Clinical validation of a novel automated cell‐free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma
Objective To evaluate clinical performance of a new automated cell‐free (cf)DNA assay in maternal plasma screening for trisomies 21, 18, and 13, and to determine fetal sex. Method Maternal plasma samples from 1200 singleton pregnancies were analyzed with a new non–sequencing cfDNA method, which is b...
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| Veröffentlicht in: | Prenatal diagnosis 2019-10, Vol.39 (11), p.1011-1015 |
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| creator | Ericsson, Olle Ahola, Tarja Dahl, Fredrik Karlsson, Filip Persson, Fredrik Karlberg, Olof Roos, Fredrik Alftrén, Ida Andersson, Björn Barkenäs, Emelie Boghos, Ani Brandner, Birgit Dahlberg, Jenny Forsgren, Per‐Ola Francois, Niels Gousseva, Anna Hakamali, Faizan Janfalk‐Carlsson, Åsa Johansson, Henrik Lundgren, Johanna Mohsenchian, Atefeh Olausson, Linus Olofsson, Simon Qureshi, Atif Skarpås, Björn Svahn, Peter Sävneby, Anna Åström, Eva Sahlberg, Anna Fianu‐Jonasson, Aino Gautier, Jérémie Costa, Jean‐Marc Jacobsson, Bo Nicolaides, Kypros |
| description | Objective
To evaluate clinical performance of a new automated cell‐free (cf)DNA assay in maternal plasma screening for trisomies 21, 18, and 13, and to determine fetal sex.
Method
Maternal plasma samples from 1200 singleton pregnancies were analyzed with a new non–sequencing cfDNA method, which is based on imaging and counting specific chromosome targets. Reference outcomes were determined by either cytogenetic testing, of amniotic fluid or chorionic villi, or clinical examination of neonates.
Results
The samples examined included 158 fetal aneuploidies. Sensitivity was 100% (112/112) for trisomy 21, 89% (32/36) for trisomy 18, and 100% (10/10) for trisomy 13. The respective specificities were 100%, 99.5%, and 99.9%. There were five first pass failures (0.4%), all in unaffected pregnancies. Sex classification was performed on 979 of the samples and 99.6% (975/979) provided a concordant result.
Conclusion
The new automated cfDNA assay has high sensitivity and specificity for trisomies 21, 18, and 13 and accurate classification of fetal sex, while maintaining a low failure rate. The study demonstrated that cfDNA testing can be simplified and automated to reduce cost and thereby enabling wider population‐based screening.
What is already known about this topic?
Maternal plasma cell‐free (cf)DNA analysis with next-generation sequencing has a high sensitivity and specificity for fetal trisomy 21 and other common autosomal trisomies.
A new amplification-free, nonsequencing, and targeted cfDNA assay has been developed.
Proof‐of‐principle analysis found the new assay has promising results in screening for trisomy 21.
What does this study add?
The new assay has high sensitivity and specificity for trisomies 21, 18, and 13 in singleton pregnancies.
It can accurately determine fetal sex.
