Version 2.78

73969-8 Fetal Trisomy 13 risk [Likelihood] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA

Term Description

The probability risk for trisomy 13 can be determined based on dosage of chromosome specific circulating cell free (ccf) DNA in maternal plasma, the mother's current age and gestational age. The ccf DNA includes both fetal and maternal DNA. This code is based, but not limited in use to, the submitter's test, Harmony Prenatal Test, which is a non-invasive prenatal test intended to aid in the risk determination of fetal sex chromosome aneuploidy as well as trisomy 13, 18 and 21 in women with singleton pregnancies of at least 10 weeks gestational age.
Source: Regenstrief LOINC

Part Descriptions

LP99499-3   Fetal trisomy 13 risk
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

Observation Required in Panel

Required

Fully-Specified Name

Component
Fetal trisomy 13 risk
Property
Likelihood
Time
Pt
System
Plas.cfDNA
Scale
Qn
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet Ts 13 risk Plas.cfDNA Qn
Display Name
Trisomy 13 risk Dosage of chromosome-specific cfDNA Qn (cfDNA)
Consumer Name Alpha Get Info
Fetal Trisomy 13 risk

Basic Attributes

Class
MOLPATH.TRISOMY
Type
Laboratory
First Released
Version 2.44
Last Updated
Version 2.73
Change Reason
The system of 'Ser/Plas.maternal^fetus' was changed to 'Plas.cfDNA' (cfDNA from plasma, which includes both maternal and fetal DNA) to more precisely identify what is being measured.; Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Both
Common Test Rank Get Info
9445

Member of these Panels

LOINC Long Common Name
73967-2 Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free DNA

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Riesgo de trisomía 13:Probabilidad:Punto temporal:ADN en plasma libre de células:Qn:Dosificación de ADN ccf de cromosoma específico
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Riesgo de trisomía 13 fetal:Probabilidad:Punto temporal:ADN libre de células plasmáticas:Cuantitativo:Dosis de cfDNA cromosómico específico
fr-FR French (France) Risque de trisomie 13 foetale:Probabilité:Ponctuel:Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Trisomia 13, rischio:Probabilità:Pt:Plasma.DNA libero circolante:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 13 Trisomia cromosoma genetica
pt-BR Portuguese (Brazil) Trissomia 13 risco:Achado:Pt:Soro/Plas maternal^feto:Qn:Dosagem de cromossomo específico ccf DNA
zh-CN Chinese (China) 胎儿三体型 13 风险:似然性:时间点:血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定
Synonyms: 三体型 三体细胞 三染色体性 三染色体细胞 分子病理学;分子病理学试验 分子病理学试验类.三体性（三体型） 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 可能性;似然;可能 时刻;随机;随意;瞬间 染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异 特异性的 特异的 胎儿 13 三体型综合征风险（危险性、风险性、危险）;13 三体型风险;13 三体性综合征风险;13 三体性风险;13 三体综合征风险;13 号染色体三体型风险;13 号染色体三体性风险;T13 风险;Ts 13 风险;三体性 13 风险;染色体 13 三体型风险;染色体 13 三体性风险;13-三体综合征风险;13 号染色体三体型综合征风险;Patau 综合征风险;帕套综合征风险 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

Example Units

Unit Source
{risk} Example UCUM Units

73824-5 Fetal Trisomy 13 risk [Interpretation] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Qualitative

Term Description

Trisomy 13 (T13) ordinal risk (high/low) can be determined based on dosage of chromosome specific circulating cell free (ccf) DNA in maternal plasma, the mother's current age and gestational age. The ccf DNA includes both fetal and maternal DNA. This code is based, but not limited in use to, the submitter's test, Harmony Prenatal Test, which is a non-invasive prenatal test intended to aid in the risk determination of fetal trisomy 13, 18 and 21 in women with singleton pregnancies of at least 10 weeks gestational age.
Source: Regenstrief LOINC

Part Descriptions

LP99499-3   Fetal trisomy 13 risk
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 trisomy 13 risk
Property
Imp
Time
Pt
System
Plas.cfDNA
Scale
Ord
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet Ts 13 risk Plas.cfDNA Ql
Display Name
Trisomy 13 risk Dosage of chromosome-specific cfDNA Ql (cfDNA) [Interp]
Consumer Name Alpha Get Info
Fetal Trisomy 13 risk

Basic Attributes

Class
MOLPATH.TRISOMY
Type
Laboratory
First Released
Version 2.44
Last Updated
Version 2.73
Change Reason
The system of 'Ser/Plas.maternal^fetus' was changed to 'Plas.cfDNA' (cfDNA from plasma, which includes both maternal and fetal DNA) to more precisely identify what is being measured.; Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Both
Common Test Rank Get Info
8224

Example Answer List LL2353-2

Answer Code Score Answer ID
Low risk LA19542-2
High risk LA19541-4

Member of these Panels

LOINC Long Common Name
73967-2 Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free DNA

