Literature DB >> 25298847

Understanding the Limitations of Circulating Cell Free Fetal DNA: An Example of Two Unique Cases.

Cecily A Clark-Ganheart1, Sara N Iqbal1, Donna L Brown1, Susan Black1, Melissa H Fries1.   

Abstract

Circulating cell free fetal DNA (cffDNA) is an effective screening modality for fetal aneuploidy. We report two cases of false positive results. The first case involves a female, with self-reported Down syndrome. CffDNA returned positive for trisomy 18 leading to a maternal diagnosis of mosaicism chromosome 18 with normal fetal karyotype. The second case involves a patient with an anomalous fetal ultrasound and cffDNA positive for trisomy 13. Amniocentesis demonstrated a chromosome 8p duplication/deletion. False positive cffDNA may arise in clinical scenarios where diagnostic testing is clearly indicated. Practitioners should recognize the limitations of cffDNA.

Entities:  

Keywords:  Cell free fetal DNA; Fetal anomalies; Prenatal diagnosis

Year:  2014        PMID： 25298847      PMCID： PMC4185925          DOI： 10.14740/jcgo229w

Source DB:  PubMed          Journal:  J Clin Gynecol Obstet        ISSN： 1927-1271


  7 in total

1.  Prenatal diagnosis of inverted duplicated 8p.

Authors:  M D Macmillin; V Suri; C Lytle; C M Krauss
Journal:  Am J Med Genet       Date:  2000-07-17

Review 2.  Assessment and care of the newborn with Down syndrome.

Authors:  Rachel Ranweiler
Journal:  Adv Neonatal Care       Date:  2009-02       Impact factor: 1.968

Review 3.  Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies.

Authors:  Elles M J Boon; Brigitte H W Faas
Journal:  Prenat Diagn       Date:  2013-06       Impact factor: 3.050

4.  Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

Authors:  K Devriendt; G Matthijs; R Van Dael; M Gewillig; B Eyskens; H Hjalgrim; B Dolmer; J McGaughran; K Bröndum-Nielsen; P Marynen; J P Fryns; J R Vermeesch
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

5.  A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: a review of deletion 8p23.1 cases.

Authors:  K S Reddy
Journal:  Prenat Diagn       Date:  1999-09       Impact factor: 3.050

6.  Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.

Authors:  Rachel D Burnside; John G Pappas; Stephanie Sacharow; Carolyn Applegate; Ada Hamosh; Inder K Gadi; Vikram Jaswaney; Elisabeth Keitges; Karen K Phillips; Venketaswara R Potluri; Hiba Risheg; Janice L Smith; Jim H Tepperberg; Stuart Schwartz; Peter Papenhausen
Journal:  Am J Med Genet A       Date:  2013-03-12       Impact factor: 2.802

Review 7.  Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment.

Authors:  Judith M E Walsh; James D Goldberg
Journal:  Prenat Diagn       Date:  2013-06       Impact factor: 3.050
  7 in total

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