It is suitable for use in biochemical screening laboratories since it is highly automated and does not require specialized personnel. |
| doi_str_mv | 10.1002/pd.5528 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_swepu</sourceid><recordid>TN_cdi_swepub_primary_oai_swepub_ki_se_477581</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2309657325</sourcerecordid><originalsourceid>FETCH-LOGICAL-c5098-850c291f06652cb8d9e7779d0651c9852e18cec44d284bf35110142a895d599e3</originalsourceid><addsrcrecordid>eNp9kt1uFCEYhonR2LUa78CQeKCJncrPMAMnJs3Wv6RRD_SYsMCsVAamMLPtnvUSvEavRMZdG2uiR7z5eHh5-fgAeIzRMUaIvBzMMWOE3wELjERbIULoXbBAuGjKGT4AD3I-LyAnor0PDiiuiUCiWYCrpXfBaeXhRnln1OhigLGDCoa4sR6qaYy9Gq2B2nr_4_p7l6yFpx9OYNZFBRfWUOWstrCLCY7J5dg7myHBRxDTI6iCgZhDF-DskkK5aPAq9-ohuNcpn-2j_XoIvrx5_Xn5rjr7-Pb98uSs0gwJXnGGNBG4Q03DiF5xI2zbtsKghmEtOCMWc211XRvC61VHGcaoPE5xwQwTwtJDUO1886UdppUckutV2sqonNyXvhVlZd22jOP_8utpkKW0nmaecIq4KPyrHV_g3hptw5iUv3Xs9k5wX-U6bmTDhWhoUwye7w1SvJhsHmXv8txsFWycsiQUIyK4QHO2p3-h53GaezpT5TtZSwkr1LMdpVPMOdnuJgxGcp4WORg5T0shn_yZ_Yb7PR4FeLEDLp2323_5yE-nv-x-Amjex_Q</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2309657325</pqid></control><display><type>article</type><title>Clinical validation of a novel automated cell‐free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><source>SWEPUB Freely available online</source><creator>Ericsson, Olle ; Ahola, Tarja ; Dahl, Fredrik ; Karlsson, Filip ; Persson, Fredrik ; Karlberg, Olof ; Roos, Fredrik ; Alftrén, Ida ; Andersson, Björn ; Barkenäs, Emelie ; Boghos, Ani ; Brandner, Birgit ; Dahlberg, Jenny ; Forsgren, Per‐Ola ; Francois, Niels ; Gousseva, Anna ; Hakamali, Faizan ; Janfalk‐Carlsson, Åsa ; Johansson, Henrik ; Lundgren, Johanna ; Mohsenchian, Atefeh ; Olausson, Linus ; Olofsson, Simon ; Qureshi, Atif ; Skarpås, Björn ; Svahn, Peter ; Sävneby, Anna ; Åström, Eva ; Sahlberg, Anna ; Fianu‐Jonasson, Aino ; Gautier, Jérémie ; Costa, Jean‐Marc ; Jacobsson, Bo ; Nicolaides, Kypros</creator><creatorcontrib>Ericsson, Olle ; Ahola, Tarja ; Dahl, Fredrik ; Karlsson, Filip ; Persson, Fredrik ; Karlberg, Olof ; Roos, Fredrik ; Alftrén, Ida ; Andersson, Björn ; Barkenäs, Emelie ; Boghos, Ani ; Brandner, Birgit ; Dahlberg, Jenny ; Forsgren, Per‐Ola ; Francois, Niels ; Gousseva, Anna ; Hakamali, Faizan ; Janfalk‐Carlsson, Åsa ; Johansson, Henrik ; Lundgren, Johanna ; Mohsenchian, Atefeh ; Olausson, Linus ; Olofsson, Simon ; Qureshi, Atif ; Skarpås, Björn ; Svahn, Peter ; Sävneby, Anna ; Åström, Eva ; Sahlberg, Anna ; Fianu‐Jonasson, Aino ; Gautier, Jérémie ; Costa, Jean‐Marc ; Jacobsson, Bo ; Nicolaides, Kypros</creatorcontrib><description>Objective
To evaluate clinical performance of a new automated cell‐free (cf)DNA assay in maternal plasma screening for trisomies 21, 18, and 13, and to determine fetal sex.
Method
Maternal plasma samples from 1200 singleton pregnancies were analyzed with a new non–sequencing cfDNA method, which is based on imaging and counting specific chromosome targets. Reference outcomes were determined by either cytogenetic testing, of amniotic fluid or chorionic villi, or clinical examination of neonates.
Results
The samples examined included 158 fetal aneuploidies. Sensitivity was 100% (112/112) for trisomy 21, 89% (32/36) for trisomy 18, and 100% (10/10) for trisomy 13. The respective specificities were 100%, 99.5%, and 99.9%. There were five first pass failures (0.4%), all in unaffected pregnancies. Sex classification was performed on 979 of the samples and 99.6% (975/979) provided a concordant result.
Conclusion
The new automated cfDNA assay has high sensitivity and specificity for trisomies 21, 18, and 13 and accurate classification of fetal sex, while maintaining a low failure rate. The study demonstrated that cfDNA testing can be simplified and automated to reduce cost and thereby enabling wider population‐based screening.
What is already known about this topic?
