Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA)
Objective Evaluate patient choices and outcomes following positive cfDNA. Method Retrospective cohort study of women with positive cfDNA through two academic centers between March 2012 and December 2014. Patients were screened based on ACOG indications. Medical records reviewed for counseling, ultra...
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| Veröffentlicht in: | Prenatal diagnosis 2016-05, Vol.36 (5), p.456-462 |
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| creator | Dobson, Lori J. Reiff, Emily S. Little, Sarah E. Wilkins-Haug, Louise Bromley, Bryann |
| description | Objective
Evaluate patient choices and outcomes following positive cfDNA.
Method
Retrospective cohort study of women with positive cfDNA through two academic centers between March 2012 and December 2014. Patients were screened based on ACOG indications. Medical records reviewed for counseling, ultrasound findings, diagnostic testing, karyotype and outcome.
Results
CfDNA was positive in 114 women; 105 singletons and 9 twin pairs. CfDNA was positive for autosomal trisomy (21, 18, 13) in 96 (84.2%) and sex chromosome aneuploidy in 18 (15.8%). Certified genetic counselors performed 95% of post‐cfDNA counseling. Prenatal diagnostic testing was pursued by 71/114 (62%). Karyotype was available in 91/105 (86.7%) singletons and confirmed aneuploidy in 75/91 (82.4%); the PPV of cfDNA with any ultrasound finding was 93.6% versus 58.6% without a finding. An abnormal sonographic finding was seen in 4/16 (25%) singletons with false positive cfDNA. Fetal termination occurred in 53/79 (67%) singletons and 3/5 (60%) twins with prenatal abnormal or unknown karyotype for autosomal trisomy. Eleven fetuses (11/56, 19.6%) were terminated for suspected autosomal trisomy without karyotype confirmation.
Conclusion
Patient choices following positive cfDNA are varied. Ultrasound modifies the PPV of cfDNA. Termination rates for aneuploidy are not higher than historical controls. Recommendation for karyotype confirmation prior to termination is not universally followed. © 2016 John Wiley & Sons, Ltd.
What's Already Known About This Topic?
Cell‐free DNA screening has superior test performance characteristics for targeted chromosomal abnormalities, and its use is rapidly expanding. Karyotype confirmation is recommended.
What Does This Study Add?
Genetic counseling is being provided following positive cfDNA results. Almost two‐thirds of women with a positive screen pursue prenatal diagnostic testing. Ultrasound modifies the PPV of cfDNA results. Termination rates for aneuploidy are not higher than historical controls; however, karyotype confirmation prior to termination is not universally obtained. |
| doi_str_mv | 10.1002/pd.4805 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_proquest_miscellaneous_1794497381</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1794497381</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4175-c31ef9b416c26528e2474155c7146fc36becb3cc6abb915ad7a34454fce9c63c3</originalsourceid><addsrcrecordid>eNqN0c9rFTEQB_Agiq1V_A8k4KUiW_NzkxxLq69CqQ-pCF5CdjZrU_cl62a3z3fzTzfLqz148jQD-WSY4YvQS0pOKCHs3dCeCE3kI3RIiVEVYYw_RoeElp5rSQ_Qs5xvC9TMqKfogNWGa8PJIfq9dlPwccJwkwJ47GKLoQ8xgOtxmidIG59xl_o-bUP8joeUwxTuPI4phnjn8tIPo49uKh8yjN7HxXVpLLP8PPQptDu8DdMNBt_3VVcEPr86xcfQlfLmOXrSuT77F_f1CH358P767KK6_LT6eHZ6WYGgSlbAqe9MI2gNrJZMeyaUoFKCoqLugNeNh4YD1K5pDJWuVY4LIUUH3kDNgR-h4_3cYUw_Z58nuwl52ahsmeZsqTJCGMU1_Q-qDZGMGF7o63_obZrHWA5ZlBaaSWqKenWv5mbjWzuMYePGnf0bQwFv92Aber97eKfELunaobVLunZ9vpSiq70OefK_HrQbf9hacSXt16uVXV1_u9CfibFr_gcSHaU0</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1788482519</pqid></control><display><type>article</type><title>Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA)</title><source>MEDLINE</source><source>Wiley Journals</source><creator>Dobson, Lori J. ; Reiff, Emily S. ; Little, Sarah E. ; Wilkins-Haug, Louise ; Bromley, Bryann</creator><creatorcontrib>Dobson, Lori J. ; Reiff, Emily S. ; Little, Sarah E. ; Wilkins-Haug, Louise ; Bromley, Bryann</creatorcontrib><description>Objective
Evaluate patient choices and outcomes following positive cfDNA.
