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Harmony PRENATAL TEST Sample Reports
Clear ANSWERS to Questions that Matter
Harmony Harmony (low-risk) 1
Fetal Sex Option Harmony + Fetal Sex (low-risk) 2 Harmony + Fetal Sex (high-risk T21) 3
Harmony + Fetal Sex (low-risk twins) 4
Monosomy X Option Harmony + Monosomy X (monosomy X) 5
Sex Chromosome Aneuploidy Option Harmony + SCA (low-risk) 6 Harmony + SCA + Fetal Sex (low-risk) 7 Harmony + SCA + Fetal Sex (XXY) 8 Harmony + SCA + Fetal Sex (XXX) 9
Table of Contents
1
Patient and Provider InformationPATIENT NAME:
DATE OF BIRTH:(MM/DD/YYYY)
MRN:
LABORATORY ID: OTHER ID:
GESTATIONAL AGE:
# OF FETUSES: IVF STATUS:
COLLECTION DATE (MM/DD/YYYY) : RECEIVED DATE (MM/DD/YYYY) :
ACCOUNT #:
CLINIC NAME:
REFERRING/ORDERING CLINICIAN:
REFERRING/ORDERING CLINICIAN FAX #:
OTHER CLINICIAN:
OTHER CLINICIAN FAX #:
REPORT DATE:(MM/DD/YYYY)
Questions:
US: (855) 927-4672
Intl: +1 (925) 854-6246
Jane Doe
01/01/1970
1234567890123456789
AD12345678-PAT 00123456789012345XZY
10 wks 5 days
1 non-IVF pregnancy
07/20/2015 07/21/2015
7654321
The Clinic Offering Test
Ordering Physician MD
123-456-7890
Genetic Counselor MA, CGC
987-654-3210
07/28/2015
Laboratory Director: Jack Ji, PhD, FACMG
CLIA # 05D2032812 STATE # CLF 341864TP-00115-F1 Rev 13.0
Test Results
CHROMOSOME RESULT PROBABILITY RECOMMENDATION
TEST DESCRIPTION The Harmony™ Prenatal Tests measure the relative proportion of chromosomes to aid in the riskassessment of fetal trisomies 21, 18, and 13. The laboratory developed tests perform a directedanalysis of cell-free DNA (cfDNA) in maternal blood and incorporate the fetal fraction of cfDNA intest results. Test results also incorporate maternal age (or egg donor age) and gestational agerelated risk based on information provided on the test requisition form. Tests have beenvalidated in singleton and twin pregnancies of at least 10 weeks gestational age. Tests are neitherintended nor validated for diagnosis or for use in pregnancies with more than two fetuses,mosaicism, partial chromosome aneuploidy, translocations, or maternal aneuploidy. Harmonydoes not detect neural tube defects. Twin results reflect the probability that the pregnancyinvolves at least one affected fetus. Analysis of cfDNA does not always correlate with fetalgenotype. Not all aneuploid fetuses will be classified as high risk and some euploid fetuses willhave a high risk result. The Harmony Prenatal Tests are not diagnostic tests and results should beconsidered with other clinical criteria and communicated in a setting that includes appropriatecounseling.
CLINICAL DATA
Detection Rate
> 99%(95% CI: 97.9-99.8%)
97.4%(95% CI: 93.4-99.0%)
93.8%(95% CI: 79.9-98.3%)
False Positive Rate
< 0.1%(95% CI: 0.02-0.07%)
< 0.1%(95% CI: 0.01-0.05%)
< 0.1%(95% CI: 0.01-0.06%)
Detection and false positive (discordant result) rates based on risk cut-off of 1/100 (1%) and onsingleton, non egg donor pregnancies. Because these conditions are rare, limited numbers of
aneuploidy twin and egg donor pregnancies have been evaluated. The negative predictive valuefor Trisomy 21, 18, and 13 is greater than 99%. Positive predictive value (PPV) varies by
prevalence. The probability result reported is not equivalent to the PPV. For more informationregarding PPV refer to: http://www.ariosadx.com
REFERENCES: Sparks AB et al. Am J Obstet Gynecol 2012; 206:319.e1–9; Norton ME et al. Am J Obstet Gynecol 2012; 207:137.e1–8; Nicolaides KH et al. Am J Obstet Gynecol 2012; 207:374.e1–6; Ashoor G et al. Ultrasound Obstet Gynecol 2013; 41(1):21–5;Verweij EJ et al. Prenat Diagn 2013; 33:996–1001; Gil MM et al. Fetal Diagn Ther 2013; 35:1-6; Juneau K et al. Fetal Diagn Ther 2014; 36:282–6; Norton ME et al. N Engl J Med 2015; 372:1589–97; Data on file.
The Harmony Prenatal Tests are intended for clinical use and should not be regarded as investigational or for research. The tests have been developed, and the performance characteristics determined, by the AriosaDiagnostics Clinical Laboratory, which is certified under the Clinical Laboratory Improvement Act of 1988 (CLIA) as qualified to perform high complexity clinical testing. The Harmony Prenatal tests have not been cleared orapproved by the U.S. Food and Drug Administration.
Fetal cfDNA Percentage: 10.5%
21
Trisomy 21 (T21) Low Risk Less than 1/10,000 (0.01%) Review results with patient
18
Trisomy 18 (T18) Low Risk Less than 1/10,000 (0.01%) Review results with patient
13
Trisomy 13 (T13) Low Risk Less than 1/10,000 (0.01%) Review results with patient
2
Patient and Provider InformationPATIENT NAME:
DATE OF BIRTH:(MM/DD/YYYY)
MRN:
LABORATORY ID: OTHER ID:
GESTATIONAL AGE:
# OF FETUSES: IVF STATUS:
COLLECTION DATE (MM/DD/YYYY) : RECEIVED DATE (MM/DD/YYYY) :
ACCOUNT #:
CLINIC NAME:
REFERRING/ORDERING CLINICIAN:
REFERRING/ORDERING CLINICIAN FAX #:
OTHER CLINICIAN:
OTHER CLINICIAN FAX #:
REPORT DATE:(MM/DD/YYYY)
Questions:
US: (855) 927-4672
Intl: +1 (925) 854-6246
Jane Doe
01/01/1970
1234567890123456789
AD12345678-PAT 00123456789012345XZY
10 wks 5 days
1 non-IVF pregnancy
07/20/2015 07/21/2015
7654321
The Clinic Offering Test
Ordering Physician MD
123-456-7890
Genetic Counselor MA, CGC
987-654-3210
07/28/2015
Laboratory Director: Jack Ji, PhD, FACMG
CLIA # 05D2032812 STATE # CLF 341864TP-00115-F1 Rev 13.0
Test Results
CHROMOSOME RESULT PROBABILITY RECOMMENDATION
TEST DESCRIPTION The Harmony™ Prenatal Tests measure the relative proportion of chromosomes to aid in the riskassessment of fetal trisomies 21, 18, and 13. The laboratory developed tests perform a directed analysis ofcell-free DNA (cfDNA) in maternal blood and incorporate the fetal fraction of cfDNA in test results. Testresults also incorporate maternal age (or egg donor age) and gestational age related risk based oninformation provided on the test requisition form. Tests have been validated in singleton and twinpregnancies of at least 10 weeks gestational age. Tests are neither intended nor validated for diagnosis or foruse in pregnancies with more than two fetuses, mosaicism, partial chromosome aneuploidy, translocations, ormaternal aneuploidy. Harmony does not detect neural tube defects. Twin results reflect the probability thatthe pregnancy involves at least one affected fetus. Analysis of cfDNA does not always correlate with fetalgenotype. Not all aneuploid fetuses will be classified as high risk and some euploid fetuses will have a highrisk result. The Harmony Prenatal Tests are not diagnostic tests and results should be considered with otherclinical criteria and communicated in a setting that includes appropriate counseling. Fetal Sex test quantifies the Y chromosome. A “female” result indicates absence of Y chromosome and a“male” result indicates presence of Y chromosome. It does not exclude sex chromosome aneuploidy. Fortwin pregnancies, a male result indicates one or two male fetuses.
