Generated Narrative: Patient prequel-patient-jane-miller Jane Miller Female, DoB: 1997-11-11 ( http://example.org/mrn#FAKERQIHPT13S)
Generated Narrative: Practitioner prequel-practitioner-paul-smith identifier: United States National Provider Identifier/4253506008 name: Paul Smith
Generated Narrative: Organization prequel-org-umc name: University Medical Center Contacts - Telecom Address * ph: (800) 555-1212, fax: (800) 555-1212 123 Main Street City CA 10231
Generated Narrative: Organization prequel-org-myriad identifier: <a href="http://terminology.hl7.org/7.1.0/NamingSystem-CLIA.html" title=""The Centers for Medicare & Medicaid Services (CMS) regulates all laboratory testing (except research) performed on humans in the U.S. through the Clinical Laboratory Improvement Amendments (CLIA). In total, CLIA covers approximately 330,000 laboratory entities. The Division of Clinical Laboratory Improvement & Quality, within the Quality, Safety & Oversight Group, under the Center for Clinical Standards and Quality (CCSQ) has the responsibility for implementing the CLIA Program.#xD;#xA;#xD;#xA;The objective of the CLIA program is to ensure quality laboratory testing. Although all clinical laboratories must be properly certified to receive Medicare or Medicaid payments, CLIA has no direct Medicare or Medicaid program responsibilities."#xD;#xA;#xD;#xA;CMS CLIA certified laboratories will be assigned a10-digit alphanumeric CLIA identification number, with the "D" in the third position identifying the provider/supplier as a laboratory certified under CLIA."#xD;#xA;#xD;#xA;CLIA is maintained by CMS. It is in the public domain and free to use without restriction.#xD;#xA;#xD;#xA;See http://cms.gov/regulations-and-guidance/legislation/clia.">Clinical Laboratory Improvement Amendments/05D1102604 name: Myriad Women's Health, Inc. Contacts - Telecom Address * ph: (888) 268-6795, http://www.myriadwomenshealth.com 180 Kimball Way South San Francisco CA 94080
Generated Narrative: ServiceRequest prequel-service-request status: Completed intent: Order Codes - Concept * Myriad Prequel Prenatal Screen with AMPLIFY technology — Chromosomes 13, 18, 21 aneuploidy screening (NIPS v4.0) subject: Jane Miller Female, DoB: 1997-11-11 ( http://example.org/mrn#FAKERQIHPT13S) authoredOn: 2024-06-06 requester: Practitioner Paul Smith performer: Organization Myriad Women's Health, Inc. specimen: Specimen: identifier = http://example.org/barcode#31200020477415; status = available; type = Blood venous; receivedTime = 2024-06-09 note: Singleton pregnancy; gestational age 8 weeks 0 days; ovum donor: N/A; patient height 5ft 6in; patient weight 120lbs; NT 1mm (ultrasound 2024-06-06); CRL 10cm; expected due date 2025-01-16
Myriad Prequel Prenatal Screen with AMPLIFY technology — Chromosomes 13, 18, 21 aneuploidy screening (NIPS v4.0)
Singleton pregnancy; gestational age 8 weeks 0 days; ovum donor: N/A; patient height 5ft 6in; patient weight 120lbs; NT 1mm (ultrasound 2024-06-06); CRL 10cm; expected due date 2025-01-16
Generated Narrative: Specimen prequel-specimen-cfdna identifier: http://example.org/barcode/31200020477415 status: Available type: Streck Cell-Free DNA Blood Tube (cell-free DNA) subject: Jane Miller Female, DoB: 1997-11-11 ( http://example.org/mrn#FAKERQIHPT13S) receivedTime: 2024-06-09 Collections - Collector Collected[x] * Practitioner Paul Smith 2024-06-06
Streck Cell-Free DNA Blood Tube (cell-free DNA)
Generated Narrative: Observation prequel-biomarker-fetal-fraction Profile: Molecular Biomarker status: Final category: Laboratory, Biomarker Category, Genetics code: Cell-free DNA.fetal/Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA subject: Jane Miller Female, DoB: 1997-11-11 ( http://example.org/mrn#FAKERQIHPT13S) effective: 2024-06-16 performer: Organization Myriad Women's Health, Inc. value: 25 % (Details: UCUM code% = '%') note: Fetal fraction is one component of the algorithm used and is combined with other quality metrics to determine the aneuploidy screening result. specimen: Specimen: identifier = http://example.org/barcode#31200020477415; status = available; type = Blood venous; receivedTime = 2024-06-09 Components - Code Value[x] * Biomarker Category Cell-free fetal DNA fraction
Cell-free DNA.fetal/Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA
Fetal fraction is one component of the algorithm used and is combined with other quality metrics to determine the aneuploidy screening result.
