Appeal type: Experimental/Investigational
Decision: Upheld

Reviewer #2:

Diagnosis: Carrier of cystic fibrosis

Treatment: CPT codes 88299 [Unlisted cytogenetic study] and 81228 [cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (e.g., bacterial artificial chromosome [BAC] or oligo-based comparative genomic hybridization [CHG] microarray analysis)]

The insurer denied coverage for CPT codes 88299 [Unlisted cytogenetic study] and 81228 [cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (e.g., bacterial artificial chromosome [BAC] or oligo-based comparative genomic hybridization [CHG] microarray analysis)]. 

The denial is upheld.

This case involves female who underwent the requested genetic testing.  The submitted documentation indicated that the patient experienced fertility issues and underwent the process of in vitro fertilization (IVF).  The documentation detailed the patient and her husband were both carriers of cystic fibrosis.  As a result, a fertility specialist recommended that the samples of the embryos be tested to see which embryos may have cystic fibrosis given the offspring would have a 1 in 4 chance of having cystic fibrosis.  The documentation indicated that the patient underwent testing initially where it was noted that none of the embryos were viable.  Additional embryos were tested and only 1 embryo was viable for future pregnancy. The two CPT codes requested for review were: 81228 which was PGT-M, screening for cystic fibrosis, and 88299 which was PGT-A, screening for aneuploidy.

As per the American College of Obstetricians and Gynecologists (ACOG), the clinical utility of preimplantation genetic testing-monogenic and preimplantation genetic testing-structural rearrangements is firmly established; however, the best use of preimplantation genetic testing-aneuploidy remains to be determined. Future research is necessary to establish the overall clinical utility for preimplantation genetic testing-aneuploidy, the subset of patients that may benefit from preimplantation genetic testing-aneuploidy, the clinical significance of mosaicism, and residual risk for aneuploidy in preimplantation genetic testing-aneuploidy screened embryos. 

PGT-M may be considered in this patient since both parents are CF carriers.  However, usually the parents have to undergo genetic counseling first to understand whether the results of this testing would change overall health outcome.  In this case there was no counseling documented, thus it is unclear whether the testing would change health outcome.  

Preimplantation genetic testing encompasses preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). PGS improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and resulting in a live birth. PGD enables the identification of embryos with specific disease-causing mutations and transfer of unaffected embryos. However, ACOG does not support the use of PGT-A at this time.  And this patient did not undergo genetic counseling to understand if PGT-M would change the health outcome.  ACOG is unclear as to the best use of PGT-A at this time.  Thus, the requested service is not likely to be more beneficial than any of the standard treatments/procedures for this patient.

The carrier's denial of coverage for CPT codes 88299 [Unlisted cytogenetic study] and 81228 [cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (e.g., bacterial artificial chromosome [BAC] or oligo-based comparative genomic hybridization [CHG] microarray analysis)]; testing performed should be upheld.