Chromosome Analysis — Products of Conception

CPT Code(s): 88233, 88261, 88180

Service Code (IU Health): 53100384, 53100574, 53100715

Ordering Recommendation: Chromosome abnormalities are estimated to be the cause of 15% to 60% of spontaneous abortions or may result in malformed fetuses or neonatal deaths. Analysis of chromosomes from fetal tissue/Products of Conception (POC) can identify the cause of the spontaneous abortion, malformation or neonatal death. It can also help in assessing recurrence risk for pregnancy loss, risk for having subsequent children with chromosome abnormalities and may be important in managing future pregnancies. Indications for this test include fetal demise, malformed fetus, patients with a history of miscarriage or abnormal ultrasound. This test is also useful for confirmation of known genetic abnormality.

Synonyms: Karyotype, G-bands, Chromosome Analysis, Products of Conception, Stillbirth, Karyotype, Miscarriage, Pregnancy loss, Autopsy (only if Chromosome Analysis is indicated), Intrauterine fetal demise, IUFD, SAB, Spontaneous abortion

Methodology: Tissue culture, microscopic analysis of G-banded chromosomes.

Performed: Monday through Saturday

Reported: 12-14 days

Collect: Preferred: Villi from placenta collected aseptically and placed in tissue transport media (provided upon request). Cartilage, membrane, tendon also accepted, with cord section included. Maternal cell contamination in fetal tissue/POC specimens can interfere with the interpretation of chromosome analyses.

Specimen Volume: 3-10 mm³

Storage/Transport: Refrigerate (in transport media which can be provided or sterile screw-top container with sterile media).

Unacceptable Conditions: Frozen. Do not place tissue in fixative.

Remarks: Do not send entire fetus. Tissue from fetal organs (lung, liver, etc.) and skin typically is not viable. If specimen collection time is greater than 72 hours, testing may be compromised.

Stability: Refrigerated: 48 hours; Frozen: Unacceptable

Characteristics:

Negative: A 46,XX or 46,XY karyotype indicating no apparent chromosomal abnormality is considered negative.

Positive: Identification of any numerical or structural chromosomal abnormality. A report detailing interpretation of results will be provided.

Limitations: This does not eliminate the possibility of low frequency mosaicism or small structural abnormalities. Living cells are required for chromosome analysis. As such, sample quality can affect the turnaround time. There is a possibility of contamination by maternal cells in this procedure. A normal karyotype, i.e. 46,XX or 46,XY with no apparent chromosome abnormality, does not eliminate the possibility that the birth defect may be caused by submicroscopic cytogenetic lesions, molecular mutations, and/or environmental factors such as exposure to teratogens.