Generated Narrative: Observation prequel-variant-chr13-trisomy Profile: Variant status: Final category: Laboratory, Genetics code: Genetic variant assessment subject: Jane Miller Female, DoB: 1997-11-11 ( http://example.org/mrn#FAKERQIHPT13S) effective: 2024-06-16 performer: Organization Myriad Women's Health, Inc. value: Present method: Sequencing with fetal chromosome analysis (NIPS v4.0); Genome Reference Consortium Human Build 37 (GRCh37)/hg19 specimen: Specimen: identifier = http://example.org/barcode#31200020477415; status = available; type = Blood venous; receivedTime = 2024-06-09 component code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method value: Chromosome 13 component code: Human reference sequence assembly version value: GRCh37 component code: Genomic source class [Type] value: Fetal component code: Genomic structural variant copy number value: 3 1 (Details: UCUM code1 = '1') component code: DNA change type value: copy_number_gain component code: Conclusion Text value: Results suggestive of trisomy for chromosome 13. Positive predictive value (PPV): 34.07% (34.07 in 100). Test performance: Sensitivity 99.0% (95% CI: 65.8-100.0); Specificity 99.96% (95% CI: 99.93-99.98).
Sequencing with fetal chromosome analysis (NIPS v4.0); Genome Reference Consortium Human Build 37 (GRCh37)/hg19
Results suggestive of trisomy for chromosome 13. Positive predictive value (PPV): 34.07% (34.07 in 100). Test performance: Sensitivity 99.0% (95% CI: 65.8-100.0); Specificity 99.96% (95% CI: 99.93-99.98).
Generated Narrative: Observation prequel-variant-chr18-negative Profile: Variant status: Final category: Laboratory, Genetics code: Genetic variant assessment subject: Jane Miller Female, DoB: 1997-11-11 ( http://example.org/mrn#FAKERQIHPT13S) effective: 2024-06-16 performer: Organization Myriad Women's Health, Inc. value: Absent method: Sequencing with fetal chromosome analysis (NIPS v4.0); GRCh37/hg19 specimen: Specimen: identifier = http://example.org/barcode#31200020477415; status = available; type = Blood venous; receivedTime = 2024-06-09 component code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method value: Chromosome 18 component code: Human reference sequence assembly version value: GRCh37 component code: Genomic source class [Type] value: Fetal component code: Genomic structural variant copy number value: 2 1 (Details: UCUM code1 = '1') component code: Conclusion Text value: Results consistent with two copies of chromosome 18. Residual risk < 0.01% (1 in 10,000). Test performance: Sensitivity 97.9% (95% CI: 94.9-99.1); Specificity 99.96% (95% CI: 99.93-99.97).
Sequencing with fetal chromosome analysis (NIPS v4.0); GRCh37/hg19
Results consistent with two copies of chromosome 18. Residual risk < 0.01% (1 in 10,000). Test performance: Sensitivity 97.9% (95% CI: 94.9-99.1); Specificity 99.96% (95% CI: 99.93-99.97).
Generated Narrative: Observation prequel-variant-chr21-negative Profile: Variant status: Final category: Laboratory, Genetics code: Genetic variant assessment subject: Jane Miller Female, DoB: 1997-11-11 ( http://example.org/mrn#FAKERQIHPT13S) effective: 2024-06-16 performer: Organization Myriad Women's Health, Inc. value: Absent method: Sequencing with fetal chromosome analysis (NIPS v4.0); GRCh37/hg19 specimen: Specimen: identifier = http://example.org/barcode#31200020477415; status = available; type = Blood venous; receivedTime = 2024-06-09 component code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method value: Chromosome 21 component code: Human reference sequence assembly version value: GRCh37 component code: Genomic source class [Type] value: Fetal component code: Genomic structural variant copy number value: 2 1 (Details: UCUM code1 = '1') component code: Conclusion Text value: Results consistent with two copies of chromosome 21. Residual risk < 0.01% (1 in 10,000). Test performance: Sensitivity 99.7% (95% CI: 99.1-99.9); Specificity 99.96% (95% CI: 99.93-99.98).
