MaterniT21 PLUS Core (chr21,18,13) NO Gender

CPT: 81420
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Test Details

Use

The MaterniT21 PLUS test is a comprehensive NIPT for the analysis of chromosomal regions including trisomies 21, 18, and 13, for pregnancies at increased risk of fetal abnormalitites.

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.

Specimen Requirements

Specimen

Whole blood

Volume

(2) 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

Clinical Information

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).

References

American College of Obstetricians and Gynecologists (2004). Retrieved April 29, 2016, from http://www.acog.org/~/media/Departments/Practice/ProfileofOb-gynPractice1991-2003.pdf?dmc=1&ts=20140216T0236326521
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
Disorders of Chromosome 16 Foundation. (2011). Retrieved April 27, 2016, from http://www.trisomy16.org/about/what_are_doc16.html
Genetics Home Reference. (2012, June). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/down-syndrome#statistics
Genetics Home Reference. (2012, March). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/trisomy-18#statistics
Genetics Home Reference. (2013, November). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/trisomy-13#statistics
Genetics Home Reference. (2012, January). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/turner-syndrome#statistics
Genetics Home Reference. (2013, January). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/klinefelter-syndrome#statistics
Genetics Home Reference. (2014, June). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/triple-x-syndrome#statistics
Genetics Home Reference. (2009, January). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/47xyy-syndrome#statistics
Genetics Home Reference. (2013, July). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome#statistics
Genetics Home Reference. (2014, February). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome#statistics
Genetics Home Reference. (2014, January). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome#statistics
Genetics Home Reference. (2014, June). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/prader-willi-syndrome#statistics
Genetics Home Reference. (2015, May). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/angelman-syndrome#statistics
Genetics Home Reference. (2015, September). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/jacobsen-syndrome#statistics
Genetics Home Reference. (2009, February). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/langer-giedion-syndrome#statistics
Genetics Home Reference. (2012, April). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome#statistics
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):137.22742782
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
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
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
Understanding Trisomy 22 Types and Their Link to Miscarriage (2016, April). Retrieved April 27, 2016, from https://www.verywell.com/trisomy-22-and-miscarriage-2371299

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
451951 MaterniT21 PLUS Core NO Gender 821805 Chromosome 21 75983-7
451951 MaterniT21 PLUS Core NO Gender 821806 Chromosome 18 75982-9
451951 MaterniT21 PLUS Core NO Gender 821807 Chromosome 13 75981-1
451951 MaterniT21 PLUS Core NO Gender 821808 Interpretation 75975-3
451951 MaterniT21 PLUS Core NO Gender 821809 Y Chromosome 77021-4
451951 MaterniT21 PLUS Core NO Gender 821810 Y Chromosome Interpretation 77020-6
451951 MaterniT21 PLUS Core NO Gender 821811 Additional Findings 8251-1
451951 MaterniT21 PLUS Core NO Gender 821812 Add'l Findings Interpretation 8262-8
451951 MaterniT21 PLUS Core NO Gender 821813 Additional Findings Note 8264-4
451951 MaterniT21 PLUS Core NO Gender 821814 Lab Director Comments 75605-6
451951 MaterniT21 PLUS Core NO Gender 821815 Approved By 72486-4
451951 MaterniT21 PLUS Core NO Gender 821816 Test Method 49549-9
451951 MaterniT21 PLUS Core NO Gender 821817 About the Test 77202-0
451951 MaterniT21 PLUS Core NO Gender 821818 Performance 62364-5
451951 MaterniT21 PLUS Core NO Gender 821821 Performance Data 62364-5
451951 MaterniT21 PLUS Core NO Gender 821822 Limitations of the Test N/A
451951 MaterniT21 PLUS Core NO Gender 821823 Note N/A
451951 MaterniT21 PLUS Core NO Gender 821824 References 75608-0
451951 MaterniT21 PLUS Core NO Gender 821825 PDF 51969-4
451951 MaterniT21 PLUS Core NO Gender 451952 MaterniT21 PLUS Core NO Gender N/A

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CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2017, 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