Prenatal Screening AHS – G2035

Description of Procedure or Service

Prenatal screening refers to testing done to determine health status of both mother and baby, and include testing to determine risk of fetal abnormalities including genetic and developmental abnormalities.

Prenatal screening is a part of overall prenatal care to promote optimal care of both mother and baby. Prenatal screening allows for assessment and monitoring of the fetus for the presence of congenital defects or disease. Various professional medical organizations provide guidelines for prenatal screening. Laboratory tests for screening falls into the following categories: routine, atrisk women, and evaluation for inherited disorders (Lockwood and Magriples, 2017).

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

***Note: This Medical Policy is complex and technical. For questions concerning the technical language and/or specific clinical indications for its use, please consult your physician.

Policy

BCBSNC will provide coverage for prenatal screening when it is determined to be medically necessary because the medical criteria and guidelines shown below are met.

Benefits Application

This medical policy relates only to the services or supplies described herein. Please refer to the Member's Benefit Booklet for availability of benefits. Member's benefits may vary according to benefit design; therefore member benefit language should be reviewed before applying the terms of this medical policy.

When prenatal screening is covered

1. The following routine prenatal screening is considered medically necessary for all pregnant women: 
   1. Screening for HIV infection 
   2. Screening for Chlamydia trachomatis infection 
   3. Screening for N. gonorrhea infection 
   4. Screening for hepatitis B 
   5. Screening for syphilis 
   6. 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).
   7. Screening for bacteriuria 
   8. Screening for Fetalaneuploidy 
   9. Screening for type 2 diabetes at the first prenatal visit 
   10. Screening for gestational diabetes during gestational weeks 24 – 28 and at the first prenatal visit if risk factors are present
   11. 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
   12. Screening for anemia meets coverage criteria with a CBC or hemoglobin and hematocrit with mean corpuscular volume
   13. Screening for Group B strep once during gestational weeks 35 to 37 
   14. Urinalysis and urine culture 
   15. Rubella antibody testing 
   16. Testing for varicella immunity 
   17. 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: 
   1. Sexually active young individuals under 25 years, 
   2. New or multiple sexual partners, 
   3. 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),
   4. Current sex workers, 
   5. 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: 
   1. Carrier testing for cysticfibrosis is in accordance with Avalon policies M2017- 20150616-Genetic Testing for Cystic Fibrosis
   2. 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 
   3. Carrier screening for Tay-Sachs disease in women of French-Canadian or Cajun heritage 
   4. 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). 
   5. Carrier screening for spinal muscular atrophy for all pregnant women and those seeking pre-conception care 
   6. Carrier screening for hemoglobinopathies in women of African, Southeast Asian, Mediterranean, Middle Eastern or West Indian descent 
   7. 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) 
   8. 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 AHS-G2148-Genetic Testing for Nonsyndromic HereditaryHearing Loss 
4. Carrier screening of the biological father is considered medically necessary when the mother is known or found to be a carrier of a recessively inherited disorder. Carrier testing limitations: 
   1. Repeat carrier screening for the same disorder does not meet coverage criteria. 
   2. Carrier screening should be limited to once per lifetime per disorder for which the individual is at risk. 
   3. 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 
   4. 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: 
   1. Singleton or twin gestations, 
   2. Intact membranes, 
   3. Cervical dilation <3 cm, and 
   4. Patient experiencing symptoms suggestive of preterm labor between 24 and less than 35 weeks' gestation.
6. Testing pregnant women for thyroid dysfunction is considered medically necessary if they have any of the following 
   1. Symptoms of thyroid disease 
   2. Personal history of thyroid disease 
   3. Personal history of other medical conditions associated with thyroid disease (e.g. diabetes mellitus, goiter, iodine deficiency) 
7. Screening for Zika virus testing is covered in accordance with Avalon Policy AHS–G2133- 20170602 Zika Virus Testing 
8. 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. 
9. Prenatal genetic testing of a fetus is considered medically necessary if high risk for genetic disorder and a family history is present

When prenatal screening is not covered

All other applications of the FFN assay are considered 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. 
• Serial monitoring of salivary estriol levels as a technique of risk assessment for preterm labor or delivery 
• Fetal RHD genotyping using maternal plasma is considered medically necessary 
• Pre-conceptional or prenatal genetic testing for inherited medical disorders that do not meet the above criteria. 

