Ordering Physician: Dr. Pepper, MD Additional Reports Sent to: N/A Clinic Information: IVF, Inc.

Similar documents
your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing.

A test your patients can trust. A company you know and trust.

Non-Invasive Prenatal Testing (NIPT) Factsheet

A test your patients can trust.

Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA

Clinical Studies Abstract Booklet

Complimentary and personal copy for

Sequencing-based Tests to Determine Trisomy 21 from Maternal Plasma DNA

Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- Free Fetal DNA

COMMITTEE OPINION. Cell-free DNA Screening for Fetal Aneuploidy

cfdna in maternal plasma obtained from a population undergoing routine screening at weeks gestation.

The National Down Syndrome Cytogenetic Register for England and Wales: 2008/9 Annual Report

The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands

Chromosomes, Karyotyping, and Abnormalities (Learning Objectives) Learn the components and parts of a metaphase chromosome.

Consent to Perform Preimplantation Genetic Screening (PGS) using. Comparative Genomic Hybridization (acgh) or Next Generation Sequencing (NGS)

Executive summary. Current prenatal screening

Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method

Genetic Counseling: A Profession in the Making. Jessica Hooks, MS Genetic Counselor University of South Carolina

fi АУ : fi apple Ав Ав АУ . apple, АУ fiав Ав. АК applefi АУ, АУАв Ав fi АУ apple fi Ав. А applefi АУ АУ АУ АсА» Ас Ам, длappleapple Ас...

REI Pearls: Pitfalls of Genetic Testing in Miscarriage

Sonographic screening for trisomy 13 at 11 to 13 D6 weeks of gestation

The California Prenatal Screening Program

LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES. Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD

Genetics and Pregnancy Loss

Screening for chromosomal abnormalities at weeks: the role of ductus venosus blood flow

Current Status in Non-Invasive Prenatal Detection of Down Syndrome, Trisomy 18, and Trisomy 13 Using Cell-Free DNA in Maternal Plasma

Non-invasive prenatal detection of chromosome aneuploidies using next generation sequencing: First steps towards clinical application

Preimplantation Genetic Diagnosis (PGD) in Western Australia

PROFESSIONAL GUIDELINES FOR CLINICAL CYTOGENETICS AND CLINICAL MOLECULAR GENETICS

REQUEST FOR IMAGe SYNDROME TESTING

CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA

Fetal Fraction Estimate in Twin Pregnancies Using Directed Cell-Free DNA Analysis

Prenatal Testing Special tests for your baby during pregnancy

Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood

Basic Human Genetics: Reproductive Health and Chromosome Abnormalities

In most developed countries, prenatal screening

New Prenatal Tests for Down Syndrome: Brian G. Skotko, MD, MPP Co-Director, Down Syndrome Program Massachusetts General Hospital

Parvovirus B19 Infection in Pregnancy

RECURRENT PREGNANCY LOSS DR.RAJALAKSHMI SRINIVASAN SPECIALIST GYNECOLOGIST ZULEKHA HOSPITAL DUBAI

Fetal Prognosis in Varix of the Intrafetal Umbilical Vein

Each person normally has 23 pairs of chromosomes, or 46 in all. We inherit one chromosome per pair from our mother and one from our father.

Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies

Prenatal screening and diagnostic tests

What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives

Analytical goal setting in aneuploidy screening: within person biological variability of first trimester biochemical markers

The California Prenatal Screening Program

Invasive Prenatal (Fetal) Diagnostic Testing

echocardiography practice and try to determine the ability of each primary indication to identify congenital heart disease. Patients and Methods

3D Ultrasound. Outline. What is 3D US? Volume Sonography. 3D Ultrasound in Obstetrics: Current Modalities & Future Potential. Alfred Abuhamad, M.D.

Neural tube defects: open spina bifida (also called spina bifida cystica)

Charts of fetal size: limb bones

Trisomy 13 (also called Patau s syndrome or T13)

The correct answer is c A. Answer a is incorrect. The white-eye gene must be recessive since heterozygous females have red eyes.

First Trimester Screening for Down Syndrome

Middle cerebral artery peak systolic velocity to predict fetal hemoglobin levels in twin anemia polycythemia sequence

Screening for trisomy 21 by fetal tricuspid regurgitation, nuchal translucency and maternal serum free β-hcg and PAPP-A at to13+ 6 weeks

The weeks scan

Ultrasonographic Diagnosis of Trisomy 18: Is It Practical in the Early Second Trimester?