CLINICAL DATA
Detection Rate
> 99%(95% CI: 97.9-99.8%)
97.4%(95% CI: 93.4-99.0%)
93.8%(95% CI: 79.9-98.3%)
False Positive Rate
< 0.1%(95% CI: 0.02-0.07%)
< 0.1%(95% CI: 0.01-0.05%)
< 0.1%(95% CI: 0.01-0.06%)
Detection and false positive (discordant result) rates based on risk cut-off of 1/100 (1%) and onsingleton, non egg donor pregnancies. Because these conditions are rare, limited numbers of
aneuploidy twin and egg donor pregnancies have been evaluated. The negative predictive valuefor Trisomy 21, 18, and 13 is greater than 99%. Positive predictive value (PPV) varies by
prevalence. The probability result reported is not equivalent to the PPV. For more informationregarding PPV refer to: http://www.ariosadx.com
Fetal Sex: > 99% accuracy for male or female sex (95% CI: 99.2-100%)
REFERENCES: Sparks AB et al. Am J Obstet Gynecol 2012; 206:319.e1–9; Norton ME et al. Am J Obstet Gynecol 2012; 207:137.e1–8; Nicolaides KH et al. Am J Obstet Gynecol 2012; 207:374.e1–6; Ashoor G et al. Ultrasound Obstet Gynecol 2013; 41(1):21–5;Verweij EJ et al. Prenat Diagn 2013; 33:996–1001; Gil MM et al. Fetal Diagn Ther 2013; 35:1-6; Juneau K et al. Fetal Diagn Ther 2014; 36:282–6; Norton ME et al. N Engl J Med 2015; 372:1589–97; Data on file.
The Harmony Prenatal Tests are intended for clinical use and should not be regarded as investigational or for research. The tests have been developed, and the performance characteristics determined, by the AriosaDiagnostics Clinical Laboratory, which is certified under the Clinical Laboratory Improvement Act of 1988 (CLIA) as qualified to perform high complexity clinical testing. The Harmony Prenatal tests have not been cleared orapproved by the U.S. Food and Drug Administration.
Fetal cfDNA Percentage: 10.5%
21
Trisomy 21 (T21) Low Risk Less than 1/10,000 (0.01%) Review results with patient
18
Trisomy 18 (T18) Low Risk Less than 1/10,000 (0.01%) Review results with patient
13
Trisomy 13 (T13) Low Risk Less than 1/10,000 (0.01%) Review results with patient
Fetal Sex Male
3
Patient and Provider InformationPATIENT NAME:
DATE OF BIRTH:(MM/DD/YYYY)
MRN:
LABORATORY ID: OTHER ID:
GESTATIONAL AGE:
# OF FETUSES: IVF STATUS:
COLLECTION DATE (MM/DD/YYYY) : RECEIVED DATE (MM/DD/YYYY) :
ACCOUNT #:
CLINIC NAME:
REFERRING/ORDERING CLINICIAN:
REFERRING/ORDERING CLINICIAN FAX #:
OTHER CLINICIAN:
OTHER CLINICIAN FAX #:
REPORT DATE:(MM/DD/YYYY)
Questions:
US: (855) 927-4672
Intl: +1 (925) 854-6246
Jane Doe
01/01/1970
1234567890123456789
AD12345678-PAT 00123456789012345XZY
10 wks 5 days
1 non-IVF pregnancy
07/20/2015 07/21/2015
7654321
The Clinic Offering Test
Ordering Physician MD
123-456-7890
Genetic Counselor MA, CGC
987-654-3210
07/28/2015
Laboratory Director: Jack Ji, PhD, FACMG
CLIA # 05D2032812 STATE # CLF 341864TP-00115-F1 Rev 13.0
Test Results
CHROMOSOME RESULT PROBABILITY RECOMMENDATION
TEST DESCRIPTION The Harmony™ Prenatal Tests measure the relative proportion of chromosomes to aid in the riskassessment of fetal trisomies 21, 18, and 13. The laboratory developed tests perform a directed analysis ofcell-free DNA (cfDNA) in maternal blood and incorporate the fetal fraction of cfDNA in test results. Testresults also incorporate maternal age (or egg donor age) and gestational age related risk based oninformation provided on the test requisition form. Tests have been validated in singleton and twinpregnancies of at least 10 weeks gestational age. Tests are neither intended nor validated for diagnosis or foruse in pregnancies with more than two fetuses, mosaicism, partial chromosome aneuploidy, translocations, ormaternal aneuploidy. Harmony does not detect neural tube defects. Twin results reflect the probability thatthe pregnancy involves at least one affected fetus. Analysis of cfDNA does not always correlate with fetalgenotype. Not all aneuploid fetuses will be classified as high risk and some euploid fetuses will have a highrisk result. The Harmony Prenatal Tests are not diagnostic tests and results should be considered with otherclinical criteria and communicated in a setting that includes appropriate counseling. Fetal Sex test quantifies the Y chromosome. A “female” result indicates absence of Y chromosome and a“male” result indicates presence of Y chromosome. It does not exclude sex chromosome aneuploidy. Fortwin pregnancies, a male result indicates one or two male fetuses.
