Perinatal Tıp Vakfı Tarafından Önerilen Test
Results: 1,194 samples passed quality control thresholds: 1,186 were called at all five chromosomes; 8 were called at four chromosomes; 192 samples were of unknown gender. We observed two false positives (45,X and T18), and one false negative (45,X) in this cohort, for a total of 5,767/5,770 correct calls. Samples that failed to meet this threshold (5.8% for samples ≥10 weeks of gestation [n=1,141]; 10.7% for 9 weeks GA [n=56]) were typically of poor DNA quality. Correct identification of low quality samples enables redraw and retesting of the patient rather than reporting a low quality call with an increased risk of false negatives/positives. Gender is defined by presence or absence of the Y chromosome.1,2 Five samples of diandric triploidy identified as ‘triploidy or twins’; three samples of digynic triploidy identified as having abnormally low fetal fraction (<0.5%ile), correctly indicating triploidy.1,3 This methodology identified Klinefelter (47,XXY) and 47,XYY in a previous dataset with 100% sensitivity (4/4 and 1/1, respectively), and 100% specificity (332/332).4,5 This sample cohort was not analyzed for sex chromosome trisomies. Four mosaic samples were excluded from this cohort.
1 Nicolaides KH, Syngelaki A, Gil M, Atanasova V, Markova D. Prenat Diagn 2013;33:1-5.
2 Levy B; European Society of Human Reproduction and Embryology Meeting, July 7-10, 2013 in London, UK.
3 Nicolaides, KH; Fetal Medicine Foundation Meeting, June 23-27, 2013 in Marbella, Spain.
4 Zimmermann B, Hill M, Gemelos G, et al. Prenat Diagn. 2012;32:1233-1241.
5 Samango-Sprouse C, Banjevic M, Ryan A, et al. Prenat Diagn 2013;33:1-7.
6 Presented at ASHG (November 2012) 7 Zimmerman et al. Prenat Diag. 2012
Clinical experience and follow-up with large scale single-nucleotide polymorphismebased noninvasive prenatal aneuploidy testing.
Detection of triploid, molar, and vanishing-twin pregnancies by a single-nucleotide polymorphism-based non-invasive prenatal test
Single-Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in a High-Risk and Low-Risk Cohort
Published articles that relate to Panorama™
- The impact of maternal fetal plasma DNA fetal fraction on next generation sequencing test for common fetal aneuploidies. Canmick JA, Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE Prenat Diag. 2013 July: 33(7), 667-74. DOI: 10.1002/pd.4126
- Prenatal detection of fetal triploidy from cell-free DNA testing in maternal blood. Nicolaides KH, Syngelaki A, del Mar Gil M, Soledad Quezada M, Zinevich Y. Fetal Diagn Ther 2013;doi:10.1159/000355655 *Externally-blinded, 20K protocol, NATUS, first study specifically aimed at triploidy detection.
- Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Nicolaides KH, Syngelaki A, Gil M, Atanasova V, Markova D. Prenat Diagn2013;33:1-5. *Externally-blinded, first published account of cfDNA-based triploidy detection, 20K protocol, NATUS.
- SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy. Samango-Sprouse C, Banjevic M, Ryan A, et al. Prenat Diagn 2013; 33;643-9. *Sex chromosome aneuploidy detection, 20K protocol, NATUS.
- Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Zimmermann B, Hill M, Gemelos G, et al. Prenat Diagn 2012; 32:1233-41. *Proof-of-concept, 11K protocol, Parental Support.
- Non-invasive prenatal testing for whole chromosome abnormalities. Demko ZP, Zimmermann B, Rabinowitz M. J. Lab. Med. 2012;36:263-267. *Review.
- Cell-free fetal DNA and maternal serum analytes for monitoring embryonic and fetal status. Simpson JL. Fertil Steril 2013;99:1124–34. *Review.
- Non-invasive prenatal aneuploidy testing: technologies and clinical implications. Levy BL, Norwitz E. Med Lab Obs 2013. *Review.
Trizomi 21,18,13 ve Monozomi X, Triploidi ve ek olarak mikrodelesyon sendromları (22q11.2 deletion syndrome, 1p36 deletion syndrome, Cri-du-chat syndrome, Angelman syndrome, and Prader-Willi syndrome) için Fetal DNA Tarama Testi yaptırmak isteyenlerin aşağıda belirtilen hususları dikkatli olarak okuyup anladıktan sonra imzalamaları gereken bir izin belgesidir.
This consent form was created to help providers discuss different prenatal testing options for anueploidy and microdeletions with their patients. There is a patient signature line for acknowledgment of receipt and understanding of the information.
Panorama is a non-invasive prenatal screening test (NIPT) that uses advanced DNA technology to provide pregnant women with a more accurate idea of their risks for having a baby with certain types of genetic conditions. Sometimes, a patient’s result report may come back as “unable to report.” Attached are the reasons as to why this might happen.
Panorama™ now screens for the most common and severe microdeletion syndromes, in addition to its basic screen for T21, T18, T13, triploidy, and sex chromosome abnormalities.
The Panorama test is a non-invasive prenatal screening test (NIPT) that uses SNP technology to calculate pregnancy-specific risks for common chromosomal aneuploidies. In certain circumstances, a patient’s result may state “unable to report.” Attached are details to help with the understanding of possible causes of these types of results.
The Panorama screening test offers superior overall performance when detecting Trisomy 21, Trisomy 18, Trisomy 13, Monosomy X, and fetal sex. The low false-positive rate will reduce the number of unnecessary invasive diagnostic procedures when compared to biochemical and ultrasound screen-ing methods, and offers early reassurance. Similarly, the low false-negative rate means that more affected pregnancies will be detected earlier, allowing mothers/parents and clinicians more time to prepare.