Down s Syndrome: Ultrasound Screening

A Guide to Prenatal Genetic Testing

User guide for referring samples to the IBGRL Molecular Diagnostics Laboratory

Trisomies 13 and 18. -Maternal age. (Patau and Edward s syndrome)

Clinical Significance of First Trimester Umbilical Cord Cysts

Clinical Policy Title: Array comparative genomic hybridization testing

Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy

Patient information on soft markers

Risk Calculation Software Requirements for Down's Syndrome Screening

Wendy Martinez, MPH, CPH County of San Diego, Maternal, Child & Adolescent Health

Ultrasound evaluation of fetal gender at weeks

Gutenberg Center in MALAGA

Long-Term Prognosis of Pregnancies Complicated by Slow Embryonic Heart Rates in the Early First Trimester

Differentiation between normal and abnormal fetal growth

Chromosomes, Mapping, and the Meiosis Inheritance Connection

The ultrasound detection of chromosomal anomalies 1

Frontomaxillary and mandibulomaxillary facial angles at to13+ 6 weeks in fetuses with trisomy 18

What women can do to optimise their health during pregnancy and that of their baby Claire Roberts

PREGNANCY INFORMATION PACK. Peace of mind throughout pregnancy

Obstetrical Ultrasound and Prenatal Diagnostic Center

The quadruple test screening for Down s syndrome and spina bifida

Title: Genetics and Hearing Loss: Clinical and Molecular Characteristics

Ultrasound of Fetal Biometrics and Growth

The following chapter is called "Preimplantation Genetic Diagnosis (PGD)".

Birth Defects Monitoring in Japan -Possible Effects of Environmental Endocrine Disrupters-

Fact Sheet for Health Care Providers: Interpreting Results from the Aptima Zika Virus Assay. June 17, 2016

Ehlers-Danlos Syndrome Fertility Issues. Objectives

UNIT 13 (OPTION) Genetic Abnormalities

Position Statement from the Aneuploidy Screening Committee on Behalf of the Board of the International Society for Prenatal Diagnosis, April 2013

Transcription:

Report date: 4/4/0 Case file ID: 0 Date of Birth: 0/0/970 Maternal Age at EDD: 0 Gestational Age: 8 weeks/6 days Additional Reports Sent to: Samples Collected: //0 LOW RISK for Trisomies, 8,, and and Triploidy. Trisomy /0 (0.%) </0,000 (<0.0%) Trisomy 8 /,4 (0.09%) </0,000 (<0.0%) Trisomy /,49 (0.0%) </0,000 (<0.0%) /568 (0.8%) </0,000 (<0.0%) Triploidy/Vanishing twins Based on a priori and test results T T8 T HI GH RI SK LOW RI SK X </0,000 (<0.0%) /500 (0.% ) / 00 ( % ) ensure good quality data for accurate, consistent results. s indicating 9,500 loci using a targeted PCR assay, and sequenced using an Illumina HiSeq T CI:[9.5%-00%] CI:[99.5%-00%] T8 CI:[78.%-00%] CI:[99.5%-00%] copy number for chromosomes, 8,, X and Y, thereby identifying T CI:[59.0%-00%] CI:[99.5%-00%] any whole chromosome abnormali9% CI:[6.5%-99.8%] CI:[99.5%-00%] Triploidy/ Vanishing CI:[47.8%-00%] Twins placental mosaicism 0/ 00 ( 0% ) >99/00 () for aneuploidy of chromosomes, 8,, X and Y only. Abnormalities Due to inability to distinguish between vanishing twins and triploidy, specificity cannot be calculated. References: Snijders RJ, et al. Maternal age- and gestation-specific for trisomy. Ultrasound Obstet Gynecol 999 Mar;():67-70. Snijders etal. Maternal age and gestational age specific for chromosomal defects. Fetal Dign Ther 995 Nov-Dec:0(6):56-67. Gravholt CH, et al. Prenatal and postnatal prevalence of Turner syndrome: a registry study. BMJ 996; :6-. Levy B, et al. Use of targeted sequencing of SNPs to achieve highly accurate non-invasive detection of fetal aneuploidy of chromosomes, 8,, and sex chromosomes in Society of Maternal Fetal Medicine(San Francisco 0). Zimmerman B, et al. Noninvasive prenatal aneuploidy testing of chromosomes, 8,, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 0 Dec; ():-4. IF THE ORDERING PROVIDER HAS QUESTIONS OR WISHES TO DISCUSS THE, PLEASE CONTACT US AT 650-49-909 AND ASK FOR THE GENETIC COUNSELOR ON CALL. CLIA ID#05D0899 Natera, Inc., -855-866-NIPT (6478) 0 Industrial Road Suite 40, San Carlos, CA 94070

