Maternit GENOME

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Sequenom Laboratories Lab Report 3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266 GENOME CLIA #: 05D2015356 CAP #: 7527138 FINAL REPORT Ordering Provider: XXXX, XXXX Patient: XXXX, XXXX Provider Location: XXXXX DOB: XX/XX/XXXX Provider Phone: 555-555-5555 Patient ID: 12345-01234 Date Ordered: XX/XX/XXXX Specimen: 0123456789 Date Collected: XX/XX/XXXX Referral Clinician: XXXX, XXXX Date Received: XX/XX/XXXX Lab Director: XXXX, XXXX Order ID: 12345-01234 Date Reported: XX/XX/XXXX 00:00 PM PT Positive Test Result Trisomy 7 Lab Director’s Comments This specimen showed an increased representation of chromosome 7, suggestive of trisomy 7. Genetic counseling (CPM) is likely. Chromosome 7 is known to be imprinted. Therefore, subsequent trisomy rescueE in fetal tissue carries event are desired. Please refer to the “Performance” and “Limitations of the Test” sections of this laboratory report for additional information. Fetal Fraction: 7% L Chr7Chr7 P Trisomy Trisomy q21.1 q21.3 q31.1 q31.3 q33 q35 p22 p15.3 p15.1 p13 p11.2 q11.1 q11.22 q11.23 q21.2 q22 q31.2 q32 q34 q36 p21 p15.2 p14 p12 p11.1 q11.21 M An approximate 159.00Mb gain of chromosomeA 7 material was observed, suggestive of trisomy 7. S Sequenom® and MaterniT™ are trademarks of Sequenom. ©2015 Sequenom Laboratories. 34-40500R1.0 0715 MaterniT™ GENOME Lab Report Page 1 of 4 XXXX, XXXX Order ID: 12345-01234 Sequenom Laboratories Lab Report 3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266 GENOME CLIA #: 05D2015356 CAP #: 7527138 FINAL REPORT Ordering Provider: XXXXX, XXXXX Patient: XXXXX, XXXXX Provider Location: XXXXX DOB: XX/XX/XXXX Provider Phone: 555-555-5555 Patient ID: 12345-01234 Date Ordered: XX/XX/XXXX Specimen: XXXXX Date Collected: XX/XX/XXXX Referral Clinician: XXXXX, XXXXX Date Received: XX/XX/XXXX Lab Director: XXXXX, XXXXX Order ID: 12345-01234 Date Reported: XX/XX/XXXX 1:00 PM PT Result Table Content Result AUTOSOMAL ANEUPLOIDIES Trisomy 21 (Down syndrome) Negative Trisomy 18 (Edwards syndrome) Negative Trisomy 13 (Patau syndrome) Negative Other autosomal aneuploidies Positive SEX CHROMOSOME ANEUPLOIDIES E Fetal sex Consistent with female Monosomy X (Turner syndrome) Negative XYY (Jacobs syndrome) L Negative XXY (Klinefelter syndrome) Negative XXX (Triple X syndrome) Negative GENOME-WIDE COPY NUMBER VARIANTS ≥7 MbP Gains/Losses ≥7 Mb Negative SELECT MICRODELETIONS 22q11 deletion (associated with DiGeorge syndrome) Negative 15q11 deletion (associated with Prader-Willi / Angelman syndrome) Negative 11q23 deletion (associated with Jacobsen syndrome) Negative 8q24 deletion (associated with Langer-Giedion syndrome) M Negative 5p15 deletion (associated with Cri-du-chat syndrome) Negative 4p16 deletion (associated with Wolf-Hirschhorn syndrome) Negative 1p36 deletion syndrome A Negative S Sequenom® and MaterniT™ are trademarks of Sequenom. ©2015 Sequenom Laboratories. 34-40500R1.0 0715 MaterniT™ GENOME Lab Report Page 2 of 4 XXXXX, XXXXX Order ID: 12345-01234.

