Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies
| Autor: | Jaroslav Loucky, Cosmin Deciu, Dirk van den Boom, Maurice J. Mahoney, Pierangela De Biasio, Allan T. Bombard, John Williams, Edward M. Kloza, Mathias Ehrich, Geralyn Lambert-Messerlian, Louise Wilkins-Haug, Barbara O'Brien, Antoni Borrell, Glenn E. Palomaki |
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| Rok vydání: | 2014 |
| Předmět: |
Genetics
Pregnancy Down syndrome Reproductive Techniques Assisted medicine.diagnostic_test Plasma dna Aneuploidy DNA Reproductive technology Biology medicine.disease Bioinformatics Circulating Cell-Free DNA chemistry.chemical_compound chemistry medicine Humans Female Genetic Testing Down Syndrome Genetics (clinical) Genetic testing |
| Zdroj: | Genetics in Medicine. 16:419-422 |
| ISSN: | 1098-3600 |
| DOI: | 10.1038/gim.2013.149 |
| Popis: | 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.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.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).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. |
| Databáze: | OpenAIRE |
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