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Riesgo de trisomía 13:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células:Ord:Dosificación de ADN ccf de cromosoma específico
es-MX Spanish (Mexico) Riesgo de trisomía 13 fetal:Impresión / interpretación del estudio:Punto temporal:ADN libre de células plasmáticas:Ordinal:Dosis de cfDNA cromosómico específico
fr-FR French (France) Risque de trisomie 13 foetale:Interprétation:Ponctuel:Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Trisomia 13, rischio:Imp:Pt:Plasma.DNA libero circolante:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 13 Trisomia cromosoma genetica
pt-BR Portuguese (Brazil) Trissomia 13 risco:Achado:Pt:Soro/Plas maternal^feto:Ord:Dosagem de cromossomo específico ccf DNA
uk-UA Ukrainian (Ukraine) Трисомія плода 13 ризик:Інтерпретація:МоментЧасу:Плазма.безклітиннаДНК:Порядково:Дозування хромосом-специфічної безклітинної ДНК
Synonyms: Chromosom; Chromosomes; Genetics; Heredity; Heritable; Impression; Impression/interpretation of study; Impressions; Inherited; Interp; Interpretation; Molecular pathology; MOLPATH; MOLPATH.TRISOMY; Ordinal; Patau syndrome; Pl; Plasma; Plsm; Point in time; QL; Qual; Qualitative; Random; Screen; Spec; Ts; Ts 13 risk
zh-CN Chinese (China) 胎儿三体型 13 风险:印象:时间点:血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定
Synonyms: 三体型 三体细胞 三染色体性 三染色体细胞 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学;分子病理学试验 分子病理学试验类.三体性（三体型） 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异 特异性的 特异的 胎儿 13 三体型综合征风险（危险性、风险性、危险）;13 三体型风险;13 三体性综合征风险;13 三体性风险;13 三体综合征风险;13 号染色体三体型风险;13 号染色体三体性风险;T13 风险;Ts 13 风险;三体性 13 风险;染色体 13 三体型风险;染色体 13 三体性风险;13-三体综合征风险;13 号染色体三体型综合征风险;Patau 综合征风险;帕套综合征风险 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

73968-0 Fetal Trisomy 18 risk [Likelihood] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA

Term Description

The probability risk for trisomy 18 can be determined based on dosage of chromosome specific circulating cell free (ccf) DNA in maternal plasma, the mother's current age and gestational age. The ccf DNA includes both fetal and maternal DNA. This code is based, but not limited in use to, the submitter's test, Harmony Prenatal Test, which is a non-invasive prenatal test intended to aid in the risk determination of fetal sex chromosome aneuploidy as well as trisomy 13, 18 and 21 in women with singleton pregnancies of at least 10 weeks gestational age.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component
Fetal trisomy 18 risk
Property
Likelihood
Time
Pt
System
Plas.cfDNA
Scale
Qn
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet Ts 18 risk Plas.cfDNA Qn
Display Name
Trisomy 18 risk Dosage of chromosome-specific cfDNA Qn (cfDNA)
Consumer Name Alpha Get Info
Fetal Trisomy 18 risk

Basic Attributes

Class
MOLPATH.TRISOMY
Type
Laboratory
First Released
Version 2.44
Last Updated
Version 2.73
Change Reason
The system of 'Ser/Plas.maternal^fetus' was changed to 'Plas.cfDNA' (cfDNA from plasma, which includes both maternal and fetal DNA) to more precisely identify what is being measured.; Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Both
Common Test Rank Get Info
9444

Member of these Panels

LOINC Long Common Name
73967-2 Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free DNA

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Riesgo de trisomía 18 fetal:Probabilidad:Punto temporal:ADN en plasma libre de células:Qn:Dosificación de ADN ccf de cromosoma específico
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Riesgo de trisomía 18 fetal:Probabilidad:Punto temporal:ADN libre de células plasmáticas:Cuantitativo:Dosis de cfDNA cromosómico específico
fr-FR French (France) Risque de trisomie 18 foetale:Probabilité:Ponctuel:Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Trisomia 18, rischio:Probabilità:Pt:Plasma.DNA libero circolante:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 18 Trisomia cromosoma genetica
pt-BR Portuguese (Brazil) Trissomia 18 risco:Achado:Pt:Soro/Plas maternal^feto:Qn:Dosagem de cromossomo específico ccf DNA
zh-CN Chinese (China) 胎儿三体型 18 风险:似然性:时间点:血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定
Synonyms: 18 三体型综合征风险（危险性、风险性、危险）;18 三体型风险;18 三体性综合征风险;18 三体性风险;18 三体综合征风险;18 号染色体三体型风险;18 号染色体三体性风险;T18 风险;Ts 18 风险;三体性 18 风险;染色体 18 三体型风险;染色体 18 三体性风险;爱德华兹综合征风险;Edwards 综合征风险;Edward 综合征风险 三体型 三体细胞 三染色体性 三染色体细胞 分子病理学;分子病理学试验 分子病理学试验类.三体性（三体型） 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 可能性;似然;可能 时刻;随机;随意;瞬间 染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异 特异性的 特异的 胎儿 18 三体型综合征风险（危险性、风险性、危险）;胎儿 18 三体型风险;胎儿 18 三体性综合征风险;胎儿 18 三体性风险;胎儿 18 三体综合征风险;胎儿 18 号染色体三体型风险;胎儿 18 号染色体三体性风险;胎儿 T18 风险;胎儿 Ts 18 风险;胎儿三体性 18 风险;胎儿染色体 18 三体型风险;胎儿染色体 18 三体性风险;胎儿爱德华兹综合征风险;胎儿Edwards 综合征风险;胎儿 Edward 综合征风险 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