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Maternit GENOME
Sequenom Laboratories Lab Report 3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266 GENOME CLIA #: 05D2015356 CAP #: 7527138 FINAL REPORT Ordering Provider: XXXX, XXXX Patient: XXXX, XXXX Provider Location: XXXXX DOB: XX/XX/XXXX Provider Phone: 555-555-5555 Patient ID: 12345-01234 Date Ordered: XX/XX/XXXX Specimen: 0123456789 Date Collected: XX/XX/XXXX Referral Clinician: XXXX, XXXX Date Received: XX/XX/XXXX Lab Director: XXXX, XXXX Order ID: 12345-01234 Date Reported: XX/XX/XXXX 00:00 PM PT Test Result Negative Fetal sex consistent with female Laboratory Director’s Comments Genome-wide analysis of this specimen did not detect gains or losses of chromosomal material suggestive of whole chromosome aneuploidies, subchromosomal duplications or deletions ≥7 Mb, or select microdeletions ranging in size below 7Mb. A negative result does not ensure an unaffected pregnancy. Please refer to the “Performance” and “Limitations of the Test” sections of this laboratory report for additional information. E Fetal Fraction: 12% L Result Table Content Result AUTOSOMAL ANEUPLOIDIES Trisomy 21 (Down syndrome) P Negative Trisomy 18 (Edwards syndrome) Negative Trisomy 13 (Patau syndrome) Negative Other autosomal aneuploidies Negative SEX CHROMOSOME ANEUPLOIDIES Fetal sex M Consistent with female Monosomy X (Turner syndrome) Negative XYY (Jacobs syndrome) Negative XXY (Klinefelter syndrome) Negative XXX (Triple X Asyndrome) Negative GENOME-WIDE COPY NUMBER VARIANTS ≥7 Mb Gains/Losses ≥7 Mb Negative SELECT MICRODELETIONS 22q11 deletion (associated with DiGeorgeS syndrome) Negative 15q11 deletion (associated with Prader-Willi / Angelman syndrome) Negative 11q23 deletion (associated with Jacobsen syndrome) Negative 8q24 deletion (associated with Langer-Giedion syndrome) Negative 5p15 deletion (associated with Cri-du-chat syndrome) Negative 4p16 deletion (associated with Wolf-Hirschhorn syndrome) Negative 1p36 deletion syndrome Negative Sequenom® and MaterniT™ are trademarks of Sequenom.
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Cell‐Free DNA Screening in Twin Pregnancies
Received: 22 January 2020 Revised: 11 July 2020 Accepted: 13 July 2020 DOI: 10.1002/pd.5797 ORIGINAL ARTICLE Cell-free DNA screening in twin pregnancies: A more accurate and reliable screening tool Jason Chibuk1 | Jill Rafalko1 | Theresa Boomer2 | Ron McCullough2 | Graham McLennan2 | Philip Wyatt3 | Eyad Almasri2 1Sequenom Inc., A Wholly Owned Subsidiary of Laboratory Corporation of America Abstract Holdings, San Diego, California Objective: Outcome data from cell-free DNA (cfDNA) screening in twin gestations 2 Sequenom Laboratories, A Wholly Owned are limited. This study adds an appreciable number of confirmed outcomes to the lit- Subsidiary of Laboratory Corporation of America Holdings, San Diego, California erature, and assesses performance of cfDNA screening in twins over a 4.5-year 3Department of Biochemical Genetics, period at one large clinical laboratory. Integrated Genetics, a member of the LabCorp Specialty Testing Group, Santa Fe, New Method: Prenatal cytogenetic and SNP microarray results were cross-referenced Mexico with cfDNA results for twin pregnancies, yielding 422 matched cases. Using diagnos- Correspondence tic results as truth, performance of cfDNA screening in this population was assessed. Jill Rafalko, Sequenom Inc., A Wholly Owned Results: Of the 422 twin pregnancies with both cfDNA and diagnostic results, 3 spec- Subsidiary of Laboratory Corporation of America Holdings, 3400 Computer Drive, imens failed amniocyte analysis, and 48 samples (11.5%) were nonreportable from Westborough, MA, 01581. the initial cfDNA draw. Analysis of the 371 reportable samples demonstrated a col- Email: [email protected] lective sensitivity of 98.7% and specificity of 93.2% for trisomies 21/18/13. Positive predictive values (PPVs) in this study population, which is enriched for aneuploidy, were 78.7%, 84.6%, and 66.7% for trisomy 21, 18, and 13, respectively.
