Chromosomal Microarray Testing
In patients who are undergoing invasive diagnostic prenatal (fetal) testing, chromosome microarray testing may be considered medically necessary as an alternative to karyotyping (see Policy Guidelines).
Single-Gene Disorders
Invasive diagnostic prenatal (fetal) testing for molecular analysis for single-gene disorders may be considered medically necessary when a pregnancy has been identified as being at high risk:
For autosomal dominant conditions, at least one of the parents has a known pathogenic variant.
For autosomal recessive conditions:
Both parents are suspected to be carriers or are known to be carriers, OR
One parent is clinically affected and the other parent is suspected to be or is a known carrier.
For X-linked conditions: A parent is suspected to be or is a known carrier.
AND, ALL of the following are met:
The natural history of the disease is well-understood, and there is a reasonable likelihood that the disease is one with high morbidity in the homozygous or compound heterozygous state, AND
Any variants have high penetrance, AND
The genetic test has adequate sensitivity and specificity to guide clinical decision making and residual risk is understood, AND
An association of the marker with the disorder has been established.
If the above criteria for molecular analysis of single-gene disorders are not met, invasive diagnostic prenatal (fetal) testing is considered investigational.
Next-Generation Sequencing
The use of next-generation sequencing in the setting of invasive prenatal testing is considered investigational.