CLINICAL DATA
Detection Rate
> 99%(95% CI: 97.9-99.8%)
97.4%(95% CI: 93.4-99.0%)
93.8%(95% CI: 79.9-98.3%)
False Positive Rate
< 0.1%(95% CI: 0.02-0.07%)
< 0.1%(95% CI: 0.01-0.05%)
< 0.1%(95% CI: 0.01-0.06%)
Detection and false positive (discordant result) rates based on risk cut-off of 1/100 (1%) and onsingleton, non egg donor pregnancies. Because these conditions are rare, limited numbers of
aneuploidy twin and egg donor pregnancies have been evaluated. The negative predictive valuefor Trisomy 21, 18, and 13 is greater than 99%. Positive predictive value (PPV) varies by
prevalence. The probability result reported is not equivalent to the PPV. For more informationregarding PPV refer to: http://www.ariosadx.com
Fetal Sex: > 99% accuracy for male or female sex (95% CI: 99.2-100%)
REFERENCES: Sparks AB et al. Am J Obstet Gynecol 2012; 206:319.e1–9; Norton ME et al. Am J Obstet Gynecol 2012; 207:137.e1–8; Nicolaides KH et al. Am J Obstet Gynecol 2012; 207:374.e1–6; Ashoor G et al. Ultrasound Obstet Gynecol 2013; 41(1):21–5;Verweij EJ et al. Prenat Diagn 2013; 33:996–1001; Gil MM et al. Fetal Diagn Ther 2013; 35:1-6; Juneau K et al. Fetal Diagn Ther 2014; 36:282–6; Norton ME et al. N Engl J Med 2015; 372:1589–97; Data on file.
The Harmony Prenatal Tests are intended for clinical use and should not be regarded as investigational or for research. The tests have been developed, and the performance characteristics determined, by the AriosaDiagnostics Clinical Laboratory, which is certified under the Clinical Laboratory Improvement Act of 1988 (CLIA) as qualified to perform high complexity clinical testing. The Harmony Prenatal tests have not been cleared orapproved by the U.S. Food and Drug Administration.
Fetal cfDNA Percentage: 10.5%
21
HIGH RISK RESULT
Trisomy 21 (T21) High Risk Greater than 99/100 (99%) Genetic counseling and additional testing
18
Trisomy 18 (T18) Low Risk Less than 1/10,000 (0.01%) Review results with patient
13
Trisomy 13 (T13) Low Risk Less than 1/10,000 (0.01%) Review results with patient
Fetal Sex Male
4
Patient and Provider InformationPATIENT NAME:
DATE OF BIRTH:(MM/DD/YYYY)
MRN:
LABORATORY ID: OTHER ID:
GESTATIONAL AGE:
# OF FETUSES: IVF STATUS:
COLLECTION DATE (MM/DD/YYYY) : RECEIVED DATE (MM/DD/YYYY) :
ACCOUNT #:
CLINIC NAME:
REFERRING/ORDERING CLINICIAN:
REFERRING/ORDERING CLINICIAN FAX #:
OTHER CLINICIAN:
OTHER CLINICIAN FAX #:
REPORT DATE:(MM/DD/YYYY)
Questions:
US: (855) 927-4672
Intl: +1 (925) 854-6246
Jane Doe
01/01/1970
1234567890123456789
AD12345678-PAT 00123456789012345XZY
10 wks 5 days
2 non-IVF pregnancy
07/20/2015 07/21/2015
7654321
The Clinic Offering Test
Ordering Physician MD
123-456-7890
Genetic Counselor MA, CGC
987-654-3210
07/28/2015
Laboratory Director: Jack Ji, PhD, FACMG
CLIA # 05D2032812 STATE # CLF 341864TP-00115-F1 Rev 13.0
Test Results
CHROMOSOME RESULT PROBABILITY RECOMMENDATION
TEST DESCRIPTION The Harmony™ Prenatal Tests measure the relative proportion of chromosomes to aid in the riskassessment of fetal trisomies 21, 18, and 13. The laboratory developed tests perform a directed analysis ofcell-free DNA (cfDNA) in maternal blood and incorporate the fetal fraction of cfDNA in test results. Testresults also incorporate maternal age (or egg donor age) and gestational age related risk based oninformation provided on the test requisition form. Tests have been validated in singleton and twinpregnancies of at least 10 weeks gestational age. Tests are neither intended nor validated for diagnosis or foruse in pregnancies with more than two fetuses, mosaicism, partial chromosome aneuploidy, translocations, ormaternal aneuploidy. Harmony does not detect neural tube defects. Twin results reflect the probability thatthe pregnancy involves at least one affected fetus. Analysis of cfDNA does not always correlate with fetalgenotype. Not all aneuploid fetuses will be classified as high risk and some euploid fetuses will have a highrisk result. The Harmony Prenatal Tests are not diagnostic tests and results should be considered with otherclinical criteria and communicated in a setting that includes appropriate counseling. Fetal Sex test quantifies the Y chromosome. A “female” result indicates absence of Y chromosome and a“male” result indicates presence of Y chromosome. It does not exclude sex chromosome aneuploidy. Fortwin pregnancies, a male result indicates one or two male fetuses.
CLINICAL DATA
Detection Rate
> 99%(95% CI: 97.9-99.8%)
97.4%(95% CI: 93.4-99.0%)
93.8%(95% CI: 79.9-98.3%)
False Positive Rate
< 0.1%(95% CI: 0.02-0.07%)
< 0.1%(95% CI: 0.01-0.05%)
< 0.1%(95% CI: 0.01-0.06%)
Detection and false positive (discordant result) rates based on risk cut-off of 1/100 (1%) and onsingleton, non egg donor pregnancies. Because these conditions are rare, limited numbers of
aneuploidy twin and egg donor pregnancies have been evaluated. The negative predictive valuefor Trisomy 21, 18, and 13 is greater than 99%. Positive predictive value (PPV) varies by
prevalence. The probability result reported is not equivalent to the PPV. For more informationregarding PPV refer to: http://www.ariosadx.com
Fetal Sex: > 99% accuracy for male or female sex (95% CI: 99.2-100%)
REFERENCES: Sparks AB et al. Am J Obstet Gynecol 2012; 206:319.e1–9; Norton ME et al. Am J Obstet Gynecol 2012; 207:137.e1–8; Nicolaides KH et al. Am J Obstet Gynecol 2012; 207:374.e1–6; Ashoor G et al. Ultrasound Obstet Gynecol 2013; 41(1):21–5;Verweij EJ et al. Prenat Diagn 2013; 33:996–1001; Gil MM et al. Fetal Diagn Ther 2013; 35:1-6; Juneau K et al. Fetal Diagn Ther 2014; 36:282–6; Norton ME et al. N Engl J Med 2015; 372:1589–97; Data on file.
The Harmony Prenatal Tests are intended for clinical use and should not be regarded as investigational or for research. The tests have been developed, and the performance characteristics determined, by the AriosaDiagnostics Clinical Laboratory, which is certified under the Clinical Laboratory Improvement Act of 1988 (CLIA) as qualified to perform high complexity clinical testing. The Harmony Prenatal tests have not been cleared orapproved by the U.S. Food and Drug Administration.
