77018-0
Noninvasive prenatal fetal 13 and 18 and 21 aneuploidy panel - Plasma cell-free DNA by Sequencing
Active
77011-5 Fetal Chromosome 21 trisomy [Presence] based on Plasma cell-free DNA by Sequencing
Term Description
This term was created for, but is not limited in use to, Sequenom Laboratories' MaterniT21 PLUS trisomy 21 test, which analyzes circulating cell-free DNA extracted from maternal plasma for chromosome 21 aneuploidy using whole genome sequencing. MaterniT21 PLUS is indicated for use in pregnant women with increased risk for fetal chromosomal aneuploidy.
Source: Regenstrief LOINC
Part Descriptions
LP150045-5 Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Fetal chromosome 21 trisomy
- Property
- PrThr
- Time
- Pt
- System
- Plas.cfDNA
- Scale
- Ord
- Method
- Sequencing
Additional Names
- Short Name
- Fet Chr 21 Ts Plas.cfDNA Ql
- Display Name
- Chr 21 trisomy Sequencing Ql (cfDNA)
- Consumer Name Alpha Get Info
- Fetal Chromosome 21 trisomy
Basic Attributes
- Class
- MOLPATH.TRISOMY
- Type
- Laboratory
- First Released
- Version 2.52
- Last Updated
- Version 2.73
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.; Added "Fetal" to Component to clarify that the result is about the fetus.
- Order vs. Observation
- Observation
Example Answer List LL3282-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Negative Copyright http://snomed.info/sct ID:260385009 Negative (qualifier value) | LA6577-6 | ||
| Positive Copyright http://snomed.info/sct ID:10828004 Positive (qualifier value) | LA6576-8 | ||
| Not reportable | LA22730-8 | ||
| Quantity insufficient Copyright http://snomed.info/sct ID:281268007 Insufficient sample (finding) | LA15842-0 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77018-0 | Noninvasive prenatal fetal 13 and 18 and 21 aneuploidy panel - Plasma cell-free DNA by Sequencing |
| 92901-8 | Noninvasive prenatal fetal aneuploidy and microdeletion panel - Plasma cell-free DNA by Sequencing |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Trisomía fetal del cromosoma 21: |
| es-ES | Spanish (Spain) | Trisomía fetal del cromosoma 21: |
| fr-FR | French (France) | Chromosome 21 trisomie foetale: |
| it-IT | Italian (Italy) | Cromosoma 21, trisomia: Synonyms: DNA libero circolante nel plasma Patologia molecolare Plasma Presenza o Soglia Punto nel tempo (episodio) Trisomia cromosoma genetica Trisomia del cromosoma 21 |
| pl-PL | Polish (Poland) | Trisomia chromosomu 21 u płodu: |
| zh-CN | Chinese (China) | 胎儿染色体 21 三体性: Synonyms: 21号染色体三体型; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
77012-3 Fetal Chromosome 18 trisomy [Presence] based on Plasma cell-free DNA by Sequencing
Term Description
This term was created for, but is not limited in use to, Sequenom Laboratories' MaterniT21 PLUS trisomy 18 test, which analyzes circulating cell-free DNA extracted from maternal plasma for chromosome 18 aneuploidy using whole genome sequencing. MaterniT21 PLUS is indicated for use in pregnant women with increased risk for fetal chromosomal aneuploidy.
Source: Regenstrief LOINC
Part Descriptions
LP150045-5 Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600
Source: Regenstrief LOINC
LP187146-8 Fetal chromosome 18 trisomy
Trisomy 18 risk refers to the fetus's risk of having trisomy 18. The risk can be estimated based on maternal age and prenatal genetic testing of fetal DNA.Trisomy 18, also called Edwards syndrome, is caused by the presence of three copies of chromosome 18 in each cell rather than two. Edwards syndrome is associated with intrauterine growth retardation and fetal demise, and liveborn infants with Edwards syndrome typically have low birth weight, congenital heart disease, and characteristic physical features. Less than 10% of liveborn infants with Edwards syndrome live past their first year. The general population risk of Edwards syndrome is 1 out of 5,000 live births, and the risk for Edwards syndrome increases with increasing maternal age. [MedlinePlus Condition: trisomy-18]
Source: Regenstrief LOINC, GHR: Trisomy 18
Fully-Specified Name
- Component
- Fetal chromosome 18 trisomy
- Property
- PrThr
- Time
- Pt
- System
- Plas.cfDNA
- Scale
- Ord
- Method
- Sequencing
Additional Names
- Short Name
- Fet Chr 18 Ts Plas.cfDNA Ql
- Display Name
- Chr 18 trisomy Sequencing Ql (cfDNA)
- Consumer Name Alpha Get Info
- Fetal Chromosome 18 trisomy
Basic Attributes
- Class
- MOLPATH.TRISOMY
- Type
- Laboratory
- First Released
- Version 2.52
- Last Updated
- Version 2.73
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.; Added "Fetal" to Component to clarify that the result is about the fetus.
