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Brief ReportBrief Report

Vanished Twins and Misdiagnosed Sex: A Case Report with Implications in Prenatal Counseling Using Noninvasive Cell-Free DNA Screening

James F. Kelley, George Henning, Anthony Ambrose and Alan Adelman
The Journal of the American Board of Family Medicine May 2016, 29 (3) 411-413; DOI: https://doi.org/10.3122/jabfm.2016.03.150196
James F. Kelley
From The Department of Family Medicine, Penn State Milton S. Hershey Medical Center, Hershey, PA.
MD, JD
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George Henning
From The Department of Family Medicine, Penn State Milton S. Hershey Medical Center, Hershey, PA.
MD, VMD
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Anthony Ambrose
From The Department of Family Medicine, Penn State Milton S. Hershey Medical Center, Hershey, PA.
MD
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Alan Adelman
From The Department of Family Medicine, Penn State Milton S. Hershey Medical Center, Hershey, PA.
MD
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References

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    1. Griffiths AJF,
    2. Miller JH,
    3. Suzuki DT,
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    . Aneuploidy. In: An Introduction to Genetic Analysis. 7th Ed. New York: W.H. Freeman; 2000:589–635.
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    ; CARE Study Group. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014;370:799–808.
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    3. Swamy GK,
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    . Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015;372:1589–97.
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    1. Porreco RP,
    2. Gariete TJ,
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    4. et al
    . Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuplodies from maternal blood using massively parallel genomic sequencing of DNA. Am J Obst Gynecol 2014;211:e.1–12.
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    1. Futch T,
    2. Spinosa J,
    3. Bhatt S,
    4. de Feo E,
    5. Rava RP,
    6. Sehnert AJ
    . Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn 2013;33:569–74.
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    1. Thurik FF,
    2. Ait Soussan A,
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    . Analysis of false-positive results of fetal RHD typing in a national screening program reveals vanishing twins as possible cause for discrepancy. Prenat Diagn 2015;35:754–60.
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    1. Wright CF,
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    . The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Hum Reprod Update 2009;15:139–51.
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  8. 8.↵
    American College of Obstetricians and Gynecologists Committee on Genetics, Society for Maternal-Fetal Medicine. Committee opinion no. 640: Cell-free DNA screening for fetal aneuploidy. September 2015. Available from: http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Cell-free-DNA-Screening-for-Fetal-Aneuploidy. Accessed December 9, 2015.
  9. 9.↵
    1. Sulakl LE,
    2. Dodson MG
    . The vanishing twin: pathologic confirmation of an ultrasonographic phenomenon. Obstet Gynecol 1986;68:811–5.
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  10. 10.↵
    1. Vlková L,
    2. Hodosy J
    . Vanishing twin as a potential source of bias in non-invasive fetal sex determination: a case report. J Obstet Gynaecol Res 2014;40:1128–31.
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  11. 11.↵
    1. Grömminger S,
    2. Yagmur E,
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    . Fetal aneuploidy detection by cell-free DNA sequencing for multiple pregnancies and quality issues with vanishing twins. J Clin Med 2014;3:679–92.
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    1. Anderson CL,
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    . Fetal chromosome abnormalities: antenatal screening and diagnosis. Am Fam Physician 2009;79:117–23.
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    1. Hochestenbach R,
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    4. et al
    . Unexplained false negative results in noninvasive prenatal testing: two cases involving trisomies 13 and 18. Case Rep Genet 2015;2015:926545.
    OpenUrlPubMed
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The Journal of the American Board of Family     Medicine: 29 (3)
The Journal of the American Board of Family Medicine
Vol. 29, Issue 3
May-June 2016
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Vanished Twins and Misdiagnosed Sex: A Case Report with Implications in Prenatal Counseling Using Noninvasive Cell-Free DNA Screening
James F. Kelley, George Henning, Anthony Ambrose, Alan Adelman
The Journal of the American Board of Family Medicine May 2016, 29 (3) 411-413; DOI: 10.3122/jabfm.2016.03.150196

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Vanished Twins and Misdiagnosed Sex: A Case Report with Implications in Prenatal Counseling Using Noninvasive Cell-Free DNA Screening
James F. Kelley, George Henning, Anthony Ambrose, Alan Adelman
The Journal of the American Board of Family Medicine May 2016, 29 (3) 411-413; DOI: 10.3122/jabfm.2016.03.150196
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