Abstract：
BACKGROUND:Noninvasive prenatal testing (NIPT) uses cell-free DNA (cfDNA) as an analyte to detect copy-number alterations in the fetal genome. Because maternal and fetal cfDNA contributions are comingled, changes in the maternal genome can manifest as abnormal NIPT results. Circulating tumor DNA (ctDNA) present in cases of maternal neoplasia has the potential to distort the NIPT readout to a degree that prevents interpretation, resulting in a nonreportable test result for fetal aneuploidy. METHODS:NIPT cases that showed a distortion from normal euploid genomic representation were communicated to the caregiving physician as nonreportable for fetal aneuploidy. Follow-up information was subsequently collected for these cases. More than 450000 pregnant patients who submitted samples for clinical laboratory testing >3 years are summarized. Additionally, in-depth analysis was performed for >79000 research-consented samples. RESULTS:In total, 55 nonreportable NIPT cases with altered genomic profiles were cataloged. Of these, 43 had additional information available to enable follow-up. A maternal neoplasm was confirmed in 40 of these cases: 18 malignant, 20 benign uterine fibroids, and 2 with radiological confirmation but without pathological classification. CONCLUSIONS:In a population of pregnant women who submitted a blood sample for cfDNA testing, an abnormal genomic profile not consistent with fetal abnormalities was detected in about 10 out of 100000 cases. A subset of these observations (18 of 43; 41.9%) was attributed to maternal malignant neoplasms. These observational results suggest the need for a controlled trial to evaluate the potential of using cfDNA as an early biomarker of cancer.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Dharajiya NG,Grosu DS,Farkas DH,McCullough RM,Almasri E,Sun Y,Kim SK,Jensen TJ,Saldivar JS,Topol EJ,van den Boom D,Ehrich Mdoi
10.1373/clinchem.2017.277517subject
Has Abstractpub_date
2018-02-01 00:00:00pages
329-335issue
2eissn
0009-9147issn
1530-8561pii
clinchem.2017.277517journal_volume
64pub_type
杂志文章abstract：BACKGROUND:Plasma concentrations of the peptides midregional proadrenomedullin (MR-proADM), midregional proatrial natriuretic peptide (MR-proANP), and C-terminal endothelin-1 precursor fragment (CT-proET-1) are increased in various cardiovascular conditions. However, there is limited information about the association a...
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doi：10.1373/clinchem.2012.193656
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journal_title：Clinical chemistry
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doi：
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abstract：:We compared serum lipoprotein cholesterol concentrations in a randomly selected subsample (n = 406) population of children (ages 5 to 17 years), as measured by the heparin-Ca2+ and the heparin-Mn2+ precipitation methods. Statistical analysis showed significant differences between results by these methods, especially i...
journal_title：Clinical chemistry
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journal_title：Clinical chemistry
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doi：10.1373/clinchem.2005.049262
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journal_title：Clinical chemistry
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journal_title：Clinical chemistry
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journal_title：Clinical chemistry
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doi：
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doi：
更新日期：1978-08-01 00:00:00
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doi：
更新日期：1980-05-01 00:00:00
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更新日期：2008-09-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1978-09-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1976-11-01 00:00:00
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doi：
更新日期：1995-12-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1978-03-01 00:00:00
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doi：10.1373/clinchem.2009.133678
更新日期：2010-06-01 00:00:00
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pub_type： 杂志文章,评审
doi：
更新日期：2000-12-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1984-06-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1996-06-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1994-07-01 00:00:00
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doi：
更新日期：1980-09-01 00:00:00
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doi：
更新日期：2001-03-01 00:00:00
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doi：
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doi：
更新日期：1984-02-01 00:00:00
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doi：
更新日期：1983-06-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1978-02-01 00:00:00