Example Units

Unit Source
{risk} Example UCUM Units

73825-2 Fetal Trisomy 18 risk [Interpretation] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Qualitative

Term Description

Trisomy 18 (T18) ordinal risk (high/low) can be determined based on dosage of chromosome specific circulating cell free (ccf) DNA in maternal plasma, the mother's current age and gestational age. The ccf DNA includes both fetal and maternal DNA. This code is based, but not limited in use to, the submitter's test, Harmony Prenatal Test, which is a non-invasive prenatal test intended to aid in the risk determination of fetal trisomy 13, 18 and 21 in women with singleton pregnancies of at least 10 weeks gestational age.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Fetal trisomy 18 risk
Property
Imp
Time
Pt
System
Plas.cfDNA
Scale
Ord
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet Ts 18 risk Plas.cfDNA Ql
Display Name
Trisomy 18 risk Dosage of chromosome-specific cfDNA Ql (cfDNA) [Interp]
Consumer Name Alpha Get Info
Fetal Trisomy 18 risk

Basic Attributes

Class
MOLPATH.TRISOMY
Type
Laboratory
First Released
Version 2.44
Last Updated
Version 2.73
Change Reason
The system of 'Ser/Plas.maternal^fetus' was changed to 'Plas.cfDNA' (cfDNA from plasma, which includes both maternal and fetal DNA) to more precisely identify what is being measured.; Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Both
Common Test Rank Get Info
8225

Example Answer List LL2353-2

Answer Code Score Answer ID
Low risk LA19542-2
High risk LA19541-4

Member of these Panels

LOINC Long Common Name
73967-2 Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free DNA

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Riesgo de trisomía 18 fetal:Impresión / interpretación del estudio:Punto temporal:ADN libre de células plasmáticas:Ordinal:Dosis de cfDNA cromosómico específico
es-ES Spanish (Spain) Riesgo de trisomía 18 fetal:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células:Ord:Dosificación de ADN ccf de cromosoma específico
fr-FR French (France) Risque de trisomie 18 foetale:Interprétation:Ponctuel:Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Trisomia 18, rischio:Imp:Pt:Plasma.DNA libero circolante:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 18 Trisomia cromosoma genetica
pt-BR Portuguese (Brazil) Trissomia 18 risco:Achado:Pt:Soro/Plas maternal^feto:Ord:Dosagem de cromossomo específico ccf DNA
uk-UA Ukrainian (Ukraine) Трисомія плода 18 ризик:Інтерпретація:МоментЧасу:Плазма.безклітиннаДНК:Порядково:Дозування хромосом-специфічної безклітинної ДНК
Synonyms: Chromosom; Chromosomes; Edward syndrome; Genetics; Heredity; Heritable; Impression; Impression/interpretation of study; Impressions; Inherited; Interp; Interpretation; Molecular pathology; MOLPATH; MOLPATH.TRISOMY; Ordinal; Pl; Plasma; Plsm; Point in time; QL; Qual; Qualitative; Random; Screen; Spec; T18 risk; Ts; Ts 18 risk
zh-CN Chinese (China) 胎儿三体型 18 风险:印象:时间点:血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定
Synonyms: 18 三体型综合征风险（危险性、风险性、危险）;18 三体型风险;18 三体性综合征风险;18 三体性风险;18 三体综合征风险;18 号染色体三体型风险;18 号染色体三体性风险;T18 风险;Ts 18 风险;三体性 18 风险;染色体 18 三体型风险;染色体 18 三体性风险;爱德华兹综合征风险;Edwards 综合征风险;Edward 综合征风险 三体型 三体细胞 三染色体性 三染色体细胞 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学;分子病理学试验 分子病理学试验类.三体性（三体型） 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异 特异性的 特异的 胎儿 18 三体型综合征风险（危险性、风险性、危险）;胎儿 18 三体型风险;胎儿 18 三体性综合征风险;胎儿 18 三体性风险;胎儿 18 三体综合征风险;胎儿 18 号染色体三体型风险;胎儿 18 号染色体三体性风险;胎儿 T18 风险;胎儿 Ts 18 风险;胎儿三体性 18 风险;胎儿染色体 18 三体型风险;胎儿染色体 18 三体性风险;胎儿爱德华兹综合征风险;胎儿Edwards 综合征风险;胎儿 Edward 综合征风险 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

