal decidua using a stereomicroscope and sterile forceps.