- Order vs. Observation
- Observation
Example Answer List LL3282-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Negative Copyright http://snomed.info/sct ID:260385009 Negative (qualifier value) | LA6577-6 | ||
| Positive Copyright http://snomed.info/sct ID:10828004 Positive (qualifier value) | LA6576-8 | ||
| Not reportable | LA22730-8 | ||
| Quantity insufficient Copyright http://snomed.info/sct ID:281268007 Insufficient sample (finding) | LA15842-0 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77018-0 | Noninvasive prenatal fetal 13 and 18 and 21 aneuploidy panel - Plasma cell-free DNA by Sequencing |
| 92901-8 | Noninvasive prenatal fetal aneuploidy and microdeletion panel - Plasma cell-free DNA by Sequencing |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Trisomía cromosoma 18: |
| es-MX | Spanish (Mexico) | Trisomía fetal del cromosoma 18: |
| fr-FR | French (France) | Chromosome 18 trisomie foetale: |
| it-IT | Italian (Italy) | Cromosoma 18, trisomia: Synonyms: DNA libero circolante nel plasma Patologia molecolare Plasma Presenza o Soglia Punto nel tempo (episodio) Trisomia cromosoma genetica Trisomia del cromosoma 18 |
| nl-NL | Dutch (Netherlands) | foetale trisomie 18: Synonyms: chromosoom 18 trisomie bij foetus circulerend DNA |
| pl-PL | Polish (Poland) | Trisomia chromosomu 18 u płodu: |
| tr-TR | Turkish (Turkey) | Kromozom 18 trizomi: Synonyms: Dizi tayini Mevcut Plazma hücresiz DNA |
| zh-CN | Chinese (China) | 胎儿染色体 18 三体性: Synonyms: 三体型 三体细胞 三染色体性 三染色体细胞 依次型; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
77013-1 Fetal Chromosome 13 trisomy [Presence] based on Plasma cell-free DNA by Sequencing
Term Description
This term was created for, but is not limited in use to, Sequenom Laboratories' MaterniT21 PLUS trisomy 13 test, which analyzes circulating cell-free DNA extracted from maternal plasma for chromosome 13 aneuploidy using whole genome sequencing. MaterniT21 PLUS is indicated for use in pregnant women with increased risk for fetal chromosomal aneuploidy.
Source: Regenstrief LOINC
Part Descriptions
LP150045-5 Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600
Source: Regenstrief LOINC
LP187147-6 Fetal chromosome 13 trisomy
Trisomy 13 risk refers to the fetus's risk of having trisomy 13. The risk can be estimated based on maternal age as well as prenatal genetic testing of fetal DNA. Trisomy 13, also called Patau syndrome, is caused by the presence of three copies of chromosome 13 in each cell rather than two. Patau syndrome is associated with severe cognitive delay, various forms of congenital heart disease, brain or spinal cord abnormalities, hypotonia, cleft lip and/or palate, and poorly developed eyes. Many liveborn infants with Patau syndrome die within the first weeks of life, and less than 10% survive longer than one year. The general population risk of Trisomy 13 is about 1 in 16,000 live births, but the risk increases with increasing maternal age. [MedlinePlus Condition: trisomy-13]
Source: Regenstrief LOINC, GHR: Trisomy 13
Fully-Specified Name
- Component
- Fetal chromosome 13 trisomy
- Property
- PrThr
- Time
- Pt
- System
- Plas.cfDNA
- Scale
- Ord
- Method
- Sequencing
Additional Names
- Short Name
- Fet Chr 13 Ts Plas.cfDNA Ql
- Display Name
- Chr 13 trisomy Sequencing Ql (cfDNA)
- Consumer Name Alpha Get Info
- Fetal Chromosome 13 trisomy
Basic Attributes
- Class
- MOLPATH.TRISOMY
- Type
- Laboratory
- First Released
- Version 2.52
- Last Updated
- Version 2.73
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.; Added "Fetal" to Component to clarify that the result is about the fetus.
