Prenatal diagnosis of copy number changes (gains or losses) across the entire genome
Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected 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
Assessing regions of homozygosity related to uniparental disomy or identity by descent
Maternal cell contamination (MCC) testing will be performed at no additional charge if a maternal blood sample is received to rule out the presence of maternal cells in the prenatal sample, see Additional Testing Requirements.
If an insufficient sample is received or MCC is identified in the prenatal sample, microarray testing will be performed on cultured material.
The following algorithms are available in Special Instructions:
-Prenatal Aneuploidy Screening and Diagnostic Testing Options
-High-Risk Pregnancy Based on Abnormal Fetal Malformations: Laboratory Testing Algorithm
