Billing Scenarios for imaging and aneuploidy screening in the first trimester

Coding White Papers,

The Society for Maternal-Fetal Medicine (SMFM) Coding Committee: Vanita Jain, MD; Amie Hollard, MD; Steve Rad MD; Trish Malisch, CCS-P, CPC; Fadi Bsat, MD.

Testing for chromosome abnormalities should be an informed patient choice, based on information from a medical provider accounting for the patient’s clinical context, values, interests, goals, and appropriate health care resources.1  With the development of the new Detailed First Trimester Anatomy Ultrasound, the SMFM Coding Committee presents various billing scenarios related to imaging and aneuploidy screening that could occur in pregnancy.2  The SMFM Coding Committee has previously provided interim guidance in coding for the Detailed First Trimester Anatomy Ultrasound (DFTU/DFTA) in a White Paper published in June 2021 and available on the SMFM Website.3

Prenatal genetic screening includes serum screening with/without nuchal translucency (NT), cell-free DNA (cfDNA)/non-invasive prenatal testing (NIPT), invasive diagnostic testing (CVS or amniocentesis).  ACOG & SMFM currently recommend that screening and diagnostic options be discussed and offered to pregnant patients regardless of age or risk for chromosome abnormality.1 ACOG & SMFM support the right of every patient to pursue or decline these options.1

What are the different CPT codes utilized for prenatal genetic screening?

1.     cfDNA/NIPT (CPT - 81420)

This CPT is defined as a fetal chromosomal aneuploidy genomic sequence analysis panel, circulating cell-free fetal DNA in maternal blood.  This test, cfDNA/NIPT, screens for specific aneuploidies using the analysis of cell-free DNA fragments in the maternal circulation starting at 9-10 weeks of pregnancy. Unlike analyte screening, it can also be done any time later in pregnancy. Cell-free DNA/NIPT is the most sensitive and specific screening test for common fetal aneuploidies.1 Because there are both false positive and false negative results, NIPT is NOT equivalent to diagnostic testing. There are currently several laboratory methods to analyze cfDNA, and the detection rate is comparable between them4, 5, 6, 7.

2.    Serum Analytes and NT imaging (76813/76814)

This combination of tests is typically performed by providers when the CRL measures between 38-84 mm (generally 10 -14 weeks gestation).  The first-trimester screen (CPT 76813/76814) includes an NT measurement, crown-rump measurement, and confirmation of fetal cardiac activity.  The first-trimester screen (FTS) also adds the measurement of serum analytes that can include serum bHCG and pregnancy-associated plasma protein-A (PAPP-A) and, in some labs, Alpha-Fetoprotein (AFP) levels.  The laboratory CPT codes include 84163 (PAPP-A), 84704 (free beta-HCG), 82105 (AFP), and sometimes a 86336 (inhibin).  A combination lab code 81509 is sometimes used.  Please note that the laboratory CPT codes are billed by the performing lab, not the MFM specialist. The MFM specialist would only bill for ultrasound or other procedures and E/M services rendered in their practice at the time of the visit.  Some MFMs also opt to document presence or absence of the nasal bone and submit this result to the lab company with analytes.  There is NO CPT code for nasal bone assessment, but providers/labs do note that visualization can improve the sensitivity and specificity of the test.  A risk estimate for common trisomies is calculated using test results and maternal factors such as age, history of aneuploidy, weight, race, and number of fetuses.  The ultrasound component of this test (76813/4) is a particular study that refers to the measurement of the NT (fluid-filled space on the dorsal aspect of the fetal neck), and as noted above, measurement of the CRL and fetal heart rate.  An enlarged NT is associated with an increased risk for aneuploidy and other structural malformations. 

Meticulous technique is necessary, and credentialing is often required. The 76813/4 codes were first established in 2007. The code is defined as real-time imaging of the nuchal translucency (NT) in a single or first fetus, using either a transabdominal or transvaginal approach.  Previously the only indication for performing the 76813 and 76814 examinations was to measure the fetal nuchal translucency as one component of screening for fetal aneuploidy (i.e., first-trimester ultrasound screening, first trimester combined ultrasound and maternal serum screening, combined first and second-trimester sequential screening, combined first and second trimester integrated screening).  ACOG and SMFM still recommend a second-trimester ultrasound for fetal structural defects (76805 or 76811) since these may occur with or without fetal aneuploidy

3.    Other Serum Screening tests

a)   QUAD Screen CPT Codes: 82105, 86336, 82677, 84702 <OR> combination code 81511.