Maternal plasma cell‐free (cf)DNA analysis with next-generation sequencing has a high sensitivity and specificity for fetal trisomy 21 and other common autosomal trisomies.
A new amplification-free, nonsequencing, and targeted cfDNA assay has been developed.
Proof‐of‐principle analysis found the new assay has promising results in screening for trisomy 21.
What does this study add?
The new assay has high sensitivity and specificity for trisomies 21, 18, and 13 in singleton pregnancies.
It can accurately determine fetal sex.
It is suitable for use in biochemical screening laboratories since it is highly automated and does not require specialized personnel.</description><identifier>ISSN: 0197-3851</identifier><identifier>ISSN: 1097-0223</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.5528</identifier><identifier>PMID: 31429096</identifier><language>eng</language><publisher>England: Wiley Subscription Services, Inc</publisher><subject>Amniotic fluid ; Assaying ; Automation ; Chromosomes ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 18 ; Chromosomes, Human, Pair 21 ; Classification ; Cytogenetics ; Deoxyribonucleic acid ; DNA ; Failure rates ; Female ; Fetuses ; Genetic screening ; Gynaecology, Obstetrics and Reproductive Medicine ; Gynekologi, obstetrik och reproduktionsmedicin ; Humans ; Neonates ; Noninvasive Prenatal Testing - methods ; Original ; Patau's syndrome ; Pregnancy ; Sensitivity ; Sex ; Trisomy ; Trisomy - diagnosis</subject><ispartof>Prenatal diagnosis, 2019-10, Vol.39 (11), p.1011-1015</ispartof><rights>2019 The Authors. Prenatal Diagnosis Published by John Wiley & Sons Ltd</rights><rights>2019 The Authors. Prenatal Diagnosis Published by John Wiley & Sons Ltd.</rights><rights>2019 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5098-850c291f06652cb8d9e7779d0651c9852e18cec44d284bf35110142a895d599e3</citedby><cites>FETCH-LOGICAL-c5098-850c291f06652cb8d9e7779d0651c9852e18cec44d284bf35110142a895d599e3</cites><orcidid>0000-0002-0860-1500</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.5528$$EPDF$$P50$$Gwiley$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.5528$$EHTML$$P50$$Gwiley$$Hfree_for_read</linktohtml><link.rule.ids>230,314,550,776,780,881,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31429096$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://gup.ub.gu.se/publication/283089$$DView record from Swedish Publication Index$$Hfree_for_read</backlink><backlink>$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:141612266$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><creatorcontrib>Ericsson, Olle</creatorcontrib><creatorcontrib>Ahola, Tarja</creatorcontrib><creatorcontrib>Dahl, Fredrik</creatorcontrib><creatorcontrib>Karlsson, Filip</creatorcontrib><creatorcontrib>Persson, Fredrik</creatorcontrib><creatorcontrib>Karlberg, Olof</creatorcontrib><creatorcontrib>Roos, Fredrik</creatorcontrib><creatorcontrib>Alftrén, Ida</creatorcontrib><creatorcontrib>Andersson, Björn</creatorcontrib><creatorcontrib>Barkenäs, Emelie</creatorcontrib><creatorcontrib>Boghos, Ani</creatorcontrib><creatorcontrib>Brandner, Birgit</creatorcontrib><creatorcontrib>Dahlberg, Jenny</creatorcontrib><creatorcontrib>Forsgren, Per‐Ola</creatorcontrib><creatorcontrib>Francois, Niels</creatorcontrib><creatorcontrib>Gousseva, Anna</creatorcontrib><creatorcontrib>Hakamali, Faizan</creatorcontrib><creatorcontrib>Janfalk‐Carlsson, Åsa</creatorcontrib><creatorcontrib>Johansson, Henrik</creatorcontrib><creatorcontrib>Lundgren, Johanna</creatorcontrib><creatorcontrib>Mohsenchian, Atefeh</creatorcontrib><creatorcontrib>Olausson, Linus</creatorcontrib><creatorcontrib>Olofsson, Simon</creatorcontrib><creatorcontrib>Qureshi, Atif</creatorcontrib><creatorcontrib>Skarpås, Björn</creatorcontrib><creatorcontrib>Svahn, Peter</creatorcontrib><creatorcontrib>Sävneby, Anna</creatorcontrib><creatorcontrib>Åström, Eva</creatorcontrib><creatorcontrib>Sahlberg, Anna</creatorcontrib><creatorcontrib>Fianu‐Jonasson, Aino</creatorcontrib><creatorcontrib>Gautier, Jérémie</creatorcontrib><creatorcontrib>Costa, Jean‐Marc</creatorcontrib><creatorcontrib>Jacobsson, Bo</creatorcontrib><creatorcontrib>Nicolaides, Kypros</creatorcontrib><title>Clinical validation of a novel automated cell‐free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma</title><title>Prenatal diagnosis</title><addtitle>Prenat Diagn</addtitle><description>Objective
To evaluate clinical performance of a new automated cell‐free (cf)DNA assay in maternal plasma screening for trisomies 21, 18, and 13, and to determine fetal sex.
