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MaterniT 21 Plus

MaterniT 21 Plus

With a blood draw from you as early as nine weeks into your pregnancy, the MaterniT® 21 PLUS test can screen for certain chromosomal abnormalities that could affect your baby’s health and development, providing you with more information earlier in your pregnancy. 

What it screens for—and why

Like most noninvasive prenatal tests (NIPT), MaterniT 21 PLUS screens for certain chromosomal abnormalities called trisomies, including trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome).

But it digs deeper, screening for certain sex chromosome aneuploidies (SCAs, abnormal numbers of X or Y chromosomes) and select microdeletions (missing parts of chromosomes).

While rare, these chromosomal abnormalities can have profound consequences in the life and health of your child. Detecting this information early can help your doctor recommend specialized care for you and your baby, before and after delivery.

The MaterniT 21 PLUS test detects the following chromosomal abnormalities:

TRISOMIES
Trisomy 21 (Down syndrome)
Trisomy 18 (Edwards syndrome)
Trisomy 13 (Patau syndrome)
Trisomy 16*
Trisomy 22*
SCAS*
45,X (Turner syndrome)
47,XXY (Klinefelter syndrome)
47,XXX (Triple X syndrome)
47,XYY (XYY syndrome)
MICRODELETIONS
22q (DiGeorge syndrome)* 11q (Jacobsen syndrome)*
5p (Cri-du-chat syndrome)* 8q (Langer-Giedion syndrome)*
1p36 deletion syndrome* 4p (Wolf-Hirschhorn syndrome)*
15q (Prader-Willi syndrome; Angelman syndrome)*

* Reported as an additional finding. Talk to your doctor about your options.

Why “noninvasive?”

There are many ways to get this information, including methods such as serum screens and diagnostic procedures such as amniocentesis.

As a noninvasive prenatal test, MaterniT 21 PLUS is different from both. It has higher detection rates than serum screening1 (determined to be 97.9% positive predictive value for trisomy 21 in a high-risk cohort2), and requires only a blood draw from the mother; amniocentesis requires withdrawing fluid from around the developing baby.

Most women who get the MaterniT 21 PLUS will screen negative for chromosomal abnormalities and may not require further testing.

However, any patient with a positive test result may be offered genetic counseling and/or diagnostic testing for confirmation of test results.

Clear results, delivered quickly

The test delivers clear positive or negative results for well known chromosomal abnormalities, such as trisomy 21 (Down syndrome), typically returned in about five days from the receipt of your blood draw at our lab in California.

Also, if you’re carrying twins, MaterniT 21 PLUS can detect common chromosomal abnormalities in multiple gestation pregnancies.

References

  1. Practice Bulletin No. 163 Summary. (2016). Obstetrics & Gynecology, 127(5), 979-981. 
  2. Porreco RP, Garite TJ, Maurel K et al. Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. Am J Obstet Gynecol 2014;211:365.e1–12.
  3. llumina. https://www.illumina.com/clinical/illumina_clinical_laboratory/verifi-prenatal-tests.html. Accessed August 15, 2018.