Report date: 4/4/0 Case file ID: 0 Date of Birth: 0/0/970 Maternal Age at EDD: 0 Gestational Age: 8 weeks/6 days Additional Reports Sent to: Samples Collected: //0 s are consistent with a possible triploid or vanishing twin pregnancy. Follow-up counseling and testing is recommended. Although these results increase the for a triploid fetus, the possibility of a vanishing twin pregnancy (or unrecognized multiple gestation) cannot be excluded. Review of clinical history along with ultrasound findings and possible diagnostic prenatal testing is recommended to fully interpret results. SEX OF FETUS: Trisomy /9 (0.44%) Trisomy 8 /465 (0.%) Trisomy /,48 (0.07%) /55 (0.9%) Increased Follow up counseling and testing recommended Triploidy/Vanishing twins ensure good quality data for accurate, consistent results. s indicating 9,500 loci using a targeted PCR assay, and sequenced using an Illumina HiSeq T CI:[9.5%-00%] CI:[99.5%-00%] T8 CI:[78.%-00%] CI:[99.5%-00%] copy number for chromosomes, 8,, X and Y, thereby identifying T CI:[59.0%-00%] CI:[99.5%-00%] any whole chromosome abnormali9% CI:[6.5%-99.8%] CI:[99.5%-00%] Triploidy/ Vanishing CI:[47.8%-00%] Twins placental mosaicism Based on a priori and test results for aneuploidy of chromosomes, 8,, X and Y only. Abnormalities Due to inability to distinguish between vanishing twins and triploidy, specificity cannot be calculated. References: Snijders RJ, et al. Maternal age- and gestation-specific for trisomy. Ultrasound Obstet Gynecol 999 Mar;():67-70. Snijders etal. Maternal age and gestational age specific for chromosomal defects. Fetal Dign Ther 995 Nov-Dec:0(6):56-67. Gravholt CH, et al. Prenatal and postnatal prevalence of Turner syndrome: a registry study. BMJ 996; :6-. Levy B, et al. Use of targeted sequencing of SNPs to achieve highly accurate non-invasive detection of fetal aneuploidy of chromosomes, 8,, and sex chromosomes in Society of Maternal Fetal Medicine(San Francisco 0). Zimmerman B, et al. Noninvasive prenatal aneuploidy testing of chromosomes, 8,, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 0 Dec; ():-4. IF THE ORDERING PROVIDER HAS QUESTIONS OR WISHES TO DISCUSS THE, PLEASE CONTACT US AT 650-49-909 AND ASK FOR THE GENETIC COUNSELOR ON CALL. CLIA ID#05D0899 Natera, Inc., -855-866-NIPT (6478) 0 Industrial Road Suite 40, San Carlos, CA 94070

Report date: 4/4/0 Case file ID: 0 Date of Birth: 0/0/970 Maternal Age at EDD: 0 Gestational Age: 8 weeks/6 days Additional Reports Sent to: Samples Collected: //0 LOW RISK for Trisomies, 8, and, and. Trisomy /0 (0.%) </0,000 (<0.0%) Trisomy 8 /,4 (0.09%) </0,000 (<0.0%) Trisomy /,49 (0.0%) </0,000 (<0.0%) /568 (0.8%) </0,000 (<0.0%) Based on a priori and test results T T8 T HI GH RI SK LOW RI SK X </0,000 (<0.0%) /500 (0.% ) / 00 ( % ) ensure good quality data for accurate, consistent results. s indicating 9,500 loci using a targeted PCR assay, and sequenced using an Illumina HiSeq T CI:[9.5%-00%] CI:[99.5%-00%] T8 CI:[78.%-00%] CI:[99.5%-00%] copy number for chromosomes, 8,, X and Y, thereby identifying T CI:[59.0%-00%] CI:[99.5%-00%] any whole chromosome abnormali9% CI:[6.5%-99.8%] CI:[99.5%-00%] 0/ 00 ( 0% ) >99/00 () for aneuploidy of chromosomes, 8,, X and Y only. Abnormalities References: Snijders RJ, et al. Maternal age- and gestation-specific for trisomy. Ultrasound Obstet Gynecol 999 Mar;():67-70. Snijders etal. Maternal age and gestational age specific for chromosomal defects. Fetal Dign Ther 995 Nov-Dec:0(6):56-67. Gravholt CH, et al. Prenatal and postnatal prevalence of Turner syndrome: a registry study. BMJ 996; :6-. Levy B, et al. Use of targeted sequencing of SNPs to achieve highly accurate non-invasive detection of fetal aneuploidy of chromosomes, 8,, and sex chromosomes in Society of Maternal Fetal Medicine(San Francisco 0). Zimmerman B, et al. Noninvasive prenatal aneuploidy testing of chromosomes, 8,, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 0 Dec; ():-4. IF THE ORDERING PROVIDER HAS QUESTIONS OR WISHES TO DISCUSS THE, PLEASE CONTACT US AT 650-49-909 AND ASK FOR THE GENETIC COUNSELOR ON CALL. CLIA ID#05D0899 Natera, Inc., -855-866-NIPT (6478) 0 Industrial Road Suite 40, San Carlos, CA 94070