Method
Maternal plasma samples from 1200 singleton pregnancies were analyzed with a new non–sequencing cfDNA method, which is based on imaging and counting specific chromosome targets. Reference outcomes were determined by either cytogenetic testing, of amniotic fluid or chorionic villi, or clinical examination of neonates.
Results
The samples examined included 158 fetal aneuploidies. Sensitivity was 100% (112/112) for trisomy 21, 89% (32/36) for trisomy 18, and 100% (10/10) for trisomy 13. The respective specificities were 100%, 99.5%, and 99.9%. There were five first pass failures (0.4%), all in unaffected pregnancies. Sex classification was performed on 979 of the samples and 99.6% (975/979) provided a concordant result.
Conclusion
The new automated cfDNA assay has high sensitivity and specificity for trisomies 21, 18, and 13 and accurate classification of fetal sex, while maintaining a low failure rate. The study demonstrated that cfDNA testing can be simplified and automated to reduce cost and thereby enabling wider population‐based screening.
What is already known about this topic?
Maternal plasma cell‐free (cf)DNA analysis with next-generation sequencing has a high sensitivity and specificity for fetal trisomy 21 and other common autosomal trisomies.
A new amplification-free, nonsequencing, and targeted cfDNA assay has been developed.
Proof‐of‐principle analysis found the new assay has promising results in screening for trisomy 21.
What does this study add?
The new assay has high sensitivity and specificity for trisomies 21, 18, and 13 in singleton pregnancies.
It can accurately determine fetal sex.
It is suitable for use in biochemical screening laboratories since it is highly automated and does not require specialized personnel.</description><subject>Amniotic fluid</subject><subject>Assaying</subject><subject>Automation</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 13</subject><subject>Chromosomes, Human, Pair 18</subject><subject>Chromosomes, Human, Pair 21</subject><subject>Classification</subject><subject>Cytogenetics</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Failure rates</subject><subject>Female</subject><subject>Fetuses</subject><subject>Genetic screening</subject><subject>Gynaecology, Obstetrics and Reproductive Medicine</subject><subject>Gynekologi, obstetrik och reproduktionsmedicin</subject><subject>Humans</subject><subject>Neonates</subject><subject>Noninvasive Prenatal Testing - methods</subject><subject>Original</subject><subject>Patau's syndrome</subject><subject>Pregnancy</subject><subject>Sensitivity</subject><subject>Sex</subject><subject>Trisomy</subject><subject>Trisomy - diagnosis</subject><issn>0197-3851</issn><issn>1097-0223</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>EIF</sourceid><sourceid>D8T</sourceid><recordid>eNp9kt1uFCEYhonR2LUa78CQeKCJncrPMAMnJs3Wv6RRD_SYsMCsVAamMLPtnvUSvEavRMZdG2uiR7z5eHh5-fgAeIzRMUaIvBzMMWOE3wELjERbIULoXbBAuGjKGT4AD3I-LyAnor0PDiiuiUCiWYCrpXfBaeXhRnln1OhigLGDCoa4sR6qaYy9Gq2B2nr_4_p7l6yFpx9OYNZFBRfWUOWstrCLCY7J5dg7myHBRxDTI6iCgZhDF-DskkK5aPAq9-ohuNcpn-2j_XoIvrx5_Xn5rjr7-Pb98uSs0gwJXnGGNBG4Q03DiF5xI2zbtsKghmEtOCMWc211XRvC61VHGcaoPE5xwQwTwtJDUO1886UdppUckutV2sqonNyXvhVlZd22jOP_8utpkKW0nmaecIq4KPyrHV_g3hptw5iUv3Xs9k5wX-U6bmTDhWhoUwye7w1SvJhsHmXv8txsFWycsiQUIyK4QHO2p3-h53GaezpT5TtZSwkr1LMdpVPMOdnuJgxGcp4WORg5T0shn_yZ_Yb7PR4FeLEDLp2323_5yE-nv-x-Amjex_Q</recordid><startdate>201910</startdate><enddate>201910</enddate><creator>Ericsson, Olle</creator><creator>Ahola, Tarja</creator><creator>Dahl, Fredrik</creator><creator>Karlsson, Filip</creator><creator>Persson, Fredrik</creator><creator>Karlberg, Olof</creator><creator>Roos, Fredrik</creator><creator>Alftrén, Ida</creator><creator>Andersson, Björn</creator><creator>Barkenäs, Emelie</creator><creator>Boghos, Ani</creator><creator>Brandner, Birgit</creator><creator>Dahlberg, Jenny</creator><creator>Forsgren, Per‐Ola</creator><creator>Francois, Niels</creator><creator>Gousseva, Anna</creator><creator>Hakamali, Faizan</creator><creator>Janfalk‐Carlsson, Åsa</creator><creator>Johansson, Henrik</creator><creator>Lundgren, Johanna</creator><creator>Mohsenchian, Atefeh</creator><creator>Olausson, Linus</creator><creator>Olofsson, Simon</creator><creator>Qureshi, Atif</creator><creator>Skarpås, Björn</creator><creator>Svahn, Peter</creator><creator>Sävneby, Anna</creator><creator>Åström, Eva</creator><creator>Sahlberg, Anna</creator><creator>Fianu‐Jonasson, Aino</creator><creator>Gautier, Jérémie</creator><creator>Costa, Jean‐Marc</creator><creator>Jacobsson, Bo</creator><creator>Nicolaides, Kypros</creator><general>Wiley Subscription Services, Inc</general><general>John Wiley and Sons Inc</general><scope>24P</scope><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><scope>5PM</scope><scope>ADTPV</scope><scope>AOWAS</scope><scope>F1U</scope><scope>D8T</scope><scope>ZZAVC</scope><orcidid>https://orcid.org/0000-0002-0860-1500</orcidid></search><sort><creationdate>201910</creationdate><title>Clinical validation of a novel automated cell‐free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma</title><author>Ericsson, Olle ; Ahola, Tarja ; Dahl, Fredrik ; Karlsson, Filip ; Persson, Fredrik ; Karlberg, Olof ; Roos, Fredrik ; Alftrén, Ida ; Andersson, Björn ; Barkenäs, Emelie ; Boghos, Ani ; Brandner, Birgit ; Dahlberg, Jenny ; Forsgren, Per‐Ola ; Francois, Niels ; Gousseva, Anna ; Hakamali, Faizan ; Janfalk‐Carlsson, Åsa ; Johansson, Henrik ; Lundgren, Johanna ; Mohsenchian, Atefeh ; Olausson, Linus ; Olofsson, Simon ; Qureshi, Atif ; Skarpås, Björn ; Svahn, Peter ; Sävneby, Anna ; Åström, Eva ; Sahlberg, Anna ; Fianu‐Jonasson, Aino ; Gautier, Jérémie ; Costa, Jean‐Marc ; Jacobsson, Bo ; Nicolaides, Kypros</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5098-850c291f06652cb8d9e7779d0651c9852e18cec44d284bf35110142a895d599e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Amniotic fluid</topic><topic>Assaying</topic><topic>Automation</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 13</topic><topic>Chromosomes, Human, Pair 18</topic><topic>Chromosomes, Human, Pair 21</topic><topic>Classification</topic><topic>Cytogenetics</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>Failure rates</topic><topic>Female</topic><topic>Fetuses</topic><topic>Genetic screening</topic><topic>Gynaecology, Obstetrics and Reproductive Medicine</topic><topic>Gynekologi, obstetrik och reproduktionsmedicin</topic><topic>Humans</topic><topic>Neonates</topic><topic>Noninvasive Prenatal Testing - methods</topic><topic>Original</topic><topic>Patau's syndrome</topic><topic>Pregnancy</topic><topic>Sensitivity</topic><topic>Sex</topic><topic>Trisomy</topic><topic>Trisomy - diagnosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ericsson, Olle</creatorcontrib><creatorcontrib>Ahola, Tarja</creatorcontrib><creatorcontrib>Dahl, Fredrik</creatorcontrib><creatorcontrib>Karlsson, Filip</creatorcontrib><creatorcontrib>Persson, Fredrik</creatorcontrib><creatorcontrib>Karlberg, Olof</creatorcontrib><creatorcontrib>Roos, Fredrik</creatorcontrib><creatorcontrib>Alftrén, Ida</creatorcontrib><creatorcontrib>Andersson, Björn</creatorcontrib><creatorcontrib>Barkenäs, Emelie</creatorcontrib><creatorcontrib>Boghos, Ani</creatorcontrib><creatorcontrib>Brandner, Birgit</creatorcontrib><creatorcontrib>Dahlberg, Jenny</creatorcontrib><creatorcontrib>Forsgren, Per‐Ola</creatorcontrib><creatorcontrib>Francois, Niels</creatorcontrib><creatorcontrib>Gousseva, Anna</creatorcontrib><creatorcontrib>Hakamali, Faizan</creatorcontrib><creatorcontrib>Janfalk‐Carlsson, Åsa</creatorcontrib><creatorcontrib>Johansson, Henrik</creatorcontrib><creatorcontrib>Lundgren, Johanna</creatorcontrib><creatorcontrib>Mohsenchian, Atefeh</creatorcontrib><creatorcontrib>Olausson, Linus</creatorcontrib><creatorcontrib>Olofsson, Simon</creatorcontrib><creatorcontrib>Qureshi, Atif</creatorcontrib><creatorcontrib>Skarpås, Björn</creatorcontrib><creatorcontrib>Svahn, Peter</creatorcontrib><creatorcontrib>Sävneby, Anna</creatorcontrib><creatorcontrib>Åström, Eva</creatorcontrib><creatorcontrib>Sahlberg, Anna</creatorcontrib><creatorcontrib>Fianu‐Jonasson, Aino</creatorcontrib><creatorcontrib>Gautier, Jérémie</creatorcontrib><creatorcontrib>Costa, Jean‐Marc</creatorcontrib><creatorcontrib>Jacobsson, Bo</creatorcontrib><creatorcontrib>Nicolaides, Kypros</creatorcontrib><collection>Wiley Online Library Open Access</collection><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><collection>PubMed Central (Full Participant titles)</collection><collection>SwePub</collection><collection>SwePub Articles</collection><collection>SWEPUB Göteborgs universitet</collection><collection>SWEPUB Freely available online</collection><collection>SwePub Articles full text</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ericsson, Olle</au><au>Ahola, Tarja</au><au>Dahl, Fredrik</au><au>Karlsson, Filip</au><au>Persson, Fredrik</au><au>Karlberg, Olof</au><au>Roos, Fredrik</au><au>Alftrén, Ida</au><au>Andersson, Björn</au><au>Barkenäs, Emelie</au><au>Boghos, Ani</au><au>Brandner, Birgit</au><au>Dahlberg, Jenny</au><au>Forsgren, Per‐Ola</au><au>Francois, Niels</au><au>Gousseva, Anna</au><au>Hakamali, Faizan</au><au>Janfalk‐Carlsson, Åsa</au><au>Johansson, Henrik</au><au>Lundgren, Johanna</au><au>Mohsenchian, Atefeh</au><au>Olausson, Linus</au><au>Olofsson, Simon</au><au>Qureshi, Atif</au><au>Skarpås, Björn</au><au>Svahn, Peter</au><au>Sävneby, Anna</au><au>Åström, Eva</au><au>Sahlberg, Anna</au><au>Fianu‐Jonasson, Aino</au><au>Gautier, Jérémie</au><au>Costa, Jean‐Marc</au><au>Jacobsson, Bo</au><au>Nicolaides, Kypros</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical validation of a novel automated cell‐free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat Diagn</addtitle><date>2019-10</date><risdate>2019</risdate><volume>39</volume><issue>11</issue><spage>1011</spage><epage>1015</epage><pages>1011-1015</pages><issn>0197-3851</issn><issn>1097-0223</issn><eissn>1097-0223</eissn><abstract>Objective
To evaluate clinical performance of a new automated cell‐free (cf)DNA assay in maternal plasma screening for trisomies 21, 18, and 13, and to determine fetal sex.
