CAM 119

Prenatal Screening

Category:Laboratory   Last Reviewed:April 2019
Department(s):Medical Affairs   Next Review:April 2020
Original Date:January 2016    

Background
Prenatal care in the U.S. is widely available and utilized, yet according to the Health Resources and Services Administration (HRSA), nearly 1 million American women (approximately 25% of all births) give birth each year without having adequate prenatal medical care. The risks associated with lack of prenatal care are significant. According to HRSA, "Babies born to mothers who received no prenatal care are three times more likely to be born at low birth weight, and five times more likely to die, than those whose mothers received prenatal care."

Prenatal care is most effective when a timely, comprehensive approach is taken to ensure the health of the mother and the baby. Ideally, factors related to diet, exercise, drug and alcohol use, smoking, family history, ethnic background, mental state and others are considered and addressed through education, counseling and testing. 

This policy focuses on laboratory testing performed during pre-conception and/or prenatal periods, as part of a comprehensive prenatal care program.

Policy 

  1. The following routine prenatal screening is considered MEDICALLY NECESSARY for all pregnant women:
    • Screening for HIV infection
    • Screening for Chlamydia trachomatis infection
    • Screening for N. gonorrhea infection
    • Screening for hepatitis B
    • Screening for syphilis
    • Screening for hepatitis C for pregnant women deemed to be at high risk as defined as meeting one of the following criteria: (past or current injection or intranasal drug use, long-term hemodialysis, being born to an HCV-infected mother, incarceration, individuals getting unregulated tattoos).
    • Screening for bacteriuria
    • Screening for Fetal aneuploidy
    • Screening for Type 2 diabetes at the first prenatal visit
    • Screening for gestational diabetes during gestational weeks 24 – 28 and at the first prenatal visit if risk factors are present
    • Determination of blood type, Rh(D) status, and antibody status during the first prenatal visit, and repeated Rh (D) antibody testing for all unsensitized Rh (D)-negative women at 24 to 28 weeks' gestation, unless the biological father is known to be Rh (D)-negative.
    • Screening for anemia meets coverage criteria with a CBC or hemoglobin and hematocrit with mean corpuscular volume
    • Screening for Group B strep once during gestational weeks 35 to 37
    • Urinalysis and urine culture
    • Rubella antibody testing
    • Testing for varicella immunity
    • Screening for tuberculosis in pregnant women deemed to be at high risk for TB (i.e., women with close contact with individuals with active pulmonary / respiratory tuberculosis or highly contagious active tuberculosis and women who are immunocompromised)
  2. Third trimester re-screening of Chlamydia trachomatis, Neisseria gonorrhea, syphilis, and/or HIV infections is considered MEDICALLY NECESSARY for pregnant women who meet ANY one of the following high-risk criteria:
    • Sexually active young individuals under 25 years,
    • New or multiple sexual partners,
    • Past history of sexually transmitted diseases (Bacterial Vaginosis, Chancroid, Chlamydia, Gonorrhea, Genital Herpes, Hepatitis B, Hepatitis C, HIV/AIDS, Human Papillomavirus, Lymphogranuloma Venereum, Syphilis, Trichomoniasis),
    • Current sex workers,
    • Past or current injection drug use
  3. For pregnant women and those women seeking pre-conception care, any of the following testing of carrier status is considered MEDICALLY NECESSARY:
    • Carrier testing for cystic fibrosis is in accordance with CAM 044-Genetic Testing for Cystic Fibrosis
    • Carrier testing for Canavan disease, Tay-Sachs disease, familial dysautonomia, Gaucher disease, Fanconi Anemia, Niemann-Pick type A, Bloom syndrome and mucolipidosis IV in Ashkenazi Jewish women
    • Carrier screening for Tay-Sachs disease in women of French-Canadian or Cajun heritage
    • Carrier screening for Fragile X syndrome when there is a family history of Fragile X syndrome (or a family history of undefined mental retardation/developmental delay).
    • Carrier screening for spinal muscular atrophy for all pregnant women and those seeking pre-conception care
    • Carrier screening for hemoglobinopathies in women of African, Southeast Asian,  Mediterranean, Middle Eastern or West Indian descent
    • Carrier testing for other genetic disorders when there is a family history of a genetic disorder and a properly validated test is available.  When there is a known familial mutation, testing should be limited to that mutation, when possible. (See General Genetic Testing policy for more details on appropriate criteria for genetic testing)
    • Preconception genetic testing (carrier testing) for hereditary hearing loss mutations (GJB2, GJB6, and other hereditary hearing loss-related mutations) in parents according to the policy CAM 20487-Genetic Testing for Nonsyndromic Hereditary Hearing
    • Next generation sequencing (NGS) panel testing of either Ashkenazi Jewish-related disorders panel or panethnic carriers screening panel of 15 tests as long as a single appropriate AMA genetic sequencing procedure test code is submitted.
  4. Carrier screening of the biological father is considered MEDICALLY NECESSARY when the biological mother is known or found to be a carrier of a recessively inherited disorder. Carrier testing limitations:
    • Repeat carrier screening for the same disorder does not meet coverage criteria. 
    • Carrier screening should be limited to once per lifetime per disorder for which the individual is at risk.
    • Carrier screening for a recessively inherited disorder with a carrier frequency of less than 1 in 50 in the specific population being tested does not meet coverage criteria
    • Panel testing is considered experimental and investigational
  5. Fetal Fibronectin (FFN) assays is considered MEDICALLY NECESSARY for pregnant women who meet ALL of the following criteria:
    • Singleton or twin gestations,
    • Intact membranes,
    • Cervical dilation <3 cm, and
    • Patient experiencing symptoms suggestive of preterm labor between 24 and less than 35 weeks' gestation.
  6. All other applications of the FFN assay are INVESTIGATIONAL, including, but not limited to the following:
    • As part of routine pregnancy monitoring in asymptomatic women with singleton gestation and no risk factors for preterm birth.
    • As part of clinical monitoring of asymptomatic women at high risk for preterm birth, including but not limited to those with multiple gestations, history of preterm birth, uterine malformation, cervical incompetence, or history of two or more spontaneous second trimester abortions.
    • As part of clinical monitoring in women with triplet or higher-order gestations, intact membranes, cervical dilation <3 cm, and who are experiencing symptoms suggestive of preterm labor.
    • As a test to identify women at term being considered for induction who are likely to deliver within 24–48 hours and therefore, do not require induction.
  7. Testing pregnant women for thyroid dysfunction is considered MEDICALLY NECESSARY if they have any of the following:
    • Symptoms of thyroid disease
    • Personal history of thyroid disease
    • Personal history of other medical conditions associated with thyroid disease (e.g. diabetes mellitus, goiter, iodine deficiency)
  8. Screening for Zika virus testing is covered in accordance with CAM 153  Zika Virus Testing
  9. Serial monitoring of salivary estriol levels as a technique of risk assessment for preterm labor or delivery is INVESTIGATIONAL.
  10. Fetal RHD genotyping using maternal plasma is considered MEDICALLY NECESSARY.
  11. Pre-conception carrier screening in patients with a family history of a known inherited disorder and if positive, testing of the partner is considered MEDICALLY NECESSARY.
  12. Prenatal genetic testing of a fetus is considered MEDICALLY NECESSARY if high risk for genetic disorder and a family history is present
  13. Pre-conceptional or prenatal genetic testing for inherited medical disorders that do not meet the above criteria is considered INVESTIGATIONAL.

