Coverage Policies

Effective Date:

a)    This policy will apply to all services performed on or after the above revision date which will become the new effective date.

b)    For all services referred to in this policy that were performed before the revision date, contact customer service for the rules that would apply.

This policy outlines medical necessity criteria for cystic fibrosis (CF) and spinal muscular atrophy (SMA) carrier screening as well as carrier screening for members of Ashkenazi Jewish Ancestry (AJA) as recommended by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG).

Carrier screening for CF and SMA is recommended for all women early in their pregnancy if they have not previously been tested.  Carrier screening for the male partner is usually only needed if the woman has a positive screening test (pre-authorization required).  Carrier screening for AJA should be based on a plausible history of Ashkenazi ancestry (pre-authorization required).

1)    Carrier screening should be submitted with diagnosis code Z31.430 for women and Z31.440 for men

2)    QualChoice considers CF carrier screening (CPT® code 81220) or SMA carrier screening (81401) medically necessary (without pre-authorization) for women who are pregnant and meet the following criteria:

a)    No prior CF or SMA screening results are available, and

b)    Pregnancy ≤ 22 weeks gestation, and

c)    Underwent pretest counseling.

3)    QualChoice considers AJA carrier screening (81412) medically necessary (with pre-authorization) for women who are pregnant and meet the following criteria:

a)    A plausible history of Ashkenazi ancestry, and

b)    No prior AJA screening results are available, and

c)    Pregnancy ≤ 22 weeks gestation, and

d)    Underwent pretest counseling.

4)    CF, SMA or AJA carrier screening always requires pre-authorization for men (and must meet the following medical necessity criteria):

a)    A pregnant spouse with an abnormal carrier screening test, and

b)    Pregnancy ≤ 22 weeks gestation, and

c)      Underwent pretest counseling.

Codes Used In This BI:

1)    81221-81224 are not considered carrier screening and always require pre-authorization regardless of gender or diagnosis.

CF is a genetic disorder that causes the body to make thick, sticky secretions that clog the lungs and other organs such as the digestive system. More than 10 million Americans are carriers of a defective CF gene and show no symptoms of the disease. CF is a recessive disorder, therefore, an abnormal gene must be inherited from both parents in order for the child to develop CF. Carrier testing may provide an early indication as to whether a fetus might either be a carrier or might develop CF.

SMA is an autosomal recessive disorder that causes degeneration of spinal cord motor neurons which leads to atrophy of the skeletal muscles. People with SMA experience overall weakness in the voluntary muscles, as well as trouble breathing and swallowing. Approximately 6 million Americans are carriers for SMA, with 1 in 6,000 to 1 in 10,000 live births being diagnosed with SMA. SMA is the leading genetic cause of infant mortality. Most cases of SMA result from both parents being carriers, but approximately 2% of cases are the result of a new gene mutation.

For either CF or SMA, if the maternal screening test is positive, the father of the baby must also be tested to determine if he is a carrier. If negative, no further testing is needed. If both the mother and father test positive for a defective gene, the infant will most likely be a carrier like the parents (50% chance). However, there is a 25% chance that the infant will have the disease.

If both parents are carriers, chorionic villus sampling or amniocentesis can be performed to see whether the fetus has the disease. Since these are both invasive procedures that carry a slight risk to the fetus, further testing should only be performed if and when the course of the pregnancy will be altered based on results of the testing.

Ashkenazi Jewish ancestry is associated with an increased incidence of Fanconi Anemia, Nieman Pick Disease, Bloom Syndrome, Mucolipidosis IV, Gaucher Disease, Familial Dysautonomia, Tay-Sachs/Hexosaminidase A Deficiency and Canavan Disease.  Since these diseases are less common in the general population, the panel of tests screening for carrier status is reserved for use when there is plausible/suggestive family history.

1.    The American College of Obstetricians and Gynecologists. Carrier screening for genetic conditions. Committee Opinion, Committee on Genetics, No 691, March 2017.

2.    Cystic Fibrosis Foundation. CF Genetics. Accessed online at: http://www.cff.org/AboutCF/Testing/Genetics/ .