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In Re Sequenom, Inc. Stockholder Litigation 16-CV-02054-Consolidated Amended Class Action Complaint
Case 3:16-cv-02054-JAH-BLM Document 54 Filed 07/24/17 PageID.915 Page 1 of 59 1 ROBBINS GELLER RUDMAN & DOWD LLP 2 MICHAEL J. DOWD (135628) RANDALL J. BARON (150796) 3 DAVID T. WISSBROECKER (243867) DAVID A. KNOTTS (235338) 4 655 West Broadway, Suite 1900 San Diego, CA 92101 5 Telephone: 619/231-1058 619/231-7423 (fax) 6 [email protected] [email protected] 7 [email protected] [email protected] 8 Lead Counsel for Plaintiff 9 [Additional counsel appear on signature page.] 10 UNITED STATES DISTRICT COURT 11 SOUTHERN DISTRICT OF CALIFORNIA 12 In re SEQUENOM, INC. ) Lead Case No. 16-cv-02054-JAH-BLM 13 STOCKHOLDER LITIGATION ) ) CLASS ACTION 14 ) ) 15 CONSOLIDATED AMENDED CLASS This Document Relates To: ) ACTION COMPLAINT ) 16 ) ALL ACTIONS. ) 17 ) JURY TRIAL DEMAND 18 19 20 21 22 23 24 25 26 27 28 1272847_2 Case 3:16-cv-02054-JAH-BLM Document 54 Filed 07/24/17 PageID.916 Page 2 of 59 1 SUBSTANTIVE ALLEGATIONS 2 Lead Plaintiff James Reilly (“Plaintiff”), by the undersigned attorneys, 3 individually and on behalf of all others similarly situated, respectfully brings this 4 direct class action complaint for violations of §§14(e) and 20(a) of the Securities 5 Exchange Act of 1934 (the “Exchange Act”) against the herein named defendants and 6 allege the following: 7 SUMMARY OF THE ACTION 8 1. This is a stockholder class action brought on behalf of the former holders 9 of Sequenom, Inc. (“Sequenom” or the “Company”) common stock against Sequenom 10 and its Board of Directors (the “Board” or the “Individual Defendants”).
