Use of cell-free DNA in the investigation of intrauterine fetal demise and miscarriage.

MedStar author(s):
Citation: Obstetrics & Gynecology. 125(6):1321-9, 2015 Jun.PMID: 26000503Institution: MedStar Washington Hospital CenterDepartment: Obstetrics and Gynecology/Maternal-Fetal MedicineForm of publication: Journal ArticleMedline article type(s): Clinical Trial | Journal Article | Research Support, Non-U.S. Gov'tSubject headings: *Abortion, Missed/bl [Blood] | *DNA/bl [Blood] | *Fetal Death | *Gestational Age | *Trisomy/di [Diagnosis] | *Ultrasonography, Prenatal | Abortion, Missed/us [Ultrasonography] | Adult | Female | Humans | Karyotyping | Pregnancy | Pregnancy Trimester, First/bl [Blood] | Pregnancy Trimester, Second/bl [Blood] | Pregnancy Trimester, Third/bl [Blood] | Prospective Studies | Trisomy/ge [Genetics] | Young AdultYear: 2015Local holdings: Available online from MWHC library: 1995 - present, Available in print through MWHC library: 1999 - 2006ISSN:
  • 0029-7844
Name of journal: Obstetrics and gynecologyAbstract: CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov, www.clinicaltrials.gov, NCT01916928.CONCLUSION: Among nonviable pregnancies, cell-free DNA is present in the maternal plasma with fetal fractions greater than 3.7% in more than three fourths of cases after an ultrasonographic gestational age of 8 weeks.LEVEL OF EVIDENCE: III.METHODS: We conducted a prospective cohort study of 50 participants at MedStar Washington Hospital Center, Washington, DC, between June 2013 and January 2014. Included were women with pregnancies complicated by missed abortion or fetal demise. All gestational ages were considered for study participation. Participants with fetal demise were offered the standard workup for fetal death per the American College of Obstetricians and Gynecologists. Maternal blood samples were processed to determine the presence of cell-free DNA, the corresponding fetal fractions, and genetic abnormalities.OBJECTIVE: To estimate whether cell-free DNA is present in nonviable pregnancies and thus can be used in diagnostic evaluation in this setting.RESULTS: Fifty samples from nonviable pregnancies were analyzed. The average clinical gestational age was 16.9 weeks (standard deviation 9.2). The mean maternal body mass index was 30.3 (standard deviation 9.1). Seventy-six percent (38/50) of samples yielded cell-free DNA results, that is, had fetal fractions within the detectable range of 3.7-65%. Among the 38, 76% (29) were classified as euploid, 21% (8) as trisomies, and 3% (1) as microdeletion. A cell-free DNA result was obtained more frequently at ultrasonographic gestational ages of 8 weeks or greater compared with less than 8 weeks (87.9% [n=29/33, 95% confidence interval (CI) 72.7-95.2; and 52.9%, n=9/17, 95% CI 31.0-73.8] of the time, respectively, P=.012). Time from demise was not associated with obtaining a result.All authors: Clark-Ganheart CA, Driggers RW, Fries MH, Jennings JM, Jensen TJ, Leifheit KM, Moreno-Ruiz NL, Ye PPFiscal year: FY2015Digital Object Identifier: Date added to catalog: 2016-01-13
Holdings
Item type Current library Collection Call number Status Date due Barcode
Journal Article MedStar Authors Catalog Article 26000503 Available 26000503

Available online from MWHC library: 1995 - present, Available in print through MWHC library: 1999 - 2006

CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov, www.clinicaltrials.gov, NCT01916928.

CONCLUSION: Among nonviable pregnancies, cell-free DNA is present in the maternal plasma with fetal fractions greater than 3.7% in more than three fourths of cases after an ultrasonographic gestational age of 8 weeks.

LEVEL OF EVIDENCE: III.

METHODS: We conducted a prospective cohort study of 50 participants at MedStar Washington Hospital Center, Washington, DC, between June 2013 and January 2014. Included were women with pregnancies complicated by missed abortion or fetal demise. All gestational ages were considered for study participation. Participants with fetal demise were offered the standard workup for fetal death per the American College of Obstetricians and Gynecologists. Maternal blood samples were processed to determine the presence of cell-free DNA, the corresponding fetal fractions, and genetic abnormalities.

OBJECTIVE: To estimate whether cell-free DNA is present in nonviable pregnancies and thus can be used in diagnostic evaluation in this setting.

RESULTS: Fifty samples from nonviable pregnancies were analyzed. The average clinical gestational age was 16.9 weeks (standard deviation 9.2). The mean maternal body mass index was 30.3 (standard deviation 9.1). Seventy-six percent (38/50) of samples yielded cell-free DNA results, that is, had fetal fractions within the detectable range of 3.7-65%. Among the 38, 76% (29) were classified as euploid, 21% (8) as trisomies, and 3% (1) as microdeletion. A cell-free DNA result was obtained more frequently at ultrasonographic gestational ages of 8 weeks or greater compared with less than 8 weeks (87.9% [n=29/33, 95% confidence interval (CI) 72.7-95.2; and 52.9%, n=9/17, 95% CI 31.0-73.8] of the time, respectively, P=.012). Time from demise was not associated with obtaining a result.

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