73970-6 Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA

Term Description

The probability risk for trisomy 21 can be determined based on dosage of chromosome specific circulating cell free (ccf) DNA in maternal plasma, the mother's current age and gestational age. The ccf DNA includes both fetal and maternal DNA. This code is based, but not limited in use to, the submitter's test, Harmony Prenatal Test, which is a non-invasive prenatal test intended to aid in the risk determination of fetal sex chromosome aneuploidy as well as trisomy 13, 18 and 21 in women with singleton pregnancies of at least 10 weeks gestational age.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component
Fetal trisomy 21 risk
Property
Likelihood
Time
Pt
System
Plas.cfDNA
Scale
Qn
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet Ts 21 risk Plas.cfDNA Qn
Display Name
Trisomy 21 risk Dosage of chromosome-specific cfDNA Qn (cfDNA)
Consumer Name Alpha Get Info
Fetal Trisomy 21 risk

Basic Attributes

Class
MOLPATH.TRISOMY
Type
Laboratory
First Released
Version 2.44
Last Updated
Version 2.73
Change Reason
The system of 'Ser/Plas.maternal^fetus' was changed to 'Plas.cfDNA' (cfDNA from plasma, which includes both maternal and fetal DNA) to more precisely identify what is being measured.; Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Both
Common Test Rank Get Info
9446

Member of these Panels

LOINC Long Common Name
73967-2 Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free DNA

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Riesgo de trisomía 21 fetal:Probabilidad:Punto temporal:ADN en plasma libre de células:Qn:Dosificación de ADN ccf de cromosoma específico
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Riesgo de trisomía 21 fetal:Probabilidad:Punto temporal:ADN libre de células plasmáticas:Cuantitativo:Dosis de cfDNA cromosómico específico
fr-FR French (France) Risque de trisomie 21 foetale:Probabilité:Ponctuel:Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Trisomia 21, rischio:Probabilità:Pt:Plasma.DNA libero circolante:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 21 Trisomia cromosoma genetica
pt-BR Portuguese (Brazil) Trissomia 21 risco:Achado:Pt:Soro/Plas maternal^feto:Qn:Dosagem de cromossomo específico ccf DNA
zh-CN Chinese (China) 胎儿三体型 21 风险:似然性:时间点:血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定
Synonyms: 21 三体型综合征（唐氏综合征、Down 氏综合征、Down 综合征、21 三体性、21 号染色体三体型、21 号染色体三体性） 21 三体型综合征风险（危险性、风险性、危险）;21 三体型风险;21 三体性综合征风险;21 三体性风险;21 三体综合征风险;21 三体综合症风险;21 号染色体三体型风险;21 号染色体三体性风险;Down 氏综合征风险;Down 综合征风险;DS;T21 风险;Ts 21 风险;三体性 21 风险;唐氏综合征风险;染色体 21 三体型风险;染色体 21 三体性风险 三体型 三体细胞 三染色体性 三染色体细胞 分子病理学;分子病理学试验 分子病理学试验类.三体性（三体型） 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 可能性;似然;可能 时刻;随机;随意;瞬间 染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异 特异性的 特异的 胎儿 21 三体型综合征风险（危险性、风险性、危险）;胎儿 21 三体型风险;胎儿 21 三体性综合征风险;胎儿 21 三体性风险;胎儿 21 三体综合征风险;胎儿 21 三体综合症风险;胎儿 21 号染色体三体型风险;胎儿 21 号染色体三体性风险;胎儿 Down 氏综合征风险;胎儿 Down 综合征风险;胎儿 DS;胎儿 T21 风险;胎儿 Ts 21 风险;胎儿 三体性 21 风险;胎儿 唐氏综合征风险;胎儿染色体 21 三体型风险;胎儿染色体 21 三体性风险 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

Example Units

Unit Source
{risk} Example UCUM Units

73966-4 Fetal Trisomy 21 risk [Interpretation] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Qualitative

Term Description

Trisomy 21 (T21) ordinal risk (high/low) can be determined based on dosage of chromosome specific circulating cell free (ccf) DNA in maternal plasma, the mother's current age and gestational age. The ccf DNA includes both fetal and maternal DNA. This code is based, but not limited in use to, the submitter's test, Harmony Prenatal Test, which is a non-invasive prenatal test intended to aid in the risk determination of fetal trisomy 13, 18 and 21 in women with singleton pregnancies of at least 10 weeks gestational age.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Fetal trisomy 21 risk
Property
Imp
Time
Pt
System
Plas.cfDNA
Scale
Ord
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet Ts 21 risk Plas.cfDNA Ql
Display Name
Trisomy 21 risk Dosage of chromosome-specific cfDNA Ql (cfDNA) [Interp]
Consumer Name Alpha Get Info
Fetal Trisomy 21 risk