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Mixed Messages: the Intersection of Prenatal Genetic Testing and Abortion
\\jciprod01\productn\H\HOW\55-3\HOW309.txt unknown Seq: 1 25-JUL-12 12:51 Mixed Messages: The Intersection of Prenatal Genetic Testing and Abortion RACHEL REBOUCHE´ AND KAREN ROTHENBERG* INTRODUCTION ............................................. 983 R I. THE REGULATION OF PRENATAL GENETIC TESTING AND SCREENING ......................... 987 R A. Current Testing and Screening ...................... 987 R B. Federal Regulation and the ACA ................... 992 R C. Examples of State Regulation ...................... 996 R II. THE DECLINING AVAILABILITY OF ABORTION SERVICES ............................................. 998 R A. Funding ............................................. 999 R B. Conditioning Patient Choice ........................ 1001 R C. Regulations of Facilities and Providers ............. 1002 R D. Refusals or Conscience Clauses ..................... 1004 R III. IMPLICATIONS AND CONSEQUENCES OF THE MIXED MESSAGE .................................... 1005 R A. Testing and Abortion as Health Care ............... 1006 R B. The Integrity of the Medical Profession ............ 1009 R C. Scope and Purposes of Information for Patients .... 1013 R D. Pregnant Women and Decision-Making ............. 1019 R CONCLUSION ................................................ 1022 R INTRODUCTION In 2005, advocates and health professionals across the country filed amicus briefs in Gonzales v. Carhart, a case before the Supreme * Assistant Professor of Law, University of Florida Levin College of Law; Marjorie Cook Professor of Law, University of
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Genetic Testing for Reproductive Carrier Screening and Prenatal Diagnosis
Medical Coverage Policy Effective Date ............................................. 7/15/2021 Next Review Date ......................................12/15/2021 Coverage Policy Number .................................. 0514 Genetic Testing for Reproductive Carrier Screening and Prenatal Diagnosis Table of Contents Related Coverage Resources Overview ........................................................ 2 Genetics Coverage Policy ............................................ 2 Genetic Testing Collateral File Genetic Counseling ...................................... 2 Recurrent Pregnancy Loss: Diagnosis and Treatment Germline Carrier Testing for Familial Infertility Services Disease .......................................................... 3 Preimplantation Genetic Testing of an Embryo........................................................... 4 Preimplantation Genetic Testing (PGT-A) .. 5 Sequencing–Based Non-Invasive Prenatal Testing (NIPT) ............................................... 5 Invasive Prenatal Testing of a Fetus .......... 6 Germline Mutation Reproductive Genetic Testing for Recurrent Pregnancy Loss ...... 6 Germline Mutation Reproductive Genetic Testing for Infertility ..................................... 7 General Background .................................... 8 Genetic Counseling ...................................... 8 Germline Genetic Testing ............................ 8 Carrier Testing for Familial Disease ........... 8 Preimplantation Genetic Testing of an Embryo..........................................................
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Impact of Mosaicism Ratio on Positive Predictive Value of Cfdna Screening
Received: 4 June 2020 Revised: 25 September 2020 Accepted: 1 October 2020 DOI: 10.1002/pd.5863 ORIGINAL ARTICLE Impact of mosaicism ratio on positive predictive value of cfDNA screening Jill M. Rafalko1 | Samantha Caldwell2 | John Tynan2 | Eyad Almasri2 | Vivian Weinblatt1 | Ron McCullough2 1Laboratory Corporation of America Holdings, Integrated Genetics, Westborough, Abstract Massachusetts Objective: To examine the relationship between the fraction of cell-free DNA 2 Laboratory Corporation of America Holdings, (cfDNA) affected by aneuploidy compared to the overall fetal fraction of a prenatal Sequenom Center for Molecular Medicine, LLC, San Diego, California screening specimen and its effect on positive predictive value (PPV). Method: CfDNA specimens positive for trisomy 13, 18, and 21 with diagnostic out- Correspondence Jill M. Rafalko, Integrated Genetics, 3400 comes were analysed over a 22-month period in one clinical laboratory. For each Computer Dr, Westborough, MA 01581. positive specimen, a “mosaicism ratio” (MR) was calculated by dividing the fraction of Email: [email protected] cfDNA affected by aneuploidy by the overall fetal fraction of the specimen. PPVs were calculated and analyzed based on various MR ranges. Results: Trisomy 13 was the aneuploidy most commonly seen in mosaic form, followed by trisomy 18 and trisomy 21. Significant differences in positive predictive values were noted for all three trisomies between samples with an MR in the “mosaic” versus “non-mosaic” range, as well as between results classified as “low- mosaic” versus “high-mosaic.” Conclusion: PPVs may be influenced, in part, by the mosaicism ratio associated with a particular result. The data generated from this study may be useful in providing more personalized risk assessments for patients with positive cfDNA screening results.