Fetal cfDNA Percentage: 10.5%
21
Trisomy 21 (T21) Low Risk Less than 1/10,000 (0.01%) Review results with patient
18
Trisomy 18 (T18) Low Risk Less than 1/10,000 (0.01%) Review results with patient
13
Trisomy 13 (T13) Low Risk Less than 1/10,000 (0.01%) Review results with patient
Fetal Sex Male
Patient and Provider InformationPATIENT NAME:
DATE OF BIRTH:(MM/DD/YYYY)
MRN:
LABORATORY ID: OTHER ID:
GESTATIONAL AGE:
# OF FETUSES: IVF STATUS:
COLLECTION DATE (MM/DD/YYYY) : RECEIVED DATE (MM/DD/YYYY) :
ACCOUNT #:
CLINIC NAME:
REFERRING/ORDERING CLINICIAN:
REFERRING/ORDERING CLINICIAN FAX #:
OTHER CLINICIAN:
OTHER CLINICIAN FAX #:
REPORT DATE:(MM/DD/YYYY)
Questions:
US: (855) 927-4672
Intl: +1 (925) 854-6246
Jane Doe
01/01/1970
1234567890123456789
AD12345678-PAT 00123456789012345XZY
10 wks 5 days
1 non-IVF pregnancy
07/20/2015 07/21/2015
7654321
The Clinic Offering Test
Ordering Physician MD
123-456-7890
Genetic Counselor MA, CGC
987-654-3210
07/28/2015
Laboratory Director: Jack Ji, PhD, FACMG
CLIA # 05D2032812 STATE # CLF 341864TP-00115-F1 Rev 13.0
Test Results
CHROMOSOME RESULT PROBABILITY RECOMMENDATION
TEST DESCRIPTION The Harmony™ Prenatal Tests measure the relative proportion of chromosomes to aid in the riskassessment of fetal trisomies 21, 18, and 13. The laboratory developed tests perform a directed analysis ofcell-free DNA (cfDNA) in maternal blood and incorporate the fetal fraction of cfDNA in test results. Testresults also incorporate maternal age (or egg donor age) and gestational age related risk based oninformation provided on the test requisition form. Tests have been validated in singleton and twinpregnancies of at least 10 weeks gestational age. Tests are neither intended nor validated for diagnosis or foruse in pregnancies with more than two fetuses, mosaicism, partial chromosome aneuploidy, translocations, ormaternal aneuploidy. Harmony does not detect neural tube defects. Twin results reflect the probability thatthe pregnancy involves at least one affected fetus. Analysis of cfDNA does not always correlate with fetalgenotype. Not all aneuploid fetuses will be classified as high risk and some euploid fetuses will have a highrisk result. The Harmony Prenatal Tests are not diagnostic tests and results should be considered with otherclinical criteria and communicated in a setting that includes appropriate counseling. Monosomy X quantifies the X chromosome. The probability of Monosomy X is reported at risk of 1% orgreater. It does not exclude other sex chromosome aneuploidies. Monosomy X has only been validated insingleton pregnancies.
CLINICAL DATA
Detection Rate
> 99%(95% CI: 97.9-99.8%)
97.4%(95% CI: 93.4-99.0%)
93.8%(95% CI: 79.9-98.3%)
False Positive Rate
< 0.1%(95% CI: 0.02-0.07%)
< 0.1%(95% CI: 0.01-0.05%)
< 0.1%(95% CI: 0.01-0.06%)
Detection and false positive (discordant result) rates based on risk cut-off of 1/100 (1%) and onsingleton, non egg donor pregnancies. Because these conditions are rare, limited numbers of
aneuploidy twin and egg donor pregnancies have been evaluated. The negative predictive valuefor Trisomy 21, 18, and 13 is greater than 99%. Positive predictive value (PPV) varies by
prevalence. The probability result reported is not equivalent to the PPV. For more informationregarding PPV refer to: http://www.ariosadx.com
Monosomy X: Monosomy X provides probability for non-mosaic Monosomy X.Limited numbers of Monosomy X cases have been evaluated to date.
REFERENCES: Sparks AB et al. Am J Obstet Gynecol 2012; 206:319.e1–9; Norton ME et al. Am J Obstet Gynecol 2012; 207:137.e1–8; Nicolaides KH et al. Am J Obstet Gynecol 2012; 207:374.e1–6; Ashoor G et al. Ultrasound Obstet Gynecol 2013; 41(1):21–5;Verweij EJ et al. Prenat Diagn 2013; 33:996–1001; Gil MM et al. Fetal Diagn Ther 2013; 35:1-6; Juneau K et al. Fetal Diagn Ther 2014; 36:282–6; Norton ME et al. N Engl J Med 2015; 372:1589–97; Data on file.
The Harmony Prenatal Tests are intended for clinical use and should not be regarded as investigational or for research. The tests have been developed, and the performance characteristics determined, by the AriosaDiagnostics Clinical Laboratory, which is certified under the Clinical Laboratory Improvement Act of 1988 (CLIA) as qualified to perform high complexity clinical testing. The Harmony Prenatal tests have not been cleared orapproved by the U.S. Food and Drug Administration.
Fetal cfDNA Percentage: 10.5%
21
Trisomy 21 (T21) Low Risk Less than 1/10,000 (0.01%) Review results with patient
18
Trisomy 18 (T18) Low Risk Less than 1/10,000 (0.01%) Review results with patient
13
Trisomy 13 (T13) Low Risk Less than 1/10,000 (0.01%) Review results with patient
Monosomy X Monosomy X greater than 99% probability - Recommend genetic counseling
5
Patient and Provider InformationPATIENT NAME:
DATE OF BIRTH:(MM/DD/YYYY)
MRN:
LABORATORY ID: OTHER ID:
GESTATIONAL AGE:
# OF FETUSES: IVF STATUS:
COLLECTION DATE (MM/DD/YYYY) : RECEIVED DATE (MM/DD/YYYY) :
ACCOUNT #:
CLINIC NAME:
REFERRING/ORDERING CLINICIAN:
REFERRING/ORDERING CLINICIAN FAX #:
OTHER CLINICIAN:
OTHER CLINICIAN FAX #:
REPORT DATE:(MM/DD/YYYY)
Questions:
US: (855) 927-4672
Intl: +1 (925) 854-6246
Jane Doe
01/01/1970
1234567890123456789
AD12345678-PAT 00123456789012345XZY
10 wks 5 days
1 non-IVF pregnancy
07/20/2015 07/21/2015
7654321
The Clinic Offering Test
Ordering Physician MD
123-456-7890
Genetic Counselor MA, CGC
987-654-3210
07/28/2015
Laboratory Director: Jack Ji, PhD, FACMG
CLIA # 05D2032812 STATE # CLF 341864TP-00115-F1 Rev 13.0
Test Results
CHROMOSOME RESULT PROBABILITY RECOMMENDATION
TEST DESCRIPTION The Harmony™ Prenatal Tests measure the relative proportion of chromosomes to aid in the riskassessment of fetal trisomies 21, 18, and 13. The laboratory developed tests perform a directed analysis ofcell-free DNA (cfDNA) in maternal blood and incorporate the fetal fraction of cfDNA in test results. Testresults also incorporate maternal age (or egg donor age) and gestational age related risk based oninformation provided on the test requisition form. Tests have been validated in singleton and twinpregnancies of at least 10 weeks gestational age. Tests are neither intended nor validated for diagnosis or foruse in pregnancies with more than two fetuses, mosaicism, partial chromosome aneuploidy, translocations, ormaternal aneuploidy. Harmony does not detect neural tube defects. Twin results reflect the probability thatthe pregnancy involves at least one affected fetus. Analysis of cfDNA does not always correlate with fetalgenotype. Not all aneuploid fetuses will be classified as high risk and some euploid fetuses will have a highrisk result. The Harmony Prenatal Tests are not diagnostic tests and results should be considered with otherclinical criteria and communicated in a setting that includes appropriate counseling. Sex Chromosome Aneuploidy (SCA) Panel measures proportions of the X and Y chromosomes. Theprobability of sex chromosome conditions (Monosomy X, XXY, XYY, XXX, XXYY) are reported at risks of 1% orgreater. A XYY or XXYY result indicates two or more fetal Y chromosomes. Sex Chromosome AneuploidyPanel has only been validated in singleton pregnancies.