Policy Guidelines 
The American College of Obstetricians and Gynecologists (ACOG) has a number of practice guidelines related to prenatal care and preconception and prenatal testing, and offers a checklist of topics to be considered during each trimester.

At the first prenatal visit, ACOG recommends the following tests: blood type and antibody screen; CBC or hemoglobin and hematocrit; platelet count; hepatitis B screening; HIV screening; urine culture; urine dip stick for glucose and protein; Chlamydia and N. gonorrhea testing; syphilis screening; rubella antibody testing; diabetes screening if at high risk; cervical cancer screening if due; and blood lead testing if at risk. Additional infectious disease screening, such as hepatitis C and toxoplasmosis, are recommended for at-risk individuals.

Rescreening for Chlamydia, N. gonorrhea, HIV and syphilis in the third trimester should be considered for individuals at high risk of acquiring these infections during pregnancy.

ACOG recommends screening for gestational diabetes during weeks 24 – 28, and screening for Group B strep at 35 to 37 weeks gestation.

ACOG also recommends evaluation of family history to identify potential risk for genetic disorders and recommends offering of genetic testing during pre-conception or prenatal visits:

  1. Cystic fibrosis carrier screening should be offered to all women of reproductive age, regardless of ethnicity
  2. Carrier screening for Tay-Sachs disease, Canavan disease and familial dysautonomia should be offered to women of Ashkenazi Jewish background pre-conception or early in pregnancy
  3. Information on carrier screening for other diseases occurring at a higher rate in the Ashkenazi Jewish population should be made available to patients who inquire about them
  4. Carrier screening for Tay-Sachs disease also should be offered to individuals of French-Canadian or Cajun heritage
  5. Women with a family history of Fragile X-related disorders should be offered testing for Fragile X syndrome
  6. Women who request Fragile X syndrome carrier screening in the absence of family history should be provided counseling and information and offered testing
  7. Women with a family history of spinal muscular atrophy (SMA) should be offered carrier screening for SMA
  8. Women without a family history of SMA who request SMA carrier screening should be provided counseling and information and offered testing
  9. Carrier screening for hemoglobinopathies should be offered to individuals of African, Southeast Asian and Mediterranean descent
  10. Aneuploidy screening should be offered to all pregnant women:
    • Prenatal screening for biochemical markers of aneuploidy and neural tube defects should be offered to all women, consistent with time of presentation for care and patient’s wishes. These include first trimester screening, sequential or integrated screening that incorporates both first and second trimester information and second trimester testing.
    • Invasive prenatal testing for aneuploidy should be made available to all women, regardless of age, either by karyotyping or chromosomal microarray.
    • Non-invasive prenatal screening for aneuploidy by detection of circulating cell-free fetal DNA may be offered to individuals whose pregnancies are high risk for aneuploidy.
  11. Individuals with a family history of a particular genetic disorder should be provided genetic counseling and offered testing for that disorder, regardless of ethnic background

