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MaterniT21 PLUS Core + ESS

CPT: 81420
81420; 81422
81420
Updated on 09/22/2020
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Special Instructions

The following information must be provided with the test request form: patient's date of birth, gestational age, additional patient demographic information, pregnancy type (singleton or multiple), donor egg status and the clinical indications (including advanced maternal age, abnormal ultrasound, history suggestive of increased risk for aneuploidy, positive serum screen, or other indications).


Expected Turnaround Time

3 - 5 days

4 - 7 days

3 - 5 days


Related Documents

For more infomation, please view the literature below.

MaterniT 21 PLUS ESS Patient Brochure


    Specimen Requirements


    Specimen

    Whole blood


    Volume

    (1) 10 mL

    (1) 10 mL

    (1) 10 mL

    (1) 10 mL

    (1) 10 mL


    Minimum Volume

    8 mL


    Container

    Black-and-tan-top (Streck) tube (whole blood). Sequenom collection kits are available (PeopleSoft #116373 379551G-CS-LCA.SEQUENOM-LCA.SEQUENOM-LCA ONLY KIT EA=1/KIT and PeopleSoft #116374 549403G-CS-LCA.SEQUENOM-LCA TEST REG STICKERS ST=3/SET).


    Collection

    Only the Sequenom collection kit PS#116373 can be used for collection.


    Storage Instructions

    Room temperature. Do not refrigerate or freeze. Keep out of direct sunlight. Samples must be shipped to LabCorp in a Sequenom collection kit.


    Causes for Rejection

    Gestational age less than nine weeks; expired or incorrect blood tubes (including nonglass tubes); quantity not sufficient for analysis; received more than seven days from collections; excessive hemolysis; frozen specimens


    Test Details


    Use

    For pregnancies at increased risk of fetal abnormalities, the MaterniT21 PLUS test delivers a comprehensive NIPT for the analysis of chromosomal regions including trisomies 21, 18, and 13, fetal sex, and an enhanced sequencing series that examines seven clinically relevant microdeletions and two additional chromosomal regions, trisomies 22 and 16.


    Limitations

    While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal organ transplant; or other causes. Cell-free DNA (cfDNA) testing does not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis. A patient with a positive or high risk score test result should be referred for genetic counseling and tests are not intended to identify pregnancies at risk for neural tube defects or ventral wall defects. cfDNA testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential discovery of both fetal and maternal genomic abnormalities that could have minor or no clinical significance.

    Evaluating the significance of a positive or nonreportable test result may involve both invasive prenatal testing and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant maternal neoplasms. cfDNA testing may not accurately identify fetal triploidy, balanced rearrangements, or the precise locations of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis with CVS or amniocentesis. The ability to report results may be impacted by maternal body mass index (BMI), maternal weight, and/or maternal systemic lupus erythematosus (SLE). The results of this testing, including the benefits and limitations, should be discussed with a qualified health care provider. Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of this test alone.

    This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).


    Methodology

    Cell-free DNA is isolated from the sample and analyzed using massively parallel sequencing technology.


    References

    American College of Obstetricians and Gynecologists. Profile of Ob-Gyn Practice. ACOG Web site: http://www.acog.org/~/media/ Departments/Practice/ProfileofOb-gynPractice1991-2003.pdf? dmc=1&ts=20140216T0236326521. Accessed April 29, 2016.
    Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012 May;119(5):890-901.22362253
    Canick JA, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn. 2012 Aug;32(8):730-734.22585317
    Danielsson K. Trisomy 22 Types and the Link to Miscarriage. Very Well Family Web site: https://www.verywell.com/trisomy-22-and-miscarriage-2371299. Published April 2016. Accessed April 27, 2016. Updated October 30, 2018.
    Disorders of Chromosome 16 Foundation. A Brief (and Basic) Overview of Chromosome 16 Disorders. Disorders of Chromosome 16 Foundation Web site: http://www.trisomy16.org/about/what_are_doc16.html. Published 2011. Accessed April 27, 2016.
    Helgeson J, Wardrop J, Boomer T, et al. Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing. Prenat Diagn. 2015 Oct;35(10):999-1004.26088833
    Mazloom AR, Dzakula Z, Oeth P, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn. 2013 Jun;33(6):591-597.23592550
    Norton ME, Brar H, Weiss J, et al. Non-invasive chromosomal evaluation (NICE) study: results of a multicenter, prospective, study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-e8.22742782
    Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13, as well as Down syndrome: An international collaborative study. Genet Med. 2012 Mar;14(3):296-305.22281937
    Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet Med. 2011 Nov;13(11):913-920.22005709
    Pergament E, Cuckle H, Zimmermann B, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol. 2014 Aug;124(2 Pt 1):210-218.25004354
    US National Library of Medicine. Angelman syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/angelman-syndrome#statistics. Published May 2015. Accessed April 27, 2016.
    US National Library of Medicine. Cri-du-chat syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome#statistics. Published February 2014. Accessed April 27, 2016.
    US National Library of Medicine. Down syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/down-syndrome# statistics. Published June 2012. Accessed April 27, 2016.
    US National Library of Medicine. Jacobsen syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/jacobsen-syndrome#statistics. Published September 2015. Accessed April 27, 2016.
    US National Library of Medicine. Klinefelter syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/klinefelter-syndrome#statistics. Published January 2013. Accessed April 27, 2016.
    US National Library of Medicine. Prader-Willi syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/prader-willi-syndrome#statistics. Published June 2014. Accessed April 27, 2016.
    US National Library of Medicine. Trichorhinophalangeal syndrome type II. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/langer-giedion-syndrome#statistics. Published February 2009. Accessed April 27, 2016.
    US National Library of Medicine. Triple X syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/triple-x-syndrome#statistics. Published June 2014. Accessed April 27, 2016.
    US National Library of Medicine. Trisomy 13. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/trisomy-13# statistics. Published November 2013. Accessed April 27, 2016.
    US National Library of Medicine. Trisomy 18. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/trisomy-18# statistics. Published March 2012. Accessed April 27, 2016.
    US National Library of Medicine. Turner syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/turner-syndrome#statistics. Published January 2012. Accessed April 27, 2016.
    US National Library of Medicine. Wolf-Hirschhorn syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome#statistics. Published April 2012. Accessed April 27, 2016.
    US National Library of Medicine. 1p36 deletion syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome#statistics. Published January 2014. Accessed April 27, 2016.
    US National Library of Medicine. 22q11.2 deletion syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome#statistics. Published July 2013. Accessed April 27, 2016.
    US National Library of Medicine. 47,XYY syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/47xyy-syndrome#statistics. Published January 2009. Accessed April 27, 2016.