CLINICAL DATA
Detection Rate
> 99%(95% CI: 97.9-99.8%)
97.4%(95% CI: 93.4-99.0%)
93.8%(95% CI: 79.9-98.3%)
False Positive Rate
< 0.1%(95% CI: 0.02-0.07%)
< 0.1%(95% CI: 0.01-0.05%)
< 0.1%(95% CI: 0.01-0.06%)
Detection and false positive (discordant result) rates based on risk cut-off of 1/100 (1%) and onsingleton, non egg donor pregnancies. Because these conditions are rare, limited numbers of
aneuploidy twin and egg donor pregnancies have been evaluated. The negative predictive valuefor Trisomy 21, 18, and 13 is greater than 99%. Positive predictive value (PPV) varies by
prevalence. The probability result reported is not equivalent to the PPV. For more informationregarding PPV refer to: http://www.ariosadx.com
SCA Panel: SCA Panel provides probability for non-mosaic fetal sex chromosomeaneuploidies. Test performance varies by condition. Limitednumbers of sex chromosome aneuploidy cases have been evaluatedto date.
REFERENCES: Sparks AB et al. Am J Obstet Gynecol 2012; 206:319.e1–9; Norton ME et al. Am J Obstet Gynecol 2012; 207:137.e1–8; Nicolaides KH et al. Am J Obstet Gynecol 2012; 207:374.e1–6; Ashoor G et al. Ultrasound Obstet Gynecol 2013; 41(1):21–5;Verweij EJ et al. Prenat Diagn 2013; 33:996–1001; Gil MM et al. Fetal Diagn Ther 2013; 35:1-6; Juneau K et al. Fetal Diagn Ther 2014; 36:282–6; Norton ME et al. N Engl J Med 2015; 372:1589–97; Data on file.
The Harmony Prenatal Tests are intended for clinical use and should not be regarded as investigational or for research. The tests have been developed, and the performance characteristics determined, by the AriosaDiagnostics Clinical Laboratory, which is certified under the Clinical Laboratory Improvement Act of 1988 (CLIA) as qualified to perform high complexity clinical testing. The Harmony Prenatal tests have not been cleared orapproved by the U.S. Food and Drug Administration.
Fetal cfDNA Percentage: 10.5%
21
Trisomy 21 (T21) Low Risk Less than 1/10,000 (0.01%) Review results with patient
18
Trisomy 18 (T18) Low Risk Less than 1/10,000 (0.01%) Review results with patient
13
Trisomy 13 (T13) Low Risk Less than 1/10,000 (0.01%) Review results with patient
Sex Chromosome Aneuploidy Panel Low Risk
6
Patient and Provider InformationPATIENT NAME:
DATE OF BIRTH:(MM/DD/YYYY)
MRN:
LABORATORY ID: OTHER ID:
GESTATIONAL AGE:
# OF FETUSES: IVF STATUS:
COLLECTION DATE (MM/DD/YYYY) : RECEIVED DATE (MM/DD/YYYY) :
ACCOUNT #:
CLINIC NAME:
REFERRING/ORDERING CLINICIAN:
REFERRING/ORDERING CLINICIAN FAX #:
OTHER CLINICIAN:
OTHER CLINICIAN FAX #:
REPORT DATE:(MM/DD/YYYY)
Questions:
US: (855) 927-4672
Intl: +1 (925) 854-6246
Jane Doe
01/01/1970
1234567890123456789
AD12345678-PAT 00123456789012345XZY
10 wks 5 days
1 non-IVF pregnancy
07/20/2015 07/21/2015
7654321
The Clinic Offering Test
Ordering Physician MD
123-456-7890
Genetic Counselor MA, CGC
987-654-3210
07/28/2015
Laboratory Director: Jack Ji, PhD, FACMG
CLIA # 05D2032812 STATE # CLF 341864TP-00115-F1 Rev 13.0
Test Results
CHROMOSOME RESULT PROBABILITY RECOMMENDATION
TEST DESCRIPTION The Harmony™ Prenatal Tests measure the relative proportion of chromosomes to aid in the risk assessment offetal trisomies 21, 18, and 13. The laboratory developed tests perform a directed analysis of cell-free DNA (cfDNA) inmaternal blood and incorporate the fetal fraction of cfDNA in test results. Test results also incorporate maternal age(or egg donor age) and gestational age related risk based on information provided on the test requisition form. Testshave been validated in singleton and twin pregnancies of at least 10 weeks gestational age. Tests are neitherintended nor validated for diagnosis or for use in pregnancies with more than two fetuses, mosaicism, partialchromosome aneuploidy, translocations, or maternal aneuploidy. Harmony does not detect neural tube defects.Twin results reflect the probability that the pregnancy involves at least one affected fetus. Analysis of cfDNA doesnot always correlate with fetal genotype. Not all aneuploid fetuses will be classified as high risk and some euploidfetuses will have a high risk result. The Harmony Prenatal Tests are not diagnostic tests and results should beconsidered with other clinical criteria and communicated in a setting that includes appropriate counseling. Fetal Sex test quantifies the Y chromosome. A “female” result indicates absence of Y chromosome and a “male”result indicates presence of Y chromosome. It does not exclude sex chromosome aneuploidy. For twin pregnancies,a male result indicates one or two male fetuses. Sex Chromosome Aneuploidy (SCA) Panel measures proportions of the X and Y chromosomes. The probability ofsex chromosome conditions (Monosomy X, XXY, XYY, XXX, XXYY) are reported at risks of 1% or greater. A XYY orXXYY result indicates two or more fetal Y chromosomes. Sex Chromosome Aneuploidy Panel has only been validatedin singleton pregnancies.
