Pregnancy Loss Microarray

Test Information

The pregnancy loss microarray is performed using either Affymetrix CytoScan HD or OncoScan. This analysis can detect abnormalities such as aneuploidy, mosaicism as low as 20%, common microdeletion and microduplication syndromes, interstitial and terminal chromosome deletions and duplications greater than >300 kb, and loss of heterozygosity and suspected uniparental disomy (UPD).

Turnaround Time

26 days

CPT Code(s)

81229

Cost

$1,950

Clinical Information

Pregnancy loss occurs in up to 15% of all recognized pregnancies. In approximately half of these cases, the loss can be attributed to the presence of one or more chromosome abnormalities. The pregnancy loss microarray is performed using either Affymetrix CytoScan HD or OncoScan, and the appropriate platform will be determined by sample type and condition. This analysis can detect the following abnormalities:

Aneuploidy
Mosaicism as low as 20%
Common microdeletion and microduplication syndromes
Interstitial and terminal chromosome deletions and duplications greater than >300 kb
Loss of heterozygosity and suspected uniparental disomy (UPD)

If a maternal sample is also sent to the laboratory, maternal cell contamination can be detected, and the parent of origin for uniparental isodisomy can be determined.

Indications

Pregnancy loss microarray can be performed on fetal samples following miscarriage, fetal demise, or stillbirth.

Specimen Requirements

Fresh tissue (fetal tissue, amnion, placenta)
Cultured cells
Formalin fixed paraffin embedded (FFPE)

Products of Conception should be placed in a sterile container for transport. The specimen must be kept moist, so add tissue culture media or sterile saline if needed.

Fresh tissue: Using sterile technique, obtain a 5 mm biopsy of unmacerated fetal tissue and place in tube containing transport media. If tissue culture media is not available, sterile solutions such as balanced salt solution may be used. The preferred placental tissues are fetal membranes or chorionic villi. If fetal samples are obtained at autopsy, lung, gonad or thymus are preferred for chromosome study.

Cultured tissue: 2-T25 confluent flasks can be sent for analysis.

POC and Solid Tissue Collection Instructions

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. Do not freeze.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Cytogenetic Testing, Microarray
Lucy's Story

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis...

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