Policy Guidelines

Guidelines and Recommendations

American College of Obstetricians and Gynecologists (ACOG)

ACOG has a number of practice guidelines related to prenatal care and pre-conception and prenatal testing, and offer 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; urinalysis for glucose and protein; Chlamydia 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, N. gonorrhea, tuberculosis 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, Rh antibody test between 28 weeks and 29 weeks of pregnancy, and screening for Group B strep at 35 to 37 weeks gestation.

ACOG (2017) makes the following recommendations for carrier screening for genetic conditions:

• Information about genetic carrier screening should be provided to every pregnant woman. After counseling, a patient may decline any or all screening. 
• Carrier screening and counseling ideally should be performed before pregnancy. 
• If an individual is found to be a carrier for a specific condition, the individual’s reproductive partner should be offered testing in order to receive informed genetic counseling about potential reproductive outcomes. Concurrent screening of the patient and her partner is suggested if there are time constraints for decisions about prenatal diagnostic evaluation. 
• If both partners are found to be carriers of a genetic condition, genetic counseling should be offered. Prenatal diagnosis and advanced reproductive technologies to decrease the risk of an affected offspring should be discussed. 
• The cost of carrier screening for an individual condition may be higher than the cost of testing through commercially available expanded carrier screening panels. When selecting a carrier screening approach, the cost of each option to the patient and the health care system should be considered. 

ACOG’s recommendation for carrier screening (2017) for specific conditions include the following:

• Screening for spinal muscular atrophy should be offered to all women who are considering pregnancy or are currently pregnant. 
• In patients with a family history of spinal muscular atrophy, molecular testing reports of the affected individual and carrier testing of the related parent should be reviewed, if possible, before testing. If the reports are not available, SMN1 deletion testing should be recommended for the low-risk partner. 
• Cystic fibrosis carrier screening should be offered to all women of reproductive age, regardless of ethnicity. 
• A complete blood count with red blood cell indices should be performed in all women who are currently pregnant to assess not only their risk of anemia but also to allow assessment for risk of a hemoglobinopathy. Ideally, this testing also should be offered to women before pregnancy. 
• A hemoglobin electrophoresis should be performed in addition to a complete blood count if there is suspicion of hemoglobinopathy based on ethnicity (African, Mediterranean, Middle Eastern, Southeast Asian, or West Indian descent). If red blood cell indices indicate a low mean corpuscular hemoglobin or mean corpuscular volume, hemoglobin electrophoresis also should be performed. 
• Fragile X premutation carrier screening is recommended for women with a family history of fragile X-related disorders or intellectual disability suggestive of fragile X syndrome and who are considering pregnancy or are currently pregnant.
• If a woman has unexplained ovarian insufficiency or failure or an elevated folliclestimulating hormone level before age 40 years, fragile X carrier screening is recommended to determine whether she has an FMR1 premutation. 
• Screening for Tay–Sachs disease should be offered when considering pregnancy or during pregnancy if either member of a couple is of Ashkenazi Jewish, French– Canadian, or Cajun descent. Those with a family history consistent with Tay–Sachs disease also should be offered screening. In addition, carrier screening for cystic fibrosis, Canavan disease, and familial dysautonomia be offered to all Ashkenazi Jews who are pregnant or considering pregnancy. 
• When only one partner is of Ashkenazi Jewish descent, that individual should be offered screening first. If it is determined that this individual is a carrier, the other partner should be offered screening. However, the couple should be informed that the carrier frequency and the detection rate in non-Jewish individuals are unknown for most of these disorders, except for Tay–Sachs disease and cystic fibrosis. Therefore, it is difficult to accurately predict the couple’s risk of having a child with the disorder. 

Regarding expanded carrier screening panels, ACOG recommends that “the disorders selected for inclusion should meet several of the following consensus-determined criteria: have a carrier frequency of 1 in 100 or greater, have a well-defined phenotype, have a detrimental effect on quality of life, cause cognitive or physical impairment, require surgical or medical intervention, or have an onset early in life.” ACOG further states that “screened conditions should be able to be diagnosed prenatally and may afford opportunities for antenatal intervention to improve perinatal outcomes, changes to delivery management to optimize newborn and infant outcomes, and education of the parents about special care needs after birth.”

In September 2015, American College of Obstetricians and Gynecologist (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) released an updated committee opinion on noninvasive testing for fetal aneuploidy. It states that “although any patient may choose cell-free DNA analysis as a screening strategy for common aneuploidies, regardless of her risk status, the patient choosing this testing should understand the limitations and benefits of this screening paradigm in the context of alternative screening and diagnostic options.”

