High false‐positive non‐invasive prenatal screening results for sex chromosome abnormalities: Are maternal factors the culprit?
Objective To explore the impact of maternal sex chromosome aneuploidies (SCAs) and copy number variation (CNV) on false‐positive results of non‐invasive prenatal screening (NIPS) for predicting foetal SCAs. Methods In total, 22 844 pregnant women were recruited to undergo NIPS. Pregnant women with h...
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| Veröffentlicht in: | Prenatal diagnosis 2020-03, Vol.40 (4), p.463-469 |
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| creator | Zhang, Bin Zhou, Qin Chen, Yingping Shi, Ye Zheng, Fangxiu Liu, Jianbing Yu, Bin |
| description | Objective
To explore the impact of maternal sex chromosome aneuploidies (SCAs) and copy number variation (CNV) on false‐positive results of non‐invasive prenatal screening (NIPS) for predicting foetal SCAs.
Methods
In total, 22 844 pregnant women were recruited to undergo NIPS. Pregnant women with high‐risk of SCAs underwent prenatal diagnosis and maternal copy number variation sequencing (CNV‐seq).
Results
Among 117 women with high‐risk of SCAs, 72 accepted prenatal diagnosis, 86 accepted maternal CNV‐seq, and 21 had maternal sex chromosome abnormalities. The abnormality rate was significantly higher than women at low‐risk of SCAs (24.42% vs 3.51%). Using a novel parameter cffDNA (ChrX)/cffDNA, when the ratio was greater than 2, all foetuses had normal karyotype, and 75.0% (6/8) had abnormal maternal chromosome X. If the ratio was less than or equal to 2, only 10% (4/40) of the mothers had chromosome X CNV alterations, while 33.3% (13/40) of their foetuses had sex chromosomes CNV abnormalities.
Conclusions
Approximately 25% of pregnant women with SCAs predicted by NIPS had sex chromosome abnormalities as determined by CNV‐seq. The ratio of cffDNA (ChrX)/cffDNA can tentatively distinguish the maternal or foetal origin of abnormal cell‐free DNA. In a reanalysis of previous NIPS data, false‐positive results caused by maternal CNV might be elucidated.
What's already known about this topic?
Non‐invasive prenatal screening (NIPS) for the detection of foetal chromosomal aneuploidy by analysing cell‐free foetal DNA (cffDNA) in the plasma of pregnant women was quickly introduced to clinical practice.
The positive predictive value (PPV) of sex chromosome aneuploidies (SCAs) is significantly lower compared with autosomal trisomies. There are various possible causes of a false‐positive NIPS result, including a vanished twin, maternal tumours, maternal mosaicism, confined placental mosaicism, and maternal copy number variation (CNV).
What does this study add?
In this study, our data show maternal sex chromosome abnormalities (including aneuploidy and CNV) might be an important factor contributing to false‐positive SCAs among 86 pregnant women with foetal SCAs predicted by NIPS, and 20% of false‐positive SCA results were caused by maternal sex chromosome abnormalities. In addition, 23.08% of foetal chromosome X (ChrX) CNV was inherited from the mother.
Using the ratio of cffDNA (ChrX)/cffDNA, the SCAs predicted by NIPS were initially distinguished to be maternal or foe |
| doi_str_mv | 10.1002/pd.5529 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2259919918</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2259919918</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3459-e7f218d3aba02d94cd1d931ddcc76bc68ec55233d434df7a2b77016e844a6dee3</originalsourceid><addsrcrecordid>eNp1kV1LHDEUhoO0uNtV_AcS6IUFWZuP-Yo3ImqrINSL9nrIJGd2R2aSac6MuneF_gF_o7_ErKu9KAiB5MDDQ97zErLH2RFnTHzt7VGaCrVFppypfM6EkB_IlPH4lkXKJ-QT4m0EC6HybTKRXPIiSfiU_L1sFkta6xbh6c9j77EZmjugzrs4Nu5O43rsAzg96JaiCQCucQsaAMd2QFr7QBEeqFkG33n0HVBdOR863UYV4DE9DUA7PUBwUVBrM_iAdFgCNWPbh2Y42SEfXz6w-3rPyK9vFz_PLufXP75fnZ1ez41MUjWHvBa8sFJXmgmrEmO5VZJba0yeVSYrwMQdSGkTmdg616LKc8YziEF1ZgHkjHzZePvgf4-AQ9k1aKBttQM_YilEqhSPp4jo5__QWz-uA0RKFgmXmcxVpA42lAkeMUBdxjydDquSs3LdS9nbct1LJPdffWPVgf3HvRURgcMNcN-0sHrPU96cv-ieAdJimg0</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2384136379</pqid></control><display><type>article</type><title>High false‐positive non‐invasive prenatal screening results for sex chromosome abnormalities: Are maternal factors the culprit?</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Zhang, Bin ; Zhou, Qin ; Chen, Yingping ; Shi, Ye ; Zheng, Fangxiu ; Liu, Jianbing ; Yu, Bin</creator><creatorcontrib>Zhang, Bin ; Zhou, Qin ; Chen, Yingping ; Shi, Ye ; Zheng, Fangxiu ; Liu, Jianbing ; Yu, Bin</creatorcontrib><description>Objective
To explore the impact of maternal sex chromosome aneuploidies (SCAs) and copy number variation (CNV) on false‐positive results of non‐invasive prenatal screening (NIPS) for predicting foetal SCAs.
