Appeal type: Medical necessity
Decision: Overturned

Diagnosis: Increased Risk for Trisomy 21
Treatment: Chromosomal Microarray (CMA) Analysis Genetic Testing
The insurer denied the Chromosomal Microarray (CMA) Analysis Genetic Testing.

Yes, the Chromosomal Microarray (CMA) Analysis Genetic testing provided was medically necessary.

This patient had an abnormal first trimester screen suggestive of Trisomy 21. Further testing was medically necessary. Options includes: Prenatal cell-free DNA (deoxyribonucleic acid) screening, chorionic villus sampling (CVS) or amniocentesis. The patient elected to proceed with CVS (chorionic villus sampling). and the procedure was performed, and the recovered tissue was sent for Chromosomal Microarray (CMA) Analysis Genetic testing.

In prenatal diagnosis, CMA (Chromosomal Microarray Analysis) has begun to emerge as a favorable alternative to karyotype analysis. Wapner et al reported that following a normal karyotype, CMA (Chromosomal Microarray Analysis) identified an additional 6.0% of pregnancies with a clinically significant chromosomal abnormalities when there was at least one major structural ultrasound abnormality, and in an additional 1.7% of pregnancies with standard indications for testing, such as an increased risk due to an abnormal maternal serum screening or advanced maternal age.

 Following the publication of this data, the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) published joint recommendations regarding the use of microarray analysis in prenatal diagnosis. The societies recommended CMA (Chromosomal Microarray Analysis) in lieu of karyotyping for patients who wished to proceed with prenatal diagnosis by chorionic villus sampling (CVS) or amniocentesis in the setting of one or more structural fetal anomalies identified by ultrasound. For patients who wished to pursue prenatal diagnosis in the setting of a normal fetal ultrasound, the societies recommend offering either CMA (Chromosomal Microarray Analysis) or karyotyping. 

In the years following these recommendations, microarray technology has transitioned to more sensitive SNP (Single Nucleotide Polymorphism) -based methods allowing for the detection of triploidy, uniparental isodisomy, and regions of homozygosity, in addition to copy number variations.

Therefore, based on ACOG (American College of Obstetricians and Gynecologists) and SMFM (Society for Maternal-Fetal Medicine) recommendations, since this patient had an abnormal serum screening and advanced maternal age, the testing was medically necessary and standard of care.

Note that according to submitted Policy:
Chromosomal microarray analysis (CMA) for prenatal testing, when performed by a qualified laboratory and offered in a setting with adequately trained health care providers to provide appropriate pre-and post-test genetic counseling, is considered medically appropriate in patients:
A. With a fetus with one or more major structural abnormalities identified on ultrasonographic examination; (CONDITION MET as the patient has thickened nuchal translucency) and
B. Who are undergoing invasive prenatal diagnostic testing. (CONDITION MET as the patient underwent CVS [chorionic villus sampling]).

Again, based on the standard of care, the testing Chromosomal Microarray (CMA) Analysis Genetic testing provided was medically necessary.