Basic Attributes

Class
MOLPATH.TRISOMY
Type
Laboratory
First Released
Version 2.44
Last Updated
Version 2.73
Change Reason
The system of 'Ser/Plas.maternal^fetus' was changed to 'Plas.cfDNA' (cfDNA from plasma, which includes both maternal and fetal DNA) to more precisely identify what is being measured.; Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Both
Common Test Rank Get Info
8913

Member of these Panels

LOINC Long Common Name
73967-2 Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free DNA

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Riesgo de trisomía 21 fetal:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células:Ord:Dosificación de ADN ccf de cromosoma específico
es-MX Spanish (Mexico) Riesgo de trisomía 21 fetal:Impresión / interpretación del estudio:Punto temporal:ADN libre de células plasmáticas:Ordinal:Dosis de cfDNA cromosómico específico
fr-FR French (France) Risque de trisomie 21 foetale:Interprétation:Ponctuel:Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Trisomia 21, rischio:Imp:Pt:Plasma.DNA libero circolante:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 21 Trisomia cromosoma genetica
pt-BR Portuguese (Brazil) Trissomia 21 risco:Achado:Pt:Soro/Plas maternal^feto:Ord:Dosagem de cromossomo específico ccf DNA
uk-UA Ukrainian (Ukraine) Трисомія плода 21 Ризик:Інтерпретація:МоментЧасу:Плазма.безклітиннаДНК:Порядково:Дозування хромосом-специфічної безклітинної ДНК
Synonyms: Chromosom; Chromosomes; Down syndrome; Downs; Down's syndrome; ds; Genetics; Heredity; Heritable; Impression; Impression/interpretation of study; Impressions; Inherited; Interp; Interpretation; Molecular pathology; MOLPATH; MOLPATH.TRISOMY; Ordinal; Pl; Plasma; Plsm; Point in time; QL; Qual; Qualitative; Random; Screen; Spec; Ts; Ts 21 risk
zh-CN Chinese (China) 胎儿三体型 21 风险:印象:时间点:血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定
Synonyms: 21 三体型综合征（唐氏综合征、Down 氏综合征、Down 综合征、21 三体性、21 号染色体三体型、21 号染色体三体性） 21 三体型综合征风险（危险性、风险性、危险）;21 三体型风险;21 三体性综合征风险;21 三体性风险;21 三体综合征风险;21 三体综合症风险;21 号染色体三体型风险;21 号染色体三体性风险;Down 氏综合征风险;Down 综合征风险;DS;T21 风险;Ts 21 风险;三体性 21 风险;唐氏综合征风险;染色体 21 三体型风险;染色体 21 三体性风险 三体型 三体细胞 三染色体性 三染色体细胞 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学;分子病理学试验 分子病理学试验类.三体性（三体型） 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异 特异性的 特异的 胎儿 21 三体型综合征风险（危险性、风险性、危险）;胎儿 21 三体型风险;胎儿 21 三体性综合征风险;胎儿 21 三体性风险;胎儿 21 三体综合征风险;胎儿 21 三体综合症风险;胎儿 21 号染色体三体型风险;胎儿 21 号染色体三体性风险;胎儿 Down 氏综合征风险;胎儿 Down 综合征风险;胎儿 DS;胎儿 T21 风险;胎儿 Ts 21 风险;胎儿 三体性 21 风险;胎儿 唐氏综合征风险;胎儿染色体 21 三体型风险;胎儿染色体 21 三体性风险 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

88572-3 Fetal 22q11.2 deletion risk [Interpretation] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Qualitative

Term Description

The ordinal risk interpretation (e.g. high risk/low risk or high probability/low probability) of the fetus having a 22q11.2 deletion based on dosage of chromosome specific cell-free DNA (cf DNA) in maternal plasma that contains both fetal and maternal DNA. Results may also be based on the mother's current age, IVF status (self, non-self, or not applicable), and gestational age. This code is based, but not limited in use to, the submitter's test, the Harmony Prenatal Test, a non-invasive prenatal test for screening of fetal aneuploidy as well as the 22q11.2 deletion.
Source: Regenstrief LOINC

Part Descriptions

LP185776-4   Fetal 22q11.2 deletion risk
22q11.2 deletion syndrome, also known by many other names including DiGeorge syndrome, CATCH22, and velocardiofacial syndrome, is caused by the deletion of a small piece of chromosome 22. 22q11.2 deletion syndrome is associated with variable characteristics including congenital heart disease, recurrent infection due to immune dysfunction, cleft palate and other distinct facial features, cognitive delay and autoimmune disease. The general population risk of 22q11.2 deletion is about 1 in 4,000 live births, and does not change with maternal age. Fetal risk of having 22q11.2 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [MedlinePlus Condition: 22q112-deletion-syndrome] Source: Regenstrief LOINC, GHR: 22q11.2 deletion syndrome