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Class Action Complaint 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17
1 2 3 4 5 6 7 UNITED STATES DISTRICT COURT 8 SOUTHERN DISTRICT OF CALIFORNIA 9 ) 10 MARILYN PATRY, Individually and On Behalf of ) All Others Similarly Situated, ) 11 ) CIVIL ACTION NO. ) 12 Plaintiff, ) ) 13 vs. ) CLASS ACTION COMPLAINT ) 14 ) ) 15 SEQUENOM, INC., HARRY STYLLI, PAUL W. HAWRAN, ALLAN T. BOMBARD, CHARLES ) JURY TRIAL DEMANDED ) 16 R. CANTOR and ELIZABETH DRAGON, ) ) 17 Defendants. ) ) 18 Plaintiff, Marilyn Patry ("Plaintiff"), alleges the following based upon the investigation by 19 Plaintiff's counsel, which included, among other things, a review of the defendants' public 20 21 documents, conference calls and announcements made by defendants, United States Securities and 22 Exchange Commission ("SEC") filings, wire and press releases published by and regarding 23 Sequenom, Inc. ("Sequenom" or the "Company"), securities analysts' reports and advisories about 24 the Company, and information readily available on the Internet, and Plaintiff believes that substantial 25 additional evidentiary support will exist for the allegations set forth herein after a reasonable 26 opportunity for discovery. 27 28 - 1 - CLASS ACTION COMPLAINT 1 NATURE OF THE ACTION AND OVERVIEW 2 1. This is a federal class action on behalf of purchasers of the securities of Sequenom, 3 who purchased or otherwise acquired Sequenom securities between June 4, 2008 and April 29, 2009, 4 inclusive (the "Class Period"), seeking to pursue remedies the Securities Exchange Act of 1934 (the 5 "Exchange Act"). 6 2. Sequenom is engaged in genetics analysis and diagnostic testing. The Company is 7 8 involved in the research, development and commercialization of non-invasive molecular diagnostic 9 tests for prenatal genetic diseases and disorders, infectious diseases, oncology, and other diseases 10 and disorders.
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NIPT) to Average Risk: Maternit® 21 PLUS Performance in the Average Risk Vs
Expanding Noninvasive Prenatal Testing (NIPT) to Average Risk: MaterniT® 21 PLUS Performance in the Average Risk vs. High Risk Population Samantha Caldwell, Jenna Wardrop, Theresa Boomer, Sidra Boshes, Eyad Almasri, Ron McCullough Sequenom Laboratories®, San Diego, CA INTRODUCTION RESULTS CONCLUSION The use of noninvasive prenatal Over 16,000 average risk MaterniT® 21 testing (NIPT) as a screening PLUS tests have been ordered. Table 1. Demographics Table 2. Positivity Rate tool for fetal aneuploidy has While the positivity rate in the average risk group is lower than in high risk been well established in high Average Risk High Risk Condition Average Risk High Risk risk pregnancies. More recently, (0.49% vs. 2.01%), it is still above what NIPT has been expanded to Number of Samples 16,585 >400,000* Trisomy 21 0.31% 1.4% would be expected given aneuploidy incidence in women <35 years old. the average risk obstetric Average Maternal Age (years) 30.3 35.1 Trisomy 18 0.08% 0.42% population, which is reflected This is most likely due to the skewed Average Gestational Age 12 weeks, 5 days 14 weeks, 5 days in recent ACMG guidelines1. Trisomy 13 0.10% 0.19% maternal age distribution observed in Median Fetal Fraction 9.72% 10.3% this average risk cohort (see image 1). Here we compare the Cumulative Positivity Rate 0.49% 2.01% laboratory and clinical Non Reportable Rate of Common Aneuploidies Overall, performance in the average 0.35% 0.60% performance of >16,000 (Technical) risk cohort much resembles that seen average risk MaterniT® 21 Non Reportable Rate (QNS)** 0.54% 0.75% in high risk pregnancies.
