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

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Citation: Journal of Clinical Gynecology and Obstetrics. 3(2):38-70, 2014 MayPMID: 25298847Institution: MedStar Washington Hospital CenterDepartment: Obstetrics and Gynecology/Maternal-Fetal MedicineForm of publication: Journal ArticleMedline article type(s): Journal ArticleYear: 2014 ISSN:

1927-1271

Name of journal: Journal of clinical gynecology and obstetricsAbstract: 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.All authors: Black S, Brown DL, Clark-Ganheart CA, Fries MH, Iqbal SNFiscal year: FY2014Date added to catalog: 2018-05-08

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Item type	Current library	Collection	Call number	Status	Date due	Barcode
Journal Article	MedStar Authors Catalog	Article	25298847	Available		25298847

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.

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