Methods
In total, 22 844 pregnant women were recruited to undergo NIPS. Pregnant women with high‐risk of SCAs underwent prenatal diagnosis and maternal copy number variation sequencing (CNV‐seq).
Results
Among 117 women with high‐risk of SCAs, 72 accepted prenatal diagnosis, 86 accepted maternal CNV‐seq, and 21 had maternal sex chromosome abnormalities. The abnormality rate was significantly higher than women at low‐risk of SCAs (24.42% vs 3.51%). Using a novel parameter cffDNA (ChrX)/cffDNA, when the ratio was greater than 2, all foetuses had normal karyotype, and 75.0% (6/8) had abnormal maternal chromosome X. If the ratio was less than or equal to 2, only 10% (4/40) of the mothers had chromosome X CNV alterations, while 33.3% (13/40) of their foetuses had sex chromosomes CNV abnormalities.
Conclusions
Approximately 25% of pregnant women with SCAs predicted by NIPS had sex chromosome abnormalities as determined by CNV‐seq. The ratio of cffDNA (ChrX)/cffDNA can tentatively distinguish the maternal or foetal origin of abnormal cell‐free DNA. In a reanalysis of previous NIPS data, false‐positive results caused by maternal CNV might be elucidated.
What's already known about this topic?
Non‐invasive prenatal screening (NIPS) for the detection of foetal chromosomal aneuploidy by analysing cell‐free foetal DNA (cffDNA) in the plasma of pregnant women was quickly introduced to clinical practice.
The positive predictive value (PPV) of sex chromosome aneuploidies (SCAs) is significantly lower compared with autosomal trisomies. There are various possible causes of a false‐positive NIPS result, including a vanished twin, maternal tumours, maternal mosaicism, confined placental mosaicism, and maternal copy number variation (CNV).
What does this study add?
In this study, our data show maternal sex chromosome abnormalities (including aneuploidy and CNV) might be an important factor contributing to false‐positive SCAs among 86 pregnant women with foetal SCAs predicted by NIPS, and 20% of false‐positive SCA results were caused by maternal sex chromosome abnormalities. In addition, 23.08% of foetal chromosome X (ChrX) CNV was inherited from the mother.
