Appeal type: Medical necessity
Decision: Overturned

Diagnosis: Encounter for supervision of other normal
pregnancy, first trimester
Treatment: Genetic Testing (fetal chromosome analysis)
The insurer denied the Genetic Testing (fetal chromosome analysis)
The denial is overturned, in part.

The patient is pregnant woman (first trimester) who received genetic screening by fetal cell-free DNA (Deoxyribonucleic acid) testing in maternal blood for trisomy 21, 18, 13, and sex chromosomal abnormalities (Current Procedural Terminology [CPT] code 81420), as well as for microdeletions (Current Procedural Terminology [CPT] code 81422) DiGeorge deletion, 1p36, Angelman, Cri-du-chat, and Prader-Willi syndrome.  This particular vendor (Natera) bundles the DiGeorge microdeletion with the standard aneuploidy screening 81420 rather than as part of the extended panel that consists of the other four microdeletions which are coded as 81422.  There is no evidence presented that the patient was at any increased risk for the microdeletion conditions based on genetic history of herself or her partner.

The patient contends that the genetic screening testing is medically necessary for patients in her maternal age group.  She also states a concern that the test was billed twice.

Yes, in part, the requested genetic testing (fetal chromosome analysis) is medically necessary. The basic noninvasive prenatal testing (NIPT) panel (Current Procedural Terminology [CPT] code 81420) is medically necessary (the DiGeorge deletion is bundled as part of this charge by the vendor Natera); however, the extended panel (Current Procedural Terminology [CPT] code 81422), which tests for the other four microdeletions, is not medically necessary.
The health plan contends that both procedures were not medically necessary based on the health plan's medical policy and refers to a medical policy concerning carrier screening procedures which requires a history of multiple pregnancy losses or a family or ethnic history for the diseases in question. However, it is important to note that the procedures in question are not the carrier screening procedures cited in the medical policy, which seek to identify autosomal recessive genes in a parent's blood to determine if a current or future pregnancy is at risk due to carrier state in the genome of one or both of the parents for an autosomal recessive disease.  Cell-free deoxyribonucleic acid (DNA) testing, which is the testing that was performed and is being contested (Current Procedural Terminology [CPT] code 81420), seeks to identify abnormalities in the number of chromosomes of the fetus in a current pregnancy by studying fetal deoxyribonucleic acid (DNA) found in maternal blood samples and is a different technology done for a different purpose, as it screens for abnormalities in the fetus of a current pregnancy as opposed to determining if the parents carry a risk for a condition.  The extended screen, Current Procedural Terminology (CPT) code 81422, seeks to identify specific genetic conditions by detecting deletions known to be associated with disease phenotypes, again by studying cell-free fetal deoxyribonucleic acid (DNA) in maternal blood.

The American College of Obstetricians and Gynecologists (ACOG) has established screening for aneuploidy as a part of standard prenatal care.  There are multiple strategies for accomplishing this testing.  Since the advent of cell-free deoxyribonucleic acid (DNA) testing in maternal blood, it has been determined for patients at high risk for aneuploidy, including patients over the age of 35 at the time of expected date of delivery as is the case for this patient, the cell-free deoxyribonucleic acid (DNA) approach is effective and indicated for its intended purpose of screening for the common aneuploidies 21, 18, and 13, and numerical sex chromosome disorders in the fetus, and is recommended by the American College of Obstetricians and Gynecologists (ACOG) for this purpose.  However, due to poor test performance, lack of clinical validation, and low positive predictive value, the microdeletion cell-free deoxyribonucleic acid (DNA) screening analyses are not considered effective at the present state of the technology and are not recommended by the American College of Obstetricians and Gynecologists (ACOG) for this purpose.

Yes, in part, the health plan acted reasonably, with sound medical judgment and in the best interest of the patient in denying Current Procedural Terminology (CPT) code 81422, screen for fetal microdeletions by cell-free deoxyribonucleic acid (DNA) in maternal blood.   However, the health plan did not act reasonably, with sound medical judgment and in the best interest of the patient in denying Current Procedural Terminology (CPT) code 81420, screen for fetal aneuploidies and numerical sex chromosome abnormalities by cell-free deoxyribonucleic acid (DNA) in maternal blood.

As noted above, cell-free deoxyribonucleic acid (DNA) screening for aneuploidies and numerical sex chromosome abnormalities, Current Procedural Terminology (CPT) code 81420, has been demonstrated to be effective in screening for these disorders and is recommended by the American College of Obstetricians and Gynecologists (ACOG) as part of standard prenatal care for women over the age of 35 at the estimated date of delivery.  However, the cell-free deoxyribonucleic acid (DNA) microdeletion screening test, Current Procedural Terminology (CPT) code 81422, does not have validation or adequate test performance to merit its use at the current state of the technology and is not recommended by the American College of Obstetricians and Gynecologists (ACOG).