This test is performed from 15-22 weeks of gestation.  This serum test does NOT require performance of specialized ultrasound but can give information regarding the risk of open fetal defects and the risk assessment for trisomy 21 and 18/13.

b)   Combined first trimester and second-trimester screening

This can be in the form of integrated, sequential, or contingent screening that will involve serum analytes, NT, or both.

4.    Ultrasound Codes for fetal anatomy

Before cfDNA/NIPT screening is performed or in conjunction with screening, a baseline sonogram is recommended by ACOG and SMFM.1 They note that this may be useful as some ultrasound findings detectable early in pregnancy may affect the timing of the cfDNA testing, the appropriateness of performing cfDNA testing, or the interpretation of cfDNA test results.  They note considerations such as an earlier than expected gestational age of the fetus, confirmation of viability, number of fetuses, presence of a vanishing twin or empty gestational sac, or presence of a fetal anomaly. They do not give a specific gestational age for when such imaging should occur.  Best practices would suggest that if utilized for dating, then an early CRL measurement would be preferred.  If dating is confirmed, imaging to evaluate the fetal anatomy, the placenta, and maternal structures is optimal later in the first trimester.  Imaging maternal and fetal anatomy is currently covered by four different ultrasound codes:

a)      76801/76802

This is defined as the Standard first-trimester Diagnostic Obstetric Ultrasound Examination as described in 2018 in collaboration with the AIUM, ACR, ACOG, SMFM, and the SRU.8 The CPT definition describes this code as “Ultrasound pregnant uterus, real-time image documentation, fetal and maternal evaluation, first trimester (<14 weeks 0 days), transabdominal approach single or first gestation.” 76802 applies to the 2nd, or additional gestation(s), in a multiple gestation. The 76801 code can be applied more than once in the first trimester if there is a clear indication for the study each time, and if all the study elements are imaged or met.  Though payers may suggest that 76815 or 76816 be utilized, these codes were intended for use only in the 2nd or 3rd trimester, and when initially created these codes were assigned a value based on this intent. 

b)     The new DFTU/DFTA – unassigned CPT

This new code is currently unassigned but refers to the Detailed Diagnostic Obstetric Ultrasound Examination between 12 weeks 0 days and 13 weeks 6 days as delineated in the corresponding AIUM Practice Parameter.2 It is an indication driven examination for women at increased risk for fetal or placental abnormalities. Performance and interpretation of this examination requires advanced training, knowledge, and imaging skills. Performance of this exam is expected to be rare outside of referral practices with special expertise in the identification and diagnosis of fetal anomalies or placental implantation disorders in the first trimester.  Accreditation is not currently available for practices but is anticipated.  Currently, the SMFM Coding committee has opted to recommend billing a 76801 AND 76813 when a detailed obstetric ultrasound study is done in the first trimester.3 We acknowledge that the code descriptors for the 76813 or the 76801 do NOT account for or include the extensive images/views required for the DFTU. At this time, this is interim guidance only based on the RVU’s assigned to each code. The SMFM Coding committee is working with ACOG, AIUM, and ACR to obtain a new code for this study.  An alternative option is to utilize the fetal diagnostic ultrasound procedure unassigned code (76999), submit a formal claim and/or appeal.  Discussing how to bill this study until a code is assigned will be payer dependent.  If your practice is planning to institute a DFTU imaging protocol in the first trimester discussing options for billing/reimbursement with your large payer groups may be helpful to limit claims denials.

c)      76805/76810

This code is described in the same document as noted above for the 76801.8,9 This reflects a standard anatomy evaluation of the fetus in the 2nd or 3rd trimesters. The CPT book describes this code as “Ultrasound, pregnant uterus for examination of the first or single fetus and to examine the mother after the first trimester, or greater than or equal to 14 weeks 0 days using a transabdominal approach.” 76810 would be applied to the 2nd, or each additional, gestation(s) in a multiple gestation.