Using the ratio of cffDNA (ChrX)/cffDNA, the SCAs predicted by NIPS were initially distinguished to be maternal or foetal origin and reduced the false‐positive results due to maternal CNV.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.5529</identifier><identifier>PMID: 31318441</identifier><language>eng</language><publisher>England: Wiley Subscription Services, Inc</publisher><subject>Abnormalities ; Amniocentesis ; Aneuploidy ; Cell-Free Nucleic Acids - analysis ; Cell-Free Nucleic Acids - genetics ; Chromosome aberrations ; Chromosomes ; Chromosomes, Human, X - genetics ; Copy number ; Deoxyribonucleic acid ; Diagnosis ; DNA ; DNA Copy Number Variations - genetics ; False Positive Reactions ; Female ; Fetuses ; Humans ; Karyotypes ; Klinefelter Syndrome - diagnosis ; Male ; Noninvasive Prenatal Testing ; Pregnancy ; Prenatal development ; Prenatal diagnosis ; Risk acceptance ; Screening ; Sequences ; Sex ; Sex Chromosome Aberrations ; Sex Chromosome Disorders - diagnosis ; Sex Chromosome Disorders of Sex Development - diagnosis ; Sex chromosomes ; Trisomy - diagnosis ; Turner Syndrome - diagnosis ; XYY Karyotype - diagnosis</subject><ispartof>Prenatal diagnosis, 2020-03, Vol.40 (4), p.463-469</ispartof><rights>2019 John Wiley & Sons, Ltd.</rights><rights>2020 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3459-e7f218d3aba02d94cd1d931ddcc76bc68ec55233d434df7a2b77016e844a6dee3</citedby><cites>FETCH-LOGICAL-c3459-e7f218d3aba02d94cd1d931ddcc76bc68ec55233d434df7a2b77016e844a6dee3</cites><orcidid>0000-0001-7796-7314</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fpd.5529$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.5529$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31318441$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zhang, Bin</creatorcontrib><creatorcontrib>Zhou, Qin</creatorcontrib><creatorcontrib>Chen, Yingping</creatorcontrib><creatorcontrib>Shi, Ye</creatorcontrib><creatorcontrib>Zheng, Fangxiu</creatorcontrib><creatorcontrib>Liu, Jianbing</creatorcontrib><creatorcontrib>Yu, Bin</creatorcontrib><title>High false‐positive non‐invasive prenatal screening results for sex chromosome abnormalities: Are maternal factors the culprit?</title><title>Prenatal diagnosis</title><addtitle>Prenat Diagn</addtitle><description>Objective
To explore the impact of maternal sex chromosome aneuploidies (SCAs) and copy number variation (CNV) on false‐positive results of non‐invasive prenatal screening (NIPS) for predicting foetal SCAs.
Methods
In total, 22 844 pregnant women were recruited to undergo NIPS. Pregnant women with high‐risk of SCAs underwent prenatal diagnosis and maternal copy number variation sequencing (CNV‐seq).
Results
Among 117 women with high‐risk of SCAs, 72 accepted prenatal diagnosis, 86 accepted maternal CNV‐seq, and 21 had maternal sex chromosome abnormalities. The abnormality rate was significantly higher than women at low‐risk of SCAs (24.42% vs 3.51%). Using a novel parameter cffDNA (ChrX)/cffDNA, when the ratio was greater than 2, all foetuses had normal karyotype, and 75.0% (6/8) had abnormal maternal chromosome X. If the ratio was less than or equal to 2, only 10% (4/40) of the mothers had chromosome X CNV alterations, while 33.3% (13/40) of their foetuses had sex chromosomes CNV abnormalities.
Conclusions
Approximately 25% of pregnant women with SCAs predicted by NIPS had sex chromosome abnormalities as determined by CNV‐seq. The ratio of cffDNA (ChrX)/cffDNA can tentatively distinguish the maternal or foetal origin of abnormal cell‐free DNA. In a reanalysis of previous NIPS data, false‐positive results caused by maternal CNV might be elucidated.
What's already known about this topic?
Non‐invasive prenatal screening (NIPS) for the detection of foetal chromosomal aneuploidy by analysing cell‐free foetal DNA (cffDNA) in the plasma of pregnant women was quickly introduced to clinical practice.
The positive predictive value (PPV) of sex chromosome aneuploidies (SCAs) is significantly lower compared with autosomal trisomies. There are various possible causes of a false‐positive NIPS result, including a vanished twin, maternal tumours, maternal mosaicism, confined placental mosaicism, and maternal copy number variation (CNV).
What does this study add?
In this study, our data show maternal sex chromosome abnormalities (including aneuploidy and CNV) might be an important factor contributing to false‐positive SCAs among 86 pregnant women with foetal SCAs predicted by NIPS, and 20% of false‐positive SCA results were caused by maternal sex chromosome abnormalities. In addition, 23.08% of foetal chromosome X (ChrX) CNV was inherited from the mother.
