Commercial
Advanced Search

First-Trimester Prenatal Screening for Fetal Aneuploidy Using Fetal Ultrasound Markers
09.00.36m

Policy

MEDICALLY NECESSARY

First-trimester screening for fetal aneuploidy, including Down syndrome, is considered medically necessary and, therefore, covered when ALL of the following measurements are performed:
  • Fetal nuchal translucency
  • One form of beta subunit of human chorionic gonadotropin (e.g., free b-hCG, total b-hCG, or invasive trophoblast antigen [ITA])
  • Pregnancy-associated plasma protein-A (PAPP-A)
The use of first-trimester nuchal translucency measurements alone as a screening tool for fetal aneuploidy in multiple pregnancies is considered medically necessary and, therefore, covered.

In geographic areas with a capitated radiology program, fetal ultrasound to measure fetal nuchal translucency is excluded from capitation and should only be conducted by ultrasonographers who are certified to perform ultrasounds for this purpose.

NOT MEDICALLY NECESSARY

The use of first-trimester nuchal translucency measurements in individuals with negative cell-free deoxyribonucleic acid (DNA​) screening is considered not medically necessary as a screening tool for fetal aneuploidy, and, therefore, not covered because the available published peer-reviewed literature does not support its use in the diagnosis of illness or injury.

EXPERIMENTAL/INVESTIGATIONAL

The use of first-trimester nuchal translucency measurements alone as a screening tool for fetal aneuploidy in singleton pregnancies is considered experimental/investigational and, therefore, not covered because the safety and/or effectiveness of this service cannot be established by review of the available published peer-reviewed literature.

The assessment/measurement of fetal nasal bone by sonography as a first-trimester screening tool for fetal aneuploidy is considered experimental/investigational and, therefore, not covered because the safety and/or effectiveness of this service cannot be established by review of the available published peer-reviewed literature.

The use of time-resolved fluorescence immunoassay from maternal dried-blood spot or maternal serum sample, with or without qualitative assessment of Y chromosome, as a screening tool for fetal aneuploidy in singleton pregnancies is considered experimental/investigational and, therefore, not covered because the safety and/or effectiveness of this service cannot be established by review of the available published peer-reviewed literature.

REQUIRED DOCUMENTATION

The individual's medical record must reflect the medical necessity for the care provided. These medical records may include, but are not limited to, the following: records from the professional provider's office, hospital, nursing home, home health agencies, therapies, and test reports.

The Company may conduct reviews and audits of services to our members, regardless of the participation status of the provider. All documentation is to be available to the Company upon request. Failure to produce the requested information may result in a denial for the service.

Guidelines

Ultrasound assessment of fetal nuchal translucency should only be conducted by ultrasonographers who are certified to perform ultrasounds for this purpose.

Although free beta subunit of human chorionic gonadotropin (b-hCG) has been studied more than other forms of b-hCG and performs better as an individual marker in pregnancies affected by Down syndrome, there is support for the efficacy of free b-hCG, total b-hCG, and invasive trophoblast antigen (ITA) when performed in combination with ​nuchal translucency​ (NT) and pregnancy-associated plasma protein-A (PAPP-A)​.

BENEFIT APPLICATION

Subject to the terms and conditions of the applicable benefit contract, first-trimester fetal nuchal translucency in conjunction with maternal serum assessment is covered under the medical benefits of the Company’s products when the medical necessity criteria listed in the medical policy are met.

Subject to the terms and conditions of the applicable benefit contract, first-trimester nuchal translucency measurements in individuals with negative cell-free deoxyribonucleic acid (DNA)​ screening are not eligible for payment under the medical benefits of the Company’s products because the service is considered not medically necessary and, therefore, not covered.

Subject to the terms and conditions of the applicable benefit contract, first-trimester nuchal translucency measurement alone as a screening tool for fetal aneuploidy in singleton pregnancies is not eligible for payment under the medical benefits of the Company’s products because the service is considered experimental/investigational and, therefore, not covered. Services that are experimental/investigational are a benefit contract exclusion for all products of the Company. Therefore, they are not eligible for reimbursement consideration.