ACOG Committee Opinion on subclinical hypothyroidism in pregnancy does not recommend routine screening for subclinical hypothyroidism. It states that “thyroid testing in pregnancy should be performed on symptomatic women and those with a personal history of thyroid disease or other medical conditions associated with thyroid disease (e.g., diabetes mellitus)”.

ACOG Practice Bulletin of October 2001 (reaffirmed 2008) reached the following recommendations regarding Fetal Fibronectin (FFN) testing:

• FFN or ultrasonography to determine cervical length may be useful in determining women at high risk for preterm labor. However, their clinical usefulness may rest primarily with their negative predictive value, given the lack of proven treatment options to prevent preterm birth. 
• FFN testing may be useful in women with symptoms of preterm labor to identify those with negative values and a reduced risk of preterm birth, thereby avoiding unnecessary intervention.

In April 2017, ACOG updated the practice advisory on Zika virus testing. The advisory recommends that “pregnant women who have potentially been exposed to Zika virus (i.e., via travel or sexual contact) should be tested, regardless of whether or not they also present with one or more of the Zika signs or symptoms.” 

United States Preventive Services Task Force (USPSTF)

The United States Preventive Services Task Force (2017) recommends the following testing for pregnant women:

• Screening for hepatitis B virus (HBV) infection at the first prenatal visit
• Screening for asymptomatic bacteriuria with urine culture at 12 to 16 weeks' gestation or at the first prenatal visit if later 
• Screening for gestational diabetes mellitus after 24 weeks of gestation
• Screening for HIV, including those women who present in labor who are untested and whose HIV status is unknown 
• Rh (D) blood typing and antibody testing during the first prenatal visit
• 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
• Screening for syphilis infection 

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

• Screening for chlamydia in sexually active women aged 24 years or younger and in older women who are at increased risk for infection
• Screening for gonorrhea in sexually active women aged 24 years or younger and in older women who are at increased risk for infection
• 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: 

• Screening for bacterial vaginosis in asymptomatic women 
• Serological screening for herpes simplex virus (HSV) in asymptomatic pregnant women 
• Screening for elevated blood lead levels in asymptomatic pregnant women 
• Screening of pregnant women for illicit drug use. 
• The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of screening for iron deficiency anemia in pregnant women to prevent adverse maternal health and birth outcomes. 

American Diabetes Association

The American Diabetes Association recommends screening of asymptomatic pregnant women for type 2 diabetes during the first prenatal visit and testing for gestational diabetes in pregnant women without known prior diabetes during weeks 24 – 28.  

Centers for Disease Control and Prevention (CDC)

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

• HIV screening for all pregnant women. 
• Repeat HIV screening in the third trimester in areas with elevated rates of HIV infection among pregnant women 
• Screening of all pregnant women for HBsAg during each pregnancy regardless of prior testing 
• Testing of all pregnant women for syphilis during the first prenatal visit
• For communities and populations in which the prevalence of syphilis is high and for women at high risk for infection, serologic testing should also be performed twice during the third trimester: once at 28–32 weeks’ gestation and again at delivery. 
• Chlamydia trachomatis screening at the first prenatal visit and repeat testing during the third trimester for women under 25 years or at high risk for acquisition 
• N. gonorrhea testing of all pregnant women under 25 years of age and older 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 and pregnant women born between 1945 – 1965 
• Zika virus testing for pregnant women who have potentially been exposed to Zika virus (i.e., via travel, residence or sexual contact) regardless of whether they present with Zika signs or symptoms 

The CDC does not recommend testing of asymptomatic pregnant women for bacterial vaginosis or routine HSV-2 serologic screening among asymptomatic pregnant women.

American College of Medical Genetics and Genomics (ACMG)

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

• Fetal aneuploidy screening by serum biochemical markers or chromosome analysis of chorionic villus or amniotic fluid for average-risk and high-risk pregnancies 
• Inform all pregnant women that non-invasive prenatal screening (NIPS) is the most sensitive screening option for traditionally screened aneuploidies (i.e., Patau, Edwards, and Down syndromes). Offer diagnostic testing when a positive screening test result is reported after NIPS. ACMG does not recommend NIPS to screen for autosomal aneuploidies other than those involving chromosomes 13, 18, and 21.
• Cystic fibrosis carrier screening for all pregnant women and those considering pregnancy 
• Carrier screening for spinal muscular atrophy for all pregnant women and those seeking pre-conception care 
• Carrier screening for Canavan disease, familial dysautonomia, Tay-Sachs, cystic fibrosis, Fanconi anemia (Group C), Niemann-Pick (Type A), Bloom syndrome, mucolipidosisIV, and Gaucher disease for all Ashkenazi Jewish women who are pregnant or considering pregnancy
• 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 
• Carrier screening for other disorders for which there is a family history and for which there is a reliable test. 