- Order vs. Observation
- Observation
Example Answer List LL3282-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Negative Copyright http://snomed.info/sct ID:260385009 Negative (qualifier value) | LA6577-6 | ||
| Positive Copyright http://snomed.info/sct ID:10828004 Positive (qualifier value) | LA6576-8 | ||
| Not reportable | LA22730-8 | ||
| Quantity insufficient Copyright http://snomed.info/sct ID:281268007 Insufficient sample (finding) | LA15842-0 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77018-0 | Noninvasive prenatal fetal 13 and 18 and 21 aneuploidy panel - Plasma cell-free DNA by Sequencing |
| 92901-8 | Noninvasive prenatal fetal aneuploidy and microdeletion panel - Plasma cell-free DNA by Sequencing |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Trisomía fetal del cromosoma 13: |
| es-ES | Spanish (Spain) | Trisomía cromosoma 13: |
| fr-FR | French (France) | Chromosome 13 trisomie foetale: |
| it-IT | Italian (Italy) | Cromosoma 13, trisomia: Synonyms: DNA libero circolante nel plasma Patologia molecolare Plasma Presenza o Soglia Punto nel tempo (episodio) Trisomia cromosoma genetica Trisomia del cromosoma 13 |
| nl-NL | Dutch (Netherlands) | foetale trisomie 13: Synonyms: chromosoom 13 trisomie bij foetus circulerend DNA |
| pl-PL | Polish (Poland) | Trisomia chromosomu 13 u płodu: |
| tr-TR | Turkish (Turkey) | Kromozom 13 trizomi: Synonyms: Dizi tayini Mevcut Plazma hücresiz DNA |
| zh-CN | Chinese (China) | 胎儿染色体 13 三体性: Synonyms: 三体型 三体细胞 三染色体性 三染色体细胞 依次型; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
77021-4 Fetal Y chromosome [Presence] based on Plasma cell-free DNA by Sequencing
Part Descriptions
LP150045-5 Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Fetal Y chromosome
- Property
- PrThr
- Time
- Pt
- System
- Plas.cfDNA
- Scale
- Ord
- Method
- Sequencing
Additional Names
- Short Name
- Fet Y Chrom Plas.cfDNA Ql
- Display Name
- Y chromosome Sequencing Ql (cfDNA)
- Consumer Name Alpha Get Info
- Fetal Y chromosome
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.52
- Last Updated
- Version 2.73
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.; Added "Fetal" to Component to clarify that the result is about the fetus.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 7336
Example Answer List LL744-4
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Detected | LA11882-0 | ||
| Not detected | LA11883-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77018-0 | Noninvasive prenatal fetal 13 and 18 and 21 aneuploidy panel - Plasma cell-free DNA by Sequencing |
| 92901-8 | Noninvasive prenatal fetal aneuploidy and microdeletion panel - Plasma cell-free DNA by Sequencing |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Cromosoma Y fetal: |
| es-ES | Spanish (Spain) | Cromosoma fetal Y: |
| fr-FR | French (France) | Chromosome foetal Y: |
| it-IT | Italian (Italy) | Cromosoma Y: Synonyms: Cromosoma Y DNA libero circolante nel plasma Patologia molecolare Plasma Presenza o Soglia Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | foetaal Y-chromosoom: Synonyms: circulerend DNA |
| pl-PL | Polish (Poland) | Chromosom Y płodu: Synonyms: Chromosom Y u płodu |
| zh-CN | Chinese (China) | 胎儿染色体 Y: Synonyms: 依次型; |
77020-6 Fetal Y chromosome [Interpretation] based on Plasma cell-free DNA by Sequencing
Part Descriptions
LP150045-5 Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Fetal Y chromosome
- Property
- Imp
- Time
- Pt
- System
- Plas.cfDNA
- Scale
- Nom
- Method
- Sequencing
Additional Names
- Short Name
- Fet Y Chrom Plas.cfDNA
- Display Name
- Y chromosome Sequencing (cfDNA) [Interp]
- Consumer Name Alpha Get Info
- Fetal Y chromosome
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.52
- Last Updated
- Version 2.73
- Change Reason
- Added "Fetal" to Component to clarify that the result is about the fetus.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 7240
Example Answer List LL3576-7
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Consistent with a male fetus | LA23714-1 | ||
| Consistent with a female fetus | LA23715-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77018-0 | Noninvasive prenatal fetal 13 and 18 and 21 aneuploidy panel - Plasma cell-free DNA by Sequencing |
| 92901-8 | Noninvasive prenatal fetal aneuploidy and microdeletion panel - Plasma cell-free DNA by Sequencing |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Cromosoma Y fetal: |
| es-ES | Spanish (Spain) | Cromosoma fetal Y: |
| fr-FR | French (France) | Chromosome foetal Y: |
| it-IT | Italian (Italy) | Cromosoma Y: Synonyms: Cromosoma Y DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | foetaal Y-chromosoom: Synonyms: circulerend DNA |
| zh-CN | Chinese (China) | 胎儿染色体 Y: Synonyms: 分子病理学; |