OVERVIEW

MaterniT® GENOME

The most comprehensive information available from a noninvasive prenatal test to date.

Knowledge is empowering.

The MaterniT® GENOME laboratory-developed test is the only noninvasive prenatal test available to date that can analyze every chromosome of your baby to identify extra or missing parts of chromosomes or whole chromosome changes—as early as ten weeks into your pregnancy.



TEST DETAILS

MaterniT® GENOME

All-in-one noninvasive prenatal testing for chromosomal abnormalities genome-wide.

Is my pregnancy at risk of a chromosomal abnormality?

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Anyone can have a pregnancy with a chromosomal abnormality—healthy women, mothers of all ages and all ethnicities can be at risk.

With the MaterniT® GENOME laboratory-developed test, Sequenom Laboratories introduced the only noninvasive approach to assessing chromosome information to date with the ease of a blood draw that can analyze EVERY chromosome in the genome.

As early as ten weeks gestation, the MaterniT® GENOME test can identify common whole chromosome abnormalities such as trisomy 21 (Down syndrome) as well as extra or missing parts of chromosomes that can cause genetic conditions difficult to diagnose at birth. Test results are easy to understand and available within five days after the sample is received in the laboratory. Gaining prenatal knowledge of these conditions can help ensure that your baby receives the proper care immediately.

While the results of the MaterniT® GENOME test 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. This test is a screening test and not diagnostic; it does not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis. A patient with a positive MaterniT® GENOME test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results. A negative MaterniT® GENOME test result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of this test. An uninformative result may be reported, the causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. The MaterniT® GENOME test is not intended to identify pregnancies at risk for neural tube defects or ventral wall defects. 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 major, minor, or no clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive 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. This test may not accurately identify fetal triploidy, balanced rearrangements, or the precise location 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 BMI, maternal weight, maternal systemic lupus erythematosus (SLE), and/or certain pharmaceutical agents such as low molecular weight heparin (for example: Lovenox®, Xaparin®, Clexane® and Fragmin®). 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.



How it Works

Rest assured in five easy steps

Assess the following resources to learn more about your testing options, start the process with your physician and purchase a test.

Step 1


Explore
our genetic tests

Step 2


Talk
to your doctor

Step 3


Find
a blood draw location

Step 4


Understand
billing and insurance

Step 5

Schedule
genetic counseling


Reproductive Health

A comprehensive family planning test menu is available

Sequenom Laboratories is here for you throughout the process of understanding your genetic information.

We are the pioneer and innovation leader in family planning and prenatal testing. With the broadest suite of solutions addressing your needs from pre-conception planning to prenatal testing and invasive diagnostics, we deliver complete and accurate information when you need it.

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Support

Committed to you

We will assist you through every testing decision.

Let our knowledgeable and attentive Support team guide you through your testing decisions, answer questions about billing and insurance, and provide you with personalized, live assistance.

If your test indicates a positive result, our Genetic Counseling team is ready to explain the risk and answer your questions in terms you can easily understand. This in-depth, genetic counseling session with a board-certified genetic counselor is provided at no additional cost to you.

877.821.7266

CLIENTSERVICES@SEQUENOM.COM

OVERVIEW

MaterniT® GENOME

Detects up to 25% more clinically relevant chromosomal information than other leading NIPTs.

NIPT is now in HD.

The MaterniT® GENOME laboratory-developed test is the only genome-wide NIPT currently available. It provides information about gains or losses of chromosomal material across the genome, delivered with a simple reporting style designed to facilitate communication between you and your patient.



TEST DETAILS

MaterniT® GENOME

Powerful NIPT for whole-genome analysis.

Clinically relevant

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The MaterniT® GENOME test is the only genome-wide NIPT that provides karyotype-level insight, information about deletions or duplications of chromosome material 7 Mb or larger, as well as analysis of seven clinically relevant microdeletion regions less than 7 Mb in size.

Sophisticated DNA analysis is delivered in straightforward terms—positive or negative—to facilitate effective communication between you and your patient. A chromosome ideogram illustrates abnormal results for improved comprehension.

Our test can be utilized as early as ten weeks gestation. The results are provided in approximately five days from receipt of the sample in the laboratory.

With exceptional sensitivity and specificity, MaterniT® GENOME is effective in identifying > 95% of genome-wide deletions or duplications ≥ 7 Mb.

While the results of the MaterniT® GENOME test 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 MaterniT® GENOME test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results. A negative MaterniT® GENOME test result does not ensure an unaffected pregnancy. An uninformative result may be reported, the causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. The MaterniT® GENOME test is 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 a non-reportable test result may involve both invasive prenatal testing and additional studies on the mother. Such investigations may lead to detection 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 location 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.

MaterniT GENOME Performance Characteristics

The MaterniT GENOME test utilizes the same proprietary technology as the MaterniT 21 PLUS test, with deeper sequencing. In a clinical study using 448 patient samples to evaluate concordance, the MaterniT GENOME test was equivalent in performance, for the analysis of trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies and fetal sex classification, to the MaterniT 21 PLUS test. The MaterniT 21 PLUS test performance has previously been validated and published extensively. 1-5

The MaterniT GENOME test performance characteristics for the detection of genome-wide gain or loss events ≥7 Mb, and select microdeletions below 7 Mb, were established using in silico analytic methods, and validated using test samples comprised of genomic DNA mixed with plasma from non-pregnant females. Sensitivity for genome-wide events ≥7 Mb was determined to be 95.9%. Sensitivities for select microdeletions varied by size of the event and fetal fraction. Specificity for genome-wide events and select microdeletions was established using 1060 maternal plasma DNA samples and was determined to be >99.9%. 

