Illumina, Inc. · NASDAQ:ILMN
Illumina — Technical Presentation (May 2015)
21 slides from Illumina's technical presentation, May 2015
Slide 1: The value of non-invasive prenatal testing (NIPT)
The value of non-invasive prenatal testing (NIPT). A supplement for a Genetic Counselor’s flipbook
Slide 2: NIPTs use cell-free DNA
NIPTs use cell-free DNA. Maternal blood sample Maternal cfDNA Fetal cfDNA
Slide 3: NIPTs use cell-free DNA
NIPTs use cell-free DNA. • The maternal blood sample contains mixture of both maternal and fetal cfDNA. • Both maternal and fetal fragments are counted and analyzed in NIPT. • Aneuploidies are detected by comparing the amount of chromosomal material against a set of reference chromosomes.
Slide 4: MPS — a deeper approach to sequencing
MPS — a deeper approach to sequencing. Maternal and fetal cfDNA Alignment and counting Unaffected Affected pregnancy pregnancy cfDNA sequenced via Massively Parallel Sequencing (MPS)
Slide 5: MPS — a deeper approach to sequencing
MPS — a deeper approach to sequencing. • Maternal blood sample contains a mixture of both maternal and fetal cfDNA. • MPS, or Massively Parallel Sequencing, analyzes cfDNA fragments from a maternal blood sample. • Sequences are aligned to genome to identify the chromosome origin of the fragment. • A
Slide 6: Detecting fetal chromosome abnormalities
Detecting fetal chromosome abnormalities. Chromosomes 1 2 3 4 5 6 7 8 9 10 11 12 Trisomy 13 13 14 15 16 17 18 or Trisomy 18 19 20 21 22 XX-female XY-male Trisomy 21
Slide 7: Detecting fetal chromosome abnormalities
Detecting fetal chromosome abnormalities. • The verifi® prenatal test detects trisomies 21, 18, and 13 in both singleton and twin pregnancies.
Slide 8: Detecting sex chromosome abnormalities
Detecting sex chromosome abnormalities. Chromosomes 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 or 19 20 21 22 XX-female XY-male XXX Monosomy X XXY XYY
Slide 9: Detecting sex chromosome abnormalities
Detecting sex chromosome abnormalities. • In singleton pregnancies, sex chromosome aneuploidies can also be detected. This test is optional based on patient and physician preference. – Sex chromosome aneuploidies detected include 45,X, 47,XXX, 47,XXY, 47,XYY. • In twin pregnancies, the presence or a
Slide 10: How the verifi test is reported
How the verifi® test is reported. Results Aneuploidy detected Aneuploidy suspected No aneuploidy detected
Slide 11: Test results
Test results. There are three possible results for the autosomes: • Aneuploidy Detected, Aneuploidy Suspected (borderline value), Aneuploidy Not Detected. There are two possible results for the sex chromosome analysis in singletons: • Aneuploidy Detected and Aneuploidy Not Detected. – If aneuploidy
Slide 12: Typical prenatal testing sequence
Typical prenatal testing sequence. Patient elects NO prenatal testing YES Serum Screening Diagnostic NIPT CVS/Amniocentesis (non-invasive) (invasive) Is the serum screen Is the verifi test result YES result positive? aneuploidy detected YES or suspected? NO NO Continue with pregnancy Continue with p
Slide 13: Typical prenatal testing sequence
Typical prenatal testing sequence. Pre-test Counseling Considerations • Aneuploidy testing should be an informed choice. • The verifi prenatal test screens for aneuploidies of chromosomes 21, 18 and 13. Sex chromosome testing is optional. • Any test offering should be based on clinical context. • CV
Slide 14: NIPT profile: the verifi test by the numbers
NIPT profile: the verifi® test by the numbers. 1 vial of blood 0.1% lowest test failure rate 10 As early as weeks into pregnancy Tests for the 3 most common autosomal aneuploidies and additional sex aneuploidies Results in just business days 2-4 What you can’t put a number on – the reassurance of kn
Slide 15: How is the verifi prenatal test different?
How is the verifi® prenatal test different? • The verifi® test is an easy, in-office blood test – only one tube of blood is required. • It can be performed as early as 10 weeks in pregnancy. • It tests for trisomies 21, 18 and 13 and has an option for sex chromosome aneuploidies (Monosomy X, XXX, XX
Slide 16: What is mosaicism?
What is mosaicism? Cell division Mosaic tissue Normal cells Cells with genetic change
Slide 17: What is mosaicism?
What is mosaicism? • Mosaicism is a biological phenomenon which results from the presence of cells with differing genetic compositions in the same individual. It usually occurs during the process of mitotic cell division. • Mosaicism can be an underlying biological cause of discordant NIPT results.
Slide 18: Types of mosaicism
Types of mosaicism. Disomy Trisomy Generalized Confined placental Fetal mosaicism mosaicism (CPM) mosaicism
Slide 19: Types of mosaicism
Types of mosaicism. There are three types of mosaicism: • Generalized mosaicism – Presence of two or more karyotypically different cell lines in both the placenta and the fetus. In cases of generalized mosaicism, there is a possibility of a false positive or a false negative NIPT result depending on
Slide 20: Confined Placental Mosaicism
Confined Placental Mosaicism. Normal chorionic villus architecture Laboratory techniques used for Chorionic Villus Sampling (CVS) Cytotrophoblastic cell column CVS Syncytiotrophoblast Mesenchymal Cytotrophoblast Mesenchymal core core suspension Cytotrophoblast Villus Direct culture preparation
Slide 21: Confined Placental Mosaicism (CPM)
Confined Placental Mosaicism (CPM). • Confined placental mosaicism (CPM) is defined as the presence of two or more karyotypically different cell lines that are confined to the placenta and not present in the fetus. • The cfDNA that is analyzed in NIPT arises from the cytotrophoblasts; thus an NIPT r