d)     76811/76812

The requirements for this study can be found in the AIUM practice parameter Performance of the Detailed Second and Third Trimester Diagnostic Obstetric Ultrasound Examination.9,10 This is not intended to be a routine ultrasound examination for all pregnancies, which is the purpose of the 76805 examination. Instead, it is an indication-drive examination performed for a known or suspected fetal anatomic abnormality, known or suspected fetal growth disorder, genetic abnormality, or increased risk for a fetal anatomic or genetic abnormality or placenta accreta spectrum.9,10  Performance and interpretation of a detailed fetal anatomic scan requires advanced skills and knowledge and effectively communicating the findings to the patient and the referring physician. Thus, the performance of the detailed obstetric examination should be rare outside referral practices with special expertise in the identification and diagnosis of fetal anomalies and placental implantation disorders. Only one such medically indicated study per pregnancy per practice is appropriate. 

5.     Diagnostic Tests:

a)   Amniocentesis with ultrasound guidance – 59000 + 76946

b)   CVS with ultrasound guidance – 59015 + 76945

Screening and diagnostic testing for chromosome abnormalities should be discussed and offered to all patients early in pregnancy regardless of maternal age or baseline risk. Which tests are offered tests depends on gestational age of presentation of the patient to your practice?  There is no screening test (analytes or ultrasound) that will perform optimally in all clinical scenarios.  Screening tests (analytes or ultrasound) will always detect fewer abnormalities than diagnostic testing that includes microarray. Ultrasound is different than serum screening and invasive diagnostic testing in that it evaluates for fetal structural and other abnormalities otherwise undetectable by those tests.

Let us review some patient examples:

1.    A 29-year-old presents to your office for prenatal testing counseling. You see the patient and counsel regarding options.  There are no other risk factors and no indication to perform a DFTU. 

a)   If the patient decides to pursue FTS alone and assuming there are no other problems and adequate dating, you will bill a 76813 (NT) + serum analytes (lab to bill).  There may be a regional difference here, and some MFM practices/referring groups will perform a 76801 if this is the first visit and the patient has NOT had the adnexa, uterus imaged previously.

b)   The patient decides to pursue FTS, and as above you perform the 76813.  The CRL is 82mm, the FHR is 146, but the NT measurement is 3.89mm.  You now evaluate the entire fetal anatomy and maternal structures as there is an indication to do so (abnormal NT).  You then counsel the patient about her options such as NIPT/cfDNA, CVS or amnio with/without microarray.  After counseling the patient decides to do an NIPT.  In this unusual scenario we WOULD recommend billing the 76801, 76813 (it was done and abnormal, which prompted then the further counseling), an E/M code for your counseling and discussion, and then the lab would bill out the NIPT. 

c)   If the patient decides instead to pursue cfDNA/NIPT, and assuming there is good dating and no other problems, the lab will bill 81420 for the NIPT screen.  However, as recommended you also perform an ultrasound to evaluate and screen the fetus for any apparent anomalies and for dating. This is a standard FTU (the patient does NOT have indications for a DFTU), and so you would bill CPT 76801.

d)   The same patient presents already knowing her cfDNA/NIPT results.  You would only perform the first-trimester ultrasound to evaluate for any abnormalities and confirm dating, sac number, and placentation.  Bill CPT 76801

e)   The same patient presents who had a 76801 at 6 weeks for unsure dates. The patient was seen by your practice/MFM at 10 weeks and decided to pursue NIPT 81420. She then returns at 12 weeks for standard FTU (no indication then for a DFTU) billed as a 76801.

In the above scenarios, the ICD-10 code associated with the performed 76801 would be Z36.3 (Encounter for antenatal screening for malformations). If an E/M service is also performed during the same encounter as the ultrasound, other than to explain the risks and benefits of the procedure, it would be appropriate to bill the appropriate E/M service in addition to the procedure if all the elements of the E/M are also met.  If only normal results are being provider, NO additional E/M service should be billed.  If however abnormal results are noted, or there is a discussion that is MORE substantive than explaining risks/benefits of the studies/tests being performed, it would then be appropriate also to bill an E/M code.  Modifier -25 may need to be attached to the E/M service to indicate it is a separately identifiable service from the procedure(s) in this scenario.