For all genetic testing, ACOG notes that testing is voluntary and should be undertaken with informed consent. Genetic counseling is recommended for individuals with a family history of a genetic disorder and for those found to be positive for carrier status by carrier screening tests.

The Clinical Guide to Preventative Services, 2014, from The United States Preventive Services Task Force (USPSTF) recommends the following testing for pregnant women:

  1. Screening for hepatitis B virus (HBV) infection at the first prenatal visit
  2. Screening for asymptomatic bacteriuria with urine culture at 12 to 16 weeks' gestation or at the first prenatal visit if later
  3. Screening for gestational diabetes mellitus after 24 weeks of gestation
  4. Screening for hepatitis B virus (HBV) infection with the HBsAg test, at the first prenatal visit
  5. Screening for HIV, including those women who present in labor who are untested and whose HIV status is unknown
  6. Screening for iron deficiency anemia
  7. Rh (D) blood typing and antibody testing during the first prenatal visit
  8. Repeated Rh (D) antibody testing for all unsensitized Rh (D)-negative women at 24-28 weeks' gestation, unless the biological father is known to be Rh (D)-negative
  9. Screening for syphilis infection

Additional recommendations from the USPSTF that may be relevant during pregnancy include:

  1. Screening for chlamydia in sexually active women aged 24 years or younger and in older women who are at increased risk for infection
  2. Screening for gonorrhea in sexually active women aged 24 years or younger and in older women who are at increased risk for infection
  3. Screening for hepatitis C virus (HCV) infection in persons at high risk for infection, or a one-time screening for HCV infection in adults born between 1945 and 1965

However, the USPSTF recommends against the following tests during pregnancy:

  1. Screening for bacterial vaginosis in asymptomatic women
  2. Serological screening for herpes simplex virus (HSV) in asymptomatic pregnant women
  3. Screening for elevated blood lead levels in asymptomatic pregnant women
  4. Also, the USPSTF does not support screening of pregnant women for illicit drug use.

The American Diabetes Association recommends screening of asymptomatic pregnant women for Type 2 diabetes during the first prenatal visit and testing for gestational diabetes during weeks 24 – 28.

The Centers for Disease Control and Prevention (CDC) recommends:

  1. HIV screening for all pregnant women.
  2. Repeat HIV screening in the third trimester in areas with elevated rates of HIV infection among pregnant women
  3. Screening of all pregnant women for HBsAg during each pregnancy
  4. Testing of all pregnant women for syphilis during the first prenatal visit
  5. Chlamydia trachomatis screening at the first prenatal visit and repeat testing during the third trimester of those at high risk for acquisition
    • N. gonorrhea testing of all pregnant women at risk for infection or living in an area of high prevalence of N. gonorrhea
    • Screening for hepatitis C in pregnant women at high risk for infection

The CDC does not recommend testing of asymptomatic pregnant women for bacterial vaginosis.

The American College of Medical Genetics and Genomics (ACMG) recommends that the following genetic testing be offered to pregnant women:

  1. Fetal aneuploidy screening by serum biochemical markers or chromosome analysis of chorionic villus or amniotic fluid for average-risk and high-risk pregnancies
  2. Fetal aneuploidy screening by non-invasive testing for circulating cell-free fetal DNA in high risk pregnancies
  3. Cystic fibrosis carrier screening for all pregnant women and those considering pregnancy
  4. Carrier screening for spinal muscular atrophy for all pregnant women and those seeking pre-conception care
  5. Carrier screening for Canavan disease, familial dysautonomia, Tay-Sachs, Fanconi anemia (Group C), Niemann-Pick (Type A), Bloom syndrome, mucolipidosis IV and Gaucher disease for all Ashkenazi Jewish women who are pregnant or considering pregnancy
  6. Fragile X carrier screening for pregnant women and those considering pregnancy who have a family history of Fragile X syndrome or a family history of undefined mental retardation
  7. Carrier screening for other disorders for which there is a family history and for which there is a reliable test.