Using the ratio of cffDNA (ChrX)/cffDNA, the SCAs predicted by NIPS were initially distinguished to be maternal or foetal origin and reduced the false‐positive results due to maternal CNV.</description><subject>Abnormalities</subject><subject>Amniocentesis</subject><subject>Aneuploidy</subject><subject>Cell-Free Nucleic Acids - analysis</subject><subject>Cell-Free Nucleic Acids - genetics</subject><subject>Chromosome aberrations</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, X - genetics</subject><subject>Copy number</subject><subject>Deoxyribonucleic acid</subject><subject>Diagnosis</subject><subject>DNA</subject><subject>DNA Copy Number Variations - genetics</subject><subject>False Positive Reactions</subject><subject>Female</subject><subject>Fetuses</subject><subject>Humans</subject><subject>Karyotypes</subject><subject>Klinefelter Syndrome - diagnosis</subject><subject>Male</subject><subject>Noninvasive Prenatal Testing</subject><subject>Pregnancy</subject><subject>Prenatal development</subject><subject>Prenatal diagnosis</subject><subject>Risk acceptance</subject><subject>Screening</subject><subject>Sequences</subject><subject>Sex</subject><subject>Sex Chromosome Aberrations</subject><subject>Sex Chromosome Disorders - diagnosis</subject><subject>Sex Chromosome Disorders of Sex Development - diagnosis</subject><subject>Sex chromosomes</subject><subject>Trisomy - diagnosis</subject><subject>Turner Syndrome - diagnosis</subject><subject>XYY Karyotype - diagnosis</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kV1LHDEUhoO0uNtV_AcS6IUFWZuP-Yo3ImqrINSL9nrIJGd2R2aSac6MuneF_gF_o7_ErKu9KAiB5MDDQ97zErLH2RFnTHzt7VGaCrVFppypfM6EkB_IlPH4lkXKJ-QT4m0EC6HybTKRXPIiSfiU_L1sFkta6xbh6c9j77EZmjugzrs4Nu5O43rsAzg96JaiCQCucQsaAMd2QFr7QBEeqFkG33n0HVBdOR863UYV4DE9DUA7PUBwUVBrM_iAdFgCNWPbh2Y42SEfXz6w-3rPyK9vFz_PLufXP75fnZ1ez41MUjWHvBa8sFJXmgmrEmO5VZJba0yeVSYrwMQdSGkTmdg616LKc8YziEF1ZgHkjHzZePvgf4-AQ9k1aKBttQM_YilEqhSPp4jo5__QWz-uA0RKFgmXmcxVpA42lAkeMUBdxjydDquSs3LdS9nbct1LJPdffWPVgf3HvRURgcMNcN-0sHrPU96cv-ieAdJimg0</recordid><startdate>202003</startdate><enddate>202003</enddate><creator>Zhang, Bin</creator><creator>Zhou, Qin</creator><creator>Chen, Yingping</creator><creator>Shi, Ye</creator><creator>Zheng, Fangxiu</creator><creator>Liu, Jianbing</creator><creator>Yu, Bin</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7T5</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-7796-7314</orcidid></search><sort><creationdate>202003</creationdate><title>High false‐positive non‐invasive prenatal screening results for sex chromosome abnormalities: Are maternal factors the culprit?</title><author>Zhang, Bin ; Zhou, Qin ; Chen, Yingping ; Shi, Ye ; Zheng, Fangxiu ; Liu, Jianbing ; Yu, Bin</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3459-e7f218d3aba02d94cd1d931ddcc76bc68ec55233d434df7a2b77016e844a6dee3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Abnormalities</topic><topic>Amniocentesis</topic><topic>Aneuploidy</topic><topic>Cell-Free Nucleic Acids - analysis</topic><topic>Cell-Free Nucleic Acids - genetics</topic><topic>Chromosome aberrations</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, X - genetics</topic><topic>Copy number</topic><topic>Deoxyribonucleic acid</topic><topic>Diagnosis</topic><topic>DNA</topic><topic>DNA Copy Number Variations - genetics</topic><topic>False Positive Reactions</topic><topic>Female</topic><topic>Fetuses</topic><topic>Humans</topic><topic>Karyotypes</topic><topic>Klinefelter Syndrome - diagnosis</topic><topic>Male</topic><topic>Noninvasive Prenatal Testing</topic><topic>Pregnancy</topic><topic>Prenatal development</topic><topic>Prenatal diagnosis</topic><topic>Risk acceptance</topic><topic>Screening</topic><topic>Sequences</topic><topic>Sex</topic><topic>Sex Chromosome Aberrations</topic><topic>Sex Chromosome Disorders - diagnosis</topic><topic>Sex Chromosome Disorders of Sex Development - diagnosis</topic><topic>Sex chromosomes</topic><topic>Trisomy - diagnosis</topic><topic>Turner Syndrome - diagnosis</topic><topic>XYY Karyotype - diagnosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Zhang, Bin</creatorcontrib><creatorcontrib>Zhou, Qin</creatorcontrib><creatorcontrib>Chen, Yingping</creatorcontrib><creatorcontrib>Shi, Ye</creatorcontrib><creatorcontrib>Zheng, Fangxiu</creatorcontrib><creatorcontrib>Liu, Jianbing</creatorcontrib><creatorcontrib>Yu, Bin</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zhang, Bin</au><au>Zhou, Qin</au><au>Chen, Yingping</au><au>Shi, Ye</au><au>Zheng, Fangxiu</au><au>Liu, Jianbing</au><au>Yu, Bin</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>High false‐positive non‐invasive prenatal screening results for sex chromosome abnormalities: Are maternal factors the culprit?</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat Diagn</addtitle><date>2020-03</date><risdate>2020</risdate><volume>40</volume><issue>4</issue><spage>463</spage><epage>469</epage><pages>463-469</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><abstract>Objective
To explore the impact of maternal sex chromosome aneuploidies (SCAs) and copy number variation (CNV) on false‐positive results of non‐invasive prenatal screening (NIPS) for predicting foetal SCAs.
