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Effective Date: 09/01/2007 Title: Fetal Genetic Testing
Revision Date: 01/01/2020 Document: BI205:00
CPT Code(s): 76813, 76814, 81507, 81420, 81422, 81507, 81508, 81511, 81599, 84163, 84702, 0124U, 0125U, 0126U
Public Statement

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.

1)    Prenatal screening for trisomy is routinely offered to all pregnant women.  All other forms of prenatal genetic testing requires preauthorization.

2)    Fetal genetic testing can be done in a number of ways. All testing is designed to screen for:

a)    the most common chromosomal anomalies; or

b)    several common congenital problems (spina bifida); or

c)     specific inherited diseases of which the parents are known carriers.

3)    The standard blood testing done early in the second trimester which includes the maternal alpha-fetoprotein test for spina bifida is covered.

4)    Testing for specific inheritable diseases requires pre-authorization (see policies on BI072 Chorionic Villus Sampling and BI017 Amniocentesis.

5)    Four different tests for chromosomal anomalies are covered:

a)    Second trimester (about 16 weeks) amniocentesis; OR

b)    Late first trimester to early second trimester chorionic villus sampling; OR

c)     First trimester triple screening, consisting of ultrasound for fetal nuchal lucency done in conjunction with beta-human chorionic gonadotropin (bHCG) and pregnancy-associated plasma protein A (PAPP-A). All three tests must be done at the same time or none of the three is covered.

d)    Testing of maternal serum for cell free fetal DNA (if a singleton pregnancy and the sample is collected between 9-20 week gestation).

Medical Statement

1)    QualChoice will cover fetal genetic testing under certain circumstances:

a)    Amniocentesis is described under the policy on BI017 Amniocentesis.

b)    Chorionic villus sampling (CVS) is described under the policy on BI072 Chorionic Villus Sampling.

c)    The first trimester “triple test” or early second trimester “quadruple test” is covered under certain circumstances:

i)     The parents must receive counseling before the tests are done.

ii)    The parents must be willing to consider pregnancy termination in the case that a sufficient abnormality is detected. See our policy on BI206 Elective Abortion.

iii)   There must be an appropriate indication for the procedure (defined by QualChoice in section 2 below).

iv)   All three tests must be ordered at essentially the same time by the physician performing/interpreting the ultrasound.

2)    The indications for specific fetal genetic testing recognized by QualChoice are:

a)    A history of either mother or father having previously parented a genetically abnormal child.

b)    A family history of an inheritable disease for which there are characteristics that can be defined and detected in cell culture:

i)     This would apply only to CVS or Amniocentesis.

ii)    If the disease is a recessive trait, BOTH parents must have been tested and found to be carriers.

iii)   If the disease is an autosomal dominant trait, EITHER parent must have been tested and found to be a carrier (or a victim) of the disease.

iv)   If the disease is an X-linked trait, then either:

(1)  Father has the disease; OR

(2)  Mother is a carrier.

3)    Cell free fetal DNA screening for aneuploidy is covered in singleton pregnancies when the sample is collected between 9-20 weeks gestation.

4)    Testing for Cri-du-chat and DiGeorge syndrome is not done routinely and therefore requires pre-authorization

5)    Screening for congenital abnormalities with five analytes is considered experimental/investigational and not covered.

Codes Used In This BI:

76813  Ob us nuchal meas 1 gest

76814  Ob us nuchal meas add-on

81599  Unlisted multianalyte assay with algorithmic analysis

81508 Fetal congenital abnormalities, biochemical assays of two proteins

81511 Fetal congenital abnormalities, biochemical assay of 4 analytes (AFP, uE3, hCG, DIA)

84163 PAPP-A serum

84702 Chorionic gonadotropin test

81507 Fetal aneuploidy DNA sequence analysis using maternal serum (chrom 13, 18, 21)

81420 Fetal chrom analysis panel using mat serum (chrom 13, 18, 21)

81422 Fetal chrom microdeletion anal using mat serum (DiGeorge syndr, Cri-du-Chat syndr)

0009M Fetal aneuploidy trisomal risk Deleted code eff 01/01/2020








1)    Background Fetal genetic testing is cost-effective only when the risk of an anomaly is significant and remains significant compared with the risk of a false-positive test. Fetal genetic testing should only be utilized when it will assist parents and providers with making decisions about the management of the pregnancy. Genetic counseling for the parents (whether done by the obstetrician or by a professional genetic counselor) is very important in assisting with the decision-making process.