References 

  1. Health Resources and Services Administration, Maternal and Child Health. "Prenatal Services" accessed September, 2014 at: http://mchb.hrsa.gov/programs/womeninfants/prenatal.html
  2. United States Preventive Services Task Force, "Screening for Bacterial Vaginosis in Pregnancy to Prevent Preterm Delivery," February 2008. Accessed September 2014 at: http://www.uspreventiveservicestaskforce.org/uspstf/uspsbvag.htm
  3. United States Preventive Services Task Force, "Screening for Hepatitis B Virus Infection in Pregnancy," June 2009. Accessed September 2014 at: http://www.uspreventiveservicestaskforce.org/uspstf/uspshepbpg.htm
  4. United States Preventive Services Task Force, "Screening for Asymptomatic Bacteriuria in Adults," July 2008. Accessed September 2014 at: http://www.uspreventiveservicestaskforce.org/uspstf/uspsbact.htm
  5. United States Preventive Services Task Force, "Screening for Chlamydia and Gonorrhea," September 2014. Accessed September 2014 at:http://www.uspreventiveservicestaskforce.org/uspstf/uspsgono.htm
  6. United States Preventive Services Task Force, "Screening for Illicit Drug Use," January 2008. Accessed September 2014 at: http://www.uspreventiveservicestaskforce.org/uspstf/uspsdrug.htm 
  7. United States Preventive Services Task Force, "Screening for Gestational Diabetes Mellitus," January 2014. Accessed September 2014 at:http://www.uspreventiveservicestaskforce.org/uspstf/uspsgdm.htm
  8. United States Preventive Services Task Force, "Screening for Hepatitis B Virus Infection in Pregnancy," June 2009. Accessed September 2014 at: http://www.uspreventiveservicestaskforce.org/uspstf/uspshepbpg.htm
  9. United States Preventive Services Task Force, "Screening for Hepatitis C Virus Infection in Adults," June 2013. Accessed September 2014 at: http://www.uspreventiveservicestaskforce.org/uspstf/uspshepc.htm
  10. United States Preventive Services Task Force, "Screening for Genital Herpes," March 2005. Accessed September 2014 at: http://www.uspreventiveservicestaskforce.org/uspstf/uspsherp.htm
  11. United States Preventive Services Task Force, "Screening for HIV," April 2013. Accessed September 2014 at: http://www.uspreventiveservicestaskforce.org/uspstf/uspshivi.htm
  12. United States Preventive Services Task Force, "Screening for Iron Deficiency Anemia," May 2006. Accessed September 2014 at: http://www.uspreventiveservicestaskforce.org/uspstf/uspsiron.htm
  13. United States Preventive Services Task Force, "Screening for Elevated Blood Lead Levels in Children and Pregnant Women," December 2006. Accessed September 2014 at: http://www.uspreventiveservicestaskforce.org/uspstf/uspslead.htm
  14. United States Preventive Services Task Force, "Screening for Rh (D) Incompatibility," February 2004. Accessed September 2014 at: http://www.uspreventiveservicestaskforce.org/uspstf/uspsdrhi.htm
  15. United States Preventive Services Task Force, "Screening for Syphilis Infection in Pregnancy," May 2009. Accessed September 2014 at: http://www.uspreventiveservicestaskforce.org/uspstf/uspssyphpg.htm
  16. Branson BM, Handsfield HH, Lampe MA, Janssen RS, Taylor AW, Lyss SB, and Clark JE. "CDC Revised Recommendations for HIV Testing of Adults, Adolescents, and Pregnant Women in Health-Care Settings," MMWR, September 22, 2006 / 55(RR14);1-17
  17. CDC, "Hepatitis B Information for Health Professionals," Accessed September 2014 at: http://www.cdc.gov/hepatitis/HBV/PerinatalXmtn.htm
  18. American College of Obstetricians and Gynecologists. "Committee Opinion, Carrier Screening for Fragile X Syndrome," Number 469, October 2010. Accessed May 2014 at: http://www.acog.org/Resources_And_Publications/Committee_Opinions/Committee_on_Genetics/Carrier_Screening_for_Fragile_X_Syndrome
  19. Kronquist KE, Sherman SL, Spector EB. "Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines," Genet Med 2008; 10:845–847.
  20. ACOG Committee Opinion, "Update on Carrier Screening for Cystic Fibrosis." Number 486. Obstet Gynecol, 2011; 117:1028–31.
  21. "Cystic Fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel." ACMG Policy Statement, 2004; reaffirmed in 2013. Genet Med, 2004, 6:5:387-391. Accessed March 2014 at: https://www.acmg.net/ACMG/Publications/Practice_Guidelines/ACMG/Publications/Practice_Guidelines.aspx?hkey=b5e361a3-65b1-40ae-bb3e-4254fce9453a
  22. Gregg AR, Gross SR, Best RG, Monaghan KG, K. Bajaj K, Skotko BG, Thompson BH, and Watson MS, The Noninvasive Prenatal Screening Work Group of the American College of Medical Genetics and Genomics. "ACMG statement on noninvasive prenatal screening for fetal aneuploidy", Genetics in Medicine, Volume 15, Number 5, May 2013.
  23. ACOG Committee Opinion, "Noninvasive Prenatal Testing for Fetal Aneuploidy," Number 545, December, 2012. Accessed September 2014 at: http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Noninvasive-Prenatal-Testing-for-Fetal-Aneuploidy
  24. America Diabetes Association, "Standards of Medical Care in Diabetes 2013." Diabetes Care, vol. 36, Supplement 1, January, 2013. Pp. S11-66.
  25. Gross SJ, Pletcher BA and Monaghan KG. ACMG Practice Guidelines, "Carrier screening in individuals of Ashkenazi Jewish descent," Genetics in Medicine, January 2008, Volume 10, Number 1.
  26. Prior T. ACMG Practice Guidelines, "Carrier screening for spinal muscular atrophy," Genetics in Medicine, November 2008, Volume 10, Number 11.
  27. Driscoll DA and Gross SJ. ACMG Practice Guidelines, "First trimester diagnosis and screening for fetal aneuploidy," Genetics in Medicine, January 2008, Volume 10, Number 1.
  28. ACOG Committee Opinion, "Routine Human Immunodeficiency Virus Screening" Number 596, May 2014. Accessed September 2014 at: http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Gynecologic-Practice/Routine-Human-Immunodeficiency-Virus-Screening
  29. ACOG Committee Opinion, "The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis" Number 581, December 2013. Accessed September 2014 at: http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/The-Use-of-Chromosomal-Microarray-Analysis-in-Prenatal-Diagnosis
  30. ACOG Committee Opinion, "Lead Screening During Pregnancy and Lactation" Number 533, August 2012. Accessed September 2014 at: http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Obstetric-Practice/Lead-Screening-During-Pregnancy-and-Lactation
  31. ACOG Committee Opinion, "Spinal Muscular Atrophy" Number 432, May 2009. Accessed September 2014 at: http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Spinal-Muscular-Atrophy