CLINICAL DATA
Detection Rate
> 99%(95% CI: 97.9-99.8%)
97.4%(95% CI: 93.4-99.0%)
93.8%(95% CI: 79.9-98.3%)
False Positive Rate
< 0.1%(95% CI: 0.02-0.07%)
< 0.1%(95% CI: 0.01-0.05%)
< 0.1%(95% CI: 0.01-0.06%)
Detection and false positive (discordant result) rates based on risk cut-off of 1/100 (1%) and onsingleton, non egg donor pregnancies. Because these conditions are rare, limited numbers of
aneuploidy twin and egg donor pregnancies have been evaluated. The negative predictive valuefor Trisomy 21, 18, and 13 is greater than 99%. Positive predictive value (PPV) varies by
prevalence. The probability result reported is not equivalent to the PPV. For more informationregarding PPV refer to: http://www.ariosadx.com
Fetal Sex: > 99% accuracy for male or female sex (95% CI: 99.2-100%)
SCA Panel: SCA Panel provides probability for non-mosaic fetal sex chromosomeaneuploidies. Test performance varies by condition. Limitednumbers of sex chromosome aneuploidy cases have been evaluatedto date.
REFERENCES: Sparks AB et al. Am J Obstet Gynecol 2012; 206:319.e1–9; Norton ME et al. Am J Obstet Gynecol 2012; 207:137.e1–8; Nicolaides KH et al. Am J Obstet Gynecol 2012; 207:374.e1–6; Ashoor G et al. Ultrasound Obstet Gynecol 2013; 41(1):21–5;Verweij EJ et al. Prenat Diagn 2013; 33:996–1001; Gil MM et al. Fetal Diagn Ther 2013; 35:1-6; Juneau K et al. Fetal Diagn Ther 2014; 36:282–6; Norton ME et al. N Engl J Med 2015; 372:1589–97; Data on file.
The Harmony Prenatal Tests are intended for clinical use and should not be regarded as investigational or for research. The tests have been developed, and the performance characteristics determined, by the AriosaDiagnostics Clinical Laboratory, which is certified under the Clinical Laboratory Improvement Act of 1988 (CLIA) as qualified to perform high complexity clinical testing. The Harmony Prenatal tests have not been cleared orapproved by the U.S. Food and Drug Administration.
Fetal cfDNA Percentage: 10.5%
21
Trisomy 21 (T21) Low Risk Less than 1/10,000 (0.01%) Review results with patient
18
Trisomy 18 (T18) Low Risk Less than 1/10,000 (0.01%) Review results with patient
13
Trisomy 13 (T13) Low Risk Less than 1/10,000 (0.01%) Review results with patient
Fetal Sex Male
Sex Chromosome Aneuploidy Panel Low Risk
7
Patient and Provider InformationPATIENT NAME:
DATE OF BIRTH:(MM/DD/YYYY)
MRN:
LABORATORY ID: OTHER ID:
GESTATIONAL AGE:
# OF FETUSES: IVF STATUS:
COLLECTION DATE (MM/DD/YYYY) : RECEIVED DATE (MM/DD/YYYY) :
ACCOUNT #:
CLINIC NAME:
REFERRING/ORDERING CLINICIAN:
REFERRING/ORDERING CLINICIAN FAX #:
OTHER CLINICIAN:
OTHER CLINICIAN FAX #:
REPORT DATE:(MM/DD/YYYY)
Questions:
US: (855) 927-4672
Intl: +1 (925) 854-6246
Jane Doe
01/01/1970
1234567890123456789
AD12345678-PAT 00123456789012345XZY
10 wks 5 days
1 non-IVF pregnancy
07/20/2015 07/21/2015
7654321
The Clinic Offering Test
Ordering Physician MD
123-456-7890
Genetic Counselor MA, CGC
987-654-3210
07/28/2015
Laboratory Director: Jack Ji, PhD, FACMG
CLIA # 05D2032812 STATE # CLF 341864TP-00115-F1 Rev 13.0
Test Results
CHROMOSOME RESULT PROBABILITY RECOMMENDATION
TEST DESCRIPTION The Harmony™ Prenatal Tests measure the relative proportion of chromosomes to aid in the risk assessment offetal trisomies 21, 18, and 13. The laboratory developed tests perform a directed analysis of cell-free DNA (cfDNA) inmaternal blood and incorporate the fetal fraction of cfDNA in test results. Test results also incorporate maternal age(or egg donor age) and gestational age related risk based on information provided on the test requisition form. Testshave been validated in singleton and twin pregnancies of at least 10 weeks gestational age. Tests are neitherintended nor validated for diagnosis or for use in pregnancies with more than two fetuses, mosaicism, partialchromosome aneuploidy, translocations, or maternal aneuploidy. Harmony does not detect neural tube defects.Twin results reflect the probability that the pregnancy involves at least one affected fetus. Analysis of cfDNA doesnot always correlate with fetal genotype. Not all aneuploid fetuses will be classified as high risk and some euploidfetuses will have a high risk result. The Harmony Prenatal Tests are not diagnostic tests and results should beconsidered with other clinical criteria and communicated in a setting that includes appropriate counseling. Fetal Sex test quantifies the Y chromosome. A “female” result indicates absence of Y chromosome and a “male”result indicates presence of Y chromosome. It does not exclude sex chromosome aneuploidy. For twin pregnancies,a male result indicates one or two male fetuses. Sex Chromosome Aneuploidy (SCA) Panel measures proportions of the X and Y chromosomes. The probability ofsex chromosome conditions (Monosomy X, XXY, XYY, XXX, XXYY) are reported at risks of 1% or greater. A XYY orXXYY result indicates two or more fetal Y chromosomes. Sex Chromosome Aneuploidy Panel has only been validatedin singleton pregnancies.
CLINICAL DATA
Detection Rate
> 99%(95% CI: 97.9-99.8%)
97.4%(95% CI: 93.4-99.0%)
93.8%(95% CI: 79.9-98.3%)
False Positive Rate
< 0.1%(95% CI: 0.02-0.07%)
< 0.1%(95% CI: 0.01-0.05%)
< 0.1%(95% CI: 0.01-0.06%)
Detection and false positive (discordant result) rates based on risk cut-off of 1/100 (1%) and onsingleton, non egg donor pregnancies. Because these conditions are rare, limited numbers of
aneuploidy twin and egg donor pregnancies have been evaluated. The negative predictive valuefor Trisomy 21, 18, and 13 is greater than 99%. Positive predictive value (PPV) varies by
prevalence. The probability result reported is not equivalent to the PPV. For more informationregarding PPV refer to: http://www.ariosadx.com
Fetal Sex: > 99% accuracy for male or female sex (95% CI: 99.2-100%)
SCA Panel: SCA Panel provides probability for non-mosaic fetal sex chromosomeaneuploidies. Test performance varies by condition. Limitednumbers of sex chromosome aneuploidy cases have been evaluatedto date.
