MaterniT21 PLUS Core (chr21,18,13,sex)

TEST: 451927
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CPT: 81420
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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

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Documents

For more information, please view the literature below.

MaterniT 21 PLUS ESS Patient Brochure

    Specimen Requirements

    Specimen

    Whole blood

    Volume

    (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.

    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 Food and Drug Administration.

    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
    451927 MaterniT21 PLUS Core 452182 Gestation 53693-8
    451927 MaterniT21 PLUS Core 452183 Fetal Fraction 75605-6
    451927 MaterniT21 PLUS Core 452184 Gestational Age > or = 9w: N/A
    451927 MaterniT21 PLUS Core 451942 Test Result 75980-3
    451927 MaterniT21 PLUS Core 821814 Lab Director Comments 72486-4
    451927 MaterniT21 PLUS Core 821815 Approved By 72486-4
    451927 MaterniT21 PLUS Core 452177 Trisomy 21 (Down Syndrome) 75983-7
    451927 MaterniT21 PLUS Core 452178 Trisomy 18 (Edwards Syndrome) 75558-7
    451927 MaterniT21 PLUS Core 452179 Trisomy 13 (Patau Syndrome) 73824-5
    451927 MaterniT21 PLUS Core 452180 Fetal Sex 75693-2
    451927 MaterniT21 PLUS Core 452252 Negative Predictive Value N/A
    451927 MaterniT21 PLUS Core 452171 Positive Predictive Value N/A
    451927 MaterniT21 PLUS Core 821817 About the Test 77202-0
    451927 MaterniT21 PLUS Core 821816 Test Method 49549-9
    451927 MaterniT21 PLUS Core 821818 Performance 62364-5
    451927 MaterniT21 PLUS Core 452181 Performance Characteristics N/A
    451927 MaterniT21 PLUS Core 821822 Limitations of the Test N/A
    451927 MaterniT21 PLUS Core 821823 Note N/A
    451927 MaterniT21 PLUS Core 821824 References 75608-0
    451927 MaterniT21 PLUS Core 821825 PDF 51969-4

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    CPT Statement/Profile Statement

    The LOINC® codes are copyright © 1994-2021, 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