InSight: Prenatal Amnio Aneuploid (FISH) Testing for Chromosomes 13, 18, 21, and XY

CPT: 88271(x5); 88274(x2)
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Test Details

Synonyms

  • Direct Amnio FISH
  • Direct Prenatal FISH
  • InSight FISH
  • Prenatal Aneuploid
  • Prenatal FISH
  • Prenatal FISH for 13, 18, 21, and XY

Use

Rapid direct identification of common prenatal aneuploidy (specific for 13, 18, 21, and XY). If specimen volume is too small, then direct FISH may not be performed and results may be obtained if cultured chromosome studies are ordered.

Limitations

Detects the most common aneuploidies, 13, 18, 21, and XY. Abnormal results should have banded chromosome confirmation.

This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).

Methodology

Fluorescence in situ hybridization (FISH)

Specimen Requirements

Specimen

Amniotic fluid

Volume

3 to 5 mL

Minimum Volume

3 mL (Note: This volume does not allow for repeat testing.)

Container

Sterile plastic conical tube

Patient Preparation

Sampling only performed by qualified physician.

Storage Instructions

Room temperature.

Causes for Rejection

Frozen amniotic fluid; wrong specimen; low volume; specimen in fixative; blood specimen; hypocellular

Clinical Information

Special Instructions

Pertinent medical findings should accompany request for FISH. It is recommended that InSight FISH testing be performed concurrently with prenatal chromosome analysis. Abnormal results should have banded chromosome confirmation.

References

Eiben B, Trawicki W, Hammans W, et al. Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization. Evaluation of >3,000 cases. Fetal Diagn Ther. 1999 Jul-Aug;14(4):193-197.10420039
Schwartz S. Efficacy and applicability of interphase fluorescence in situ hybridization for prenatal diagnosis. Am J Hum Genet. 1993 May;52(5):851-853.8488835
Tepperberg J, Pettenati MJ, Rao PN, et al. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multicenter retrospective study and review of the literature. Prenat Diagn. 2001 Apr;21(4):293-301.11288120
Ward BE, Gersen SL, Carelli MP, et al. Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: Clinical experience with 4,500 specimens. Am J Hum Genet. 1993 May;52(5):854-865.8488836

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