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Noninvasive Prenatal Detection of Sex Chromosomal Aneuploidies by Sequencing Circulating Cell-Free DNA from Maternal Plasma † † Amin R
DOI: 10.1002/pd.4127 ORIGINAL ARTICLE Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma † † Amin R. Mazloom1 , Zeljko Dzakula1 , Paul Oeth1, Huiquan Wang1, Taylor Jensen1, John Tynan1, Ron McCullough1, Juan-Sebastian Saldivar1, Mathias Ehrich2, Dirk van den Boom2, Allan T. Bombard1,2, Margo Maeder2, Graham McLennan2, Wendy Meschino3, Glenn E. Palomaki4, Jacob A. Canick4 and Cosmin Deciu1* 1Sequenom Center for Molecular Medicine, San Diego, CA, USA 2Sequenom Inc., San Diego, CA, USA 3Department of Genetics, North York General Hospital, Toronto, ON, Canada 4Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women & Infants Hospital, Alpert Medical Schoolof Brown University, Providence, RI, USA *Correspondence to: Cosmin Deciu. E-mail: [email protected] †These authors contributed equally to this work. ABSTRACT Objective Whole-genome sequencing of circulating cell free (ccf) DNA from maternal plasma has enabled noninvasive prenatal testing for common autosomal aneuploidies. The purpose of this study was to extend the detection to include common sex chromosome aneuploidies (SCAs): [47,XXX], [45,X], [47,XXY], and [47,XYY] syndromes. Method Massively parallel sequencing was performed on ccf DNA isolated from the plasma of 1564 pregnant women with known fetal karyotype. A classiﬁcation algorithm for SCA detection was constructed and trained on this cohort. Another study of 411 maternal samples from women with blinded-to-laboratory fetal karyotypes was then performed to determine the accuracy of the classiﬁcation algorithm. Results In the training cohort, the new algorithm had a detection rate (DR) of 100% (95%CI: 82.3%, 100%), a false positive rate (FPR) of 0.1% (95%CI: 0%, 0.3%), and nonreportable rate of 6% (95%CI: 4.9%, 7.4%) for SCA determination.
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Cell Free Fetal DNA Testing Medical Policy
Cell Free Fetal DNA Testing Medical Policy Service: Cell-Free Fetal DNA Testing, Expanded Non-invasive Prenatal Testing Panels, NIPT Panels, Maternal Cell Free DNA tests for Fetal Aneuploidies: MaterniT21Plus (Sequenom), Prequel Screen (Myriad), Panorama (Natera), Harmony (Ariosa Laboratories), Verify (Illumina), QNatal Advanced (Quest) PUM 250-0038 Medical Policy Committee Approval 07/29/2021 Effective Date 12/01/2021 Prior Authorization Needed Yes Description: Aneuploidy is an abnormal number of chromosomes. Trisomy syndromes are aneuploidies involving 3 copies of chromosomes which can result in multiple congenital abnormalities, morbidities, and fetal demise. The most common aneuploidy is trisomy 21 (Down Syndrome); while Trisomy 18 (Edwards Syndrome) and trisomy 13 (Patau Syndrome) occur much less frequently. Traditional/conventional methods of screening for aneuploidy during early pregnancy include combinations of maternal serum blood tests [e.g. Beta-HCG levels and pregnancy- associated plasma protein-A (PAPP-A), AFP, uE3, inhibin-A] and ultrasound (including fetal nuchal translucency) performed at specific times during the first two trimesters. In mid-August 2020, the American College of Obstetricians and Gynecologists (ACOG) and the Society of Maternal and Fetal Medicine (SMFM) released Practice bulletin 226: Screening for Fetal Chromosomal Abnormalities. The Practice Bulletin states: 1) Prenatal genetic screening (serum screening with or without nuchal translucency [NT] ultra-sound or cell-free DNA screening) and diagnostic testing (chorionic villus sampling [CVS] or amniocentesis) for chromosomal abnormalities should be discussed and offered to all patients early in pregnancy regardless of maternal age or baseline risk. 2) A patient’s baseline risk for chromosomal abnormalities should not limit testing options.