Subject to the terms and conditions of the applicable benefit contract, first-trimester fetal nasal bone assessment/measurement by sonography as a screening tool for fetal aneuploidy is not eligible for payment under the medical benefits of the Company’s products because the service is considered experimental/investigational and, therefore, not covered. Services that are experimental/investigational are a benefit contract exclusion for all products of the Company. Therefore, they are not eligible for reimbursement consideration.

Subject to the terms and conditions of the applicable benefit contract, first-trimester time-resolved fluorescence immunoassay from maternal dried-blood spot or maternal serum sample, with or without qualitative assessment of Y-chromosome, as a screening tool for fetal aneuploidy is not eligible for payment under the medical benefits of the Company’s products because the service is considered experimental/investigational and, therefore, not covered. Services that are experimental/investigational are a benefit contract exclusion for all products of the Company. Therefore, they are not eligible for reimbursement consideration.

Description

Aneuploidy is an abnormality in the number of chromosomes. Among live births, Down syndrome is the most common chromosomal abnormality. Fetal nuchal translucency refers to the ultrasound detection of subcutaneous edema in the neck of the fetus. Measurement is taken at the maximal thickness of the sonolucent zone between the inner aspect of the fetal skin and the outer aspect of the soft tissue overlying the cervical spine or the occipital bone. In the early 1990s, screening studies of pregnant individuals reported an association between increased fetal nuchal translucency and an increased risk of chromosomal defects, most commonly Down syndrome and trisomy 18. At that time, it was standard of care to perform aneuploidy screening during the second trimester of pregnancy (16 weeks).

Fetal nuchal translucency, in combination with specific maternal serum markers and maternal age, is measured to detect Down syndrome in the first trimester of pregnancy (10-14 weeks). The methodology and analytic methods of published studies reflect that fetal nuchal translucency interpretation was standardized and incorporated into appropriate statistical models, which were then combined with maternal serum markers that have known associations with Down syndrome. If accurately done, first-trimester screening using fetal nuchal translucency and maternal serum assessment can provide vital information about the fetus well before the traditional second-trimester screening.

Amniocentesis and chorionic villus sampling (CVS) are the only established methods during pregnancy for the definitive diagnosis of aneuploidy, but they are invasive procedures that increase the risk of miscarriage. Before biochemical screening was developed, amniocentesis or CVS was generally only offered to individuals 35 years or older, for whom the risk of the procedure approximated the risk of Down syndrome. However, as the majority of children with Down syndrome are born to individuals younger than 35 years of age, less invasive screening methods were developed.

The commonly used second-trimester triple screening (i.e., alpha-fetoprotein [AFP], beta subunit of human chorionic gonadotropin [B-hCG], and unconjugated estriol [E3]) identifies approximately 70 percent of Down syndrome pregnancies at a false-positive rate of five percent. The false-positive rate refers to the proportion of all tests that are falsely positive (i.e., the screening test is positive but the abnormality is not present) at the cutoff that produces that particular value of sensitivity. Among individuals who test positive on the second-trimester triple screening, only about two percent actually have a fetus with Down syndrome. A fourth biochemical marker, inhibin-A, which has recently been added to the screening panel, may boost detection of Down syndrome to 80 percent at a false-positive rate of five percent.

First-trimester triple screening includes ultrasound measurement of nuchal translucency (NT), serum measurement of pregnancy-associated plasma protein-A (PAPP-A), and at least one form of beta-hCG (free b-hCG, total b-hCG, or invasive trophoblast antigen [ITA]). In a meta-analysis of studies related to first trimester Down syndrome screening, Evans et al (2007) suggested that free b-hCG outperforms intact hCG (synonymous with total b-hCG) in a multimarker protocol. Although free b-hCG has been studied more than other forms of b-hCG and performs better as an individual marker in pregnancies affected by Down syndrome, there is support for the efficacy of free b-hCG, total b-hCG, and ITA when performed in combination with NT and PAPP-A. First and Second Trimester Evaluation for Aneuploidy Risk (FASTER) trial and the BUN (Blood, Ultrasound and Nuchal Translucency) study group have presented findings that support the efficacy of free b-hCG in combined screening. However, there are data – including the Serum Urine and Ultrasound Screening Study (SURUSS) by Wald et al (2003) – which highlight an appreciable level of efficacy when total or intact b-hCG is used in combined screening with NT and PAPP-A during the first trimester. A number of small studies, including Palomaki et al. (2005), have proposed the role of ITA in the combined screening panel. Furthermore, The American College of Obstetricians and Gynecologists (ACOG), The American College of Medical Genetics (ACMG), and the guidelines from The National Institute for Clinical Excellence (NICE) either recommend or accept the role of beta-hCG, without making a distinction as to its forms, when this marker is combined with NT and PAPP-A in first-trimester screening. All of the studies that analyzed free b-hCG, intact b-hCG, and PAPP-A in the same sample set included in the meta-analysis by Evans and colleagues (2007) preceded the recommendations by ACOG, ACMG, and NICE. First-trimester triple screening has a detection rate for Down syndrome and other aneuploidies that is comparable to second-trimester quadruple screening (AFP, b-hCG, E3, and inhibin-A), with the advantage of providing information about the fetus earlier in the course of pregnancy.

First-trimester time-resolved fluorescence immunoassay from maternal dried-blood spot or maternal serum sample, with or without qualitative assessment of Y-chromosome, using a proprietary algorithm to determine risk scores for fetal trisomies 13/18, 21, and preeclampsia, such as those offered by NTD Eurofins Clinical Diagnostics, LLC, lack clinical validity and utility data for the assessment of safety and efficacy. These tests have not effectively demonstrated the added clinical value of performing first trimester screen with additional parameters, as there has been no comparison of this testing to standard screening practice. Available evidence is comprised of case-control studies, which claim that this testing paradigm yields improved performance of first-trimester screening when including the use of additional biochemical markers (AFP, placental growth factor [PlGF], and dimeric inhibin A [DIA]) to the standard protocol. Studies cited in an available peer-reviewed article (Carmichael et al., 2017) reporting improved diagnostic performance with additional serum markers in expanded first trimester screening also suffer experimental design issues (e.g., retrospective and case control designs, large variance in sizes of control groups). In order to assess the added clinical value of performing a first trimester screen with additional parameters, it would be best to see a direct comparison, as in a randomized controlled trial, of this proposed method with the traditional practice. Moreover, the proposed algorithm has not been validated externally. These methods use a lower risk cut-off than the conventional screening paradigm, which, although boosting sensitivity, makes the test less specific. As reported in the literature, this method calculated risk based upon an overall median multiple of median value for the trisomy 21 cases, instead of using a regression model to incorporate all factors, because most cases were at 12 weeks gestation.

Cell-free DNA (cfDNA) testing can also be done to screen for a variety of fetal conditions by evaluating short segments of fetal DNA in maternal blood. The current ACOG and Society for Maternal-Fetal Medicine (SMFM) Guidance states that nuchal translucency measurement for aneuploidy risk is not necessary at the time of cfDNA screening in the first trimester. Furthermore, individuals who have a negative screening test result should not be offered additional screening tests for aneuploidy because this will increase their potential for a false-positive test result (Level A).

In multifetal gestations, the risk of fetal aneuploidy is affected by the number of fetuses and the zygosity of the pregnancy; however, data regarding the risk of aneuploidy are more limited in multiple gestations compared with singleton pregnancies. In dizygous twin pregnancies, each fetus carries a risk of aneuploidy generally similar to the pregnant individual’s age-adjusted risk, but the pregnant individual​ carries an increased risk of having a fetus with aneuploidy because there is more than one fetus. Typically, monozygous twins will have the same karyotype, with neither or both fetuses being affected; the risk of carrying aneuploid fetuses is similar to the pregnant individual’s age-adjusted risk. No method of aneuploidy screening is as accurate in twin gestations as it is in singleton pregnancies. Nuchal translucency measurement allows each fetus in a multifetal pregnancy to be screened independently and, therefore, can be used in twin or high-order multifetal gestations.

If a definitive diagnosis is desired after a positive screening, CVS can then be performed.

Fetal nasal bone examination by ultrasound has been proposed as another potential first-trimester marker for Down syndrome. A first-trimester ultrasound done between 11 and 14 weeks that determines the absence of fetal nasal bone is considered a positive test result, indicating an increased risk of Down syndrome. Although studies have found a high rate of successful imaging of fetal nasal bone and an association between absent nasal bone and the presence of Down syndrome in high-risk populations, there is insufficient evidence on the performance of fetal nasal bone assessment in average-risk populations. Also, it has been reported that the difficulty in performing first-trimester nasal bone sonography consistently in the general population may limit its usefulness as a screening technique.

Small differences in fetal nuchal translucency measurements can significantly impact the accuracy of risk prediction of Down syndrome and other aneuploidies in the fetus. Therefore, ultrasonographer training and ongoing quality assurance are essential to maintain the integrity of this screening method.

References

Adiego B, Martinez-Ten P, Illescas T, et al. First-trimester assessment of nasal bone using retronasal triangle view: a prospective study. Ultrasound Obstet Gynecol. 2014;43(3):272-276.

Alldred SK, Takwoingi Y, Guo B, et al. First and second trimester serum tests with and without first trimester ultrasound tests for Down's syndrome screening. Cochrane Database Syst Rev. 2017;Mar 15(3):CD012599.

Alldred SK, Takwoingi Y, Guo B, et al. First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening. Cochrane Database Syst Rev. 2017;Mar 15(3):CD012600.

American College of Obstetricians and Gynecologists (ACOG). ACOG Practice Bulletin #162: Prenatal diagnostic testing for genetic disorders. Obstet Gynecol. 2016;127(5):e108-e121.

American College of Obstetricians and Gynecologists (ACOG). ACOG Obstetric Care Consensus #11: Pregnancy at age 35 years or older. Obstet Gynecol. 2022;140(2):348-366(reaffirmed 2025).

American College of Obstetricians and Gynecologists (ACOG). ACOG Practice Advisory: Screening for fetal chromosomal abnormalities. [ACOG Web site]. 01/2026. Available at: 
https://www.acog.org/clinical/clinical-guidance/practice-advisory/articles/2026/01/screening-for-fetal-chromosomal-abnormalities. Accessed May 26, 2026.

Audibert F, Gagnon A; Genetics Committee of the Society of Obstetricians and Gynaecologists of Canada; Prenatal Diagnosis Committee of the Canadian College of Medical Geneticists. Prenatal screening for and diagnosis of aneuploidy in twin pregnancies. J Obstet Gynaecol Can. 2011;33(7):754-767.

Baer RJ, Flessel MC, Jelliffe-Pawlowski LL, et al. Detection rates for aneuploidy by first-trimester and sequential screening. Obstet Gynecol. 2015;126(4):753-759.

Berktold L, von Kaisenberg CS, Hillemanns P, et al. Analysis of the impact of PAPP-A, free beta-hCG and nuchal translucency thickness on the advanced first trimester screening. Arch Gynecol Obstet. 2013;287(3):413-420.

Brameld KJ, Dickinson JE, O'Leary P, et al. First trimester predictors of adverse pregnancy outcomes. Aust N Z J Obstet Gynecol. 2008;48(6):529-535.

Carmichael JB, Liu HP, Janik D, et al. Expanded conventional first trimester screening. Prenat Diagn. 2017;37(8):802-807.

Caughey AB. Sonographic findings associated with fetal aneuploidy. Up to Date. [UpToDate Web site]. 06/10/2025. Available at: https://www.uptodate.com/contents/sonographic-findings-associated-with-fetal-
9429e4db-8d84-418e-9e02-7cb538c96df3&searchCorrelationTerm=Sonographic findings associated with fetal aneuploidy. [via subscription only]. Accessed May 26, 2026.

Chanprapaph P, Dulyakasem C, Phattanchindakun B. Sensitivity of multiple first trimester sonomarkers in fetal aneuploidy detection. J Perinat Med. 2015;43(3):359-365.

Chitayat D, Langlois S, Wilson RD; Genetics Committee of the Society of Obstetricians and Gynaecologists of Canada; Prenatal Diagnosis Commit​​tee of the Canadian College of Medical Geneticists. Prenatal screening for fetal aneuploidy in singleton pregnancies. J Obstet Gynaecol Can. 2011;33(7):736-750.

Cicero S, Avgidou K, Rembouskos G, et al. Nasal bone in first-trimester screening for trisomy 21. Am J Obstet Gynecol. 2006;195(1):109-114.

Comstock CH, Malone FD, Ball RH, et al. Is there a nuchal translucency millimeter measurement above which there is no added benefit from first trimester serum screening? Am J Obstet Gynecol. 2006;195(3):843-847.

Cuckle HS, Malone FD, Wright D, et al. Contingent screening for Down syndrome—results from the FASTER trial. Prenat Diagn. 2008;28(2):89-94.

Driscoll DA, Gross SJ, Professional Practice Guidelines Committee. Screening for fetal aneuploidy and neural tube defects. Genet Med. 2009;11(11):818-821.

Evans MI, Krantz DA, Hallahan TW, Galen RS. Meta-analysis of first trimester Down syndrome screening studies: free beta-human chorionic gonadotropin significantly outperforms intact human chorionic gonadotropin in a multimarker protocol. Am J Obstet Gynecol. 2007;196(3):198-205.

Fetal Medicine Foundation. Accreditation in the 11-13+6 week scan. Nuchal translucency measurement accreditation. Available at: https://www.fetalmedicineusa.com/accreditation.php. Accessed May 26, 2026.

Glanc P, Nyberg DA, Khati NJ, et al., Expert Panel on Women's Imaging. ACR Appropriateness Criteria® Multiple Gestations. J Am Coll Radiol. 2017;14(11S):S476-S489.

Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Generics and Genomics. Genet Med. 2016;18(10):1056-1065.

Haddow JE, Palomaki GE, Knight GJ, et al. Screening of maternal serum for fetal Down's syndrome in the first trimester. N Engl J Med. 1998;338(14):955-961.

Has R, Kalelioglu I, Yuksel A, et al. Fetal nasal bone assessment in first trimester Down syndrome screening. Fetal Diagn Ther. 2008;24(1):61-66.

Hsiao CH, Cheng PJ, Shaw SW, et al. Extended first-trimester screening using multiple sonographic markers and maternal serum biochemistry: a five-year prospective study. Fetal Diagn Ther. 2014;35(4):296-301.

Johnson J, Pastuck M, Metcalfe A, et al. First-trimester Down syndrome screening using additional serum markers with and without nuchal translucency and cell-free DNA. Prenat Diagn. 2013;33(11):1044-1049.

Kagan KO, Etchegaray A, Zhou Y, et al. Prospective validation of first-trimester combined screening for trisomy 21. Ultrasound Obstet Gynecol. 2009;34(1):14-18.

Kagan KO, Sroka F, Sonek J, et al. First-trimester risk assessment based on ultrasound and cell-free DNA vs. combined screening: a randomized controlled study. Ultrasound Obstet Gynecol. 2018;51(4):437-444.

Kagan KO, Staboulidou I, Cruz J, et al. Two-stage first-trimester screening for trisomy 21 by ultrasound assessment and biochemical testing. Ultrasound Obstet Gynecol. 2010;36(5):542-547.

