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Genet Med. 2014 May;16(5):419-22. doi: 10.1038/gim.2013.149. Epub 2013 Oct 3.

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

Author information

1
Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA.
2
Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, California, USA.
3
IMALAB s.r.o. Medical Laboratories, Zlin, Czech Republic.
4
Department of Obstetrics and Gynecology, Prenatal Diagnosis Center, Women and Infants Hospital and the Alpert Medical School of Brown University, Providence, Rhode Island,USA.
5
Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
6
Department of Genetics, Yale University, New Haven, Connecticut, USA.
7
Istituto G. Gaslini, Genova, Italy.
8
Hospital Clinic Barcelona, Barcelona, Spain.
9
Sequenom, San Diego, California, USA.
10
1] Sequenom, San Diego, California, USA [2] Sequenom Center for Molecular Medicine, San Diego, California, USA.
11
Sequenom Center for Molecular Medicine, San Diego, California, USA.

Abstract

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.

PMID:
24091801
DOI:
10.1038/gim.2013.149
[Indexed for MEDLINE]
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