2.    A 40-year-old multigravida patient with a history of prior pregnancy complicated by fetal situs inversus presents at 13 weeks for genetic testing. After counseling, she declines invasive testing, opting for cfDNA.  Given the patient’s age and the prior affected fetus, you also recommend a DFTU.  As we currently do NOT have a code for DFTU, the SMFM coding committee suggests submitting (see White Paper3) the following codes: 81420 for the NIPT (lab to bill), and 76801 + 76813 for the ultrasound evaluation.  You must document and meet all required elements for each code. Appropriate ICD-10 diagnosis codes in this scenario include: O09.521, O35.2xx1, O09.21, Z82.79. Only if the scan is abnormal and you counsel about the findings would an additional E/M service with modifier-25 be appropriate. 

3.    A 19-year-old presents to your office at 19 weeks, interested in genetic testing but only if covered by insurance.  The patient decides to have a QUAD Screen.  You also recommend evaluation of the fetal anatomy. You would bill CPT 76805 for ICD Z36.3. The lab would bill CPT 82105, 82677, 94702, 86336.

4.    A 40-year-old presents to your office after an abnormal FTS for Down Syndrome.  The lab report notes a Risk of Down Syndrome of 1/5.  The patient is now 16 weeks gestational age. The early fetal anatomy (DFTU) appeared normal at 12 weeks 4 days.   You counsel and after shared decision making the plan is for:

a)   Amniocentesis – Bill CPT 59000 + 76946. If you perform a detailed fetal anatomic survey at this visit, also bill CPT 76811. 

b)   NIPT and detailed anatomy – the lab would bill CPT 81420, and you would bill CPT 76811.  ACOG currently supports utilizing cfDNA screening as a follow-up for patients with a screen positive serum analyte screening test as an option for patients who wish to avoid invasive diagnostic testing. They also note that the patient must be informed that this approach may delay definitive diagnosis and fail to identify some fetuses with chromosome abnormalities.

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1.    ACOG Practice Bulletin Number 226.  Screening for Fetal Chromosome Abnormalities.  Obstet Gynecol 2020; 136: e48-e69.

2.    AIUM Practice Parameter for the Performance of Detailed Diagnostic Obstetric Ultrasound Examinations between 12 weeks 0 days and 13 weeks 6 days. J Ultrasound Med 2020; 9999: 1-16.

3.    Jain VD, Bsat FB.  SMFM Coding Committee White Paper: Coding for the new First Trimester Detailed Diagnostic obstetric Ultrasound.

4.    Society for Maternal-Fetal Medicine (SMFM) with the assistance of Mary E. Norton, MD; Joseph R. Biggio, MD; Jeffrey A. Kuller, MD; Sean C. Blackwell, MD. Consult Series # 42: The role of ultrasound in women who undergo cell-free DNA screening. Am J Obstet Gynecol 2017;216:B2-B7.

5.    American College of Obstetricians and Gynecologists. Cell-free DNA screening for fetal aneuploidy. ACOG Committee opinion # 640. Obstet Gynecol 2015;126:e31-7.

6.    Society for Maternal-Fetal Medicine (SMFM) Publications Committee. Consult Series # 36: Prenatal aneuploidy screening using cell-free DNA. Am J Obstet Gynecol 2015;212:711-6.

7.    Society for Maternal-Fetal Medicine (SMFM) Publications Committee. SMFM statement: clarification of recommendations regarding cell-free DNA aneuploidy screening. Am J Obstet Gynecol 2015;213:753-4.

8.    AIUM- ACR – ACOG – SMFM – SRU Practice Parameter for the Performance of Standard Diagnostic obstetric ultrasound examination.  J Ultrasound Med 2018; 9999: 1-12

9.    AIUM Practice Parameter for the performance of the detailed second-and third trimester diagnostic obstetric ultrasound examinations.  J Ultrasound Med 2019; 38: 3093-3100

10. Bsat F. Detailed Fetal Anatomic Ultrasound Examination (76811): Updated ICD-10 Indications. J Ultrasound Med. 2021 Jul 7. doi: 10.1002/jum.15779. Epub ahead of print. PMID: 34232530.