Fully-Specified Name

Component
Fetal 22q11.2 deletion risk
Property
Imp
Time
Pt
System
Plas.cfDNA
Scale
Ord
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet 22q11.2 del risk Plas.cfDNA Ql
Display Name
22q11.2 del risk Dosage of chromosome-specific cfDNA Ql (cfDNA) [Interp]
Consumer Name Alpha Get Info
Fetal 22q11.2 deletion risk

Basic Attributes

Class
MOLPATH.DELDUP
Type
Laboratory
First Released
Version 2.64
Last Updated
Version 2.66
Change Reason
Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Observation

Example Answer List LL4771-3

Answer Code Score Answer ID
High probability LA28478-8
Low probability LA28479-6

Member of these Panels

LOINC Long Common Name
73967-2 Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free DNA

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Riesgo de deleción 22q11.2:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células:Ord:Dosificación de ADN ccf de cromosoma específico
es-MX Spanish (Mexico) Riesgo de deleción fetal 22q11.2:Impresión / interpretación del estudio:Punto temporal:ADN libre de células plasmáticas:Ordinal:Dosis de cfDNA cromosómico específico
fr-FR French (France) Risque délétion 22q11.2 foetale:Interprétation:Ponctuel:Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Delezione 22q11.2 rischio:Imp:Pt:Plasma.DNA libero circolante:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: Delezione o duplicazione genica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio)
zh-CN Chinese (China) 胎儿 22q11.2 染色体缺失风险:印象:时间点:血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定
Synonyms: 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学;分子病理学试验 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异 特异性的 特异的 胎儿 22q11.2 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）综合征风险（危险性、风险性、危险）;染色体 22q11.2 缺失症候群风险;迪乔治综合征风险;DiGeorge 综合征风险;迪乔治综合症风险;狄乔治氏症候群风险;迪格奥尔格综合征风险;DiGeorge syndrome;DGS;迪乔治畸形;DiGeorge anomaly;颚心脸综合征;腭心面综合征;心瓣面综合征;圆锥动脉干异常面容综合征;异常面综合征;斯特朗综合征;先天性胸腺发育不全;先天性胸腺发育不良;胸腺发育不全; 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

88571-5 Fetal Monosomy X risk [Interpretation] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Qualitative

Term Description

The ordinal risk interpretation (e.g. high risk/low risk or high probability/low probability) of the fetus having monosomy X aneuploidy based on dosage of chromosome specific cell-free DNA (cf DNA) in maternal plasma that contains both fetal and maternal DNA. Results may also be based on the mother's current age, IVF status (self, non-self, or not applicable), and gestational age. This code is based, but not limited in use to, the submitter's test, the Harmony Prenatal Test, a non-invasive prenatal test for screening of fetal aneuploidy.
Source: Regenstrief LOINC

Part Descriptions

LP185775-6   Fetal monosomy X risk
Monosomy X risk refers to the fetus's risk of having monosomy X, also known as Turner syndrome. The risk can be estimated based on gestational age as well as prenatal genetic testing of fetal DNA.Monosomy X is caused by the presence of a single normal copy of chromosome X in each cell rather than 2 normal copies of X or one X and one Y chromosome. In many cases, critical portions of the second X chromosome may be missing rather than the entire chromosome. Turner syndrome is associated with ovarian dysfunction, short stature and other characteristic physical features, and up to half of girls with Turner syndrome have congenital heart disease. Turner syndrome is not associated with cognitive delay. The general population risk of monosomy X is about 1 in 2,500 live female births, and does not change with maternal age. [MedlinePlus Condition: turner-syndrome] Source: Regenstrief LOINC, GHR: Turner syndrome

Fully-Specified Name

Component
Fetal monosomy X risk
Property
Imp
Time
Pt
System
Plas.cfDNA
Scale
Ord
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet Ms X risk Plas.cfDNA Ql
Display Name
Monosomy X risk Dosage of chromosome-specific cfDNA Ql (cfDNA) [Interp]
Consumer Name Alpha Get Info
Fetal Monosomy X Risk

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.64
Last Updated
Version 2.66
Change Reason
Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Observation

Example Answer List LL4771-3

Answer Code Score Answer ID
High probability LA28478-8
Low probability LA28479-6

Member of these Panels

LOINC Long Common Name
73967-2 Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free DNA