Results consistent with two copies of chromosome 21. Residual risk < 0.01% (1 in 10,000). Test performance: Sensitivity 99.7% (95% CI: 99.1-99.9); Specificity 99.96% (95% CI: 99.93-99.98).
Generated Narrative: Observation prequel-dx-implication-patau Profile: Diagnostic Implication status: Final category: Laboratory, Genetics code: Diagnostic Implication subject: Jane Miller Female, DoB: 1997-11-11 ( http://example.org/mrn#FAKERQIHPT13S) effective: 2024-06-16 performer: Organization Myriad Women's Health, Inc. derivedFrom: Observation Genetic variant assessment component code: Genetic variation clinical significance [Imp] value: Pathogenic component code: Associated phenotype value: Trisomy 13 (Patau Syndrome) component code: Condition Inheritance value: Contiguous gene syndrome (chromosomal aneuploidy; typically sporadic) component code: Conclusion Text value: POSITIVE: Aneuploidy suspected (borderline value). Results suggestive of trisomy for chromosome 13. Positive predictive value (PPV): 34.07% (34.07 in 100). Trisomy 13 (Patau syndrome) is a life-limiting condition caused by an extra copy of chromosome 13. Common features include heart defects, brain and spine abnormalities, polydactyly, micropthalmia, hypotonia, kidney problems, and cleft lip/palate. Most infants die within the first few weeks of life. This is a screening test — false positives can occur. Definitive diagnosis requires CVS or amniocentesis.
Contiguous gene syndrome (chromosomal aneuploidy; typically sporadic)
POSITIVE: Aneuploidy suspected (borderline value). Results suggestive of trisomy for chromosome 13. Positive predictive value (PPV): 34.07% (34.07 in 100). Trisomy 13 (Patau syndrome) is a life-limiting condition caused by an extra copy of chromosome 13. Common features include heart defects, brain and spine abnormalities, polydactyly, micropthalmia, hypotonia, kidney problems, and cleft lip/palate. Most infants die within the first few weeks of life. This is a screening test — false positives can occur. Definitive diagnosis requires CVS or amniocentesis.
Generated Narrative: Observation prequel-dx-implication-edwards-negative Profile: Diagnostic Implication status: Final category: Laboratory, Genetics code: Diagnostic Implication subject: Jane Miller Female, DoB: 1997-11-11 ( http://example.org/mrn#FAKERQIHPT13S) effective: 2024-06-16 performer: Organization Myriad Women's Health, Inc. derivedFrom: Observation Genetic variant assessment component code: Genetic variation clinical significance [Imp] value: Likely benign component code: Associated phenotype value: Trisomy 18 (Edwards Syndrome) component code: Conclusion Text value: NEGATIVE: Results consistent with two copies of chromosome 18. Residual risk < 0.01% (1 in 10,000). Test performance: Sensitivity 97.9% (95% CI: 94.9-99.1); Specificity 99.96% (95% CI: 99.93-99.97).
NEGATIVE: Results consistent with two copies of chromosome 18. Residual risk < 0.01% (1 in 10,000). Test performance: Sensitivity 97.9% (95% CI: 94.9-99.1); Specificity 99.96% (95% CI: 99.93-99.97).
Generated Narrative: Observation prequel-dx-implication-down-negative Profile: Diagnostic Implication status: Final category: Laboratory, Genetics code: Diagnostic Implication subject: Jane Miller Female, DoB: 1997-11-11 ( http://example.org/mrn#FAKERQIHPT13S) effective: 2024-06-16 performer: Organization Myriad Women's Health, Inc. derivedFrom: Observation Genetic variant assessment component code: Genetic variation clinical significance [Imp] value: Likely benign component code: Associated phenotype value: Trisomy 21 (Down Syndrome) component code: Conclusion Text value: NEGATIVE: Results consistent with two copies of chromosome 21. Residual risk < 0.01% (1 in 10,000). Test performance: Sensitivity 99.7% (95% CI: 99.1-99.9); Specificity 99.96% (95% CI: 99.93-99.98).