Coding Section  

Codes Number Description
CPT 

0009M 

Fetal aneuploidy (trisomy 21, and 18) DNA sequence analysis of selected regions using maternal plasma, algorithm reported as a risk score for each trisomy 
 

80055

Obstetric panel (must include CBC, HbSAg, Rubella antibody, RBC antibody screen, qualitative non-treponemal antibody syphilis test, ABO blood typing and Rh D typing)
 

81001 

Urinalysis, by dip stick or tablet reagent for bilirubin, glucose, hemoglobin, ketones, leukocytes, nitrite, pH, protein, specific gravity, urobilinogen, any number of these constituents; automated, with microscopy 
 

81002 

Urinalysis, by dip stick or tablet reagent for bilirubin, glucose, hemoglobin, ketones, leukocytes, nitrite, pH, protein, specific gravity, urobilinogen, any number of these constituents; non-automated, without microscopy 
 

80081 

Obstetric panel (includes HIV testing) 
 

81003

Urinalysis, automated, without microscopy

 

81007

Urinalysis, bacteriuria screen, except by culture or dipstick
 

81171 (effective 01/01/2019)

AFF2 (AF4/FMR2 family, member 2 [FMR2]) (eg, fragile X mental retardation 2 [FRAXE]) gene analysis; evaluation to detect abnormal (eg, expanded) alleles 
 

81172 (effective 01/01/2019) 

AFF2 (AF4/FMR2 family, member 2 [FMR2]) (eg, fragile X mental retardation 2 [FRAXE]) gene analysis; characterization of alleles (eg, expanded size and methylation status) 
 

81200

ASPA (aspartoacylase) (eg, Canavan disease) gene analysis, common variants (eg, E285A, Y231X)
 

81209

BLM (Bloom syndrome, RecQ helicase-like) (eg, Bloom syndrome) gene analysis, 2281del6ins7 variant
 

81220

CFTR (cystic fibrosis transmembrane conductance regulator) gene analysis; common variants (eg, ACMG/ACOG guidelines)
 

81221

CFTR (cystic fibrosis transmembrane conductance regulator) gene analysis; known familial variants
 

81241 

F5 (coagulation factor V) (eg, hereditary hypercoagulability) gene analysis, Leiden variant 
 

81242

FANCC (Fanconi anemia, complementation group C) (eg, Fanconi anemia, type C) gene analysis, common variant (eg, IVS4+4A>T)
 

81243

FMR1 (Fragile X mental retardation 1) gene analysis; evaluation to detect abnormal (eg, expanded) alleles

  81244 FMR1 (Fragile X mental retardation 1) gene analysis; characterization of alleles (eg, expanded size and methylation status)
 

81251

GBA (glucosidase, beta, acid) (eg, Gaucher disease) gene analysis, common variants (eg, N370S, 84GG, L444P, IVS2+1G>A);
  81252 GJB2 (gap junction protein beta 2, 26kDa, connexin 26) (eg, nonsyndromic hearing loss) gene analysis, full gene sequence
  81253 known familial variants
 

