About QNatal^® Advanced

The most comprehensive content, the best technology

With cell-free DNA technology, noninvasive prenatal screening can provide healthcare providers and their patients a safe way to detect chromosomal abnormalities in pregnancies. Most tests are limited in which aneuploidies they can detect, the types of pregnancies that can be analyzed and the reliability of data. With QNatal^® Advanced, you can expect more and know more from the results.

Greater accuracy across a wider range of detection:

Comprehensive

• Reports both common and rare fetal chromosomal abnormalities, from trisomies 21,18, and 13 to fetal sex aneuploidies and select copy number variants
• Appropriate for all high-risk pregnancies, including multiple gestations and IVF using donor egg 

Accurate  

• Provides clear, direct results with high sensitivity and specificity
• Low non-reportable rates^1-7

QNatal^® Advanced uses validated technology

• MPSS technology* with GC correction has been validated in the largest-of-its-kind clinical study of 4,664 women with high-risk pregnancies
• Validation study designed, analyzed and confirmed by independent investigators

* MPSS: Massively Parallel Shotgun Sequencing

Timely

• Test can be performed as early as 10 weeks gestation

MPSS validation with GC correction^{1,2, 8, 9}

The validation characteristics of the QNatal^® Advanced assay are consistent with the data presented above for MPSS with GC correction.¹⁰

Innovation translating to deeper insights

With its ability to analyze more chromosomal regions than most other noninvasive prenatal screening to date, QNatal^® Advanced can detect the following chromosomal abnormalities

How QNatal^® Advanced works

QNatal^® Advanced examines cell-free fetal DNA in maternal circulation using Massively Parallel Shotgun Sequencing technology.

• Enhanced Sequencing Series also available: provides excellent analytical performance across a wide dynamic range (3 Mb to 40 Mb) for detection of microdeletions/duplications

For your reference: general overview of select microdeletions11-18
Name	Site of  Anomaly	Frequency   of Live Births	Description
DiGeorge    Syndrome	22q11	1 in 4,000	DiGeorge syndrome is an autosomal dominant condition caused by a submicroscopic deletion on the long arm of chromosome 22. The disorder is characterized by cardiac abnormalities, abnormal facies, thymic aplasia, cleft palate, hypocalcemia (CATCH-22), and schizophrenia. Most cases are not inherited (de novo) but transmission from a parent carrying the 22q11 deletion is seen in about 7% of cases. Learn more
1p36     Deletion    Syndrome	1p	1 in 10,000	1p36 deletion syndrome (monosomy 1p36 syndrome) is characterized by a deletion on the short arm of chromosome 1. The disorder is characterized by dysmorphic craniofacial features, developmental delay, brain abnormalities, short feet, severe congenital heart defects, hypotonia, and brachy-/camptodactyly. Most cases are not inherited (de novo). Learn more
Angelman    Syndrome    and    Prader-Willi    Syndrome	15q	1 in 20,000	Both Angelman (AS), a maternal deletion, and Prader-Willi (PWS), a paternal deletion, syndromes are caused by deletions on the long arm of chromosome 15. AS is associated with delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. Most affected children have recurrent seizures and small head size. Delayed development becomes noticeable by the age of 6 to 12 months. PWS presents in infancy characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. In childhood, it is associated with an insatiable appetite. Learn more
Cri-du-chat    Syndrome	5p	1 in 50,000	Cri-du-chat syndrome (5p minus) is caused by a partial deletion of the short arm of chromosome 5. The disorder is characterized by intellectual disability, developmental delay, microcephaly, hypotonia, distinctive facial features, heart defects, and a characteristic cat-like cry. Most cases are not inherited (de novo), but transmission from an unaffected parent carrying a balanced translocation is seen in about 10% of cases. Learn more
Wolf-    Hirschhorn    Syndrome	4p	1 in 50,000	Wolf-Hirschhorn syndrome is caused by a deletion on the short arm of chromosome 4. It is characterized by distinct facial appearance, delayed growth and development, intellectual disability, and seizures. Most cases are not inherited (de novo). Learn more
Jacobsen    Syndrome	11q	1 in 100,000	Jacobsen syndrome is caused by a deletion on the long arm of chromosome 11. It is characterized by distinctive facial features, delayed development, including motor skills (such as sitting, standing, and walking) and speech. Most also have cognitive impairment and learning difficulties. Behavioral problems have been reported, including compulsive behavior (such as shredding paper), a short attention span, and easy distractibility. Many with Jacobsen syndrome have been diagnosed with attention deficit-hyperactivity disorder. Learn more
Langer-    Giedion    Syndrome	8q	Rare	Langer-Giedion syndrome is caused by a deletion on the long arm of chromosome 8. It is characterized by benign bone tumors (exostoses), short stature, and distinctive facial features. Most cases are not inherited (de novo). Exostoses may result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the exostoses. Learn more

 

Clear results with low non-reportable rates

Results are reported as positive or negative. Other laboratories report risk scores or “suspected” results that are not always clear. QNatal^® Advanced has very low non-reportable rates,^1-7 so you and your patients can count on test accuracy and avoid retesting or an unnecessary invasive procedure.
 

Questions? Call 1.866.GENE.INFO (1.866.436.3463)

References

1.  Palomaki GE, et al. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet Med. 2011; 13(11):913–20.
2.  Palomaki GE, 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; 14(3):296–305.
3.  Bianchi DW, et al. Genomewide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012; 119(5):890–901.
4.  Norton ME, et al. Noninvasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012; 207:137.e1–8.
5.  Pergament E, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol. 2014 August; 124(2 Part1):210–8.
6.  Zhao C, et al. Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. PLOS ONE. In press.
7.  McDonald-McGinn DM, et al. Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev. 2008; 14(1):69–74.
8.  Canick JA, et al. DNA sequencing of maternal plasma to identify Down Syndrome and other trisomies in multiple gestations. Prenat Diagn. 2012 August; 8(32):730–4.
9.  Mazloom AR, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn. 2013; 33:591–7.
10. Quest Diagnostics. Data on file.
11. Heilstedt HA, et al. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. 2003 May; 72(5):1200–12.
12. Lüdecke HJ. Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. Am J Hum Genet. 1991 Dec; 49(6):1197–206.
13. Maas NM, et al. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). J Med Genet. 2008 Feb; 45(2):71–80.
14. http://www.ncbi.nlm.nih.gov/books/NBK1523. (DiGeorge.) Accessed July 11, 2014.
15. http://www.ncbi.nlm.nih.gov/books/NBK1144. (Angelman.) Accessed July 11, 2014.
16. http://www.ncbi.nlm.nih.gov/books/NBK1330. (Prader-Willi.) Accessed July 11, 2014.
17. http://omim.org/entry/123450. (Cri-du-chat.) Accessed July 11, 2014.
18. Mattina T, et al. Jacobsen syndrome. Orphanet J Rare Dis. 2009 Mar 7; 4:9. doi: 10.1186/1750–1172-4-9.