Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples.
Expanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes to determine reproductive risk. Data on the clinical utility of screening conditions beyond professional guidelines are scarce. Individuals underwent ECS for up to 110 genes. Five-hundred thirty-seven at-risk couples (AR...
| Published in: | Journal of Genetic Counseling Vol. 27; no. 3; pp. 616 - 626 |
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| Main Authors: | , , , , |
| Format: | research tables/charts Journal Article |
| Published: |
Wiley-Blackwell
Jun2018
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| Online Access: | View this record in EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=129593725&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 129593725 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10597700 41A jtl: Journal of Genetic Counseling issn: 10597700 maglogo: N pubinfo: dt: Jun2018 vid: 27 iid: 3 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 129593725 129593725 129593725 10.1007/s10897-017-0160-1 129593725 ppf: 616 ppct: 10 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples. aug: au: Ghiossi, Caroline E. Goldberg, James D. Haque, Imran S. Lazarin, Gabriel A. Wong, Kenny K. affil: California State University Stanislaus, 1 University Cir, 95382, Turlock, CA, USA sug: subj: Genetic Screening Utilization Reproduction Psychosocial Factors Spouses Psychosocial Factors Surveys Human Decision Making, Clinical Prenatal Diagnosis Preimplantation Diagnosis Fertilization in Vitro Amniocentesis Severity of Illness Genes, Recessive ab: Expanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes to determine reproductive risk. Data on the clinical utility of screening conditions beyond professional guidelines are scarce. Individuals underwent ECS for up to 110 genes. Five-hundred thirty-seven at-risk couples (ARC), those in which both partners carry the same recessive disease, were invited to participate in a retrospective IRB-approved survey of their reproductive decision making after receiving ECS results. Sixty-four eligible ARC completed the survey. Of 45 respondents screened preconceptionally, 62% (<italic>n</italic> = 28) planned IVF with PGD or prenatal diagnosis (PNDx) in future pregnancies. Twenty-nine percent (<italic>n</italic> = 13) were not planning to alter reproductive decisions. The remaining 9% (<italic>n</italic> = 4) of responses were unclear. Of 19 pregnant respondents, 42% (<italic>n</italic> = 8) elected PNDx, 11% (<italic>n</italic> = 2) planned amniocentesis but miscarried, and 47% (<italic>n</italic> = 9) considered the condition insufficiently severe to warrant invasive testing. Of the 8 pregnancies that underwent PNDx, 5 were unaffected and 3 were affected. Two of 3 affected pregnancies were terminated. Disease severity was found to have significant association (<italic>p</italic> = 0.000145) with changes in decision making, whereas guideline status of diseases, controlled for severity, was not (<italic>p</italic> = 0.284). Most ARC altered reproductive planning, demonstrating the clinical utility of ECS. Severity of conditions factored into decision making. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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