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Riesgo de monosomía X:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células:Ord:Dosificación de ADN ccf de cromosoma específico
es-MX Spanish (Mexico) Riesgo de monosomía X fetal:Impresión / interpretación del estudio:Punto temporal:ADN libre de células plasmáticas:Ordinal:Dosis de cfDNA cromosómico específico
fr-FR French (France) Risque de monosomie X foetale:Interprétation:Ponctuel:Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Monosomia X, rischio:Imp:Pt:Plasma.DNA libero circolante:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di monosomia X
zh-CN Chinese (China) 胎儿单体型 X 风险:印象:时间点:血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定
Synonyms: 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学;分子病理学试验 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异 特异性的 特异的 胎儿 X 单染色体症风险（危险性、风险性、危险）;特纳综合征风险;Turner 综合征风险;杜纳综合征风险;透纳氏症风险;透纳氏症候群风险;乌尔里希-特纳综合征风险;Ullrich-Turner 综合征风险;性腺发育不全风险;生殖腺发育不全风险;性腺发育障碍风险;性腺发育不良风险;性腺生殖力不全风险;性腺发育障碍症风险;Turner syndrome risk;Ullrich-Turner syndrome risk;Gonadal dysgenesis risk 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

73821-1 Fetal Chromosome X and Y aneuploidy risk [Likelihood] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA

Term Description

The probability risk for sex chromosome (X & Y) aneuploidy can be determined based on dosage of chromosome specific circulating cell free (ccf) DNA in maternal plasma, the mother's current age and gestational age. The ccf DNA includes both fetal and maternal DNA. This code is based, but not limited in use to, the submitter's test, Harmony Prenatal Test, which is a non-invasive prenatal test intended to aid in the risk determination of fetal aneuploidy as well as trisomy 13, 18 and 21 in women with singleton pregnancies of at least 10 weeks gestational age.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Fetal chromosome X & Y aneuploidy risk
Property
Likelihood
Time
Pt
System
Plas.cfDNA
Scale
Qn
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet Chr X + Y aneup risk Plas.cfDNA Qn
Display Name
Chr X and Y aneuploidy risk Dosage of chromosome-specific cfDNA Qn (cfDNA)
Consumer Name Alpha Get Info
Fetal Chromosome X and Y Aneuploidy Risk

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.44
Last Updated
Version 2.73
Change Reason
The system of 'Ser/Plas.maternal^fetus' was changed to 'Plas.cfDNA' (cfDNA from plasma, which includes both maternal and fetal DNA) to more precisely identify what is being measured.; Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Both
Common Test Rank Get Info
8586

Member of these Panels

LOINC Long Common Name
73967-2 Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free DNA

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Riesgo de aneuploidía fetal de los cromosomas X e Y:Probabilidad:Punto temporal:ADN libre de células plasmáticas:Cuantitativo:Dosis de cfDNA cromosómico específico
es-ES Spanish (Spain) Riesgo de aneuploidía X e Y:Probabilidad:Punto temporal:ADN en plasma libre de células:Qn:Dosificación de ADN ccf de cromosoma específico
Synonyms: Cuantitativo
fr-FR French (France) Risque d'aneuploïdie foetale chromosome X et Y:Probabilité:Ponctuel:Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Cromosomi X & Y, aneuploidia, rischio:Probabilità:Pt:Plasma.DNA libero circolante:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: Aneuploidia dei cromosomi X e Y DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di aneuploidia dei cromosomi X e Y
pl-PL Polish (Poland) Ryzyko aneuploidii chromosomów X & Y u płodu:prawdopodobieństwo:punkt w czasie:pozakomórkowy DNA w osoczu:ilościowy:dawkowanie swoistego dla chromosomu pozakomórkowego DNA
Synonyms: Aneuploidia chromosomów X i Y Aneuploidia chromosomów X i Y płodu Ryzyko aneuploidii chromosomów X i Y u płodu
pt-BR Portuguese (Brazil) X & Y aneuploide risco:Achado:Pt:Soro/Plas maternal^feto:Qn:Dosagem de cromossomo específico ccf DNA
zh-CN Chinese (China) 胎儿染色体 X 与 Y 非整倍体性风险:似然性:时间点:血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定
Synonyms: 分子病理学;分子病理学试验 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 可能性;似然;可能 时刻;随机;随意;瞬间 染色体 X 与 Y 非整倍体性（非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性）;X 与 Y 染色体非整倍体性 染色体二体型+染色体三体型 染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异 特异性的 特异的 胎儿染色体 X & Y 非整倍体性（非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性） 胎儿染色体 X 与 Y 非整倍体性（非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性）风险（危险、风险率、风险性、危险率、危险性）;X 与 Y 染色体非整倍体性 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

Example Units

Unit Source
{risk} Example UCUM Units

73822-9 Chromosome X and Y aneuploidy in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Nominal

