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MaterniT 21 PLUS Core + ESS + SCA (Singleton)

CPT: 81420

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 only), 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.


Specimen Requirements


Specimen

Whole blood


Volume

(1) 10 mL


Minimum Volume

8 mL


Container

Black-and-tan-top (Streck) tube (whole blood). MaterniT collection kits are available.


Collection

Only the MaterniT and Sequenom collection kit 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 MaterniT 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; twin and multiple gestation pregnancies


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, sex chromosome aneuploidies, 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 Food and Drug Administration.


Methodology

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


Pregnancy Week

0-13 Weeks
14-21 Weeks
22+ Weeks

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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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