Methods
In total, 22 844 pregnant women were recruited to undergo NIPS. Pregnant women with high‐risk of SCAs underwent prenatal diagnosis and maternal copy number variation sequencing (CNV‐seq).
Results
Among 117 women with high‐risk of SCAs, 72 accepted prenatal diagnosis, 86 accepted maternal CNV‐seq, and 21 had maternal sex chromosome abnormalities. The abnormality rate was significantly higher than women at low‐risk of SCAs (24.42% vs 3.51%). Using a novel parameter cffDNA (ChrX)/cffDNA, when the ratio was greater than 2, all foetuses had normal karyotype, and 75.0% (6/8) had abnormal maternal chromosome X. If the ratio was less than or equal to 2, only 10% (4/40) of the mothers had chromosome X CNV alterations, while 33.3% (13/40) of their foetuses had sex chromosomes CNV abnormalities.
Conclusions
Approximately 25% of pregnant women with SCAs predicted by NIPS had sex chromosome abnormalities as determined by CNV‐seq. The ratio of cffDNA (ChrX)/cffDNA can tentatively distinguish the maternal or foetal origin of abnormal cell‐free DNA. In a reanalysis of previous NIPS data, false‐positive results caused by maternal CNV might be elucidated.
What's already known about this topic?
Non‐invasive prenatal screening (NIPS) for the detection of foetal chromosomal aneuploidy by analysing cell‐free foetal DNA (cffDNA) in the plasma of pregnant women was quickly introduced to clinical practice.
The positive predictive value (PPV) of sex chromosome aneuploidies (SCAs) is significantly lower compared with autosomal trisomies. There are various possible causes of a false‐positive NIPS result, including a vanished twin, maternal tumours, maternal mosaicism, confined placental mosaicism, and maternal copy number variation (CNV).
What does this study add?
In this study, our data show maternal sex chromosome abnormalities (including aneuploidy and CNV) might be an important factor contributing to false‐positive SCAs among 86 pregnant women with foetal SCAs predicted by NIPS, and 20% of false‐positive SCA results were caused by maternal sex chromosome abnormalities. In addition, 23.08% of foetal chromosome X (ChrX) CNV was inherited from the mother.
Using the ratio of cffDNA (ChrX)/cffDNA, the SCAs predicted by NIPS were initially distinguished to be maternal or foetal origin and reduced the false‐positive results due to maternal CNV.</abstract><cop>England</cop><pub>Wiley Subscription Services, Inc</pub><pmid>31318441</pmid><doi>10.1002/pd.5529</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0001-7796-7314</orcidid></addata></record> |
| fulltext | fulltext |
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| ispartof | Prenatal diagnosis, 2020-03, Vol.40 (4), p.463-469 |
| issn | 0197-3851 1097-0223 |
| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Abnormalities Amniocentesis Aneuploidy Cell-Free Nucleic Acids - analysis Cell-Free Nucleic Acids - genetics Chromosome aberrations Chromosomes Chromosomes, Human, X - genetics Copy number Deoxyribonucleic acid Diagnosis DNA DNA Copy Number Variations - genetics False Positive Reactions Female Fetuses Humans Karyotypes Klinefelter Syndrome - diagnosis Male Noninvasive Prenatal Testing Pregnancy Prenatal development Prenatal diagnosis Risk acceptance Screening Sequences Sex Sex Chromosome Aberrations Sex Chromosome Disorders - diagnosis Sex Chromosome Disorders of Sex Development - diagnosis Sex chromosomes Trisomy - diagnosis Turner Syndrome - diagnosis XYY Karyotype - diagnosis |
| title | High false‐positive non‐invasive prenatal screening results for sex chromosome abnormalities: Are maternal factors the culprit? |
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