Term Description

Sex chromosome (X & Y) analysis to determine gender (XY or XX) or presence of aneuploidy can be determined based on dosage of chromosome specific ccf DNA in maternal plasma, the mother's current age and gestational age. The ccf DNA includes both fetal and maternal DNA. This code is based, but not limited in use to, the submitter's test, Harmony Prenatal Test, which is a non-invasive prenatal test intended to aid in the risk determination of fetal aneuploidy as well as trisomy 13, 18 and 21 in women with singleton pregnancies of at least 10 weeks gestational age. The submitter's lab reports results as male fetus, female fetus, or aneuploidy. For aneuploidy cases, the results of the specific findings (e.g. YY, XYY, XXX, etc.) are reported as well.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Fetal chromosome X & Y aneuploidy
Property
Find
Time
Pt
System
Plas.cfDNA
Scale
Nom
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Chr X + Y aneup Plas.cfDNA
Display Name
Chr X and Y aneuploidy Dosage of chromosome-specific cfDNA Nom (cfDNA)
Consumer Name Alpha Get Info
Fetal Chromosome X and Y Aneuploidy

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.44
Last Updated
Version 2.73
Change Reason
The system of 'Ser/Plas.maternal^fetus' was changed to 'Plas.cfDNA' (cfDNA from plasma, which includes both maternal and fetal DNA) to more precisely identify what is being measured. Changed Component from 'X & Y chromosome analysis' to clarify that the purpose of the measurement is to look for aneuploidy.; Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Both
Common Test Rank Get Info
7043

Example Answer List LL2479-5

Answer Code Score Answer ID
Male fetus (XY) LA19938-2
Female fetus (XX) LA19939-0
Aneuploidy LA19940-8

Member of these Panels

LOINC Long Common Name
73967-2 Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free DNA

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Aneuploidía fetal de los cromosomas X e Y:Hallazgo:Punto temporal:ADN libre de células plasmáticas:Nominal:Dosis de cfDNA cromosómico específico
es-ES Spanish (Spain) Aneuploidía de los cromosmas fetales X e Y:Hallazgo:Punto temporal:ADN en plasma libre de células:Nom:Dosificación de ADN ccf de cromosoma específico
fr-FR French (France) Chromosomes X et Y aneuploïdie foetale:Recherche:Ponctuel:Plasma avec ADN libre circulant:Résultat nominal:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Cromosomi X & Y, aneuploidia:Osservazione:Pt:Plasma.DNA libero circolante:Nom:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: Aneuploidia dei cromosomi X e Y DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Osservazione Patologia molecolare Plasma Punto nel tempo (episodio)
pl-PL Polish (Poland) Aneuploidia chromosomów X & Y u płodu:wynik:punkt w czasie:pozakomórkowy DNA w osoczu:cecha:dawkowanie swoistego dla chromosomu pozakomórkowego DNA
Synonyms: Aneuploidia chromosomów X i Y Aneuploidia chromosomów X i Y płodu
pt-BR Portuguese (Brazil) Cromossomos X& Y análise:Achado:Pt:Soro/Plas maternal^feto:Nom:Dosagem de cromossomo específico ccf DNA
zh-CN Chinese (China) 胎儿染色体 X & Y 非整倍体性:发现:时间点:血浆.cfDNA:名义型:染色体特异性 cfDNA 剂量测定
Synonyms: 分子病理学;分子病理学试验 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 染色体 X 与 Y 非整倍体性（非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性）;X 与 Y 染色体非整倍体性 染色体二体型+染色体三体型 染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异 特异性的 特异的 胎儿染色体 X & Y 非整倍体性（非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性） 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

75693-2 Fetal sex in Plasma cell-free DNA by Dosage of chromosome specific cell free (cf) DNA

Term Description

The sex of the fetus is determined based on chromosome analysis.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Fetal sex
Property
Find
Time
Pt
System
Plas.cfDNA
Scale
Nom
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet sex Plas.cfDNA Dosage cfDNA
Display Name
Sex Dosage of chromosome-specific cfDNA Nom (cfDNA)
Consumer Name Alpha Get Info
Fetal Sex

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.50
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
14145

Example Answer List LL2903-4

Answer Code Score Answer ID
Female fetus LA21135-1
Male fetus LA21134-4
No result LA21136-9

Member of these Panels

LOINC Long Common Name
73967-2 Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free DNA

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Sexo fetal:Hallazgo:Punto temporal:ADN en plasma libre de células:Nom:Dosificación de ADN ccf de cromosoma específico
es-MX Spanish (Mexico) Sexo fetal:Hallazgo:Punto temporal:ADN libre de células plasmáticas:Nominal:Dosis de cfDNA cromosómico específico
fr-FR French (France) Sexe foetal:Recherche:Ponctuel:Plasma avec ADN libre circulant:Résultat nominal:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Sesso fetale:Osservazione:Pt:Plasma.DNA libero circolante:Nom:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Osservazione Patologia molecolare Plasma Punto nel tempo (episodio)
zh-CN Chinese (China) 胎儿性别:发现:时间点:血浆.cfDNA:名义型:染色体特异性 cfDNA 剂量测定
Synonyms: 分子病理学;分子病理学试验 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 性;性别特征;性行为;性交;性活动 时刻;随机;随意;瞬间 染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异 特异性的 特异的 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA