Corporate Medical Policy Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- Free Fetal DNA

Size: px
Start display at page:

Download "Corporate Medical Policy Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- Free Fetal DNA"

Transcription

1 Corporate Medical Policy Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- File Name: Origination: Last CAP Review: Next CAP Review: Last Review: noninvasive_prenatal_testing_for_fetal_aneuploidies_using_cell-free_fetal_dna 1/2013 9/2015 9/2016 9/2015 Description of Procedure or Service National guidelines recommend that all pregnant women be offered screening for fetal chromosomal abnormalities, the majority of which are aneuploidies (an abnormal number of chromosomes). The trisomy syndromes are aneuploidies involving 3 copies of one chromosome. Trisomies 21, 18 and 13 are the most common forms of fetal aneuploidy that survive to birth. There are numerous limitations to standard screening for these disorders using maternal serum and fetal ultrasound. Commercial noninvasive, sequencing-based testing of maternal serum for fetal trisomy 21, 18, and 13 has recently become available and has the potential to substantially alter the current approach to screening. Background Fetal chromosomal abnormalities occur in approximately 1 in 160 live births. The majority of fetal chromosomal abnormalities are aneuploidies, defined as an abnormal number of chromosomes. The trisomy syndromes are aneuploidies involving 3 copies of one chromosome. Trisomy 21 (Down syndrome, T21), trisomy 18 (Edwards syndrome, T18), and trisomy 13 (Patau syndrome, T13) are the most common forms of fetal aneuploidy that survive to birth. The most important risk factor for trisomy syndromes is maternal age, with an approximate risk of 1/1500 in young women that increases to nearly 1/10 by age 48. T21 is the most common cause of human birth defects and provides the impetus for current maternal serum screening programs. Other trisomy syndromes include T18 (Edwards syndrome), and T13 (Patau syndrome) are the next most common forms of fetal aneuploidy that survive to birth. The prevalence of these other aneuploidies is much lower than the prevalence of T21, and identifying them is not currently the main intent of prenatal screening programs. Also, the clinical implications of identifying trisomy 18 and 13 are unclear, as most fetuses with trisomy 18 and 13 do not survive to term. Sex chromosome aneuploidies (e.g., 45,X [Turner syndrome]; 47,XXY, 47,XYY) occur in approximately 1 in 400 live births. These aneuploidies are typically diagnosed postnatally, sometimes not until adulthood, such as during an evaluation of diminished fertility. Alternatively, sex chromosome aneuploidies may be diagnosed incidentally during invasive karyotype testing of pregnant women at high risk for Down syndrome. The net clinical value of prenatal diagnosis of sex chromosome aneuploidies is unclear. Potential benefits of early identification such as the opportunity for early management of the manifestations of the condition, must be balanced against potential harms that can include stigmatization and distortion of a family s view of the child. Current national guidelines recommend that all pregnant women be offered screening for fetal aneuploidy (referring specifically to trisomy 21, 18, and 13) before 20 weeks of gestation, regardless of age. Combinations of maternal serum markers and fetal ultrasound done at various stages of pregnancy are Page 1 of 6

2 used, but there is not a standardized approach. The detection rate for various combinations of noninvasive testing ranges from 60-96% when the false-positive rate is set at 5%. W hen tests indicate a high risk of a trisomy syndrome, direct karyotyping of fetal tissue obtained by amniocentesis or chorionic villous sampling (CVS) is required to confirm that trisomy 21 or another trisomy is present. Both amniocentesis and CVS are invasive procedures and have an associated risk of miscarriage. A new screening strategy that reduces unnecessary amniocentesis and CVS procedures and increases detection of trisomy 21, 18, and 13 has the potential to improve outcomes. Commercial, non-invasive, sequencing-based testing of maternal serum for fetal trisomy syndromes has recently become available and has the potential to substantially alter the current approach to screening. The test technology involves detection of fetal cell-free DNA fragments present in the plasma of pregnant women. As early as 8 to 10 weeks of gestation, these fetal DNA fragments comprise 6 to 10% or more of the total cell-free DNA in a maternal plasma sample. The tests are unable to provide a result if fetal fraction is too low, that is, below about 4%. Fetal fraction can be affected by maternal and fetal characteristics. For example, fetal fraction was found to be lower at higher maternal weights and higher with increasing fetal crown-rump length. Sequencing-based tests use 1 of 2 general approaches to analyzing cell-free DNA. The first category of tests uses quantitative or counting methods. The most widely used technique to date uses massively parallel shotgun sequencing (MPS; also known as next generation or next-gen sequencing). DNA fragments are first amplified by polymerase chain reaction (PCR); during the sequencing process, the amplified fragments are spatially segregated and sequenced simultaneously in a massively parallel fashion. Sequenced fragments can be mapped to the reference human genome in order to obtain numbers of fragment counts per chromosome. The sequencing-derived percent of fragments from the chromosome of interest reflects the chromosomal representation of the maternal and fetal DNA fragments in the original maternal plasma sample. Another technique is direct DNA analysis, which analyzes specific cellfree DNA fragments across samples and requires approximately a tenth the number of cell-free DNA fragments as MPS. The digital analysis of selected regions (DANSR ) is an assay that uses direct DNA analysis. The second general approach is single-nucleotide polymorphism (SNP)-based methods. These use targeted amplification and analysis of approximately 20,000 SNPs on selected chromosomes (e.g., 21, 18 and 13) in a single reaction. A statistical algorithm is used to determine the number of each type of chromosome. In order to be clinically useful, the technology must be sensitive enough to detect a slight shift in DNA fragment counts among the small fetal fragment representation of a genome with a trisomic chromosome against a large euploid maternal background. Whether sequencing-based assays require confirmation by invasive procedures and karyotyping depends on assay performance. However, discrepancies between sequencing and invasive test results that may occur for biological reasons could make confirmation by invasive testing necessary at least in some cases, regardless of sequencing test performance characteristics. Regulatory Status None of the commercially available sequencing assays for detection of trisomy 21, 18 and 13 or other chromosomal abnormalities has been submitted to or reviewed by the U.S. Food and Drug Administration (FDA). Clinical laboratories may develop and validate tests in-house (laboratory-developed tests or LDTs; previously called home-brew ) and market them as a laboratory service; LDTs must meet the general regulatory standards of the Clinical Laboratory Improvement Act (CLIA). Laboratories offering LDTs must be licensed by CLIA for high-complexity testing. Information on commercially available tests is as follows: Page 2 of 6

3 In October 2011, Sequenom (San Diego, CA) introduced its MaterniT21 test to test for trisomy 21, 18 and 13. The test is offered through the company s CLIA laboratory, the Sequenom Center for Molecular Medicine. (Uses MPS; reports results as positive or negative.) As of October 2014, Sequenom is offering the MaterniT21 PLUS test which tests for trisomy 21, 18 and 13 and also reports fetal sex aneuploidies, trisomies 16 and 22, and selected microdeletions as additional findings. In March 2012, Illumina (Redwood, CA; formerly Verinata Health) launched its Verifi prenatal test for trisomy 21, 18, and 13. (Uses MPS and calculates a normalized chromosomal value [NPS]; reports results as 1 of 3 categories: No Aneuploidy Detected, Aneuploidy Detected, or Aneuploidy Suspected.) In May 2012, Ariosa Diagnostics (San Jose, CA; formerly Aria) launched its Harmony test for trisomy 21 and 18, which is available from Integrated Genetics, a division of LabCorp. (Uses directed DNA analysis, results reported as risk score.) In March 2013, Natera (San Carlos, CA) introduced its Panorama prenatal test for detecting trisomy 21, 18 and 13 as well as for detecting select sex chromosome abnormalities. The test is available at ARUP Laboratories. (Uses SNP technology; results reported as risk score.) Policy Related Guideline Maternal Fetal Diagnostics ***Note: This Medical Policy is complex and technical. For questions concerning the technical language and/or specific clinical indications for its use, please consult your physician. BCBSNC will provide coverage for nucleic acid sequencing-based testing of maternal plasma for fetal aneuploidy when it is determined to be medically necessary because the medical criteria and guidelines noted below are met. Nucleic acid sequencing-based testing of maternal plasma for fetal aneuploidy in women who do not meet the criteria is considered investigational. BCBSNC does not provide coverage for investigational services or procedures. Benefits Application This medical policy relates only to the services or supplies described herein. Please refer to the Member's Benefit Booklet for availability of benefits. Member's benefits may vary according to benefit design; therefore member benefit language should be reviewed before applying the terms of this medical policy. When Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell-Free Fetal DNA is covered Nucleic acid sequencing-based testing of maternal plasma for trisomy 21 may be considered medically necessary in women with high-risk singleton pregnancies (see Policy Guidelines) undergoing screening for trisomy 21. (Karyotyping would be necessary to exclude the possibility of a false positive nucleic acid sequencing based test. Before testing, women should be counseled about the risk of a false positive test. See Policy Guidelines.) Concurrent nucleic acid sequencing-based testing of maternal plasma for trisomy 13, 18, and/or Page 3 of 6

4 fetal sex chromosome aneuploidies may be considered medically necessary in women who are eligible for and are undergoing nucleic acid sequencing-based testing of maternal plasma for trisomy 21. When Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell-Free Fetal DNA is not covered Nucleic acid sequencing-based testing of maternal plasma for trisomy 21 is considered not medically necessary in women with average-risk singleton pregnancies. Nucleic acid sequencing-based testing of maternal plasma for trisomy 21 is considered investigational in women with twin or multiple pregnancies. Nucleic acid sequencing-based testing of maternal plasma for trisomy 13, 18, and/or fetal sex chromosome aneuploidies other than in the situations specified above, is considered investigational. Policy Guidelines High-risk singleton pregnancies as defined by the American College of Obstetricians and Gynecologists (ACOG) Committee Opinion, Number 454, December 2012 include women who meet at least one of the following criteria:. Maternal age 35 years or older at delivery; Fetal ultrasonographic findings indicating increased risk of aneuploidy; History of previous pregnancy with a trisomy; Standard serum screening test positive for aneuploidy; or Parental balanced robertsonian translocation with increased risk of fetal trisomy 13 or trisomy 21. Published studies on all commercially available tests, and meta-analyses of these studies, have consistently demonstrated very high sensitivity and specificity for detecting Down syndrome (trisomy 21) in singleton pregnancies. Most of the studies included only women at high risk of T21. For average risk women, available studies suggest test performance similar to that reported in high-risk women, but there is less evidence in this population. Nearly all of the studies included only women at high-risk of trisomy 21. Direct evidence of clinical utility is not available. A 2013 TEC Assessment modeled comparative outcomes based on the published data on test performance, published estimates of standard screening performance, patient uptake of confirmatory testing, and miscarriage rates associated with invasive procedures. For each comparison and in each risk population, sequencing-based testing improved outcomes, i.e., increased the rate of Down syndrome detection, and reduced the number of invasive procedures and procedure-related miscarriages. In the modeling, the negative predictive value of testing approached 100% across the range of aneuploidy risk, while the positive predictive value varied widely according to baseline risk. The variable positive predictive value highlights the possibility of a falsepositive finding and thus testing using karyotyping is necessary to confirm a positive result. There is less published evidence on the diagnostic performance of sequencing-based tests for detecting T18, T13 and sex chromosome anomalies, and most of the available studies were conducted in high-risk pregnancies. Meta-analyses of available data suggest high sensitivities and specificities, but the small number of cases, especially for T13, makes definitive conclusions difficult. The findings of a decision analysis study included in the 2014 TEC Assessment suggest similar rates of T13 and T18 detection to standard noninvasive screening; the analysis assumed that T13 and T18 screening would be done in conjunction with T21 screening. Due to the low survival rate, the clinical benefit of identifying trisomy 18 Page 4 of 6

5 and 13 are unclear. The clinical utility of early sex chromosome aneuploidy detection is also unclear. Billing/Coding/Physician Documentation Information This policy may apply to the following codes. Inclusion of a code in this section does not guarantee that it will be reimbursed. For further information on reimbursement guidelines, please see Administrative Policies on the Blue Cross Blue Shield of North Carolina web site at They are listed in the Category Search on the Medical Policy search page. Effective July 1, 2015, there is aspecific code for the Sequenom VisibiliT test: 0009M Effective in 2014, there is a specific Multianalyte Assays with Algorithmic Analyses (MAAA) CPT code for the Ariosa Diagnostics Harmony Prenatal Test: Between July 2013 and January 1, 2014, there was a MAAA administrative CPT code for the Ariosa Harmony Prenatal Test 0005M Effective in 2015, if the test is run as a genomic sequence analysis panel that includes analysis of all 3 chromosomes and does not involve an algorithmic analysis, the following code is available: If the codes above do not apply and the test involves multianalyte assays and an algorithmic analysis, it would be reported with the unlisted Multianalyte Assays with Algorithmic Analyses (MAAA) code (81599). If the codes above do not apply, the unlisted molecular pathology code is available when the test does not involve an algorithmic analysis. BCBSNC may request medical records for determination of medical necessity. When medical records are requested, letters of support and/or explanation are often useful, but are not sufficient documentation unless all specific information needed to make a medical necessity determination is included. Scientific Background and Reference Sources BCBSA Medical Policy Reference Manual [Electronic Version] , 1/10/13 Specialty Matched Consultant Advisory Panel 9/2013 BCBSA Medical Policy Reference Manual [Electronic Version] , 12/12/13 For Policy titled: Noninvasive Prenatal Testing for Trisomy 21 Using Cell- BCBSA Medical Policy Reference Manual [Electronic Version] , 5/22/14 Specialty Matched Consultant Advisory Panel 9/2014 For Policy titled: Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- BCBSA Medical Policy Reference Manual [Electronic Version] , 11/13/14 Specialty Matched Consultant Advisory Panel 9/2015 Policy Implementation/Update Information 7/1/13 New policy issued. Nucleic acid sequencing-based testing of maternal plasma for trisomy 21 may be considered medically necessary in women with high-risk singleton pregnancies Page 5 of 6

6 undergoing screening for trisomy 21. Nucleic acid sequencing-based testing of maternal plasma for trisomy 21 is considered investigational for all other applications. Medical Director review 1/2013. (sk) 10/15/13 Information regarding Natera s Panorama prenatal test added to Regulatory Status section. Specialty Matched Consultant Advisory Panel review 9/18/13. No change to Policy statement. (sk) 12/31/13 Coding update. CPT code 0005M deleted. CPT code added. (sk) 4/1/14 Description of Procedure or Service section updated. Reference added. No change to Policy statement. Senior Medical Director review. (sk) Policy retitled: Noninvasive Prenatal Testing for Trisomy 21 Using Cell- 8/12/14 Policy title changed from Sequencing Based Tests to Determine Trisomy 21 from Maternal Plasma DNA to Noninvasive Prenatal Testing for Trisomy 21 Using Cell-Free Fetal DNA. Reference added. Clarified that testing in women with twin or multiple pregnancies is considered investigational. Senior Medical Director review. (sk) 10/14/14 Specialty Matched Consultant Advisory Panel review 9/30/14. No change to Policy statement. (sk) 12/30/14 Code added to Billing/Coding section for effective date 1/1/2015. (sk) Policy retitled: Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- 1/27/15 Reference updated. Policy title changed from Noninvasive Prenatal Testing for Trisomy 21 Using Cell- to Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell-. Background section updated. Regulatory Status section updated with information on MaterniT21 PLUS test. When Covered section updated with the following statement, Concurrent nucleic acid sequencing-based testing of maternal plasma for trisomy 13, 18, and/or fetal sex chromosome aneuploidies may be considered medically necessary in women who are eligible for and are undergoing nucleic acid sequencing-based testing of maternal plasma for trisomy 21. The statement Nucleic acid sequencing-based testing of maternal plasma for trisomy 13, 18, and/or fetal sex chromosome aneuploidies other than in the situations specified above, is considered investigational added to the When Not Covered section for further clarity. Policy Guidelines section and Physician Billing/Coding section updated. Senior Medical Director review. (sk) 7/1/15 Code 0009M added to Billing/Coding section. (sk) 10/30/15 Specialty Matched Consultant Advisory Panel review 9/30/15. (sk) Medical policy is not an authorization, certification, explanation of benefits or a contract. Benefits and eligibility are determined before medical guidelines and payment guidelines are applied. Benefits are determined by the group contract and subscriber certificate that is in effect at the time services are rendered. This document is solely provided for informational purposes only and is based on research of current medical literature and review of common medical practices in the treatment and diagnosis of disease. Medical practices and knowledge are constantly changing and BCBSNC reserves the right to review and revise its medical policies periodically. Page 6 of 6

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

Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- Free Fetal DNA Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- Free Fetal DNA Policy Number: Original Effective Date: MM.03.006 09/01/2013 Line(s) of Business: Current Effective Date: HMO; PPO; QUEST

More information

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

Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA MEDICAL POLICY POLICY RELATED POLICIES POLICY GUIDELINES DESCRIPTION SCOPE BENEFIT APPLICATION RATIONALE REFERENCES CODING APPENDIX HISTORY Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions

More information

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

Sequencing-based Tests to Determine Trisomy 21 from Maternal Plasma DNA Sequencing-based Tests to Determine Trisomy 21 from Maternal Plasma DNA Policy Number: Original Effective Date: MM.03.006 09/01/2013 Line(s) of Business: Current Effective Date: HMO; PPO; QUEST 09/01/2013

More information

6/20/2014. Noninvasive Prenatal Testing (NIPT): Separate But Not Equal. Normal Male = 46,XY. Normal Female = 46,XX

6/20/2014. Noninvasive Prenatal Testing (NIPT): Separate But Not Equal. Normal Male = 46,XY. Normal Female = 46,XX Noninvasive Prenatal Testing (NIPT): Separate But Not Equal Charles (Buck) Strom MD, PhD, FAAP, FACMG, HCLD Senior Medical Director, Genetics Quest Diagnostics Nichols Institute San Juan Capistrano, CA

More information

MEDICAL POLICY I. POLICY POLICY TITLE SEQUENCING- BASED TESTS TO DETERMINE TRISOMY 21 FROM MATERNAL PLASMA DNA POLICY NUMBER MP-2.

MEDICAL POLICY I. POLICY POLICY TITLE SEQUENCING- BASED TESTS TO DETERMINE TRISOMY 21 FROM MATERNAL PLASMA DNA POLICY NUMBER MP-2. Original Issue Date (Created): July 30, 2013 Most Recent Review Date (Revised): May 20, 2014 Effective Date: January 1, 2015 POLICY PRODUCT VARIATIONS DESCRIPTION/BACKGROUND RATIONALE DEFINITIONS BENEFIT

More information

Non-Invasive Prenatal Testing (NIPT) Factsheet

Non-Invasive Prenatal Testing (NIPT) Factsheet Introduction NIPT, which analyzes cell-free fetal DNA circulating in maternal blood, is a new option in the prenatal screening and testing paradigm for trisomy 21 and a few other fetal chromosomal aneuploidies.

More information

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

your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing. your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing. Accurate answers about your baby s health simply, safely, sooner. What is the verifi Prenatal

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy Whole Exome and Whole Genome Sequencing for Diagnosis of Genetic Disorders File Name: Origination: Last CAP Review: Next CAP Review: Last Review: whole_exome_and_whole_exome_sequencing_for_diagnosis_of_genetic_disorders

More information

PROVIDER POLICIES & PROCEDURES

PROVIDER POLICIES & PROCEDURES PROVIDER POLICIES & PROCEDURES FETAL ANEUPLOIDY DNA SEQUENCE ANALYSIS The purpose of this document is to assist providers enrolled in the Connecticut Medical Assistance Program (CMAP) with the information

More information

THE NEW GENETICS: PARADIGM SHIFTS IN PRENATAL DIAGNOSIS

THE NEW GENETICS: PARADIGM SHIFTS IN PRENATAL DIAGNOSIS THE NEW GENETICS: PARADIGM SHIFTS IN PRENATAL DIAGNOSIS Jennifer Hoskovec, MS, CGC Assistant Professor Director, Prenatal Genetic Counseling Services Department of Ob/Gyn and Reproductive Sciences UT Health

More information

Non-Invasive Prenatal Testing Information for medical practitioners

Non-Invasive Prenatal Testing Information for medical practitioners Non-Invasive Prenatal Testing Information for medical practitioners Harmony Prenatal Test evaluates the risk for trisomies 21, 18 and 13 in women of any age or risk category Since non-invasive prenatal

More information

New Genetic Approaches to Prenatal Diagnosis: THE TRANSITION TO GENOMICS

New Genetic Approaches to Prenatal Diagnosis: THE TRANSITION TO GENOMICS New Genetic Approaches to Prenatal Diagnosis: THE TRANSITION TO GENOMICS Michael Urban Medical Geneticist Division of Molecular Biology and Human Genetics Tygerberg Hospital and University of Stellenbosch

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy Proteomics-based Testing Related to Ovarian Cancer File Name: Origination: Last CAP Review: Next CAP Review: Last Review: proteomics_based_testing_related_to_ovarian_cancer 7/2010

More information

common_genetic_variants_to_predict_risk_of_nonfamilial_breast_cancer 3/2011 8/2015 8/2016 8/2015

common_genetic_variants_to_predict_risk_of_nonfamilial_breast_cancer 3/2011 8/2015 8/2016 8/2015 Corporate Medical Policy Common Genetic Variants to Predict Risk of Nonfamilial Breast File Name: Origination: Last CAP Review: Next CAP Review: Last Review: common_genetic_variants_to_predict_risk_of_nonfamilial_breast_cancer

More information

A simple, safe blood test that offers highly sensitive results

A simple, safe blood test that offers highly sensitive results A simple, safe blood test that offers highly sensitive results A non-invasive test that assesses the risk for chromosome conditions such as Down syndrome and includes an optional analysis of fetal sex

More information

Non-invasive Prenatal Deletion Test

Non-invasive Prenatal Deletion Test Non-invasive Prenatal Deletion Test offered by Baylor Miraca Genetics Laboratories Performed by and Powered by illumina Expanded Non-invasive Prenatal Test Expanded NIPT now includes the addition of microdeletion

More information

FETAL ANEUPLOIDY TESTING USING CELL-FREE FETAL NUCLEIC ACIDS IN MATERNAL BLOOD

FETAL ANEUPLOIDY TESTING USING CELL-FREE FETAL NUCLEIC ACIDS IN MATERNAL BLOOD UnitedHealthcare Community Plan Medical Policy FETAL ANEUPLOIDY TESTING USING CELL-FREE FETAL NUCLEIC ACIDS IN MATERNAL BLOOD Policy Number: CS085.H Effective Date: January 1, 2017 Table of Contents Page

More information

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

A test your patients can trust. A company you know and trust. A test your patients can trust. A company you know and trust. informaseq Prenatal Test an advanced, non-invasive, prenatal screening for T21, T18, and T13 chromosomal aneuploidies using next generation

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy File Name: Origination: Last CAP Review: Next CAP Review: Last Review: nerve_fiber_density_testing 2/2010 10/2015 10/2016 10/2015 Description of Procedure or Service Skin biopsy

More information

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

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

More information

Corporate Medical Policy Serum Biomarker Human Epididymis Protein 4 (HE4)

Corporate Medical Policy Serum Biomarker Human Epididymis Protein 4 (HE4) Corporate Medical Policy Serum Biomarker Human Epididymis Protein 4 (HE4) File Name: Origination: Last CAP Review: Next CAP Review: Last Review: serum_biomarker_human_epididymis_protein_4_(he4) 1/2010

More information

Objectives. Disclosures 4/22/2012. Next-Gen DNA Sequencing in Prenatal Screening for Down Syndrome: How is it best used? Barbara M.

Objectives. Disclosures 4/22/2012. Next-Gen DNA Sequencing in Prenatal Screening for Down Syndrome: How is it best used? Barbara M. Next-Gen DNA Sequencing in Prenatal Screening for Down Syndrome: How is it best used? Barbara M. O Brien, MD Women & Infants Hospital Alpert Medical School of Brown University Providence, RI Women & Infants

More information

A Review of Trisomy 21 Testing: Laboratory Developed Validation and Regulatory Considerations

A Review of Trisomy 21 Testing: Laboratory Developed Validation and Regulatory Considerations A Review of Trisomy 21 Testing: Laboratory Developed Validation and Regulatory Considerations Background on Trisomy 21 Testing: Down syndrome (DS), also called Down syndrome Syndrome and Trisomy 21, is

More information

FETAL ANEUPLOIDY TESTING USING CELL-FREE FETAL NUCLEIC ACIDS IN MATERNAL BLOOD

FETAL ANEUPLOIDY TESTING USING CELL-FREE FETAL NUCLEIC ACIDS IN MATERNAL BLOOD CLINICAL POLICY FETAL ANEUPLOIDY TESTING USING CELL-FREE FETAL NUCLEIC ACIDS IN MATERNAL BLOOD Policy Number: MATERNITY 025.10 T2 Effective Date: April 1, 2016 Table of Contents CONDITIONS OF COVERAGE...

More information

IMPLEMENTATION OF NON-INVASIVE PRENATAL TESTING FOR DOWN SYNDROME AND OTHER CHROMOSOMAL ABNORMALITIES IN CLINICAL PRACTICE IN SLOVENIA

IMPLEMENTATION OF NON-INVASIVE PRENATAL TESTING FOR DOWN SYNDROME AND OTHER CHROMOSOMAL ABNORMALITIES IN CLINICAL PRACTICE IN SLOVENIA IMPLEMENTATION OF NON-INVASIVE PRENATAL TESTING FOR DOWN SYNDROME AND OTHER CHROMOSOMAL ABNORMALITIES IN CLINICAL PRACTICE IN SLOVENIA Darija Strah 1, Petra Perin 2, Janez Bernik 3 1 Diagnostični center

More information

Noninvasive prenatal screen for pregnancy

Noninvasive prenatal screen for pregnancy Noninvasive prenatal screen for pregnancy What is QNatal TM Advanced Noninvasive Prenatal Screening? The QNatal Advanced prenatal screen is a noninvasive test that provides a high degree of accuracy for

More information

A test your patients can trust.

A test your patients can trust. A test your patients can trust. A simple, safe, and accurate non-invasive prenatal test for early risk assessment of Down syndrome and other conditions. informaseq Prenatal Test Simple, safe, and accurate

More information

New Genetic Testing in Pregnancy

New Genetic Testing in Pregnancy Oklahoma Academy of Family Physicians New Genetic Testing in Pregnancy J. Stephen Jones. MD Maternal Fetal Medicine Saint Francis Tulsa Oklahoma 16 June, 2016 1 Prenatal Testing for Fetal Aneuploidy Noninvasive

More information

NONINVASIVE PRENATAL DIAGNOSIS OF FETAL ANEUPLOIDY USING CELL-FREE FETAL NUCLEIC ACIDS IN MATERNAL BLOOD

NONINVASIVE PRENATAL DIAGNOSIS OF FETAL ANEUPLOIDY USING CELL-FREE FETAL NUCLEIC ACIDS IN MATERNAL BLOOD CLINICAL POLICY NONINVASIVE PRENATAL DIAGNOSIS OF FETAL ANEUPLOIDY USING CELL-FREE FETAL NUCLEIC ACIDS IN MATERNAL BLOOD Policy Number: MATERNITY 025.2 T2 Effective Date: May 1, 2013 Table of Contents

More information

Corporate Medical Policy Genetic Testing for Fanconi Anemia

Corporate Medical Policy Genetic Testing for Fanconi Anemia Corporate Medical Policy Genetic Testing for Fanconi Anemia File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_testing_for_fanconi_anemia 03/2015 3/2016 3/2017 3/2016 Description

More information

Non-Invasive Prenatal Screening Patient Information Booklet

Non-Invasive Prenatal Screening Patient Information Booklet Non-Invasive Prenatal Screening Patient Information Booklet The early days of your pregnancy can be exciting and overwhelming. Imagining the new life growing inside you is exciting but wading through

More information

Non-invasive Prenatal Testing Information for patients

Non-invasive Prenatal Testing Information for patients Non-invasive Prenatal Testing Information for patients Pregnancy is one of the most significant episodes in anyone s life for you (the pregnant woman), your partner and your child. Pregnancy can raise

More information

Clinical Studies Abstract Booklet

Clinical Studies Abstract Booklet Clinical Studies Abstract Booklet The Harmony Prenatal Test is a non-invasive prenatal test (NIPT) that assesses the risk of trisomies by analyzing cell-free DNA (cfdna) in maternal blood. Since January

More information

10/1/2014 CLINICAL EXPERIENCE OF MICRODELETION AND EXPANDED TRISOMY DETECTION BY NONINVASIVE PRENATAL TESTING (NIPT) Disclosure.

10/1/2014 CLINICAL EXPERIENCE OF MICRODELETION AND EXPANDED TRISOMY DETECTION BY NONINVASIVE PRENATAL TESTING (NIPT) Disclosure. CLINICAL EXPERIENCE OF MICRODELETION AND EXPANDED TRISOMY DETECTION BY NONINVASIVE PRENATAL TESTING (NIPT) 2014 NSGC Jenna Wardrop, MS, CGC Sequenom Laboratories Disclosure The speaker is a full-time employee

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy File Name: Origination: Last CAP Review: Next CAP Review: Last Review: observation_room_services 2/1997 2/2016 2/2017 2/2016 Description of Procedure or Service Observation services

More information

What is. PrenatalSAFE Karyo test is the most technologically advanced genome-wide NIPT

What is. PrenatalSAFE Karyo test is the most technologically advanced genome-wide NIPT What is PrenatalSAFE Karyo test is the most technologically advanced genome-wide NIPT Through cfdna analysis from maternal plasma, PrenatalSAFE Karyo detects: Aneuploidies structural chromosomal aberrations

More information

PATIENT CONSENT FORM PrenatalSafe Non-Invasive Prenatal Test (NIPT)

PATIENT CONSENT FORM PrenatalSafe Non-Invasive Prenatal Test (NIPT) PATIENT CONSENT FORM PrenatalSafe Non-Invasive Prenatal Test (NIPT) This blood test is designed to measure the combined maternal and fetal DNA present in maternal blood, and is considered a genetic test.

More information

Corporate Reimbursement Policy

Corporate Reimbursement Policy Corporate Reimbursement Policy Guidelines for Global Maternity Reimbursement File Name: Origination: Last Review: Next Review: guidelines_for_global_maternity_reimbursement 10/2003 7/2016 7/2017 Description

More information

Mod.PR 11.H3-ENG Rev. 05. PATIENT CONSENT FORM PrenatalSafe Non-Invasive Prenatal Test (NIPT)

Mod.PR 11.H3-ENG Rev. 05. PATIENT CONSENT FORM PrenatalSafe Non-Invasive Prenatal Test (NIPT) PATIENT CONSENT FORM PrenatalSafe Non-Invasive Prenatal Test (NIPT) This blood test is designed to measure the combined maternal and fetal DNA present in maternal blood, and is considered a genetic test.