NEGATIVE: Results consistent with two copies of chromosome 21. Residual risk < 0.01% (1 in 10,000). Test performance: Sensitivity 99.7% (95% CI: 99.1-99.9); Specificity 99.96% (95% CI: 99.93-99.98).
Generated Narrative: Task prequel-task-genetic-counseling Profile: Followup Recommendation status: Requested intent: proposal code: Genetic counseling recommended description: Genetic counseling is recommended in view of a positive NIPS result for Trisomy 13 (PPV 34.07%). No irreversible decision should be made based on this screening result alone. If definitive diagnosis is desired, chorionic villus sampling (CVS) or amniocentesis is necessary. Clinical correlation with ultrasound findings and history is indicated. for: Jane Miller Female, DoB: 1997-11-11 ( http://example.org/mrn#FAKERQIHPT13S) Reasons - Reference * Observation Diagnostic Implication
Genetic counseling is recommended in view of a positive NIPS result for Trisomy 13 (PPV 34.07%). No irreversible decision should be made based on this screening result alone. If definitive diagnosis is desired, chorionic villus sampling (CVS) or amniocentesis is necessary. Clinical correlation with ultrasound findings and history is indicated.
Generated Narrative: DiagnosticReport prequel-genomic-report Profile: Genomic Report Genetic analysis report (Genetics) Subject Jane Miller Female, DoB: 1997-11-11 ( http://example.org/mrn#FAKERQIHPT13S) When For 2024-06-17 Reported 2024-06-17 00:00:00+0000 Performer Organization Myriad Women's Health, Inc. Report Details Code Value Flags Note When For Cell-free DNA.fetal/Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA 25 % (Details: UCUM code% = '%') Final Fetal fraction is one component of the algorithm used and is combined with other quality metrics to determine the aneuploidy screening result. 2024-06-16 Genetic variant assessment Present Final 2024-06-16 Genetic variant assessment Absent Final 2024-06-16 Genetic variant assessment Absent Final 2024-06-16 Diagnostic Implication Final 2024-06-16 Diagnostic Implication Final 2024-06-16 Diagnostic Implication Final 2024-06-16 POSITIVE: PREGNANCY AT INCREASED RISK. Chromosome 13 aneuploidy detected — results suggestive of Trisomy 13 (Patau Syndrome). Positive predictive value (PPV): 34.07% (34.07 in 100). Chromosomes 18 (Edwards Syndrome) and 21 (Down Syndrome) are NEGATIVE with residual risk < 0.01% (1 in 10,000) each. Fetal fraction: 25.0%. Method: sequencing with fetal chromosome analysis (NIPS v4.0; GRCh37/hg19). This is a screening test — false positive and false negative results can occur. Genetic counseling is recommended. If definitive diagnosis is desired, chorionic villus sampling or amniocentesis is necessary. Coded Conclusions: POSITIVE: Pregnancy at Increased Risk for Trisomy 13 (Patau Syndrome)
POSITIVE: PREGNANCY AT INCREASED RISK. Chromosome 13 aneuploidy detected — results suggestive of Trisomy 13 (Patau Syndrome). Positive predictive value (PPV): 34.07% (34.07 in 100). Chromosomes 18 (Edwards Syndrome) and 21 (Down Syndrome) are NEGATIVE with residual risk < 0.01% (1 in 10,000) each. Fetal fraction: 25.0%. Method: sequencing with fetal chromosome analysis (NIPS v4.0; GRCh37/hg19). This is a screening test — false positive and false negative results can occur. Genetic counseling is recommended. If definitive diagnosis is desired, chorionic villus sampling or amniocentesis is necessary.
POSITIVE: Pregnancy at Increased Risk for Trisomy 13 (Patau Syndrome)
Myriad Prequel Prenatal Screen with AMPLIFY — Positive Sample Report (PDF)