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Sequenom: Breadth of '540 Patent Creates Vulnerability to Validity Challenge Despite Strength of Claims – Attorneys '540 Descr
Sequenom: breadth of '540 patent creates vulnerability to validity challenge despite strength of claims – attorneys '540 describes a "pioneering process;" entitled to more breadth Aria may be found not to be infringing due to subtle differences in method Techniques for amplification and detection alone not patentable Injunction to hinge on competition, pricing, and regulatory strategies Sequenom's (NASDAQ: SQNM) claims for US Patent 6,258,540 ('540) for non-invasive prenatal diagnosis appear strong, though the patent's breadth presents some concern for maintaining validity, patent attorneys said. Isis Innovation Limited is the named patent holder, with Sequenom the exclusive licensee. Sequenom is currently engaged in litigation with private diagnostic developers A ria Diagnostics and Natera. Sequenom offers MaterniT21, a laboratory developed test for the non-invasive diagnosis of Trisomy 21 (Down Syndrome), and is currently in pursuit of in-vitro diagnostic clearance. Aria is developing its own non-invasive T21 test, and Natera offers non-invasive prenatal paternity testing. Verinata Health announced on 23 February that it has commenced an action against Sequenom, seeking a declaratory judgment that its cell-free DNA sequencing analysis techniques used in its prenatal diagnostics do not infringe the '540 patent. Aria filed suit against Sequenom in December claiming the latter is overly aggressive in its enforcement of the '540 patent, with Aria requesting a declaratory judgment that its test does not infringe the '540 patent. Sequenom then filed against Aria in January with the US District Court for the Southern District of California, alleging Aria infringes the '540 patent, and the infringement has been "intentional, deliberate, and willful." Natera similarly filed suit against Sequenom in January, claiming it does not infringe the '540 patent and that the patent is invalid.
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Clinical Outcome of Subchromosomal Events Detected by Whole‐Genome Noninvasive Prenatal Testing
DOI: 10.1002/pd.4640 ORIGINAL ARTICLE Clinical outcome of subchromosomal events detected by whole- genome noninvasive prenatal testing J. Helgeson1, J. Wardrop1, T. Boomer1, E. Almasri1, W. B. Paxton1, J. S. Saldivar1, N. Dharajiya1, T. J. Monroe2, D. H. Farkas3,4, D. S. Grosu1 and R. M. McCullough1* 1Sequenom Laboratories, San Diego, CA, USA 2Sequenom Laboratories, Morrisville, NC, USA 3Sequenom Laboratories, Grand Rapids, MI, USA 4Department of Obstetrics, Gynecology and Reproductive Medicine, Michigan State University, East Lansing, MI, USA *Correspondence to: R. M. McCullough. E-mail: [email protected] ABSTRACT Objective A novel algorithm to identify fetal microdeletion events in maternal plasma has been developed and used in clinical laboratory-based noninvasive prenatal testing. We used this approach to identify the subchromosomal events 5pdel, 22q11del, 15qdel, 1p36del, 4pdel, 11qdel, and 8qdel in routine testing. We describe the clinical outcomes of those samples identified with these subchromosomal events. Methods Blood samples from high-risk pregnant women submitted for noninvasive prenatal testing were analyzed using low coverage whole genome massively parallel sequencing. Sequencing data were analyzed using a novel algorithm to detect trisomies and microdeletions. Results In testing 175 393 samples, 55 subchromosomal deletions were reported. The overall positive predictive value for each subchromosomal aberration ranged from 60% to 100% for cases with diagnostic and clinical follow-up information. The total false positive rate was 0.0017% for confirmed false positives results; false negative rate and sensitivity were not conclusively determined. Conclusion Noninvasive testing can be expanded into the detection of subchromosomal copy number variations, while maintaining overall high test specificity.
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