Method
Retrospective cohort study of women with positive cfDNA through two academic centers between March 2012 and December 2014. Patients were screened based on ACOG indications. Medical records reviewed for counseling, ultrasound findings, diagnostic testing, karyotype and outcome.
Results
CfDNA was positive in 114 women; 105 singletons and 9 twin pairs. CfDNA was positive for autosomal trisomy (21, 18, 13) in 96 (84.2%) and sex chromosome aneuploidy in 18 (15.8%). Certified genetic counselors performed 95% of post‐cfDNA counseling. Prenatal diagnostic testing was pursued by 71/114 (62%). Karyotype was available in 91/105 (86.7%) singletons and confirmed aneuploidy in 75/91 (82.4%); the PPV of cfDNA with any ultrasound finding was 93.6% versus 58.6% without a finding. An abnormal sonographic finding was seen in 4/16 (25%) singletons with false positive cfDNA. Fetal termination occurred in 53/79 (67%) singletons and 3/5 (60%) twins with prenatal abnormal or unknown karyotype for autosomal trisomy. Eleven fetuses (11/56, 19.6%) were terminated for suspected autosomal trisomy without karyotype confirmation.
Conclusion
Patient choices following positive cfDNA are varied. Ultrasound modifies the PPV of cfDNA. Termination rates for aneuploidy are not higher than historical controls. Recommendation for karyotype confirmation prior to termination is not universally followed. © 2016 John Wiley & Sons, Ltd.
What's Already Known About This Topic?
Cell‐free DNA screening has superior test performance characteristics for targeted chromosomal abnormalities, and its use is rapidly expanding. Karyotype confirmation is recommended.
What Does This Study Add?
Genetic counseling is being provided following positive cfDNA results. Almost two‐thirds of women with a positive screen pursue prenatal diagnostic testing. Ultrasound modifies the PPV of cfDNA results. Termination rates for aneuploidy are not higher than historical controls; however, karyotype confirmation prior to termination is not universally obtained.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.4805</identifier><identifier>PMID: 26938930</identifier><language>eng</language><publisher>England: Blackwell Publishing Ltd</publisher><subject>Abortion, Induced - statistics & numerical data ; Adolescent ; Adult ; Aneuploidy ; Choice Behavior ; Chromosome Disorders - diagnosis ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 18 ; Cohort Studies ; DNA - blood ; DNA - genetics ; Down Syndrome - diagnosis ; Female ; Genetic Counseling ; Humans ; Karyotyping - statistics & numerical data ; Maternal Serum Screening Tests ; Middle Aged ; Predictive Value of Tests ; Pregnancy ; Prenatal Diagnosis ; Retrospective Studies ; Sex Chromosome Aberrations ; Trisomy - diagnosis ; Trisomy 13 Syndrome ; Trisomy 18 Syndrome ; Young Adult</subject><ispartof>Prenatal diagnosis, 2016-05, Vol.36 (5), p.456-462</ispartof><rights>2016 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4175-c31ef9b416c26528e2474155c7146fc36becb3cc6abb915ad7a34454fce9c63c3</citedby></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.4805$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.4805$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26938930$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Dobson, Lori J.</creatorcontrib><creatorcontrib>Reiff, Emily S.</creatorcontrib><creatorcontrib>Little, Sarah E.</creatorcontrib><creatorcontrib>Wilkins-Haug, Louise</creatorcontrib><creatorcontrib>Bromley, Bryann</creatorcontrib><title>Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA)</title><title>Prenatal diagnosis</title><addtitle>Prenat Diagn</addtitle><description>Objective
Evaluate patient choices and outcomes following positive cfDNA.
Method
Retrospective cohort study of women with positive cfDNA through two academic centers between March 2012 and December 2014. Patients were screened based on ACOG indications. Medical records reviewed for counseling, ultrasound findings, diagnostic testing, karyotype and outcome.