    LOINC® Map

    Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
    451931 MaterniT21 PLUS Core+ESS 452182 Gestation 53693-8
    451931 MaterniT21 PLUS Core+ESS 452183 Fetal Fraction 75605-6
    451931 MaterniT21 PLUS Core+ESS 452184 Gestational Age > or = 9w: N/A
    451931 MaterniT21 PLUS Core+ESS 451942 Test Result 75980-3
    451931 MaterniT21 PLUS Core+ESS 821814 Lab Director Comments 72486-4
    451931 MaterniT21 PLUS Core+ESS 821815 Approved By 72486-4
    451931 MaterniT21 PLUS Core+ESS 452177 Trisomy 21 (Down Syndrome) 75983-7
    451931 MaterniT21 PLUS Core+ESS 452178 Trisomy 18 (Edwards Syndrome) 75558-7
    451931 MaterniT21 PLUS Core+ESS 452179 Trisomy 13 (Patau Syndrome) 73824-5
    451931 MaterniT21 PLUS Core+ESS 452180 Fetal Sex 75693-2
    451931 MaterniT21 PLUS Core+ESS 452164 22q11 deletion (DiGeorge) 75578-5
    451931 MaterniT21 PLUS Core+ESS 452165 15q11 deletion (PW Angelman) 92903-4
    451931 MaterniT21 PLUS Core+ESS 452166 11q23 deletion (Jacobsen) 92899-4
    451931 MaterniT21 PLUS Core+ESS 452167 8q24 deletion (Langer-Giedion) 92902-6
    451931 MaterniT21 PLUS Core+ESS 452168 5p15 deletion (Cri-du-chat) N/A
    451931 MaterniT21 PLUS Core+ESS 452169 4p16 deletion(Wolf-Hirschhorn) 92900-0
    451931 MaterniT21 PLUS Core+ESS 452170 1p36 deletion syndrome 75602-3
    451931 MaterniT21 PLUS Core+ESS 452250 Trisomy 16 N/A
    451931 MaterniT21 PLUS Core+ESS 452251 Trisomy 22 N/A
    451931 MaterniT21 PLUS Core+ESS 452252 Negative Predictive Value N/A
    451931 MaterniT21 PLUS Core+ESS 452171 Positive Predictive Value N/A
    451931 MaterniT21 PLUS Core+ESS 821817 About the Test 77202-0
    451931 MaterniT21 PLUS Core+ESS 821816 Test Method 49549-9
    451931 MaterniT21 PLUS Core+ESS 821818 Performance 62364-5
    451931 MaterniT21 PLUS Core+ESS 452181 Performance Characteristics N/A
    451931 MaterniT21 PLUS Core+ESS 821822 Limitations of the Test N/A
    451931 MaterniT21 PLUS Core+ESS 821823 Note N/A
    451931 MaterniT21 PLUS Core+ESS 821824 References 75608-0
    451931 MaterniT21 PLUS Core+ESS 821825 PDF 51969-4

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    CPT Statement/Profile Statement

    The LOINC® codes are copyright © 1994-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf