Chromosome Analysis - Prenatal and Pregnancy Loss

Test Name:   Chromosome Analysis - Prenatal and Pregnancy Loss
Also known as:   Cytogenetics, Karyotyping by G-banding

Indications for Prenatal Chromosome Analysis:

  • Advanced maternal age (> 35 years of age)
  • Previous pregnancy with a chromosome abnormality
  • Parent carrying a known translocation
  • Abnormal ultrasound findings
  • Abnormal first or second trimester screening test

Indications for Pregnancy Loss Chromosome Analysis:

  • History of multiple spontaneous abortions without evidence of a clear reason for the loss
  • Previous pregnancy with or family history of a chromosome abnormality
  • Parent carrying a known translocation

Test Information: Standard methodology is used for G-banded chromosome analysis. It is our protocol to perform Amniotic Fluid AFP (AF-AFP) on amniotic samples concurrently unless the gestational age is greater than 22 weeks 6 days in which case AChE is completed instead of AF-AFP. In most situations if AF-AFP is positive, AChE will be sent out and will be an added cost.

Advantages:

  • Detects aneuploidy, triploidy, structural rearrangements (balanced and unbalanced), and large-scale deletions and duplications
  • Whole genome analysis
  • Establishes chromosomal orientation of genetic material

Limitations:

  • Requires mitotic (dividing) cells, which can be problematic with pregnancy loss specimens
  • Limited resolution as compared to newer technologies such as microarray
  • Unable to provide gene-specific information

Required forms: This test can be ordered using ONE of the following two forms:

Other forms:


Specimen Collection & Shipping

Specimen Requirements: 

  • Amniotic Fluid: 15 - 20 ml amniotic fluid in 2 sterile tubes
  • Chorionic Villi Sampling (CVS): 10-20 mg in (sterile) villi in tissue culture media
  • Product of Conception (POC): 0.5-1.0 cm3 (sterile) villi and/or fetal tissue in tissue culture media
    • Amniotic fluid if IUFD or therapeutic abortion, if possible

Special Instructions:

Preferred fetal tissue sample sites include buttocks or thigh. If fetal tissue is not available placental villi can be utilized. Separate villi from maternal blood and deciduas to reduce the chance for maternal cell contamination.


CPT Codes:

  • Amniotic Fluid: 88235(x2), 88269, 88280(x2), 88285, 88291
  • Additional (Send Out) Testing on Amniotic Fluid:
    • AChE: 82013, 82106, 82143, 82664
    • AF-AFP: 82106 for AFAFP
    • Cytomegalovirus (CMV) PCR: 87496
    • Parvovirus PCR: 87798
    • Toxoplasma PCR: 87798
  • Chorionic Villi Sampling (CVS): 88235(x2), 88261, 88280(x2), 88285(x3), 88291
  • Product of Conception (POC): 88233(x2), 88261, 88280(x2), 88285(x3), 88291

Pricing: Contact the laboratory billing staff for current costs 


Turn-Around-Time: Results are typically available in 7-10 days on amniotic fluid and CVS; 10-14 days on POC.


Additional links:
Amniocentesis brochure
Amniocentesis brochure - Spanish
CVS brochure


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contact us
Phone:  402-559-5070 
1-800-656-3937 x95070
Fax:  402-559-7248
humangenetics@unmc.edu

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