REFERENCES: Sparks AB et al. Am J Obstet Gynecol 2012; 206:319.e1–9; Norton ME et al. Am J Obstet Gynecol 2012; 207:137.e1–8; Nicolaides KH et al. Am J Obstet Gynecol 2012; 207:374.e1–6; Ashoor G et al. Ultrasound Obstet Gynecol 2013; 41(1):21–5;Verweij EJ et al. Prenat Diagn 2013; 33:996–1001; Gil MM et al. Fetal Diagn Ther 2013; 35:1-6; Juneau K et al. Fetal Diagn Ther 2014; 36:282–6; Norton ME et al. N Engl J Med 2015; 372:1589–97; Data on file.
The Harmony Prenatal Tests are intended for clinical use and should not be regarded as investigational or for research. The tests have been developed, and the performance characteristics determined, by the AriosaDiagnostics Clinical Laboratory, which is certified under the Clinical Laboratory Improvement Act of 1988 (CLIA) as qualified to perform high complexity clinical testing. The Harmony Prenatal tests have not been cleared orapproved by the U.S. Food and Drug Administration.
Fetal cfDNA Percentage: 10.5%
21
Trisomy 21 (T21) Low Risk Less than 1/10,000 (0.01%) Review results with patient
18
Trisomy 18 (T18) Low Risk Less than 1/10,000 (0.01%) Review results with patient
13
Trisomy 13 (T13) Low Risk Less than 1/10,000 (0.01%) Review results with patient
Fetal Sex Male
Sex Chromosome Aneuploidy Panel XXY greater than 99% probability - Recommend genetic counseling
8
Patient and Provider InformationPATIENT NAME:
DATE OF BIRTH:(MM/DD/YYYY)
MRN:
LABORATORY ID: OTHER ID:
GESTATIONAL AGE:
# OF FETUSES: IVF STATUS:
COLLECTION DATE (MM/DD/YYYY) : RECEIVED DATE (MM/DD/YYYY) :
ACCOUNT #:
CLINIC NAME:
REFERRING/ORDERING CLINICIAN:
REFERRING/ORDERING CLINICIAN FAX #:
OTHER CLINICIAN:
OTHER CLINICIAN FAX #:
REPORT DATE:(MM/DD/YYYY)
Questions:
US: (855) 927-4672
Intl: +1 (925) 854-6246
Jane Doe
01/01/1970
1234567890123456789
AD12345678-PAT 00123456789012345XZY
10 wks 5 days
1 non-IVF pregnancy
07/20/2015 07/21/2015
7654321
The Clinic Offering Test
Ordering Physician MD
123-456-7890
Genetic Counselor MA, CGC
987-654-3210
07/28/2015
Laboratory Director: Jack Ji, PhD, FACMG
CLIA # 05D2032812 STATE # CLF 341864TP-00115-F1 Rev 13.0
Test Results
CHROMOSOME RESULT PROBABILITY RECOMMENDATION
TEST DESCRIPTION The Harmony™ Prenatal Tests measure the relative proportion of chromosomes to aid in the risk assessment offetal trisomies 21, 18, and 13. The laboratory developed tests perform a directed analysis of cell-free DNA (cfDNA) inmaternal blood and incorporate the fetal fraction of cfDNA in test results. Test results also incorporate maternal age(or egg donor age) and gestational age related risk based on information provided on the test requisition form. Testshave been validated in singleton and twin pregnancies of at least 10 weeks gestational age. Tests are neitherintended nor validated for diagnosis or for use in pregnancies with more than two fetuses, mosaicism, partialchromosome aneuploidy, translocations, or maternal aneuploidy. Harmony does not detect neural tube defects.Twin results reflect the probability that the pregnancy involves at least one affected fetus. Analysis of cfDNA doesnot always correlate with fetal genotype. Not all aneuploid fetuses will be classified as high risk and some euploidfetuses will have a high risk result. The Harmony Prenatal Tests are not diagnostic tests and results should beconsidered with other clinical criteria and communicated in a setting that includes appropriate counseling. Fetal Sex test quantifies the Y chromosome. A “female” result indicates absence of Y chromosome and a “male”result indicates presence of Y chromosome. It does not exclude sex chromosome aneuploidy. For twin pregnancies,a male result indicates one or two male fetuses. Sex Chromosome Aneuploidy (SCA) Panel measures proportions of the X and Y chromosomes. The probability ofsex chromosome conditions (Monosomy X, XXY, XYY, XXX, XXYY) are reported at risks of 1% or greater. A XYY orXXYY result indicates two or more fetal Y chromosomes. Sex Chromosome Aneuploidy Panel has only been validatedin singleton pregnancies.
CLINICAL DATA
Detection Rate
> 99%(95% CI: 97.9-99.8%)
97.4%(95% CI: 93.4-99.0%)
93.8%(95% CI: 79.9-98.3%)
False Positive Rate
< 0.1%(95% CI: 0.02-0.07%)
< 0.1%(95% CI: 0.01-0.05%)
< 0.1%(95% CI: 0.01-0.06%)
Detection and false positive (discordant result) rates based on risk cut-off of 1/100 (1%) and onsingleton, non egg donor pregnancies. Because these conditions are rare, limited numbers of
aneuploidy twin and egg donor pregnancies have been evaluated. The negative predictive valuefor Trisomy 21, 18, and 13 is greater than 99%. Positive predictive value (PPV) varies by
prevalence. The probability result reported is not equivalent to the PPV. For more informationregarding PPV refer to: http://www.ariosadx.com
Fetal Sex: > 99% accuracy for male or female sex (95% CI: 99.2-100%)
SCA Panel: SCA Panel provides probability for non-mosaic fetal sex chromosomeaneuploidies. Test performance varies by condition. Limitednumbers of sex chromosome aneuploidy cases have been evaluatedto date.
REFERENCES: Sparks AB et al. Am J Obstet Gynecol 2012; 206:319.e1–9; Norton ME et al. Am J Obstet Gynecol 2012; 207:137.e1–8; Nicolaides KH et al. Am J Obstet Gynecol 2012; 207:374.e1–6; Ashoor G et al. Ultrasound Obstet Gynecol 2013; 41(1):21–5;Verweij EJ et al. Prenat Diagn 2013; 33:996–1001; Gil MM et al. Fetal Diagn Ther 2013; 35:1-6; Juneau K et al. Fetal Diagn Ther 2014; 36:282–6; Norton ME et al. N Engl J Med 2015; 372:1589–97; Data on file.
The Harmony Prenatal Tests are intended for clinical use and should not be regarded as investigational or for research. The tests have been developed, and the performance characteristics determined, by the AriosaDiagnostics Clinical Laboratory, which is certified under the Clinical Laboratory Improvement Act of 1988 (CLIA) as qualified to perform high complexity clinical testing. The Harmony Prenatal tests have not been cleared orapproved by the U.S. Food and Drug Administration.