More information

Non-invasive Prenatal Testing Information for Patients

Non-invasive Prenatal Testing Information for Patients Non-invasive Prenatal Testing Information for Patients Congratulations on your pregnancy Pregnancy can raise a whole range of emotions, from delight and excitement, through to fear and anxiety about the

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy File Name: Origination: Last CAP Review: Next CAP Review: Last Review: electrodiagnostic_studies 2/2008 10/2015 10/2016 10/2015 Description of Procedure or Service Electrodiagnostic

More information

a new era in prenatal testing

a new era in prenatal testing TM a new era in prenatal testing TM What is? Non-Invasive Prenatal Testing (NIPT) represents a major advance in screening and risk assessment for chromosomal abnormalities. In January 2016, the UK National

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy Quantitative Electroencephalography as a Diagnostic Aid for Attention File Name: Origination: Last CAP Review: Next CAP Review: Last Review: quantitative_electroencephalography_as_a_diagnostic_aid_for_adhd

More information

Testing for Chromosome Abnormalities

Testing for Chromosome Abnormalities Testing for Chromosome Abnormalities Congratulations on your pregnancy! While most babies are born healthy, approximately 3-5% will be affected with certain birth defects or genetic conditions. In all

More information

Greenbrier Obstetrics and Gynecology, P.C.

Greenbrier Obstetrics and Gynecology, P.C. Carrier Screening in Pregnancy for Common Genetic Diseases Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X are a few common serious disorders that can occur even without a family history. These

More information

Prenatal Aneuploidy Screening Using cell Free DNA. Detection rate of prenatal screening for Down syndrome has improved over time

Prenatal Aneuploidy Screening Using cell Free DNA. Detection rate of prenatal screening for Down syndrome has improved over time Prenatal Aneuploidy Screening Using cell Free DNA Disclosures o Research support from Natera and Ariosa Mary E. Norton MD Professor, Obstetrics, Gynecology and Reproductive Sciences University of California,

More information

THE NATIONAL CENTER FOR PRENATAL AND POSTNATAL DOWN SYNDROME RESOURCES

THE NATIONAL CENTER FOR PRENATAL AND POSTNATAL DOWN SYNDROME RESOURCES THE NATIONAL CENTER FOR PRENATAL AND POSTNATAL DOWN SYNDROME RESOURCES Stephanie Meredith, M.A. and Harold Kleinert, Ed.D. THE NATIONAL CENTER DOWNSYNDROMEDIAGNOSIS.ORG Evidence-based and medically-reviewed

More information

Corporate Medical Policy Cord Blood as a Source of Stem Cells

Corporate Medical Policy Cord Blood as a Source of Stem Cells Corporate Medical Policy Cord Blood as a Source of Stem Cells File Name: Origination: Last CAP Review: Next CAP Review: Last Review cord_blood_as_a_source_of_stem_cells 2/2001 3/2015 3/2016 3/2015 Description

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy File Name: Origination: Last CAP Review: Next CAP Review: Last Review: digital_breast_tomosynthesis 3/2011 6/2015 6/2016 12/2015 Description of Procedure or Service Conventional

More information

Corporate Medical Policy Automated Percutaneous and Endoscopic Discectomy

Corporate Medical Policy Automated Percutaneous and Endoscopic Discectomy Corporate Medical Policy File Name: Origination: Last CAP Review: Next CAP Review: Last Review: percutaneous_discectomy 9/1991 5/2016 5/2017 5/2016 Description of Procedure or Service Traditionally, discectomy

More information

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

Non-invasive prenatal detection of chromosome aneuploidies using next generation sequencing: First steps towards clinical application Non-invasive prenatal detection of chromosome aneuploidies using next generation sequencing: First steps towards clinical application PD Dr. rer. nat. Markus Stumm Zentrum für Pränataldiagnostik Kudamm-199

More information

NIPT- clinical implementation and considerations

NIPT- clinical implementation and considerations NIPT- clinical implementation and considerations Dr. Mireille Bekker Gynecologist University Medical Center Utrecht, the Netherlands Relevant relations in the context of NIPT Sponsoring or funding of research

More information

Corporate Medical Policy Treatment for Severe Primary IGF-1 Deficiency

Corporate Medical Policy Treatment for Severe Primary IGF-1 Deficiency Corporate Medical Policy Treatment for Severe Primary IGF-1 Deficiency File Name: Origination: Last CAP Review: Next CAP Review: Last Review: treatment_for_severe_igf-1_deficiency 2/2006 7/2015 7/2016

More information

Corporate Medical Policy Cord Blood as a Source of Stem Cells

Corporate Medical Policy Cord Blood as a Source of Stem Cells Corporate Medical Policy Cord Blood as a Source of Stem Cells File Name: Origination: Last CAP Review: Next CAP Review: Last Review cord_blood_as_a_source_of_stem_cells 2/2001 3/2015 3/2016 3/2015 Description

More information

Aneuploidy Screening Program for Saskatchewan. Information for Health Care Providers

Aneuploidy Screening Program for Saskatchewan. Information for Health Care Providers Aneuploidy Screening Program for Saskatchewan Information for Health Care Providers Acknowledgements Special recognition goes to the following physicians who helped develop this information booklet: Dr.

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy Diagnosis and Treatment of Sacroiliac Joint Pain File Name: Origination: Last CAP Review: Next CAP Review: Last Review: diagnosis_and_treatment_of_sacroiliac_joint_pain 8/2010

More information

Corporate Medical Policy Genetic Testing for Alpha-1 Antitrypsin Deficiency

Corporate Medical Policy Genetic Testing for Alpha-1 Antitrypsin Deficiency Corporate Medical Policy Genetic Testing for Alpha-1 Antitrypsin Deficiency File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_testing_for_alpha_1_antitrypsin_deficiency 5/2012

More information

Fecal Calprotectin Test

Fecal Calprotectin Test Corporate Medical Policy File Name: Origination: Last CAP Review: Next CAP Review: Last Review: fecal_calprotectin_test 8/2009 11/2015 11/2016 11/2015 Description of Procedure or Service Fecal calprotectin

More information

Genetic Screening and Testing During Pregnancy

Genetic Screening and Testing During Pregnancy Genetic Screening and Testing During Pregnancy While most babies are born healthy and without birth defects, approximately 3-5% of all babies are born with a birth defect. Some of these babies will have

More information

Corporate Medical Policy Saturation Biopsy for Diagnosis and Staging of Prostate Cancer

Corporate Medical Policy Saturation Biopsy for Diagnosis and Staging of Prostate Cancer Corporate Medical Policy Saturation Biopsy for Diagnosis and Staging of Prostate Cancer File Name: Origination: Last CAP Review: Next CAP Review: Last Review: saturation_biopsy_for_diagnosis_and_staging_of_prostate_cancer

More information

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

The following chapter is called Preimplantation Genetic Diagnosis (PGD). Slide 1 Welcome to chapter 9. The following chapter is called "Preimplantation Genetic Diagnosis (PGD)". The author is Dr. Maria Lalioti. Slide 2 The learning objectives of this chapter are: To learn the

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy File Name: Origination: Last CAP Review: Next CAP Review: Last Review: immune_cell_function_assay 11/2009 3/2016 3/2017 3/2016 Description of Procedure or Service Careful monitoring

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy File Name: Origination: Last CAP Review: Next CAP Review: Last Review: spinal_cord_stimulation 3/1980 10/2015 10/2016 10/2015 Description of Procedure or Service Spinal cord stimulation

More information

Corporate Medical Policy Genetic Testing for Breast and Ovarian Cancer

Corporate Medical Policy Genetic Testing for Breast and Ovarian Cancer Corporate Medical Policy Genetic Testing for Breast and Ovarian Cancer File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_testing_for_breast_and_ovarian_cancer 8/1997 8/2015

More information

Executive summary. Current prenatal screening

Executive summary. Current prenatal screening Executive summary Health Council of the Netherlands. NIPT: dynamics and ethics of prenatal screening. The Hague: Health Council of the Netherlands, 2013; publication no. 2013/34. In recent years, new tests

More information

Corporate Medical Policy Hematopoietic Stem-Cell Transplantation for Breast Cancer

Corporate Medical Policy Hematopoietic Stem-Cell Transplantation for Breast Cancer Corporate Medical Policy Hematopoietic Stem-Cell Transplantation for Breast Cancer File Name: Origination: Last CAP Review: Next CAP Review: Last Review: hematopoietic_stem_cell_transplantation_for_breast_cancer

More information

Corporate Medical Policy Urinary Tumor Markers for Bladder Cancer

Corporate Medical Policy Urinary Tumor Markers for Bladder Cancer Corporate Medical Policy Urinary Tumor Markers for Bladder Cancer File Name: Origination: Last CAP Review: Next CAP Review: Last Review: urinary_tumor_markers_for_bladder_cancer 5/2011 11/2015 11/2016

More information

PGD: Preimplantation Genetic Diagnosis

PGD: Preimplantation Genetic Diagnosis Testing on Embryo PGD, PND Mohammad Keramatipour MD, PhD Keramatipour@tums.ac.ir Testing on Embryos Pre-implantation Genetic Diagnosis (PGD) Early embryo Pre-natal Diagnosis (PND) First trimester Second

More information

Prenatal Screening for Trisomy 21: Recent Advances and Guidelines

Prenatal Screening for Trisomy 21: Recent Advances and Guidelines Prenatal Screening for Trisomy 21: Recent Advances and Guidelines Jacob Canick, PhD Alpert Medical School of Brown University Women & Infants Hospital Providence, RI, USA 2 nd IFCC-Ortho Clinical Diagnostics

More information

Lecture 32: Numerical Chromosomal Abnormalities and Nondisjunction. Meiosis I Meiosis II Centromere-linked markers

Lecture 32: Numerical Chromosomal Abnormalities and Nondisjunction. Meiosis I Meiosis II Centromere-linked markers Lecture 32: Numerical Chromosomal Abnormalities and Nondisjunction Meiosis I Meiosis II Centromere-linked markers Female Male 46,XX 46,XY Human chromosomal abnormalities may be numerical or structural.

More information

Corporate Medical Policy Fetal RHD Genotyping Using Maternal Plasma

Corporate Medical Policy Fetal RHD Genotyping Using Maternal Plasma Corporate Medical Policy Fetal RHD Genotyping Using Maternal Plasma File Name: Origination: Last CAP Review: Next CAP Review: Last Review: fetal_rhd_genotyping_using_maternal_plasma 1/2014 9/2015 9/2016

More information

Noninvasive Prenatal Testing (NIPT): The Next Best Aneuploidy Screen?

Noninvasive Prenatal Testing (NIPT): The Next Best Aneuploidy Screen? Noninvasive Prenatal Testing (NIPT): The Next Best Aneuploidy Screen? Becky Crosetto, MGC, LCGC Maureen Cantwell, MS, LCGC Regional Maternal-Fetal Medicine If you currently do not know a lot about this

More information

Corporate Medical Policy Implantation of Intrastromal Corneal Ring Segments

Corporate Medical Policy Implantation of Intrastromal Corneal Ring Segments Corporate Medical Policy Implantation of Intrastromal Corneal Ring Segments File Name: Origination: Last CAP Review: Next CAP Review: Last Review: implantation_of_intrastromal_corneal_ring_segments 8/2008

More information

Prenatal diagnosis of rare diseases. Kelly Cohen Consultant in Fetal Medicine Leeds General Infirmary

Prenatal diagnosis of rare diseases. Kelly Cohen Consultant in Fetal Medicine Leeds General Infirmary Prenatal diagnosis of rare diseases Kelly Cohen Consultant in Fetal Medicine Leeds General Infirmary FETAL ANOMALIES, SB, MISCARRIAGES RARE DISEASES 20% of the postnatal exomes in the DDD had an abnormal

More information

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

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

More information

BRIAR HILL MIDWIVES PRENATAL TESTING OPTIONS

BRIAR HILL MIDWIVES PRENATAL TESTING OPTIONS BRIAR HILL MIDWIVES PRENATAL TESTING OPTIONS Women face many choices in their pregnancy and want to make decisions that are best for themselves, their baby and their family. The decision to proceed with

More information

GENETICS LABORATORIES GENETICS LABORATORIES. Prenatal Chromosomal Microarray

GENETICS LABORATORIES GENETICS LABORATORIES. Prenatal Chromosomal Microarray GENETICS LABORATORIES GENETICS LABORATORIES Prenatal Chromosomal Microarray Many couples face important decisions regarding the type of prenatal testing they wish to have for their current pregnancy. For

More information

Prenatal screening and diagnostic tests

Prenatal screening and diagnostic tests Prenatal screening and diagnostic tests Contents Introduction 3 First trimester routine tests in the mother 3 Testing for health conditions in the baby 4 Why would you have a prenatal test? 6 What are

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy Complementary and Alternative Medicine File Name: Origination: Last CAP Review: Next CAP Review: Last Review: complementary_and_alternative_medicine 12/2007 2/2016 2/2017 2/2016

More information

Information for Your Patients

Information for Your Patients Information for Your Patients What is first trimester risk assessment for Down syndrome? First trimester screening for Down syndrome, also known as nuchal translucency screening, is a test offered to women

More information

Innovators in Reproductive Genetics

Innovators in Reproductive Genetics ANEUPLOIDY DIAGNOSTICS DIAGNOSTICS EXCELLENCE 6182 DIAGNOSTICS PERFORMED OVER 10 YEARS OF EXPERIENCE PGS-NGS 360 PGD DIAGNOSIS SINCE 2005 TRANSLOCATION DIAGNOSIS NEXT GENERATION SEQUENCING Innovators in

More information

PrenaTest. Information for health care professionals

PrenaTest. Information for health care professionals PrenaTest The non-invasive molecular genetic prenatal test for fetal trisomy 13, 18 and 21 using next generation sequencing and z-score calculation following DNA isolation from maternal plasma Information

More information

A Patient Counseling Guide for Reproductive Genetics. Educational content provided by

A Patient Counseling Guide for Reproductive Genetics. Educational content provided by A Patient Counseling Guide for Reproductive Educational content provided by Table of contents 3 12 37 44 51 54 57 This Counseling Guide is intended to offer health care providers basic information on genetic

More information

genetic carrier screening for spinal muscular atrophy results You Can trust

genetic carrier screening for spinal muscular atrophy results You Can trust genetic carrier screening for spinal muscular atrophy results You Can trust Spinal Muscular Atrophy (SMA) Carrier screening What Is SMA Carrier screening? Carrier screening tests help identify individuals

More information

Non-invasive prenatal testing. Contents:

Non-invasive prenatal testing. Contents: february 2014 A REGULAR CASE-BASED SERIES ON PRACTICAL PATHOLOGY FOR GPs Contents: What is non-invasive prenatal testing? Screening test vs diagnostic tests Case studies Who should be offered NIPT? Non-invasive

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy File Name: Origination: Last CAP Review: Next CAP Review: Last Review: testing_serum_vitamin_d_levels 9/2015 2/2016 2/2017 2/2016 Description of Procedure or Service Vitamin D,

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy File Name: Origination: Last CAP Review: Next CAP Review: Last Review: renal_kidney_transplantation 4/1980 4/2016 4/2017 4/2016 Description of Procedure or Service A kidney transplant

More information

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

CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA Cytogenetics is the study of chromosomes and their structure, inheritance, and abnormalities. Chromosome abnormalities occur in approximately:

More information

PROVIDER POLICIES & PROCEDURES

PROVIDER POLICIES & PROCEDURES PROVIDER POLICIES & PROCEDURES GENETIC TESTING The primary purpose of this document is to assist providers enrolled in the Connecticut Medical Assistance Program (CMAP) with the information needed to support

More information

Prenatal Testing Nuchal Translucency and Beyond What Does is Mean?

Prenatal Testing Nuchal Translucency and Beyond What Does is Mean? Prenatal Testing Nuchal Translucency and What Does is Mean? William J. Polzin, M.D. Co-Director, Fetal Care Center of Cincinnati Director, Division of Maternal-Fetal Medicine Good Samaritan Hospital Cincinnati,

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy File Name: Origination: Last CAP Review: Next CAP Review: Last Review: hematopoietic_stem-cell_transplantation_for_epithelial_ovarian_cancer 2/2001 11/2015 11/2016 11/2015 Description

More information

MASSIVELY PARALLEL SEQUENCING OF MATE RNAL PLASMA DNA IN 113 CASES OF FETAL NUCHAL CYSTIC HYGROMA

MASSIVELY PARALLEL SEQUENCING OF MATE RNAL PLASMA DNA IN 113 CASES OF FETAL NUCHAL CYSTIC HYGROMA Scuola di specializzazione in Genetica Medica Journal Club 14 gennaio 2014 MASSIVELY PARALLEL SEQUENCING OF MATE RNAL PLASMA DNA IN 113 CASES OF FETAL NUCHAL CYSTIC HYGROMA Bianchi, Diana W. MD; Prosen,

More information

Panorama Non-Invasive Prenatal Screening for Microdeletion Syndromes

Panorama Non-Invasive Prenatal Screening for Microdeletion Syndromes 1 Panorama Non-Invasive Prenatal Screening for Microdeletion Syndromes MEGAN P. HALL, PH.D. INTRODUCTION Panorama TM is a non-invasive prenatal screening test for fetal chromosomal anomalies. The screening

More information

Chapter 2. Scientific basis

Chapter 2. Scientific basis 7 Chapter 2 Scientific basis What genes are 2.1 The inheritance of all our characteristics, including susceptibility to genetic diseases, is dependent on genes and chromosomes. Genes are large molecules

More information

First Trimester Screening for Down Syndrome

First Trimester Screening for Down Syndrome First Trimester Screening for Down Syndrome What is first trimester risk assessment for Down syndrome? First trimester screening for Down syndrome, also known as nuchal translucency screening, is a test

More information

9/18/2014. How has the presentation of NIPS changed in recent years? How do we make sense of the different statistical terms?

9/18/2014. How has the presentation of NIPS changed in recent years? How do we make sense of the different statistical terms? It is a common misconception among patients that NIPT is diagnostic in value. These beliefs are often based on the misconceptions formed by seeing advertised testing sensitivity and specificity reported

More information

Mary E. Norton, MD Regional Director, Perinatal Genetic Services Kaiser Permanente, Northern California

Mary E. Norton, MD Regional Director, Perinatal Genetic Services Kaiser Permanente, Northern California Prenatal Genetic Testing in 2007 Mary E. Norton, MD Regional Director, Perinatal Genetic Services Kaiser Permanente, Northern California Prenatal genetic testing Significant changes in past several years:

More information

A noninvasive prenatal test to help you prepare for life.

A noninvasive prenatal test to help you prepare for life. PRENATAL SCREEN A noninvasive prenatal test to help you prepare for life. Prepare for life. Congratulations on your pregnancy! As an expectant mother, you probably want to do everything you can to prepare

More information

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

New Prenatal Tests for Down Syndrome: Brian G. Skotko, MD, MPP Co-Director, Down Syndrome Program Massachusetts General Hospital New Prenatal Tests for Down Syndrome: International Updates and What This All Means for Your Family Brian G. Skotko, MD, MPP Co-Director, Down Syndrome Program Massachusetts General Hospital Band of Angels

More information

Corporate Reimbursement Policy

Corporate Reimbursement Policy Corporate Reimbursement Policy Co-Surgeon, Assistant Surgeon, Team Surgeon and Assistant-at-Surgery Guidelines File Name: Origination: Last Review: Next Review: co-surgeon_assistant_surgeon_and_assistant_at_surgery_guidelines

More information