Additional details can be found in the table below.

Size Mb Sensitivity Specificity
7-10 Mb 92.9% >99.9%
11-15 Mb 98.1% >99.9%
15+ Mb 99.5% >99.9%
MaterniT GENOME Performance Characteristics

The MaterniT GENOME test utilizes the same proprietary technology as the MaterniT 21 PLUS test, with deeper sequencing. In a clinical study using 448 patient samples to evaluate concordance, the MaterniT GENOME test was equivalent in performance, for the analysis of trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies and fetal sex classification, to the MaterniT 21 PLUS test. The MaterniT 21 PLUS test performance has previously been validated and published extensively. 1-5

The MaterniT GENOME test performance characteristics for the detection of genome-wide gain or loss events ≥7 Mb, and select microdeletions below 7 Mb, were established using in silico analytic methods, and validated using test samples comprised of genomic DNA mixed with plasma from non-pregnant females. Sensitivity for genome-wide events ≥7 Mb was determined to be 95.9%. Sensitivities for select microdeletions varied by size of the event and fetal fraction. Specificity for genome-wide events and select microdeletions was established using 1060 maternal plasma DNA samples and was determined to be >99.9%. 

Additional details can be found in the table below.

Region (associated syndrome) Size range (Mb)* Median size (Mb)* Reportable fetal fraction Estimated sensitivity** Estimated specificity
Genome-wide
(≥ 7Mb)
NA NA ≥ 4% 96% (61–> 99%) > 99.9%
22q11.2 (DiGeorge) 0.8-3.6 2.6 ≥ 4% > 74% (17–94%) > 99.9%
15q11.2 (Prader-Willi & Angelman) 1.2-15.8 5.1 ≥ 4% > 59% (16–74%) > 99.9%
11q23 (Jacobsen) 1.3-15.7 9 ≥ 4% > 87% (57–> 99%) > 99.9%
8q24.11-q24.13 (Langer-Giedion) 7.6-8.8 7.9 ≥ 4% > 97% (80–> 99%) > 99.9%
5p15.3 (Cri du Chat) 1.5-17.8 6 ≥ 4% > 83% (48–96%) > 99.9%
4p16.3 (Wolf-Hirschhorn) 1.1-17.3 4.2 ≥ 4% > 73% (37–91%) > 99.9%
1p36 (1p36 deletion syndrome) 1.6-13.3 3.8 ≥ 4% > 51% (13–81%) > 99.9%

*As reported in ISCA database nstd37 [http://dbsearch.clinicalgenome.org/search]

**Sensitivity estimated across the observed size distribution of each syndrome (per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. Figures in parentheses indicate upper and lower estimates for sensitivity at the lowest reportable fetal fraction (4%) and at fetal fraction ≥ 20%, respectively. Actual sensitivity can also be influenced by other factors such as the size of the event, total sequence counts, amplification bias, or sequence bias



How it Works

Give your patients the easiest path to peace of mind

Step 1


Explore
our genetic tests

Step 2


Talk
to your doctor

Step 3


Find
a blood draw location

Step 4


Understand
billing and insurance

Step 5

Schedule
genetic counseling


Reproductive Health

The most comprehensive family planning tests available

Sequenom Laboratories is here for you throughout the process of interpreting genetic information.

We are the pioneer and innovation leader in prenatal and family planning testing. With the broadest solution suite addressing your patient’s needs from pre-conception planning to noninvasive prenatal testing and invasive diagnostics, we deliver complete and accurate information.

PRE-CONCEPTION + PRENATAL CARRIER SCREENING
Last Segment: maternit-genome
Entry slug: heredit-universal
Last Segment: maternit-genome
Entry slug: heredit-cf
NONINVASIVE PRENATAL TESTING
Last Segment: maternit-genome
Entry slug: maternit-genome
active
Last Segment: maternit-genome
Entry slug: maternit21-plus
Last Segment: maternit-genome
Entry slug: visibilit
Last Segment 2: maternit-genome
Entry slug 2: sensigene-rhd
PRENATAL DIAGNOSTIC TESTING
Last Segment 2: maternit-genome
Entry slug 2: nextview-array


Support

Committed to patients

We will assist you in interpreting your patients’ genetic information.

Sequenom Laboratories health care providers receive consistent, knowledgeable, and attentive support with live assistance from clinical, sales, billing, and laboratory personnel to address your needs quickly. In-house billing associates and highly efficient turnaround times allow for faster answers and greater patient satisfaction.

When needed, Sequenom Laboratories genetic counselors are available for your patients who test positive, at no additional cost. Counseling provides access to board-certified genetic counselors who are skilled at explaining genetic risks in terms patients can understand. Best of all, these genetic counseling sessions allow you to increase the excellence of care your patients receive.

877.821.7266

CLIENTSERVICES@SEQUENOM.COM

References

  1. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
  2. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
  3. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
  4. Mazloom AR, et al. American Society of Human Genetics. November 2012.
  5. Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.