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Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies

G. Lambert-Messerlian, EM. Kloza, J. Williams, J. Loucky, B. O'Brien, L. Wilkins-Haug, MJ. Mahoney, P. De Biasio, A. Borrell, M. Ehrich, D. van den Boom, AT. Bombard, C. Deciu, GE. Palomaki,

. 2014 ; 16 (5) : 419-22.

Jazyk angličtina Země Spojené státy americké

Typ dokumentu srovnávací studie, časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc15014598

PURPOSE: We sought to compare measurements of circulating cell-free DNA as well as Down syndrome test results in women with naturally conceived pregnancies with those conceived using assisted reproductive technologies. METHODS: Data regarding assisted reproductive technologies were readily available from seven enrollment sites participating in an external clinical validation trial of nested case/control design. Measurements of circulating cell-free fetal and total DNA, fetal fraction (ratio of fetal to total DNA), chromosome-specific z-scores, and karyotype results were available for analysis. RESULTS: Analyses were restricted to 632 euploid (5.2% assisted reproductive technologies) and 73 Down syndrome (13.7% assisted reproductive technologies), including 16 twin pregnancies. No differences were found for fetal or total circulating cell-free DNA, or for the fetal fraction in euploid (P = 0.70) or Down syndrome (P = 0.58) pregnancies by method of conception. There appeared to be systematic z-score reductions for chromosomes 21, 18, and 13 in assisted reproductive technologies versus natural euploid pregnancies (P = 0.048, 0.0032, and 0.36, respectively). CONCLUSION: Assisted reproductive technologies and naturally conceived pregnancies contribute similar levels of circulating cell-free DNA into maternal circulation. Small differences in the z-scores of pregnancies achieved by assisted reproductive technologies were observed and do not appear to be test-related artifacts. However, the findings need confirmation before any consideration of changes to testing and reporting protocols.

Citace poskytuje Crossref.org

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$a PURPOSE: We sought to compare measurements of circulating cell-free DNA as well as Down syndrome test results in women with naturally conceived pregnancies with those conceived using assisted reproductive technologies. METHODS: Data regarding assisted reproductive technologies were readily available from seven enrollment sites participating in an external clinical validation trial of nested case/control design. Measurements of circulating cell-free fetal and total DNA, fetal fraction (ratio of fetal to total DNA), chromosome-specific z-scores, and karyotype results were available for analysis. RESULTS: Analyses were restricted to 632 euploid (5.2% assisted reproductive technologies) and 73 Down syndrome (13.7% assisted reproductive technologies), including 16 twin pregnancies. No differences were found for fetal or total circulating cell-free DNA, or for the fetal fraction in euploid (P = 0.70) or Down syndrome (P = 0.58) pregnancies by method of conception. There appeared to be systematic z-score reductions for chromosomes 21, 18, and 13 in assisted reproductive technologies versus natural euploid pregnancies (P = 0.048, 0.0032, and 0.36, respectively). CONCLUSION: Assisted reproductive technologies and naturally conceived pregnancies contribute similar levels of circulating cell-free DNA into maternal circulation. Small differences in the z-scores of pregnancies achieved by assisted reproductive technologies were observed and do not appear to be test-related artifacts. However, the findings need confirmation before any consideration of changes to testing and reporting protocols.
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$a Kloza, Edward M $u Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA.
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$a Williams, John $u Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, California, USA.
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$a O'Brien, Barbara $u Department of Obstetrics and Gynecology, Prenatal Diagnosis Center, Women and Infants Hospital and the Alpert Medical School of Brown University, Providence, Rhode Island,USA.
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$a Wilkins-Haug, Louise $u Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
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$a Mahoney, Maurice J $u Department of Genetics, Yale University, New Haven, Connecticut, USA.
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$a De Biasio, Pierangela $u Istituto G. Gaslini, Genova, Italy.
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$a Borrell, Antoni $u Hospital Clinic Barcelona, Barcelona, Spain.
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$a Ehrich, Mathias $u Sequenom, San Diego, California, USA.
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$a Deciu, Cosmin $u Sequenom Center for Molecular Medicine, San Diego, California, USA.
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