Diagnosis of congenital copy number changes in products of conception, including aneuploidy (ie, trisomy or monosomy) and structural abnormalities
Diagnosing chromosomal causes for fetal death
Determining recurrence risk of future pregnancy losses
Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected previously by other methods such as conventional chromosome and FISH studies
Determining if apparently balanced abnormalities identified by previous conventional chromosome studies have cryptic imbalances, since a proportion of such rearrangements that appear balanced at the resolution of a chromosome study are actually unbalanced when analyzed by higher-resolution chromosomal microarray
Hematoxylin and eosin stain review of the paraffin-embedded sample is performed to identify the area of fetal tissue prior to DNA extraction and microarray analysis. If additional FISH testing is requested, it will be performed at an additional charge.
A maternal blood sample is requested when ordering this test, see PPAP / Parental Sample Prep for Prenatal Microarray Testing. The PPAP test must be ordered under a different order number than the prenatal specimen
Maternal cell contamination (MCC) testing will be performed at no additional charge on the maternal blood and fetal tissue to rule out the presence of maternal cells in the product of conception sample. Testing will not be rejected if maternal blood is not received; however, the possibility of maternal cell contamination cannot be excluded.
A paternal blood sample is desired but not required, see PPAP / Parental Sample Prep for Prenatal Microarray Testing.
If a fresh specimen is submitted, the test will be cancelled and CMAPC / Chromosomal Microarray, Autopsy, Products of Conception, or Stillborn will be added and performed as the appropriate test.
See Frequently Asked Questions: Cytogenetic Testing of Products of Conception by Chromosomal Microarray Analysis in Special Instructions.
