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Title: NIPT Trisomy 21, 18, 13, X & Y Chromosomes Test
Date: 18-Jun-2013
Description: The MaterniT21Plus laboratory-developed test is a non-invasive blood test to detect the chromosomal abnormalities. The MaterniT21Plus test can detects an increase amount of chromosomal 21,18 and 13 materials as well as abnormal amount of X or Y chromosome that is circulating in a pregnant women blood as early as 10 week.

MaterniT21 PLUS – Non-Invasive Prenatal Test For Trisomy 21, 18,13, X&Y Chromosomes

The MaterniT21Plus laboratory-developed test is a non-invasive blood test to detect the chromosomal abnormalities. The MaterniT21Plus test can detects an increase amount of chromosomal 21,18 and 13 materials as well as abnormal amount of X or Y chromosome that is circulating in a pregnant women blood as early as 10 weeks.

MaterniT21 Plus test is developed and validated by Sequenom Center for Molecular Medicine® (Sequenom CMM), a CAP accredited and CLIA-certified molecular diagnostics laboratory based in San Diego, USA.

What Are Chromosomal Abnormalities

Chromosomes are structures that hold the genes inside every cell of the body. Genes are inherited from our parents. Genes contain the messages that tell the body how to grow and develop. Most people have 23 pairs of chromosomes, which each carry thousands of genes. The first 22 pairs are called the autosomes, and are the same in males and females. The 23rd pair are the sex chromosomes –X and Y. Some people are born with an extra or missing chromosome. Trisomy are those having 3 copies of chromosomes. The Most common fetal trisomies are trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome). There is also a possibility where people are born with extra or missing chromosome.

Who Should be Tested?

The MaterniT21Plus test was clinically validated in a population of pregnant women with increased risk for chromosomal aneuploidy, including one or more of the following:
·         Advanced maternal age
·         Fetal ultrasound abnormality suggestive of aneuploidy
·         Personal/ family history of chromosomal abnormalities
·         Positive serum screening test
 
Clinically Validated, Published Study
The performance characteristics of the MaterniT21 PLUS test have been determined in a large clinical validation study with 4,664 pregnant women at increased risk for fetal chromosomal aneuploidies. This study was independently designed and analyzed by Women and Infants Hospital of Rhode Island (WIHRI), part of the Alpert Medical School of Brown University. The MaterniT21 PLUS test detects fetal aneuploidies for chromosomes 21, 18, 13 in singletons, twins and higher order multiple pregnancies. The test also makes a determination for chromosomes X and Y. Sex chromosomal aneuploidies are not reported in multiple pregnancies.
 
A patient with a positive result should be referred for genetic counselling and offered invasive prenatal diagnosis for confirmation of test results. Results from this test do not eliminate the possibility that other chromosomal abnormalities may exist in this pregnancy and a negative result does not ensure an unaffected pregnancy. While results of this testing are highly accurate, not all chromosomal abnormalities may be detected due to placental, maternal or fetal mosaicism, or other causes.
 
MaterniT21 Plus Test Validation Performance in Laboratory

 

 
Unique, Proven Circulating Cell-Free Fetal Nucleic Acid (ccff) Technology
·         Sequenom holds an exclusive platform-independent license for fetal nucleic acid detection in serum and plasma, branded under the name SEQureDx® technology .
·         Has 283 Trisomies Analyzed in Validation Studies
·         Genetic Method: Massively Parallel Sequencing method
 
Specimen Requirement:    2x 10ml whole blood
( *Kindly contact Gribbles for MaterniT21Plus Collection kits)
Gestational Week:               ≥ 10 weeks
Turn-Around-Time:             2 – 3 weeks
 
Reference:
  1. Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA. DNA Sequencing of Maternal Plasma to Detect Down syndrome: An International Clinical Validation. Genet Med. 2011;13(11):913-920.

  2. Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13, as well as Down syndrome: An international collaborative study. Genet Med. 2012;14(3):296-305.

  3. Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011;204(3):205.

  4. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wainscoat JS. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350(9076):485-487.

  5. Finning KM, Martin PG, Soothill PW, Avent ND. Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service. Transfusion. 2002;42(8):1079-1085.

  6. Bianchi DW. Circulating fetal DNA: its origin and diagnostic potential-a review. Placenta. 2004;25 Suppl A:S93-S101.

  7. Ding C, Chiu RW, Lau TK, Leung TN, Chan LC, Chan AY, Charoenkwan P, Ng IS, Law HY, Ma ES, Xu X, Wanapirak C, Sanguansermsri T, Liao C, Ai MA, Chui DH, Cantor CR, Lo YM. MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis. Proc Natl Acad Sci USA. 2004;101(29):10762-10767.

  8. Gautier E, Benachi A, Giovazngrandi Y, Ernault P, Olivi M, Gaillon T, Costa JM. Fetal RhD genotyping by maternal serum analysis: a two-year experience. Am J Obstet Gynecol. 2005;192(3):666-669.

  9. Canick JA, Kloza EM, Lambert-Messerlian GM, Haddow JE, Ehrich M, van den Boom D, Bombard AT, Deciu C, Palomaki GE. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn. 2012;32(8):730-734.

  10. Mazloom AR, et al. Accuracy of Noninvasive Prenatal Sex Determination using Massively Parallel Sequencing in Samples from a Large Clinical Validation Study. Poster presented at the 2012 Annual American Society of Human Genetics Meeting, November 6-10, 2012; San Francisco, CA.

  11. Sequenom Center for Molecular Medicine, submitted for publication, 2013.

  12. Committee opinion no. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol. 2012;120(6):1532-1534.

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