Fetal cfDNA Percentage: 10.5%
21
Trisomy 21 (T21) Low Risk Less than 1/10,000 (0.01%) Review results with patient
18
Trisomy 18 (T18) Low Risk Less than 1/10,000 (0.01%) Review results with patient
13
Trisomy 13 (T13) Low Risk Less than 1/10,000 (0.01%) Review results with patient
Fetal Sex Female
Sex Chromosome Aneuploidy Panel XXX greater than 99% probability - Recommend genetic counseling
9
Visit us at roche.co.nz/diagnostics/our-products/harmony
HARMONY and HARMONY and Design are trademarks of Ariosa Diagnostics, Inc. in the US. HARMONY is a trademark of Roche in other countries. All other trademarks are the propertyof their respective owners.
Harmony is a non-invasive prenatal test (NIPT) based on cell-free DNA analysis and is considered a prenatal screening test, not a diagnostic test. Harmony does not screen for potentialchromosomal or genetic conditions other than those expressly identifed in this document. Before making any treatment decisions, all women should discuss their results with their
Harmony Prenatal Test Options
The following test options are also available from the same blood draw:
Fetal Sex
Provides information regarding fetal sex. Assessment of fetal sex does not include risk assessment of sex chromosome aneuploidy. In twin pregnancies, a female result applies to both fetuses; a male result applies to one or both fetuses.
Monosomy X Provides monosomy X risk assessment, but no information regarding other sex chromosome aneuploidies.
Sex Chromosome Aneuploidy Panel
Provides assessment of risk of X and Y chromosome aneuploidies, including monosomy X, XXX, XXY, XYY and XXYY.
• Clear Answers Early: “High-Risk” or “Low-Risk” reporting for each trisomy
•
Personalized risk results incorporate chromosome quantification, fetal DNA fraction, gestational age, and maternal age
1-3
The Harmony Prenatal Test provides clear answers to questions that matter
PATIENT NAME:
DATE OF BIRTH:(MM/DD/YYYY)
MRN:
LABORATORY ID: OTHER ID:
GESTATIONAL AGE:
# OF FETUSES: IVF STATUS:
COLLECTION DATE (MM/DD/YYYY) : RECEIVED DATE (MM/DD/YYYY) :
ACCOUNT #:
CLINIC NAME:
REFERRING/ORDERING CLINICIAN:
REFERRING/ORDERING CLINICIAN FAX #:
OTHER CLINICIAN:
OTHER CLINICIAN FAX #:
REPORT DATE:(MM/DD/YYYY)
US: (855) 927-4672
Intl: +1 (925) 854-6246
Jane Doe
01/01/1970
1234567890123456789
AD12345678-PAT 00123456789012345XZY
10 wks 5 days
1 non-IVF pregnancy
07/20/2015 07/21/2015
7654321
The Clinic Offering Test
Ordering Physician MD
123-456-7890
987-654-3210
07/28/2015
Laboratory Director: Jack Ji, PhD, FACMGCLIA # 05D2032812 STATE # CLF 341864
TP-00115-F1 Rev 13.0
Test Results
CHROMOSOME RESULT PROBABILITY RECOMMENDATION
TEST DESCRIPTIONof chromosomes to aid in the risk
assessment of fetal trisomies 21, 18, and 13. The laboratory developed tests perform a directed analysis ofcell-free DNA (cfDNA) in maternal blood and incorporate the fetresults also incorporate maternal age (or egg donor age) and ge
been validated in singleton and twinither intended nor validated for diagnosis or for
maternal aneuploidy. Harmony does not detect neural tube defects. Twin results reflect the probability thatthe pregnancy involves at least one affected fetus. Analysis of cfDNA does not always correlate with fetalgenotype. Not all aneuploid fetuses will be classified as high risk and some euploid fetuses will have a high
ts and results should be considered with otherppropriate counseling.esult indicates absence of Y chromosome and a
“male” result indicates presence of Y chromosome. It does not exclude sex chromosome aneuploidy. Fortwin pregnancies, a male result indicates one or two male fetuses.
CLINICAL DATA
> 99%(95% CI: 97.9-99.8%)
97.4%(95% CI: 93.4-99.0%)
93.8%(95% CI: 79.9-98.3%)
< 0.1%(95% CI: 0.02-0.07%)
< 0.1%(95% CI: 0.01-0.05%)
< 0.1%(95% CI: 0.01-0.06%)
risk cut-off of 1/100 (1%) and on are rare, limited numbers of
aneuploidy twin and egg donor pregnancies have been evaluated.
prevalence. The probability result reported is not equivalent
Fetal Sex: > 99% accuracy for male or female sex (95% CI: 99.2-100%)
REFERENCES: Sparks AB et al. Am J Obstet Gynecol 2012; 206:319.e1–9; Norton ME et al. Am J Obstet Gynecol 2012; 207:137.e1–8; Nicolaides KH et al. Am J Obstet Gynecol 2012; 207:374.e1–6; Ashoor G et al. Ultrasound Obstet Gynecol 2013; 41(1):21–5;Verweij EJ et al. Prenat Diagn 2013; 33:996–1001; Gil MM et al. Fetal Diagn Ther 2013; 35:1-6; Juneau K et al. Fetal Diagn Ther 2014; 36:282–6; Norton ME et al. N Engl J Med 2015; 372:1589–97; Data on file.
The Harmony Prenatal Tests are intended for clinical use and sh etermined, by the Ariosalinical Laboratory Improvement Act of 1988 (CLIA) as qualified tal tests have not been cleared or
Fetal cfDNA Percentage: 10.5%
21
HIGH RISK RESULT
Trisomy 21 (T21) High Risk Greater than 99/100 (99%)
18
Trisomy 18 (T18) Low Risk Less than 1/10,000 (0.01%)
13
Trisomy 13 (T13) Low Risk Less than 1/10,000 (0.01%)
Fetal Sex Male
SCA Analysis
SINGLETON EGG DONOR & IVF
TWINS
Harmony Prenatal Test
Evaluates the risk of fetal trisomy 21, trisomy 18 and trisomy 13.
AVAILABLE FOR
The Harmony Prenatal Test is validated for use in singleton, twin, and IVF pregnancies, including self and non-self egg donor pregnancies. 4
For both Monosomy X and the Sex Chromosome Aneuploidy Panel, fetal sex will not be reported unless the Fetal Sex box is checked separately. However if the result indicates a high risk for sex chromosome aneuploidy, then this risk assessment will indirectly provide information regarding fetal sex. The Harmony Prenatal test is not available for more than 2 fetuses.
At 10 weeks or later,a blood sample istaken.
The blood sampleis sent to the Harmonylaboratory, where itis analyzed.
The results are sentto the requesting healthcare provider within 10 business days.32 1031
Three Steps to Clarity
1. Sparks et al. Prenat Diagn. 2012 Jan;32(1):3-9.2. Sparks et al. Am J Obstet Gynecol. 2012 Apr;206(4):319.e1-9.3. Juneau et al. Fetal Diagn Ther. 2014;36(4):282-6.4. Gil et al. Fetal Diagn Ther. 2014;35:204-11.