Panorama, already established as a highly-accurate non-invasive screen for fetal whole-chromosome aneuploidies, has now been scientifically validated as a screening tool for the most common and severe microdeletions. As the incidence of microdeletion syndromes is not related to maternal age, it may be important to screen all pregnancies, not only those women of advanced maternal age. The initial panel of microdeletions includes 22q11.2 deletion (DiGeorge), 1p36, Cri-du-chat, Prader-Willi, and Angelman syndromes. This panel may expand in the future.
22q11.2 deletion syndrome is more common than cystic fibrosis (22q11.2 deletion syndrome occurs in approximately 1 in 2,000 live births) and can cause a wide variety of congenital anomalies as well as mild-to-moderate intellectual disabilities. Early childhood intervention can be critical for improving the quality of life of the child.
MFM Clinical Conundrum
Implications for 22q NIPT Screening for the MFM/Fetal Medicine Specialist
by Professor McDonald-McGinn and Dr. Susan Gross
Early medical and developmental intervention can be critical in 22q (aka 22q11.2 deletion syndrome, or DiGeorge syndrome).Occurring in approximately 1 in 2,000 live births, 22q is more common than cystic fibrosis. However, until recently, it was rare for a fetus to be diagnosed with 22q before birth.In this webinar, the presenters discuss the importance of the early diagnosis of 22q in developing a lifelong treatment plan.
Learn about Non-Invasive Prenatal Screening Test (NIPT)
By Susan Gross, MD, FRCSC, FACOG, FACMG
With New Microdeletion Panel Option
In this recorded webinar, Dr. Gross presented the latest data on the Panorama NIPT and discussed: who might benefit from NIPT, why screen for microdeletions and how the information from positive tests for specific aneuploidies and microdeletions (such as XXY and 22q11.2 deletion) can improve care of the patient. Screening with Panorama and subsequent diagnostic confirmation may help guide the care of the child and lead to early intervention for the best possible outcome.
NIPT and Sex Chromosome Screening
Early Detection Means Early Treatment for Children with Developmental Delay due to X and Y Chromosome Aneuploidies
by Carole Samango-Sprouse, Ed.D.
In this webinar Dr. Samango-Sprouse discusses the prevalence of X and Y chromosomal disorders, the high accuracy of Panorama™ in screening for sex chromosome aneuploidies, and the potential value of early intervention in improving the child’s quality of life.
SNP Method for NIPT
By Professor Kypros Nicolaides
NIPT aneuploidy and microdeletion screening, including screening for 22q
In this webinar Professor Kypros Nicolaides (King’s College, London University) reviews the 2014 clinical data on Panorama™, a SNP-based NIPT. The accuracy of this technology in screening for aneuploidies and microdeletions is discussed, with a focus on the importance of the need for early identification of 22q11.2 deletion syndrome (aka 22q, VCFS or DiGeorge syndrome).
Clinical Outcomes Study
By Dr. Peter Benn
Clinical Outcome Data
Dr. Benn presents the details on the largest ever NIPT clinical outcomes study with in-depth follow-up on 17,885 NIPT samples tested for trisomy 21, trisomy 18, trisomy 13, monosomy X, and in a subset of cases other sex chromosome aneuploidies (XXX, XXY, XYY), triploidy, and fetal sex. The results showed equivalent performance in low-risk and high-risk women. In addition there were no reports of incorrect fetal sex calls from >24,000 patients who requested fetal sex information and received low-risk reports.
2014 Clinical Trial Webinar
By Susan Gross, MD, FRCSC, FACOG, FACMG and Melissa Stosic, MS, CGC
Your questions answered
Our recent webinar was a review of the article about the Panorama™ clinical trial: “Single Nucleotide Polymorphism-Based Noninvasive Prenatal Screening in a High-Risk and Low-Risk Cohort” by E Pergament, et al. This was published in Obstetrics & Gynecology (the Green Journal) August 2014. This presentation was followed by a Q/A covering questions sent in by doctors from around the United States.
22q – What can you do?
By Donna McDonald-McGinn
Understanding this microdeletion syndrome
Did you know that 22q11.2 deletion syndrome (aka 22q or DiGeorge syndrome) is more common than cystic fibrosis and can cause a variety of mild to severe congenital anomalies and intellectual disabilities? Did you also know that prenatal diagnosis and early treatment may help prevent some of the more severe outcomes of this condition? Please view this webinar to learn more about this condition, and how you can help your patients and their newborns.
The Importance of Microdeletions
By Ronald Wapner, MD
Learn about the current research regarding identifying microdeletions
The level of prenatal care available to patients has been significantly enhanced with the new capability of the Panorama™ non-invasive prenatal test to screen for microdeletions. Watch this informative two-part webcast to learn about:
- Microdeletions, including what and how many there are, their significance, and the importance of detecting them.
- The microdeletion validation that demonstrates Panorama test’s high accuracy in screening for 5 microdeletion syndromes.
The Explosive Growth of NIPT: Why You Should Care About Fetal Fraction
by Brynn Levy, M.Sc. (Med). Ph.D., FACMG
Get the Facts about Fetal Fraction and NIPT Accuracy
New research reveals that low fetal fraction has an adverse effect on the accuracy of non-invasive prenatal screening tests (NIPTs) that use the traditional counting method. This webinar explains how low fetal fraction can trigger false negatives and why the accuracy of certain testing methods is compromised. Because most labs do not even report fetal fraction data, many doctors have not been made aware of the importance of fetal fraction as a factor in test results.
Watch this webinar to learn the facts about fetal fraction, how vastly the testing methods can differ on this important issue, and why the SNP-based method is able to maintain its accuracy even at low fetal fractions.