Report date: 4/4/0 Case file ID: 0 Date of Birth: 0/0/970 Maternal Age at EDD: 0 Gestational Age: 8 weeks/6 days Additional Reports Sent to: Samples Collected: //0 Unable to report due to uninformative DNA pattern. Redraw is not recommended. Reasons for uninformative DNA pattern can include: higher than expected levels of homozygosity (i.e.haploblocks) that affect the test bioinformatics, multiple gestations, vanishing twins, triploidy, clarity of maternal SNP profile, or use of egg donors and/or surrogates Trisomy /9 (0.44%) Trisomy 8 /465 (0.%) Trisomy /,48 (0.07%) /55 (0.9%) ensure good quality data for accurate, consistent results. s indicating 9,500 loci using a targeted PCR assay, and sequenced using an Illumina HiSeq T CI:[9.5%-00%] CI:[99.5%-00%] T8 CI:[78.%-00%] CI:[99.5%-00%] copy number for chromosomes, 8,, X and Y, thereby identifying T CI:[59.0%-00%] CI:[99.5%-00%] any whole chromosome abnormali9% CI:[6.5%-99.8%] CI:[99.5%-00%] Based on a priori and test results for aneuploidy of chromosomes, 8,, X and Y only. Abnormalities References: Snijders RJ, et al. Maternal age- and gestation-specific for trisomy. Ultrasound Obstet Gynecol 999 Mar;():67-70. Snijders etal. Maternal age and gestational age specific for chromosomal defects. Fetal Dign Ther 995 Nov-Dec:0(6):56-67. Gravholt CH, et al. Prenatal and postnatal prevalence of Turner syndrome: a registry study. BMJ 996; :6-. Levy B, et al. Use of targeted sequencing of SNPs to achieve highly accurate non-invasive detection of fetal aneuploidy of chromosomes, 8,, and sex chromosomes in Society of Maternal Fetal Medicine(San Francisco 0). Zimmerman B, et al. Noninvasive prenatal aneuploidy testing of chromosomes, 8,, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 0 Dec; ():-4. IF THE ORDERING PROVIDER HAS QUESTIONS OR WISHES TO DISCUSS THE, PLEASE CONTACT US AT 650-49-909 AND ASK FOR THE GENETIC COUNSELOR ON CALL. CLIA ID#05D0899 Natera, Inc., -855-866-NIPT (6478) 0 Industrial Road Suite 40, San Carlos, CA 94070

Report date: 4/4/0 Case file ID: 0 Date of Birth: 0/0/970 Maternal Age at EDD: 0 Gestational Age: 8 weeks/6 days Additional Reports Sent to: Samples Collected: //0 Unable to report due to low fetal fraction. Submission of a new sample is required for testing. Trisomy /9 (0.44%) Trisomy 8 /465 (0.%) Trisomy /,48 (0.07%) /55 (0.9%) ensure good quality data for accurate, consistent results. s indicating 9,500 loci using a targeted PCR assay, and sequenced using an Illumina HiSeq T CI:[9.5%-00%] CI:[99.5%-00%] T8 CI:[78.%-00%] CI:[99.5%-00%] copy number for chromosomes, 8,, X and Y, thereby identifying T CI:[59.0%-00%] CI:[99.5%-00%] any whole chromosome abnormali9% CI:[6.5%-99.8%] CI:[99.5%-00%] SEX OF FETUS: Fetal fraction: Based on a priori and test results for aneuploidy of chromosomes, 8,, X and Y only. Abnormalities References: Snijders RJ, et al. Maternal age- and gestation-specific for trisomy. Ultrasound Obstet Gynecol 999 Mar;():67-70. Snijders etal. Maternal age and gestational age specific for chromosomal defects. Fetal Dign Ther 995 Nov-Dec:0(6):56-67. Gravholt CH, et al. Prenatal and postnatal prevalence of Turner syndrome: a registry study. BMJ 996; :6-. Levy B, et al. Use of targeted sequencing of SNPs to achieve highly accurate non-invasive detection of fetal aneuploidy of chromosomes, 8,, and sex chromosomes in Society of Maternal Fetal Medicine(San Francisco 0). Zimmerman B, et al. Noninvasive prenatal aneuploidy testing of chromosomes, 8,, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 0 Dec; ():-4. IF THE ORDERING PROVIDER HAS QUESTIONS OR WISHES TO DISCUSS THE, PLEASE CONTACT US AT 650-49-909 AND ASK FOR THE GENETIC COUNSELOR ON CALL. CLIA ID#05D0899 Natera, Inc., -855-866-NIPT (6478) 0 Industrial Road Suite 40, San Carlos, CA 94070