2)    When one of the management decisions to be made regards termination of an abnormal pregnancy, early diagnosis is an important consideration. The earlier the diagnosis is made, the easier, safer, less expensive and more likely the pregnancy termination becomes.

a)    If termination of the pregnancy in the case of an abnormal fetus is not an alternative that would be considered by the parents, then none of the fetal genetic tests will affect management, and none of them should be ordered.

b)    If the risk of anatomic abnormalities in the fetus are considered to be a pregnancy management consideration, then mid- to late- second trimester fetal ultrasound for anatomic survey should be employed to assess for those anatomic anomalies; genetic testing of the fetus does not provide the information needed to affect management.

3)    There are four basic pathways to fetal genetic diagnosis: amniocentesis, chorionic villus sampling, the first trimester “triple test”, and cell free fetal DNA testing There are advantages and disadvantages to each, which must be weighed in the decision of which is to be used.

a)    Amniocentesis and chorionic villus sampling obtain fetal tissue for tissue culture. They have the advantage of being direct and definitive, but the disadvantage of being invasive (which carries a small risk of inducing a miscarriage of a normal fetus) and, especially amniocentesis, available only somewhat later in the pregnancy.

b)    The first trimester “triple test” has the advantage of being noninvasive and early in pregnancy, but has the disadvantage of not being definitive; confirmation of a diagnosis is generally required.

c)     Cell free fetal DNA screening from maternal serum in high risk singleton pregnancies can identify 98% of Down syndrome (Trisomy 21) with a false-positive rate of less than 0.5%.  Such screening can reduce the need for amniocentesis or CVS, either of which carries a risk of miscarriage.  Unlike amniocentesis or CVS, cell free fetal DNA screening only screens for the common trisomies (21, 18, and 13).  Performance of all tests is equally effective at identifying these three relatively common trisomies.  MaterniT21-Plus also reports identification of microdeletion syndromes and Trisomy 16 and Trisomy 22; Panorama reports identification of micro deletion syndromes and triploids.  There is no to minimal published evidence to support these uses. 

d)    Amniocentesis will also detect spinal cord defects that neither of the other tests will discover; they will therefore both require performing the MSAFP test to screen for spinal cord defects.


1)    Gregg AR, Skotko BG, Benkendork MS, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: A position statement of the American College of Genetics and Genomics. Genet Med. published online July 28, 2016. Available at: .

2)    ACOG and SMFM Practice Bulletin No. 163, May 2016. Screening for fetal aneuploidy. Obstet Gynecol. 2015 May; 127(5):e123-e137.

3)    ACOG Practice Bulletin No. 162. Prenatal diagnostic testing for genetic disorders. Obstet Gynecol. 2016 May; 127(5):976-978.


1.    Effective 05/01/2017: Clarification for claims processing that only one genetic test for trisomy will be covered (to prevent duplicative testing) with no maternal age restriction or prior authorization required.

2.    Effective 09/01/2019: Quad test coverage added and 81422 with PA.

3.    Effective 10/01/2019: New CPT codes added.

4.    Effective 01/01/2020: Code update – Code 0009M deleted eff 01/01/2020

5.    Effective 07/01/2020: Codes 0124U, 0125U & 0126U deleted

Application to Products

This policy applies to all health plans and products administered by QualChoice, both those insured by QualChoice and those that are self-funded by the sponsoring employer, unless there is indication in this policy otherwise or a stated exclusion in your medical plan booklet.  Consult the individual plan sponsor Summary Plan Description (SPD) for self-insured plans or the specific Evidence of Coverage (EOC) or Certificate of Coverage (COC) for those plans or products insured by QualChoice.  In the event of a discrepancy between this policy and a self-insured customer’s SPD or the specific QualChoice EOC or COC, the SPD, EOC, or COC, as applicable, will prevail.  State and federal mandates will be followed as they apply.

Changes: QualChoice reserves the right to alter, amend, change or supplement benefit interpretations as needed.
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