Prenatal Microarray

Test Name:   Prenatal Microarray

Indications for Testing:

  • Abnormal ultrasound findings
  • Abnormal screening tests
  • Family history of a genetic or chromosomal anomaly that is detectable my microarray

  • History of pregnancy loss

In some cases, chromosome analysis and fluorescence in situ hybridization (FISH) may also be indicated.

Test Information:

Advantages:

  • Evaluates hundreds of genetic conditions across the genome with one test
  • Detects aneuploidy (including trisomy and sex chromosome abnormalities) and triploidy
  • Identifies deletions and duplications in regions known to be associated with well-characterized microdeletion and microduplication syndromes
  • Provides enriched coverage of subtelomeric regions, often undetectable by traditional chromosome analysis
  • More comprehensive than individual FISH tests
  • Often allows for results on suboptimal specimens for which chromosome analysis is not feasible

Limitations:

  • Cannot identify all genetic conditions or the cause of all fetal anomalies in a pregnancy
  • Does not detect changes in the DNA sequence of genes
  • Cannot detect balanced chromosome rearrangements (a complementary test such aschromosome analysisshould be performed to detect balanced chromosome rearrangements)
  • Unable to reliably detect all cases of mosaicism

Results:

  • A normal result indicates no clinically-significant chromosome anomalies were identified.
  • An abnormal or pathogenic result indicates that a clinically-significant chromosome anomaly was identified in the fetus.
  • Our Prenatal Microarray is designed to identify clinically-relevant anomalies. However, in rare cases, a reportable anomaly may be identified for which a definitive classification (i.e., normal or abnormal) is not possible. In those cases, these anomalies will be reported as variants of uncertain clinical significance.
  • Parental testing may be recommended in order to clarify whether the result is de novo or familial for the purpose of recurrence risk calculation.

Testing Notes:

  • Prenatal Microarray does NOT analyze the mother’s chromosomes. This testing is available at our laboratory but must be ordered as a separate test.
  • Prenatal Microarray can be completed concurrently with Prenatal Chromosome Analysis or as a reflex if chromosome analysis does not identify an abnormality.

Required forms: Prenatal Test Request Form

Other forms: Request for Pre-Authorization for Genetic Testing (Prenatal Diagnoses)


Specimen Collection & Shipping

Specimen Requirements: 

  • Amniotic Fluid: 10 - 15 ml amniotic fluid in 2 sterile tubes
  • Chorionic Villi Sampling (CVS): 10-20 mg in (sterile) villi in tissue culture media

CPT Codes:

  • Amniotic Fluid: 81229, 88235
  • CVS: 81229, 88235

Pricing: Contact the laboratory billing staff for current costs 


Turn-Around-Time: Results are typically available in 1-2 weeks


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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