Method
Maternal plasma samples from 1200 singleton pregnancies were analyzed with a new non–sequencing cfDNA method, which is based on imaging and counting specific chromosome targets. Reference outcomes were determined by either cytogenetic testing, of amniotic fluid or chorionic villi, or clinical examination of neonates.
Results
The samples examined included 158 fetal aneuploidies. Sensitivity was 100% (112/112) for trisomy 21, 89% (32/36) for trisomy 18, and 100% (10/10) for trisomy 13. The respective specificities were 100%, 99.5%, and 99.9%. There were five first pass failures (0.4%), all in unaffected pregnancies. Sex classification was performed on 979 of the samples and 99.6% (975/979) provided a concordant result.
Conclusion
The new automated cfDNA assay has high sensitivity and specificity for trisomies 21, 18, and 13 and accurate classification of fetal sex, while maintaining a low failure rate. The study demonstrated that cfDNA testing can be simplified and automated to reduce cost and thereby enabling wider population‐based screening.
What is already known about this topic?
Maternal plasma cell‐free (cf)DNA analysis with next-generation sequencing has a high sensitivity and specificity for fetal trisomy 21 and other common autosomal trisomies.
A new amplification-free, nonsequencing, and targeted cfDNA assay has been developed.
Proof‐of‐principle analysis found the new assay has promising results in screening for trisomy 21.
What does this study add?
The new assay has high sensitivity and specificity for trisomies 21, 18, and 13 in singleton pregnancies.
It can accurately determine fetal sex.
It is suitable for use in biochemical screening laboratories since it is highly automated and does not require specialized personnel.</abstract><cop>England</cop><pub>Wiley Subscription Services, Inc</pub><pmid>31429096</pmid><doi>10.1002/pd.5528</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0002-0860-1500</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0197-3851 |
| ispartof | Prenatal diagnosis, 2019-10, Vol.39 (11), p.1011-1015 |
| issn | 0197-3851 1097-0223 1097-0223 |
| language | eng |
| recordid | cdi_swepub_primary_oai_swepub_ki_se_477581 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; SWEPUB Freely available online |
| subjects | Amniotic fluid Assaying Automation Chromosomes Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 21 Classification Cytogenetics Deoxyribonucleic acid DNA Failure rates Female Fetuses Genetic screening Gynaecology, Obstetrics and Reproductive Medicine Gynekologi, obstetrik och reproduktionsmedicin Humans Neonates Noninvasive Prenatal Testing - methods Original Patau's syndrome Pregnancy Sensitivity Sex Trisomy Trisomy - diagnosis |
| title | Clinical validation of a novel automated cell‐free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-06T05%3A33%3A09IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_swepu&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Clinical%20validation%20of%20a%20novel%20automated%20cell%E2%80%90free%20DNA%20screening%20assay%20for%20trisomies%2021,%2013,%20and%2018%20in%20maternal%20plasma&rft.jtitle=Prenatal%20diagnosis&rft.au=Ericsson,%20Olle&rft.date=2019-10&rft.volume=39&rft.issue=11&rft.spage=1011&rft.epage=1015&rft.pages=1011-1015&rft.issn=0197-3851&rft.eissn=1097-0223&rft_id=info:doi/10.1002/pd.5528&rft_dat=%3Cproquest_swepu%3E2309657325%3C/proquest_swepu%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2309657325&rft_id=info:pmid/31429096&rfr_iscdi=true |