81254

GJB6 (gap junction protein, beta 6, 30kDa, connexin 30) (eg, nonsyndromic hearing loss) gene analysis, common variants (eg, 309kb  (del(GJB6-D13S1830)) and 232 kb (del(GJB6-D13S1854));
 

81255

HEXA (hexosaminidase A [alpha polypeptide]) (eg, Tay-Sachs disease) gene analysis, common variants (eg, 1278insTATC, 1421+1G>C, G269S)
 

81257

HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis, for common deletions or variant (eg, Southeast Asian, Thai, Filipino, Mediterranean, alpha3.7, alpha4.2, alpha20.5, and Constant Spring)
 

81260

IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) (eg, familial dysautonomia) gene analysis, common variants (eg, 2507+6T>C, R696P)
 

81290

MCOLN1 (mucolipin 1) (eg, Mucolipidosis, type IV) gene analysis, common variants (eg, IVS3-2A>G, del6.4kb)
 

81329 (effective 01/01/2019)

SMN1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene analysis; dosage/deletion analysis (eg, carrier testing), includes SMN2 (survival of motor neuron 2, centromeric) analysis, if performed 
 

81336 (effective 01/01/2019) 

SMN1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene analysis; full gene sequence 
 

81337 (effective 01/01/2019) 

SMN1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene analysis; known familial sequence variant(s) 
 

81330

SMPD1 (sphingomyelin phosphodiesterase 1, acid lysosomal) (eg, Niemann-Pick disease, Type A) gene analysis, common variants (eg, R496L, L302P, fsP330)
  81400 Molecular pathology procedure, Level 1 (eg, identification of single germline variant [eg, SNP] by techniques such as restriction enzyme digestion or melt curve analysis)
 

81401

Molecular pathology procedure, Level 2 (eg, 2-10 SNPs, 1 methylated variant, or 1 somatic variant (typically using nonsequencing target variant analysis), or detection of a dynamic mutation disorder/triplet repeat)
 

81403

Molecular pathology procedure, Level 4 (eg, analysis of single exon by DNA sequence analysis, analysis of >10 amplicons using multiplex PCR in 2 or more independent reactions, mutation scanning or duplication /deletion variants of 2-5 exons) 

 

81404

Molecular pathology procedure, Level 5 (eg, analysis of 2-5 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 6-10 exons, or characterization of a dynamic mutation disorder/triplet repeat by Southern blot analysis)
 

81405

Molecular pathology procedure, Level 6 (eg, analysis of 6-10 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 11-25 exons, regionally targeted cytogenomic array analysis)
 

81406 

Molecular pathology procedure, Level 7 (eg, analysis of 11-25 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 26-50 exons, cytogenomic array analysis for neoplasia) 
  81420 Fetal chromosomal aneuploidy (eg, trisomy 21, monosomy X) genomic sequence analysis panel, circulating cell-free fetal DNA in maternal blood, must include analysis of chromosomes 13, 18, and 21
  81430 Hearing loss (eg, nonsyndromic hearing loss, Usher syndrome, Pendred syndrome); genomic sequence analysis panel, must include sequencing of at least 60 genes, including CDH23, CLRN1, GJB2, GPR98, MTRNR1, MYO7A, MYO15A, PCDH15, OTOF, SLC26A4, TMC1, TMPRSS3, USH1C, USH1G, USH2A, and WFS1 duplication/deletion analysis panel, must include copy number analyses for STRC and DFNB1 deletions in GJB2 and GJB6 genes
 

81431

Duplication/deletion analysis panel, must include copy number analyses for STRC and DFNB1 deletions in GJB2 and GJB6 genes
  81443 (effective 01/01/2019)  Genetic testing for severe inherited conditions (eg, cystic fibrosis, Ashkenazi Jewish-associated disorders [eg, Bloom syndrome, Canavan disease, Fanconi anemia type C, mucolipidosis type VI, Gaucher disease, Tay-Sachs disease], beta hemoglobinopathies, phenylketonuria, galactosemia), genomic sequence analysis panel, must include sequencing of at least 15 genes (eg, ACADM, ARSA, ASPA, ATP7B, BCKDHA, BCKDHB, BLM, CFTR, DHCR7, FANCC, G6PC, GAA, GALT, GBA, GBE1, HBB, HEXA, IKBKAP, MCOLN1, PAH) 
  81479  Unlisted molecular pathology procedure 
  81507 Fetal aneuploidy (trisomy 21, 18, and 13) DNA sequence analysis of selected regions using maternal plasma, algorithm reported as a risk score for each trisomy
  81508 Fetal congenital abnormalities, biochemical assays of two proteins (PAPP-A, hCG [any form]), utilizing maternal serum, algorithm reported as a risk score (Do not report 81508 in conjunction with 84163, 84702)
  81509 Fetal congenital abnormalities, biochemical assays of three proteins (PAPP-A, hCG [any form], DIA), utilizing maternal serum, algorithm reported as a risk score (Do not report 81509 in conjunction with 84163, 84702, 86336)
  81510 Fetal congenital abnormalities, biochemical assays of three analytes (AFP, uE3, hCG [any form]), utilizing maternal serum, algorithm reported as a risk score (Do not report 81510 in conjunction with 82105, 82677, 84702)
  81511 Fetal congenital abnormalities, biochemical assays of four analytes (AFP, uE3, hCG [any form], DIA) utilizing maternal serum, algorithm reported as a risk score (may include additional results from previous biochemical testing) (Do not report 81511 in conjunction with 82105, 82677, 84702, 86336)
  81512 Fetal congenital abnormalities, biochemical assays of five analytes (AFP, uE3, total hCG, hyperglycosylated hCG, DIA) utilizing maternal serum, algorithm reported as a risk score (Do not report 81512 in conjunction with 82105, 82677, 84702, 86336)
  82731 Fetal fibronectin, cervicovaginal secretions, semi quantitative
  82947 Glucose; quantitative, blood (except regent strip)
  82951  Glucose, tolerance test (GTT), 3 specimens (includes glucose) 
 

83020

Hemoglobin fractionation and quantitation; electrophoresis (eg, A2, S, C, and/or F)

 

83021 

Hemoglobin fractionation and quantitation; chromatography (eg, A2, S, C, and/or F) 
 

83036 

Hemoglobin, glycosylated (A1C) 
 

83080 

b-Hexosaminidase, each assay 
 

84999 

Unlisted chemistry procedure 
 

85004 

Blood count; automated differential WBC count 
 

85007 

Blood smear, microscopic examination with manual differential WBC count 
 

85014 

Hematocrit (Hct) 
 

85018 

Hemoglobin (Hgb) 
 

85025 

Complete (CBC), automated (Hgb, Hct, RBC, WBC and platelet count) and automated differential WBC count 
 

85027 

Complete (CBC), automated (Hgb, Hct, RBC, WBC and platelet count) 
 

85041 

Blood count; red blood cell (RBC), automated 
 

86480 

Tuberculosis test, cell mediated immunity antigen response measurement; gamma interferon
 

86481 

enumeration of gamma interferon-hyphenproducing T-hyphencells in cell suspension 
 

86592 

Syphilis test, non-treponemal antibody; qualitative (eg, VDRL, RPR, ART) 
 

86593 

Syphilis test, non-treponemal antibody; quantitative 
 

86631 

Antibody; Chlamydia 
 

86632 

Antibody; Chlamydia, IgM 
 

86701 

Antibody, HIV-1 
 

86702 

Antibody, HIV-2 
 

86703 

Antibody, HIV-1 and HIV-2, single result 
 

86804 

Hepatitis C antibody; confirmatory test (eg, immunoblot) 
 

86780 

Antibody; Treponema pallidum 
 

86787 

Antibody; varicella-zoster 
 

86794 (effective 1/1/2018) 

Antibody; Zika virus, IgM 
 

86803 

Hepatitis C antibody 

 

86850 

Antibody screen, RBC, each serum technique 
 

86900

Blood typing; ABO
 

86901

Blood typing; Rh (D)
 

87081

Culture, presumptive, pathogenic organisms, screening only (use for Group B strep)
 

87088 

Culture, bacterial, with isolation and presumptive identification of each isolate, urine 
 

87086

Routine Urine Culture
 

87270 

Infectious agent antigen detection by immunofluorescent technique; Chlamydia trachomatis 
 

87320 

Infectious agent antigen detection by immunoassay technique, (eg, enzyme immunoassay [EIA], enzyme-linked immunosorbent assay [ELISA], immunochemiluminometric assay [IMCA]) qualitative or semiquantitative, multiple-step method; Chlamydia trachomatis 
 

87490

Chlamydia trachomatis, direct probe technique
 

87491

Chlamydia trachomatis, amplified probe technique
 

87590 

Neisseria gonorrhea, direct probe technique 
 

87591 

Neisseria gonorrhea, amplified probe technique 
 

87592 

Neisseria gonorrhea, quantification 
 

87653 

Infectious agent detection by nucleic acid (DNA or RNA); Streptococcus, group B, amplified probe technique 
 

87662 (effective 1/1/2018) 

Infectious agent detection by nucleic acid (DNA or RNA); Zika virus, amplified probe technique 
 

87800 

Infectious agent detection by nucleic acid (DNA or RNA), multiple organisms; direct probe(s) technique 
 

87810 

Chlamydia trachomatis 
 

87850 

Neisseria gonorrhea 
 

82677 

Estriol 

  84999  Unlisted chemistry test 
HCPCS    G0306 

Complete CBC, automated (HgB, HCT, RBC, WBC, without platelet count) and automated WBC differential count 