In 2014, the American College of Medical Genetics and Genomics issued the following guidelines for the clinical evaluation and diagnosis of hearing loss. For individuals lacking physical findings suggestive of a known syndrome and having medical and birth histories that do not suggest an environmental cause of hearing loss, ACMG recommends that a tiered diagnostic approach should be implemented.

• “Single-gene testing may be warranted in cases in which the medical or family history, or presentation of the hearing loss, suggests a specific etiology.” 
• “In the absence of any specific clinical indications and for singleton cases and cases with apparent autosomal recessive inheritance, the next step should be testing for DFNB1-related hearing loss (due to mutations in GJB2 and adjacent deletions in GJB6).” 
• “If initial genetic testing is negative, genetic testing using gene panel tests, NGS technologies such as large sequencing panels targeted toward hearing loss–related genes, WES, or WGS may be considered.”

The HRSA-supported Women’s Preventive Services Initiative (2017) recommends the following:

• Screening pregnant women for gestational diabetes mellitus after 24 weeks of gestation (preferably between 24 and 28 weeks of gestation)

Women with risk factors for diabetes mellitus be screened for preexisting diabetes before 24 weeks of gestation—ideally at the first prenatal visit

Billing/Coding/Physician Documentation Information

This policy may apply to the following codes. Inclusion of a code in this section does not guarantee that it will be reimbursed. For further information on reimbursement guidelines, please see Administrative Policies on the Blue Cross Blue Shield of North Carolina web site at www.bcbsnc.com. They are listed in the Category Search on the Medical Policy search page.  

Scientific Background and Reference Sources

American College of Obstetricians and Gynecologists (2017). Committee Opinion.

ACOG Committee Opinion. Cell-Free DNA Screening for Fetal Aneuploidy. Number 640, September 2015. Retrieved April 4, 2017

ACOG and SMFM (2017). Practice Advisory on Zika Virus. Retrieved April 4, 2017

ACOG Committee Opinion. Carrier Screening in the Age of Genomic Medicine. Number 690, September 2015. Retrieved April 4, 2017

ACOG Practice Bulletin (2001). Assessment of risk factors for preterm birth. Clinical management guidelines for obstetrician-gynecologists. Number 31. Obstet Gynecol 98(4):709-16. (Reaffirmed 2008)

America Diabetes Association. Standards of Medical Care in Diabetes 2013. Diabetes Care, vol. 36, Supplement 1, January, 2013. Pp. S11-66.

American College of Medical Genetics and Genomics (2014). American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genetics in medicine, 16(4), 347-355.

American College of Medical Genetics and Genomics (2014). Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genetics in Medicine, 18(10):1056-65.

American College of Medical Genetics and Genomics (2008). Carrier screening in individuals of Ashkenazi Jewish descent. Genetics in Medicine, 10(1):54 –56.

American College of Medical Genetics and Genomics (2009). Screening for fetal aneuploidy and neural tube defects. Genetics in Medicine, 11(11): 818 – 821.

Centers for Disease Control and Prevention (2017). Zika Virus. Retrieved online on April 4, 2017

Centers for Disease Control and Prevention (2017). 2015 Sexually Transmitted Diseases Treatment Guidelines. Retrieved April 4, 2017

Health Resources and Services Administration. (2017). Women’s preventive services guidelines. Retrieved November 22, 2017

Lockwood, C., and Magriples, U. (2017). Initial prenatal assessment and first-trimester prenatal care. Retrieved March 16, 2017

United States Preventive Services Task Force. (2017). USPSTF A and B recommendations. Retrieved November 22, 2017,

Policy Implementation/Update Information

1/1/19 New policy developed. BCBSNC will provide coverage for prenatal screening when it is determined to be medically necessary because the medical criteria and guidelines are met. Medical Director review 1/1/2019. Policy noticed 1/1/2019 for effective date 4/1/2019. (an)