The value of non-invasive prenatal testing (NIPT). A supplement for a Genetic Counselor s flipbook
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1 The value of non-invasive prenatal testing (NIPT). A supplement for a Genetic Counselor s flipbook
2 NIPTs use cell-free DNA. Maternal blood sample Maternal cfdna Fetal cfdna
3 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.
4 MPS a deeper approach to sequencing. Maternal and fetal cfdna Alignment and counting Unaffected pregnancy Affected pregnancy cfdna sequenced via Massively Parallel Sequencing (MPS)
5 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. Aneuploidies are detected by comparing the amount of chromosomal material for a specific chromosome in a patient sample against a set of reference chromosomes.
6 Detecting fetal chromosome abnormalities. Chromosomes Trisomy or Trisomy XX-female XY-male Trisomy 21
7 Detecting fetal chromosome abnormalities. The verifi prenatal test detects trisomies 21, 18, and 13 in both singleton and twin pregnancies.
8 Detecting sex chromosome abnormalities. Chromosomes or XX-female XY-male XXX Monosomy X XXY XYY
9 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 absence of Y is detected. This test is optional based on patient and physician preference.
10 How the verifi test is reported. Results Aneuploidy detected Aneuploidy suspected No aneuploidy detected
11 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 is not detected, fetal sex will be reported. For twin pregnancies, the presence or absence of Y will be reported. Patients who receive an Aneuploidy Detected or Suspected result should be offered a follow-up discussion of results and options of invasive testing (CVS or amniocentesis) for confirmation.
12 Typical prenatal testing sequence. Patient elects prenatal testing NO YES Serum Screening Diagnostic NIPT (non-invasive) CVS/Amniocentesis (invasive) YES Is the serum screen result positive? Is the verifi test result aneuploidy detected or suspected? YES NO NO Continue with pregnancy management according to your practice s protocols. Continue with pregnancy management according to your practice s protocols. Continue with pregnancy management according to your practice s protocols.
13 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. CVS and amniocentesis remain options for all pregnant women. Post-test Counseling Considerations 3 possible results for each chromosome tested. No Aneuploidy Detected This result is reassuring but does not ensure an unaffected pregnancy. Aneuploidy Suspected/Borderline Value This result is suggestive of aneuploidy. There is a small possibility that the results might not reflect the chromosomes of the fetus but may reflect changes to the placenta or the patient. Aneuploidy Detected This result is consistent with aneuploidy. There is a small possibility that the results might not reflect the chromosomes of the fetus but may reflect changes to the placenta or the patient. Genetic counseling and CVS/amniocentesis are recommended for Suspected and Detected results. Open neural tube defect screening is not a part of NIPT testing and should be offered separately. All results should be reviewed in the context of the clinical, medical, and family history.
14 NIPT profile: the verifi test by the numbers. 1vial of blood 0.1% lowest test failure rate As early as 10 weeks into pregnancy 3 Tests for the most common autosomal aneuploidies and additional sex aneuploidies Results in just2-4 business days What you can t put a number on the reassurance of knowing
15 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, XXY, XYY). Test reports are usually available in 2 4 business days after sample receipt. It has the lowest failure rate among NIPTs (0.1%). Because of this, the verifi test is able to provide reliable answers about the most common chromosome abnormalities.
16 What is mosaicism? Cell division Mosaic tissue Normal cells Cells with genetic change
17 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.
18 Types of mosaicism. Disomy Trisomy Generalized mosaicism Confined placental mosaicism (CPM) Fetal mosaicism
19 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 the origin of the cfdna. Confined placental mosaicism Presence of two or more karyotypically different cell lines that are confined to the placenta and not present in the fetus. In cases of confined placental mosaicism, there is a possibility of a false positive NIPT result. Fetal mosaicism Presence of two or more karyotypically different cell lines that are present in the fetus but not present in the placenta. In cases of fetal mosaicism, there is a possibility of a false negative NIPT result.
20 Confined Placental Mosaicism. Normal chorionic villus architecture Cytotrophoblastic cell column Laboratory techniques used for Chorionic Villus Sampling (CVS) CVS Syncytiotrophoblast Mesenchymal core Cytotrophoblast Mesenchymal core Cytotrophoblast suspension Villus culture Direct preparation
21 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 result is most similar to a CVS direct preparation result. Type 1 CPM Mosaicism is confined to trophoblastic cells. Type 2 CPM Mosaicism is confined to the cells from chorionic villus stroma. Type 3 CPM Mosaicism is present in both: trophoblastic and stroma cells. Type 1 and Type 3 CPM could result in false positive NIPT results Illumina, Inc. All rights reserved. Illumina and verifi are trademarks of Illumina, Inc. and/or its affiliate(s) in the U.S. and/or other countries. PRESENTATION-0098 Rev C
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