 

G0307 

Complete (CBC), automated (HgB, HCT, RBC, WBC; without platelet count) 
 

G0432 

Infectious agent antibody detection by enzyme immunoassay (EIA) technique, HIV-1 and/or HIV-2, screening 
 

G0433 

Infectious agent antibody detection by enzyme-linked immunosorbent assay (ELISA) technique, HIV-1 and/or HIV-2, screening 
 

G0435 

Infectious agent antigen detection by rapid antibody test of oral mucosa transudate, HIV-1 or HIV-2, screening 
 

G0472 

Hepatitis C antibody screening, for individual at high risk and other covered indication(s) 
 

S3844 

DNA analysis of the connexin 26 gene (GJB2) for susceptibility to congenital, profound deafness 
 

S3845 

Genetic testing for alpha-thalassemia 
 

S3846 

Genetic testing for hemoglobin e beta-thalassemia 
 

S3849 

Genetic testing for niemann-pick disease 
 

S3850 

Genetic testing for sickle cell anemia 
 

S3652 

Saliva test, hormone level; to assess preterm labor risk 
ICD-10-CM            Z34.01, Z34.02, Z34.03, Z34.80, Z34.81, Z34.82, Z34.83, Z34.90, Z34.91, Z34.92, Z34.93, O09.00, O09.01, O09.02, O09.03, O09.10, O09.11, O09.12, O09.13,O09.211, O09.212, O09.213, O09.219, O09.291, O09.292, O09.293, O09.299,O09.30, O09.31, O09.32, O09.33, O09.40, O09.41, O09.42, O09.43, O09.511, O09.512, O09.513, O09.519, O09.521, O09.522, O09.523, 09.529,O09.611, O09.612, O09.613, O09.619, O09.621, O09.622, O09.623, O09.629,O09.70, O09.71, O09.72, O09.73, O09.811, O09.812, O09.813, O09.819,O09.821, O09.822, O09.823, O09.829, O09.891, O09.892, O09.893, O09.899, O09.90, O09.91, O09.92, O09.93 

Pregnancy

 
  Z11.7 (EFFECTIVE 10/01/19) Encounter for testing for latent tuberculosis infection 
  Z15.01 - Z15.04, Z15.09, Z15.81, Z15.89  Genetic susceptibility
  Z14.01, Z14.02, Z14.1, Z14.8  Genetic carrier status 
  Z13.71, Z13.79, Z13.89  Genetic screening 
  Z31.430, Z31.440, Z31.448  Genetic testing 
  Z87.798, Z83.2, Z81.0, Z84.81, Z78.2  Family history 
  Z01.83  Encounter for bloodtyping (Rh typing) 

Procedure and diagnosis codes on Medical Policy documents are included only as a general reference tool for each policy. They may not be all-inclusive. 

This medical policy was developed through consideration of peer-reviewed medical literature generally recognized by the relevant medical community, U.S. FDA approval status, nationally accepted standards of medical practice and accepted standards of medical practice in this community, Blue Cross and Blue Shield Association technology assessment program (TEC) and other non-affiliated technology evaluation centers, reference to federal regulations, other plan medical policies and accredited national guidelines.

"Current Procedural Terminology© American Medical Association.  All Rights Reserved" 

History From 2015 Forward     

09/24/2019 

Updated Coding. No other changes made. 

07/15/2019 

Correcting next annual review date. No other changes made. 

04/02/2019 

Annual review, adding statement: "Next generation sequencing (NGS) panel testing of either Ashkenazi Jewish-related disorders panel or panethnic carriers screening panel of 15 tests, as long as a single appropriate AMA genetic sequencing procedure test code is submitted." No other changes to policy intent. Updating coding. 

12/18/2018 

Updating with 2019 codes.  

07/26/2018 

Annual review, updating coding and expanding medical policy to provide coverage for Fetal RHD genotyping using maternal plasma. This was previously regarded as investigational. 

03/19/2018 

Update CPT codes with 86480 and 86481. No other changes. No change to policy intent. 

03/08/2018 

 Interim review, rewriting policy for clarity. Expanding verbiage related to blood typing and Rh antibody testing.

12/7/2017 

Updating policy with 2018 coding. No other changes. 

09/13/2017 

Interim review, removing criteria related to SMA screening requiring a family history. SMA screening is now considered medically necessary for all pregnant women and those seeking pre-conception care. No other changes made. 

08/14/2017 

Corrected formatting issues. No other changes made. 

08/03/2017 

Annual review, including language regarding thyroid testing and Zika testing, which is also addressed in other policies. No other changes made. 

04/25/2017 

Updated category to Laboratory. No other changes 

01/03/2017 

Annual review, no change to policy intent. Updated with 2017 CPT Codes. 

05/23/2016

Interim review, adding CPT 80081.

12/21/2015

NEW POLICY


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