Results
CfDNA was positive in 114 women; 105 singletons and 9 twin pairs. CfDNA was positive for autosomal trisomy (21, 18, 13) in 96 (84.2%) and sex chromosome aneuploidy in 18 (15.8%). Certified genetic counselors performed 95% of post‐cfDNA counseling. Prenatal diagnostic testing was pursued by 71/114 (62%). Karyotype was available in 91/105 (86.7%) singletons and confirmed aneuploidy in 75/91 (82.4%); the PPV of cfDNA with any ultrasound finding was 93.6% versus 58.6% without a finding. An abnormal sonographic finding was seen in 4/16 (25%) singletons with false positive cfDNA. Fetal termination occurred in 53/79 (67%) singletons and 3/5 (60%) twins with prenatal abnormal or unknown karyotype for autosomal trisomy. Eleven fetuses (11/56, 19.6%) were terminated for suspected autosomal trisomy without karyotype confirmation.
Conclusion
Patient choices following positive cfDNA are varied. Ultrasound modifies the PPV of cfDNA. Termination rates for aneuploidy are not higher than historical controls. Recommendation for karyotype confirmation prior to termination is not universally followed. © 2016 John Wiley & Sons, Ltd.
What's Already Known About This Topic?
Cell‐free DNA screening has superior test performance characteristics for targeted chromosomal abnormalities, and its use is rapidly expanding. Karyotype confirmation is recommended.
What Does This Study Add?
Genetic counseling is being provided following positive cfDNA results. Almost two‐thirds of women with a positive screen pursue prenatal diagnostic testing. Ultrasound modifies the PPV of cfDNA results. Termination rates for aneuploidy are not higher than historical controls; however, karyotype confirmation prior to termination is not universally obtained.</description><subject>Abortion, Induced - statistics & numerical data</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Aneuploidy</subject><subject>Choice Behavior</subject><subject>Chromosome Disorders - diagnosis</subject><subject>Chromosomes, Human, Pair 13</subject><subject>Chromosomes, Human, Pair 18</subject><subject>Cohort Studies</subject><subject>DNA - blood</subject><subject>DNA - genetics</subject><subject>Down Syndrome - diagnosis</subject><subject>Female</subject><subject>Genetic Counseling</subject><subject>Humans</subject><subject>Karyotyping - statistics & numerical data</subject><subject>Maternal Serum Screening Tests</subject><subject>Middle Aged</subject><subject>Predictive Value of Tests</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis</subject><subject>Retrospective Studies</subject><subject>Sex Chromosome Aberrations</subject><subject>Trisomy - diagnosis</subject><subject>Trisomy 13 Syndrome</subject><subject>Trisomy 18 Syndrome</subject><subject>Young Adult</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqN0c9rFTEQB_Agiq1V_A8k4KUiW_NzkxxLq69CqQ-pCF5CdjZrU_cl62a3z3fzTzfLqz148jQD-WSY4YvQS0pOKCHs3dCeCE3kI3RIiVEVYYw_RoeElp5rSQ_Qs5xvC9TMqKfogNWGa8PJIfq9dlPwccJwkwJ47GKLoQ8xgOtxmidIG59xl_o-bUP8joeUwxTuPI4phnjn8tIPo49uKh8yjN7HxXVpLLP8PPQptDu8DdMNBt_3VVcEPr86xcfQlfLmOXrSuT77F_f1CH358P767KK6_LT6eHZ6WYGgSlbAqe9MI2gNrJZMeyaUoFKCoqLugNeNh4YD1K5pDJWuVY4LIUUH3kDNgR-h4_3cYUw_Z58nuwl52ahsmeZsqTJCGMU1_Q-qDZGMGF7o63_obZrHWA5ZlBaaSWqKenWv5mbjWzuMYePGnf0bQwFv92Aber97eKfELunaobVLunZ9vpSiq70OefK_HrQbf9hacSXt16uVXV1_u9CfibFr_gcSHaU0</recordid><startdate>201605</startdate><enddate>201605</enddate><creator>Dobson, Lori J.</creator><creator>Reiff, Emily S.</creator><creator>Little, Sarah E.</creator><creator>Wilkins-Haug, Louise</creator><creator>Bromley, Bryann</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</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></search><sort><creationdate>201605</creationdate><title>Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA)</title><author>Dobson, Lori J. ; Reiff, Emily S. ; Little, Sarah E. ; Wilkins-Haug, Louise ; Bromley, Bryann</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4175-c31ef9b416c26528e2474155c7146fc36becb3cc6abb915ad7a34454fce9c63c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Abortion, Induced - statistics & numerical data</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Aneuploidy</topic><topic>Choice Behavior</topic><topic>Chromosome Disorders - diagnosis</topic><topic>Chromosomes, Human, Pair 13</topic><topic>Chromosomes, Human, Pair 18</topic><topic>Cohort Studies</topic><topic>DNA - blood</topic><topic>DNA - genetics</topic><topic>Down Syndrome - diagnosis</topic><topic>Female</topic><topic>Genetic Counseling</topic><topic>Humans</topic><topic>Karyotyping - statistics & numerical data</topic><topic>Maternal Serum Screening Tests</topic><topic>Middle Aged</topic><topic>Predictive Value of Tests</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis</topic><topic>Retrospective Studies</topic><topic>Sex Chromosome Aberrations</topic><topic>Trisomy - diagnosis</topic><topic>Trisomy 13 Syndrome</topic><topic>Trisomy 18 Syndrome</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Dobson, Lori J.</creatorcontrib><creatorcontrib>Reiff, Emily S.</creatorcontrib><creatorcontrib>Little, Sarah E.</creatorcontrib><creatorcontrib>Wilkins-Haug, Louise</creatorcontrib><creatorcontrib>Bromley, Bryann</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</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>Dobson, Lori J.</au><au>Reiff, Emily S.</au><au>Little, Sarah E.</au><au>Wilkins-Haug, Louise</au><au>Bromley, Bryann</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA)</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat Diagn</addtitle><date>2016-05</date><risdate>2016</risdate><volume>36</volume><issue>5</issue><spage>456</spage><epage>462</epage><pages>456-462</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><abstract>Objective
Evaluate patient choices and outcomes following positive cfDNA.
Method
Retrospective cohort study of women with positive cfDNA through two academic centers between March 2012 and December 2014. Patients were screened based on ACOG indications. Medical records reviewed for counseling, ultrasound findings, diagnostic testing, karyotype and outcome.
Results
CfDNA was positive in 114 women; 105 singletons and 9 twin pairs. CfDNA was positive for autosomal trisomy (21, 18, 13) in 96 (84.2%) and sex chromosome aneuploidy in 18 (15.8%). Certified genetic counselors performed 95% of post‐cfDNA counseling. Prenatal diagnostic testing was pursued by 71/114 (62%). Karyotype was available in 91/105 (86.7%) singletons and confirmed aneuploidy in 75/91 (82.4%); the PPV of cfDNA with any ultrasound finding was 93.6% versus 58.6% without a finding. An abnormal sonographic finding was seen in 4/16 (25%) singletons with false positive cfDNA. Fetal termination occurred in 53/79 (67%) singletons and 3/5 (60%) twins with prenatal abnormal or unknown karyotype for autosomal trisomy. Eleven fetuses (11/56, 19.6%) were terminated for suspected autosomal trisomy without karyotype confirmation.
Conclusion
Patient choices following positive cfDNA are varied. Ultrasound modifies the PPV of cfDNA. Termination rates for aneuploidy are not higher than historical controls. Recommendation for karyotype confirmation prior to termination is not universally followed. © 2016 John Wiley & Sons, Ltd.
What's Already Known About This Topic?
Cell‐free DNA screening has superior test performance characteristics for targeted chromosomal abnormalities, and its use is rapidly expanding. Karyotype confirmation is recommended.
What Does This Study Add?
Genetic counseling is being provided following positive cfDNA results. Almost two‐thirds of women with a positive screen pursue prenatal diagnostic testing. Ultrasound modifies the PPV of cfDNA results. Termination rates for aneuploidy are not higher than historical controls; however, karyotype confirmation prior to termination is not universally obtained.</abstract><cop>England</cop><pub>Blackwell Publishing Ltd</pub><pmid>26938930</pmid><doi>10.1002/pd.4805</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Prenatal diagnosis, 2016-05, Vol.36 (5), p.456-462 |
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| subjects | Abortion, Induced - statistics & numerical data Adolescent Adult Aneuploidy Choice Behavior Chromosome Disorders - diagnosis Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 18 Cohort Studies DNA - blood DNA - genetics Down Syndrome - diagnosis Female Genetic Counseling Humans Karyotyping - statistics & numerical data Maternal Serum Screening Tests Middle Aged Predictive Value of Tests Pregnancy Prenatal Diagnosis Retrospective Studies Sex Chromosome Aberrations Trisomy - diagnosis Trisomy 13 Syndrome Trisomy 18 Syndrome Young Adult |
| title | Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA) |
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