Kagan KO, Wright D, Etchegaray A, et al. Effect of deviation of nuchal translucency measurements on the performance of screening for trisomy 21. Ultrasound Obstet Gynecol. 2009;33(6):657-664.

Leung TY, Chan LW, Leung TN, et al. First-trimester combined screening for trisomy 21 in a predominantly Chinese population. Ultrasound Obstet Gynecol. 2007;29(1):14-17.

Malone FD, Ball RH, Nyberg DA, et al.; FASTER Research Consortium. First-trimester nasal bone evaluation for aneuploidy in the general population. Obstet Gynecol. 2004;104(6):1222-1228.

Malone FD, Canick JA, Ball RH, et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med. 2005;353(19):2001-2011.

McLennan A, Schluter PJ, Pincham V, Hyett J. First-trimester fetal nasal bone audit: evaluation of a novel method of image assessment. Ultrasound Obstet Gynecol. 2009;34(6):623-628.

Messerlian GM, Palomaki GE. Maternal serum multiple marker screening for Down syndrome: levels and laboratory issues. Up to Date. [UpToDate Web site]. 02/14/2025. Available at: 
Maternal serum marker screening for Down syndrome: levels and laboratory issues. [via subscription only]. Accessed May 26, 2026.

Messerlian GM, Farina A, Palomaki GE. First-trimester combined test and integrated tests for screening for Down syndrome and trisomy 18. Up to Date.[UpToDate Web site]. 03/28/2024. Available at: 
4828-a7f6-773c310a5746&searchCorrelationTerm=Down syndrome: overview of prenatal screening. [via subscription only]. Accessed May 26, 2026.

Miron P, Cote YP, Lambert J. Nuchal translucency thresholds in prenatal screening for Down syndrome and trisomy 18.  J Obstet Gynaecol Can. 2009;31(3):227-235.

Mol BW, Lijmer JG, van der Meulen J, et al. Effect of study design on the association between nuchal translucency measurement and Down syndrome. Obstet Gynecol. 1999;94(5 Pt 2):864-869.

Nanni M, Maroni E, Bevini M, et al. The usefulness of volume NT software in measuring the fetal nasal bone at 11 to 13 + 6 weeks of gestation. Prenat Diagn. 2014;34(5):500-504.

National Collaborating Centre for Women’s and Children’s Health. Antenatal care: routine care for the healthy pregnant woman. March 2008 (updated 01/2019). Available at: https://www.ncbi.nlm.nih.gov/books/NBK51886/pdf/Bookshelf_NBK51886.pdf. Accessed May 26, 2026.

National Institute for Clinical Excellence (NICE). NICE guideline 201: antenatal care. August 19, 2021. Available at: https://www.nice.org.uk/guidance/ng201/resources/antenatal-care-pdf-66143709695941. Accessed May 26, 2026.

Nicolaides KH, Wright D, Poon LC, et al. First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol. 2013;42(1):41–50.

Palomaki GE, Eklund EE, Neveux LM, Lambert Messerlian GM. Evaluating first trimester maternal serum screening combinations for Down syndrome suitable for use with reflexive secondary screening via sequencing of cell free DNA: high detection with low rates of invasive procedures. Prenat Diagn. 2015;35(8):789–796.

Palomaki GE, Knight GJ, Neveux LM, et al. Maternal serum invasive trophoblast antigen and first-trimester Down syndrome screening. Clin Chem. 2005;51(8):1499-1504.

Palomaki GE, Lee JE, Canick JA, et al.; American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee. Technical standards and guidelines: prenatal screening for Down syndrome that includes first-trimester biochemistry and/or ultrasound measurements. Genet Med. 2009;11(9):669-681.

Palomaki GE, Halliday JV, Russo ML. Prenatal screening for common fetal aneuploidies: cell-free DNA test. Up to Date. [UpToDate Web site]. 09/15/2025. Available at: https://www.uptodate.com/contents/prenatal-screening-for-common-fetal-aneuploidies-cell-free-dna-test?search=Prenatal screening for common fetal aneuploidies: cell-free DNA test&source=search_result&selectedTitle=1~150&usage_type=default&display_rank=1&searchCorrelationId=30ef0b9c-e1f9-40b0-b580-cd43d64fdb34&searchCorrelationTerm=Prenatal screening for common fetal aneuploidies: cell-free DNA test. [via subscription only]. Accessed May 26, 2026.

Pandian R, Cole LA, Palomaki GE. Second-trimester maternal serum invasive trophoblast antigen: a marker for Down syndrome screening. Clin Chem. 2004;50(8):1433-1435.

Peuhkurinen S, Laitinen P, Honkasalo T, et al. Comparison of combined, biochemical and nuchal translucency screening for Down's syndrome in first trimester in Northern Finland. Acta Obstet Gynecol Scand. 2013;92(7):769-774.

Platt LD, Greene N, Johnson A, et al.; First Trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) Study Group. Sequential pathways of testing after first-trimester screening for trisomy 21. Obstet Gynecol. 2004;104(4):661-666.

Prefumo F, Sairam S, Bhide A, et al. First-trimester nuchal translucency, nasal bones, and trisomy 21 in selected and unselected populations. Am J Obstet Gynecol. 2006;194(3):828-833.

Ranta JK, Marttala J, Laitinen P, et al. First trimester biochemistry at different maternal ages. Clin Chem Lab Med. 2011;50(3):549-555.

Rosen T, D'Alton ME, Platt LD, et al.; Maternal Fetal Medicine Foundation Nuchal Translucency Oversight Committee. First trimester ultrasound assessment of the nasal bone to screen for aneuploidy. Obstet Gynecol. 2007;110(2 pt 1):399-404.

Sahota DS, Leung TY, Chan LW, et al. Comparison of first trimester contingent screening strategies for Down syndrome. Ultrasound Obstet Gynecol. 2010;35(3):286-291.

Schaelike M, Kossakiewicz M, Kossakiewicz A, Schild RL. Examination of a first-trimester Down syndrome screening concept on a mix of 11,207 high- and low-risk patients at a private center for prenatal medicine in Germany. Eur J Obstet Gynecol Reprod Biol. 2009;144(2):140-145.

Schmidt P, Staboulidou I, Elsasser M, et al. How imprecise may the measurement of fetal nuchal translucency be without worsening first-trimester screening? Fetal Diagn Ther. 2008;24(3):291-295.

Scott F, Evans J, McLennan A. Perinatal outcome in fetuses with extremely large nuchal translucency measurement. Aust N Z J Obstet Gynaecol. 2009;49(3):254-257.

Snijders RJM, Thom EA, Zachary JM, et al. First-trimester trisomy screening: nuchal translucency measurement training and quality assurance to correct and unify technique. Ultrasound Obstet Gynecol. 2002;19(4):353-359.

Society for Maternal-Fetal Medicine (SMFM). The role of ultrasound in women who undergo cell-free DNA screening. Am J Obstet Gynecol. 2017;216(3):B2-B7.

Sonek JD, Cicero S, Neiger R, Nicolaides KH. Nasal bone assessment in prenatal screening for trisomy 21. Am J Obstet Gynecol. 2006;195(5):1219-1230.

Spencer K. What is the true fetal loss rate in pregnancies affected by trisomy 21 and how does this influence whether first trimester detection rates are superior to those in the second trimester? Prenat Diagn. 2001;21(9):788-789.

Summers AM, Langlois S, Wyatt P, Wilson RD; members of the SOGC Genetics Committee; members of the CCMG Committee on Prenatal Diagnosis; members of the SOGC Diagnostic Imaging Committee. Prenatal screening for aneuploidy. J Obstet Gynaecol Can. 2007;29(2):146-161.

Torella M, Tormettino B, Zurzolo V, et al. Screening for trisomy 21 by maternal age fetal nuchal translucency thickness and maternal serum sample. Minerva Ginecol. 2013;65(6):653-659.

Wald NJ, Huttly WJ, Murphy KW, et al. Antenatal screening for Down's syndrome using the integrated test at two London hospitals. J Med Screen. 2009;16(1):7-10.

Wald NJ, Rodeck C, Hackshaw AK, et al. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). J Med Screen. 2003;10(2):56-104.

Wapner R, Thom E, Simpson JL, et al.; First Trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) Study Group. First-trimester screening for trisomies 21 and 18. N Engl J Med. 2003;349(15):1405-1413.

Weinans MJN, Sancken U, Pandian R, et al. Invasive trophoblast antigen (hyperglycosylated human chorionic gonadotropin) as a first-trimester serum marker for Down syndrome. Clin Chem. 2005;51(7):1276-1279.

Coding

CPT Procedure Code Number(s)
MEDICALLY NECESSARY

76813, 76814, 81508, 82397, 84163, 84702, 84704

THE FOLLOWING CODE REPRESENTS ASSESSMENT/MEASUREMENT OF FETAL NASAL BONE BY SONOGRAPHY

76815
ICD - 10 Procedure Code Number(s)
N/A
ICD - 10 Diagnosis Code Number(s)
Z36.0 Encounter for antenatal screening for chromosomal anomalies

Z36.82 Encounter for antenatal screening for nuchal translucency

Z36.8A Encounter for antenatal screening for other genetic defects​
HCPCS Level II Code Number(s)
N/A
Revenue Code Number(s)
N/A

​

Coding and Billing Requirements

Policy History

Revisions From 09.00.36m:
​06/24/2026
​The policy has been reviewed and reissued to communicate the Company’s continuing position on First-Trimester Prenatal Screening for Fetal Aneuploidy Using Fetal Ultrasound Markers.​
​02/19/2025
​The policy has been reviewed and reissued to communicate the Company’s continuing position on First-Trimester Prenatal Screening for Fetal Aneuploidy Using Fetal Ultrasound Markers.​
​​06/26/2024
​The policy has been reviewed and reissued to communicate the Company’s continuing position on First-Trimester Prenatal Screening for Fetal Aneuploidy Using Fetal Ultrasound Markers.​
​09/06/2023
​The policy has been reviewed and reissued to communicate the Company’s continuing position on First-Trimester Prenatal Screening for Fetal Aneuploidy Using Fetal Ultrasound Markers.​
11/21/2022​This version of the policy will become effective 11/21/2022. 

The following CPT codes have been terminated:​
​0124U, 0125U, 0126U​

Revisions From 09.00.36l:​​
​03/10/202​1
​This policy has been reissued in accordance with the Company's annual review process.​
​03/23/2020This version of the policy will become effective 03/23/2020. The following CPT codes have been added to this policy as Experimental/Investigational: 0124U, 0125U, 0126U.

Revisions From 09.00.36k:
02/27/2019The policy has been reviewed and reissued to communicate the Company’s continuing position on First-Trimester Prenatal Screening for Fetal Aneuploidy Using Fetal Ultrasound Markers.
04/09/2018The policy has undergone a routine review, and coverage positions have been added for nuchal translucency measurements alone as a screening tool for fetal aneuploidy in multiple pregnancies (medically necessary) and nuchal translucency measurements in women with negative cell-free DNA screening (not medically necessary).

Effective 10/05/2017 this policy has been updated to the new policy template format.
11/21/2022
11/21/2022
6/24/2026
09.00.36
Medical Policy Bulletin
Commercial
No
Connect with Us

2026 Independence Blue Cross

Independence Blue Cross is a subsidiary of Independence Health Group, Inc. — independent licensees of the Blue Cross and Blue Shield Association, serving the health insurance needs of Philadelphia and southeastern Pennsylvania.